WorldWideScience

Sample records for ret mutation r114h

  1. Somatic RET mutation in a patient with pigmented adrenal pheochromocytoma

    NARCIS (Netherlands)

    Maison, Nicole; Korpershoek, Esther; Eisenhofer, Graeme; Robledo, Mercedes; de Krijger, Ronald; Beuschlein, Felix

    UNLABELLED: Pheochromocytomas (PCC) and paraganglioma (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the neural crest. Mutations in the RET-proto-oncogene are associated with sporadic pheochromocytoma, familial or sporadic medullary thyroid carcinoma (MTC) and multiple

  2. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas

    Science.gov (United States)

    Moura, M M; Cavaco, B M; Pinto, A E; Domingues, R; Santos, J R; Cid, M O; Bugalho, M J; Leite, V

    2009-01-01

    Screening of REarranged during Transfection (RET) gene mutations has been carried out in different series of sporadic medullary thyroid carcinomas (MTC). RET-positive tumours seem to be associated to a worse clinical outcome. However, the correlation between the type of RET mutation and the patients' clinicopathological data has not been evaluated yet. We analysed RET exons 5, 8, 10–16 in fifty-one sporadic MTC, and found somatic mutations in thirty-three (64.7%) tumours. Among the RET-positive cases, exon 16 was the most frequently affected (60.6%). Two novel somatic mutations (Cys630Gly, c.1881del18) were identified. MTC patients were divided into three groups: group 1, with mutations in RET exons 15 and 16; group 2, with other RET mutations; group 3, having no RET mutations. Group 1 had higher prevalence (P=0.0051) and number of lymph node metastases (P=0.0017), and presented more often multifocal tumours (P=0.037) and persistent disease at last control (P=0.0242) than group 2. Detectable serum calcitonin levels at last screening (P=0.0119) and stage IV disease (P=0.0145) were more frequent in group 1, than in the other groups. Our results suggest that, among the sporadic MTC, cases with RET mutations in exons 15 and 16 are associated with the worst prognosis. Cases with other RET mutations have the most indolent course, and those with no RET mutations have an intermediate risk. PMID:19401695

  3. A germline RET proto-oncogene mutation in multiple members of an ...

    African Journals Online (AJOL)

    Makia Marafie

    2016-09-17

    Sep 17, 2016 ... The Egyptian Journal of Medical Human Genetics (2017) 18, 193–197. HOSTED BY ... been reported in 85% of tested individuals, nearly 50% of them are amino acid .... [1] Krampitz GW, Norton JA. RET gene mutations ...

  4. Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?

    DEFF Research Database (Denmark)

    Hansen, H S; Torring, H; Godballe, C

    2000-01-01

    BACKGROUND: The results and consequences of genetic testing in a family with familial medullary thyroid carcinoma (FMTC) are described. METHODS: In the screening of relatives, serum calcitonin is replaced by RET mutation analysis that was performed in families suspected of hereditary medullary th...

  5. A germline RET proto-oncogene mutation in multiple members of an ...

    African Journals Online (AJOL)

    Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare cancer associated-syndrome, inherited in an autosomal dominant fashion and caused by germline mutation in RET proto-oncogene. Clinical diagnosis depends on the manifestation of two or more certain endocrine tumors in an individual, such as ...

  6. Risk profile of the RET A883F germline mutation

    DEFF Research Database (Denmark)

    Mathiesen, Jes Sloth; Habra, Mouhammed Amir; Bassett, John Howard Duncan

    2017-01-01

    the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels. Design: Retrospective analysis. Setting: International collaboration. Patients: Included were 13 A...... seems to have a more indolent natural course compared to that of M918T carriers. Our results support the classification of the A883F mutation in the ATA high risk level....

  7. RET gene mutations and polymorphisms in medullary thyroid ...

    Indian Academy of Sciences (India)

    51 clinically diagnosed MTC patients, 39 family members of patients and 50 normal individuals. The method of .... Documentation system (Amersham Pharmacia Biotech,. Uppsala ... direct nucleotide sequencing to identify the mutations, using.

  8. No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

    NARCIS (Netherlands)

    Hofstra, R. M.; Cheng, N. C.; Hansen, C.; Stulp, R. P.; Stelwagen, T.; Clausen, N.; Tommerup, N.; Caron, H.; Westerveld, A.; Versteeg, R.; Buys, C. H.

    1996-01-01

    Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogene RET plays a role in neurocrest differentiation. In humans expression of RET is limited to certain tumor

  9. No mutations found by RET mutation scanning in sporadic and hereditary neuroblastoma

    NARCIS (Netherlands)

    Hofstra, RMW; Cheng, NC; Stulp, RP; Stelwagen, T; Clausen, N; Tommerup, N; Caron, H; Westerveld, A; Buys, CHCM

    Neuroblastoma occasionally occurs in diseases associated with abnormal neurocrest differentiation, e.g. Hirschsprung disease. Expression studies in developing mice suggest that the proto-oncogene RET plays a role in neurocrest differentiation. In humans expression of RT is limited to certain tumor

  10. Founder effect of the RET C611Y mutation in multiple endocrine neoplasia 2A in Denmark

    DEFF Research Database (Denmark)

    Mathiesen, Jes Sloth; Kroustrup, Jens Peter; Vestergaard, Peter

    2017-01-01

    BACKGROUND: Multiple endocrine neoplasia (MEN) 2A and 2B are caused by REarranged during Transfection (RET) germline mutations. In a recent nationwide study we reported of an unusually high prevalence (33%) of families with the C611Y mutation and hypothesized that this might be due to a founder...... effect. We conducted the first nationwide study of haplotypes in MEN2A families aiming to investigate the relatedness and occurrence of de novo mutations among Danish families carrying similar mutations. METHODS: The study included 21 apparently unrelated MEN2A families identified from a nationwide...... Danish RET cohort from 1994 to 2014. Twelve, two, two, three and two families carried the C611Y, C618F, C618Y, C620R and C634R mutation, respectively. Single nucleotide polymorphism chip data and identity by descent analysis were used to assess relatedness. RESULTS: A common founder mutation was found...

  11. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma

    OpenAIRE

    Silva, Adriana Madeira Alvares da [UNIFESP; Maciel, Rui Monteiro de Barros [UNIFESP; Dias-da-Silva, Magnus Régios [UNIFESP; Toledo, Silvia Regina Caminada de [UNIFESP; De Carvalho, Marcos B.; Cerutti, Janete Maria [UNIFESP

    2003-01-01

    Familial medullary thyroid carcinoma is related to germ-line mutations in the RET oncogene, mainly in cysteine codon 10 or 11, whereas noncysteine mutations in codons 13 - 15 are rare. We now report a new missense point mutation in exon 8 of the RET gene (1597G-->T) corresponding to a Gly(533)Cys substitution in the cystein-rich domain of RET protein in 76 patients from a 6-generation Brazilian family with 229 subjects, with ascendants from Spain. It is likely that the mutation causes familia...

  12. Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study.

    Science.gov (United States)

    Mathiesen, Jes Sloth; Habra, Mouhammed Amir; Bassett, John Howard Duncan; Choudhury, Sirazum Mubin; Balasubramanian, Sabapathy Prakash; Howlett, Trevor A; Robinson, Bruce G; Gimenez-Roqueplo, Anne-Paule; Castinetti, Frederic; Vestergaard, Peter; Frank-Raue, Karin

    2017-06-01

    The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC), the A883F mutation has been reclassified from the highest to the high-risk level, although no well-defined risk profile for this mutation exists. To create a risk profile for the A883F mutation for appropriate classification among the ATA risk levels. Retrospective analysis. International collaboration. Included were 13 A883F carriers. The intervention was thyroidectomy. Earliest age of MTC, regional lymph node metastases, distant metastases, age-related penetrance of MTC and pheochromocytoma (PHEO), overall and disease-specific survival, and biochemical cure rate. One and three carriers were diagnosed at age 7 to 9 years (median, 7.5 years) with a normal thyroid and C-cell hyperplasia, respectively. Nine carriers were diagnosed with MTC at age 10 to 39 years (median, 19 years). The earliest age of MTC, regional lymph node metastasis, and distant metastasis was 10, 20, and 20 years, respectively. Fifty percent penetrance of MTC and PHEO was achieved by age 19 and 34 years, respectively. Five- and 10-year survival rates (both overall and disease specific) were 88% and 88%, respectively. Biochemical cure for MTC at latest follow-up was achieved in 63% (five of eight carriers) with pertinent data. MTC of A883F carriers seems to have a more indolent natural course compared with that of M918T carriers. Our results support the classification of the A883F mutation in the ATA high-risk level. Copyright © 2017 Endocrine Society

  13. Germline mutation of RET proto-oncogene’s exons 17 and 18 in Iranian medullary thyroid carcinoma patients

    Directory of Open Access Journals (Sweden)

    Marjan Zarif Yeganeh

    2017-03-01

    Full Text Available Background: Thyroid carcinoma is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC approximately accounts for 5-10% of all thyroid carcinoma. Nowadays, it is obviously, the mutations in REarranged during transfection (RET proto-oncogene, especially, mutations in exons 10, 11 and 16 are associated with MTC pathogenesis and occurrence. Thus, early diagnosis of MTC by mutation detection in RET proto-oncogene allows to identify patients who do not have any developed symptoms. The aim of this study was to screening of germline mutations in RET proto-oncogene exons 17 and 18 in MTC patients and their first degree relatives in Iranian population. Methods: In this cross-sectional study, three hundred eleven participates (190 patients, 121 their relatives were referred to endocrine research center, Shahid Beheshti University of Medical Science during September 2013 until September 2015. The inclusion criteria were pathological and clinical diagnosis. After whole blood sampling, genomic DNA was extracted from peripheral blood leucocytes using the standard Salting Out/Proteinase K method. Nucleotide change detection in exons 17 and 18 was performed using PCR and direct DNA sequencing methods. Results: In this study, twenty missense mutations [CGC>TGC, c.2944C>T, p.Arg982Cys (rs17158558] which included 16 heterozygote and 4 homozygote mutations were found in codon 982 (exon 18. In the present study, 154 G>A (rs2742236 and 4 C>T (rs370072408 nucleotide changes were detected in exons 18 and intron 17 respectively. There was no mutation in exon 17. Conclusion: It seems that because of arginine to cysteine substitutions in RET tyrosine kinase protein structure and its polyphen score (0.955 and SIFT score (0.01 the mutation in codon 982 (exon 18 could be have pathogenic effects. On the other hands, the mentioned mutation frequency was 6.4% among MTC patients, so this mutation of exon 18 could be checked in genetic screening tests of RET

  14. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

    Directory of Open Access Journals (Sweden)

    Man-Ting So

    Full Text Available Rare (RVs and common variants of the RET gene contribute to Hirschsprung disease (HSCR; congenital aganglionosis. While RET common variants are strongly associated with the commonest manifestation of the disease (males; short-segment aganglionosis; sporadic, rare coding sequence (CDS variants are more frequently found in the lesser common and more severe forms of the disease (females; long/total colonic aganglionosis; familial.Here we present the screening for RVs in the RET CDS and intron/exon boundaries of 601 Chinese HSCR patients, the largest number of patients ever reported. We identified 61 different heterozygous RVs (50 novel distributed among 100 patients (16.64%. Those include 14 silent, 29 missense, 5 nonsense, 4 frame-shifts, and one in-frame amino-acid deletion in the CDS, two splice-site deletions, 4 nucleotide substitutions and a 22-bp deletion in the intron/exon boundaries and 1 single-nucleotide substitution in the 5' untranslated region. Exonic variants were mainly clustered in RET the extracellular domain. RET RVs were more frequent among patients with the most severe phenotype (24% vs. 15% in short-HSCR. Phasing RVs with the RET HSCR-associated haplotype suggests that RVs do not underlie the undisputable association of RET common variants with HSCR. None of the variants were found in 250 Chinese controls.

  15. Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC : Two novel mutations and one de novo mutation for MEN 2A

    NARCIS (Netherlands)

    Landsvater, RM; Jansen, RPM; Hofstra, RMW; Buys, CHCM; Lips, CJM; vanAmstel, HKP

    Hereditary C-cell carcinoma is encountered in multiple endocrine neoplasia type 2A (MEN 2A), MEN 2B, and familial medullary thyroid carcinoma (FMTC). Mutations of the RET proto-oncogene are associated with all three diseases. To obtain an insight into the molecular heterogeneity of MEN 2 syndromes

  16. A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.

    Science.gov (United States)

    Bethanis, Sotirios; Koutsodontis, George; Palouka, Theodosia; Avgoustis, Christos; Yannoukakos, Drakoulis; Bei, Thalia; Papadopoulos, Savas; Linos, Dimitrios; Tsagarakis, Stylianos

    2007-01-01

    Multiple endocrine neoplasia type 2A (MEN2A) is a syndrome of familial neoplasias characterized by medullary thyroid carcinoma (MTC), pheochromocytoma and hyperplasia of the parathyroid glands. RET protooncogene mutations are responsible for MEN 2A. Mutations in exons 10 or 11 have been identified in more than 96% of patients with MEN 2A. We herein report for the first time a patient with MEN 2A harboring a mutation (Gly(533)Cys) in exon 8. A 66-year old male patient was referred to our department for bilateral adrenal nodules. The patient's family history was remarkable in that his mother had pheochromocytoma. Biochemical evaluation and findings of the magnetic resonance imaging of the adrenals were compatible with the diagnosis of bilateral pheochromocytomas. The patient underwent laparoscopic bilateral adrenalectomy and histological examination confirmed the preoperative diagnosis of pheochromocytoma. Absence of phenotypic characteristics of VHL or NF1 and elevated calcitonin levels both basal and post pentagastrin stimulation, raised the possibility of MEN 2A syndrome. Total thyroidectomy was performed and histological examination showed the presence of MTC. Direct sequencing of exon 8 from the patient's genomic DNA revealed the mutation c.1,597G-->T (Gly533Cys). Although this missense point mutation has been associated with familial MTC (FMTC), to the best of our knowledge mutations in exon 8 have not previously been identified in patients with MEN 2A. In conclusion, in patients with clinical suspicion of MEN 2A syndrome, analysis of RET exon 8 should be considered when the routine evaluation of MEN 2A-associated mutations is negative. Furthermore, patients with FMTC and exon 8 mutations should also be screened for pheochromocytoma.

  17. RET is a potential tumor suppressor gene in colorectal cancer

    Science.gov (United States)

    Luo, Yanxin; Tsuchiya, Karen D.; Park, Dong Il; Fausel, Rebecca; Kanngurn, Samornmas; Welcsh, Piri; Dzieciatkowski, Slavomir; Wang, Jianping; Grady, William M.

    2012-01-01

    Cancer arises as the consequence of mutations and epigenetic alterations that activate oncogenes and inactivate tumor suppressor genes. Through a genome-wide screen for methylated genes in colon neoplasms, we identified aberrantly methylated RET in colorectal cancer. RET, a transmembrane receptor tyrosine kinase and a receptor for the GDNF-family ligands, was one of the first oncogenes to be identified and has been shown to be an oncogene in thyroid cancer and pheochromocytoma. However, unexpectedly, we found RET is methylated in 27% of colon adenomas and in 63% of colorectal cancers, and now provide evidence that RET has tumor suppressor activity in colon cancer. The aberrant methylation of RET correlates with decreased RET expression, whereas the restoration of RET in colorectal cancer cell lines results in apoptosis. Furthermore, in support of a tumor suppressor function of RET, mutant RET has also been found in primary colorectal cancer. We now show that these mutations inactivate RET, which is consistent with RET being a tumor suppressor gene in the colon. These findings suggest that the aberrant methylation of RET and the mutational inactivation of RET promote colorectal cancer formation and that RET can serve as a tumor suppressor gene in the colon. Moreover, the increased frequency of methylated RET in colon cancers compared to adenomas suggests RET inactivation is involved in the progression of colon adenomas to cancer. PMID:22751117

  18. A rare mutation in the RET-protooncogen associated with mixed medullary-follicular micro-carcinoma of the thyroid gland

    Energy Technology Data Exchange (ETDEWEB)

    Richter, K.; Huwe, A.; Boldt, H.; Dresel, S. [Nuklearmedizinische Klinik, HELIOS-Klinikum Berlin-Buch (Germany); Geipel, D. [St.-Hedwig-Krankenhaus, Bereich Endokrine Chirurgie (Germany); Mairinger, T. [Inst. fuer Pathologie, HELIOS-Klinikum Emil von Behring (Germany); Schwabe, M. [Inst. fuer Pathologie, Charite Berlin Campus Mitte (Germany)

    2008-07-01

    Medullary thyroid carcinoma (MTC) arises from parafollicular C-cells of the thyroid and accounts for 1% to 10% of all thyroid cancers (1). MTC can be sporadic or hereditary. Hereditary MTC represents 20% to 30% of all MTC with an autosomal dominant pattern of transmission and a high degree of penetrance (>90%). It can be transmitted as a single entity (sporadic), familial MTC (FMTC), or it can arise as part of a multiple endocrine neoplasia (MEN) syndrome type 2A or 2B. Both genders are equally affected. (1, 9) The identification of hereditary MTC has been facilitated in recent years by the direct analysis of germline point mutations of the RET(rearranged during transfection)-protooncogene, a 21 exon gene that encodes a plasma membrane-bound tyrosine kinase receptor, localised on chromosome 10q11.2, which is expressed in tissues derived from the neural crest. To date codon mutations in nine different exons were identified (7, 8, 16, 22, 29) causing MEN 2A (MTC in combination with pheochromocytoma and hyperparathyroidism, including rare variants with Hirschsprung's disease and cutaneous lichen amyloidosis), FMTC (MTC as a sole disease phenotype) and MEN 2B (MTC in combination with pheochromocytoma, multiple mucosa neuromas, and marfanoid habitus). The most common mutation, accounting for over 80% of all mutations associated with MEN 2A (or Sipple's) syndrome affects codon 634 in exon 11 of the RET-protooncogene. Other mutations affect codon 630 in exon 11, and codons 609, 611, 618, 620 in exon 10 - they also cause FMTC, although some have a classic MEN 2A syndrome. 5% to 10% of families with FMTC have mutations that affect codons 768, 790, 791 in exon 13: codons 804, 844 in exon 14, and codon 891 in exon 15 (3, 4, 10). The much more aggressive MEN 2B is caused by a single mutation converting a methionine into a threonine at codon 918 in exon 16, and has been identified in approximately 95% of patients with MEN 2B. Other rare mutations associated with MEN 2

  19. Plasma levels of calcitonin in medullary thyroid carcinoma patients with and without the RET proto-oncogene mutations in exons 10 and 11

    Directory of Open Access Journals (Sweden)

    Samira Ehyayi

    2017-09-01

    Conclusion: Routine measurement of calcitonin has been investigated as a screening method for the diagnosis of medullary thyroid carcinoma patients. Nevertheless, additional data are required to definitely support routine measurement of calcitonin due to the role of RET proto-oncogene.

  20. Anmeldelse : Howard Zehr: Genoprettende Ret

    DEFF Research Database (Denmark)

    Adrian, Lin

    2010-01-01

    Anmeldelse af Howard Zehr: Genoprettende ret, der udkom i 2008. Oversat fra engelsk: Restorative Justice Udgivelsesdato: august 2010......Anmeldelse af Howard Zehr: Genoprettende ret, der udkom i 2008. Oversat fra engelsk: Restorative Justice Udgivelsesdato: august 2010...

  1. Detección de una mutación no estándar en el Proto-oncogen RET por mutagénesis dirigida Detection of a non-standard mutation in the ret protoncogene by site directed mutagenesis

    Directory of Open Access Journals (Sweden)

    Sebastián Real

    2005-03-01

    Full Text Available El síndrome de MEN2A es una enfermedad autosómica dominante que se caracteriza por el desarrollo de cáncer medular de tiroides, feocromocitoma e hiperplasia de paratiroides. Mutaciones en el ret proto-oncogén se asocian con MEN2A, con una penetrancia cercana al 100%. El gen se encuentra en el cromosoma 10q11.2 y codifica para una proteína transmembrana con función de receptor del tipo tirosina quinasa. Mutaciones que afectan el dominio extracelular de la proteína estimulan la dimerización espontánea del receptor y un aumento de la actividad de tirosina quinasa basal. El codón 634 codifica para una cisteína, y es considerado un sitio hot-spot por encontrarse mutado en el 85% de las familias con MEN2A. Para este sitio, nuestro grupo desarrolló en 2002 una metodología de detección indirecta y económica. Ante una familia sospechada de MEN2A, se aplicó esta estrategia, que reveló un codón 634 sano. Por posterior secuenciación se confirmó que el paciente índice portaba una mutación en el codón 611. Se desarrolló una nueva estrategia familia-específica por PCR mutagénica, que permitió diagnosticar en nuestro país a todos los integrantes de la familia con costos accesibles. Un niño en el cual se halló la mutación, fue tiroidectomizado preventivamente, y a la fecha goza de buena salud. De esta manera, combinando la estrategia de detección de mutaciones en el sitio hot-spot y un posterior diseño de otra metodología familia-específica se pudo diagnosticar e intervenir preventivamente a la familia, sin enviar todas las muestras al extranjero.MEN2A is an autosomic dominant disease, characterized by medullary thyroid cancer, pheochromocytoma and parathyroid hyperplasia. Mutations in the ret proto-oncogene are associated with this disease, with almost 100% of pennetrance. The gene, situated on chromosome 10q11.2, codes for a transmembrane protein with a tirosinkinase-like receptor function. Mutations that affect its

  2. Konsulent året rundt

    DEFF Research Database (Denmark)

    Stenderup, Mogens Larsen; Næsby, Torben

    Udgangspunktet for indholdet i Konsulent året rundt har været konsulenttjenesten i Aalborg Kommunes Reggio Emilia projekt. Konsulenter spiller en væsentlig rolle i de pædagogiske analyser og fungerer som en helt integreret del af praksis i denne filosofi. Derfor får konsulentarbejdet en helt...

  3. Sediments of a retting yard

    Digital Repository Service at National Institute of Oceanography (India)

    Remani, K.N.; Venugopal, P.; Devi, K.S.; Unnithan, R.V.

    (av. 46.8 and 92.3 mg/g respectively) compared to the reference station (20.6 and 48.9 mg/g) and published data on estuarine sediments.C/N ratios were consistently higher in the retting yard. Organic nitrogen, however,did not show this trend. Annual...

  4. ret en daarna

    NARCIS (Netherlands)

    Dommering, E.; Geus, M.J.; Hins, A.W.; Kroes, Q.R.; Nieuwenhuis, A.J.; Pietermaat, E.C.; Turner, C.J.; Voorhoof, D.

    2013-01-01

    In de zaak Féret1 veroordeelde het EHRM de haatzaaiende politicus voor discriminatie en aanzetten tot racisme, zonder dat in concreto een daad tot aanzetten van geweld of discriminatie door de nationale rechter was vastgesteld. Dit blijft, ondanks interne discussie in het Hof, vaste jurisprudentie.

  5. Retort to Religious Critics of RET.

    Science.gov (United States)

    Nardi, Thomas J.

    This paper is concerned with people who contact clergymen for counseling who could benefit from the short-term directive therapeutic approach of Rational Emotive Therapy (RET) and the reluctance of clergymen to use RET. The integration of the precepts of Christianity and the concepts of RET is considered. This paper is specifically a response to…

  6. Comparative Evaluation of Physical and Structural Properties of Water Retted and Non-retted Flax Fibers

    Directory of Open Access Journals (Sweden)

    Vijaya Raghavan

    2013-10-01

    Full Text Available Flax stems of Modran variety were subjected to water retting under laboratory conditions and its physical properties were compared with non-retted fibers. Physical properties including percentage of impurities, weighted average length, linear density, tenacity and elongation were analyzed and the results were compared. The analysis of retted and non-retted flax fibers showed that retting is the most important step in the processing of flax fibers and it directly affects quality attributes like strength, fineness, and homogeneity. Scanning Electron microscope images of fibers were also analyzed and the retted fibers showed much cleaner surface when compared to decorticated non-retted fibers.

  7. Proteomic Identification of DNA-PK Involvement within the RET Signaling Pathway.

    Directory of Open Access Journals (Sweden)

    Lyle J Burdine

    Full Text Available Constitutive activation of the Rearranged during Transfection (RET proto-oncogene leads to the development of MEN2A medullary thyroid cancer (MTC. The relatively clear genotype/phenotype relationship seen with RET mutations and the development of MEN2A is unusual in the fact that a single gene activity can drive the progression towards metastatic disease. Despite knowing the oncogene responsible for MEN2A, MTC, like most tumors of neural crest origin, remains largely resistant to chemotherapy. Constitutive activation of RET in a SK-N-MC cell line model reduces cell sensitivity to chemotherapy. In an attempt to identify components of the machinery responsible for the observed RET induced chemoresistance, we performed a proteomic screen of histones and associated proteins in cells with a constitutively active RET signaling pathway. The proteomic approach identified DNA-PKcs, a DNA damage response protein, as a target of the RET signaling pathway. Active DNA-PKcs, which is phosphorylated at site serine 2056 and localized to chromatin, was elevated within our model. Treatment with the RET inhibitor RPI-1 significantly reduced s2056 phosphorylation in RET cells as well as in a human medullary thyroid cancer cell line. Additionally, inhibition of DNA-PKcs activity diminished the chemoresistance observed in both cell lines. Importantly, we show that activated DNA-PKcs is elevated in medullary thyroid tumor samples and that expression correlates with expression of RET in thyroid tumors. These results highlight one mechanism by which RET signaling likely primes cells for rapid response to DNA damage and suggests DNA-PKcs as an additional target in MTC.

  8. Forårets urter

    DEFF Research Database (Denmark)

    Jensen, Kirsten

    2016-01-01

    Om foråret kommer der liv i naturen. Planter og dyr får en ny begyndelse. Fugleæg, dyreunger, små nye træer i skovbunden og lysegrønne planter dukker op. Forårsmånederne hedder marts, april og maj. Her pibler alt det grønne op ad jorden. Meget af det kan faktisk spises, selvom vi kalder det ukrud...

  9. RET fusions in a small subset of advanced colorectal cancers at risk of being neglected.

    Science.gov (United States)

    Pietrantonio, F; Di Nicolantonio, F; Schrock, A B; Lee, J; Morano, F; Fucà, G; Nikolinakos, P; Drilon, A; Hechtman, J F; Christiansen, J; Gowen, K; Frampton, G M; Gasparini, P; Rossini, D; Gigliotti, C; Kim, S T; Prisciandaro, M; Hodgson, J; Zaniboni, A; Chiu, V K; Milione, M; Patel, R; Miller, V; Bardelli, A; Novara, L; Wang, L; Pupa, S; Sozzi, G; Ross, J; Di Bartolomeo, M; Bertotti, A; Ali, S; Trusolino, L; Falcone, A; de Braud, F; Cremolini, C

    2018-03-10

    Recognition of rare molecular subgroups is a challenge for precision oncology and may lead to tissue-agnostic approval of targeted agents. Here we aimed to comprehensively characterize the clinical, pathological and molecular landscape of RET rearranged metastatic colorectal cancer (mCRC). In this case series, we compared clinical, pathological and molecular characteristics of 24 RET rearranged mCRC patients with those of a control group of 291 patients with RET negative tumors. RET rearranged and RET negative mCRCs were retrieved by systematic literature review and by taking advantage of three screening sources: 1) Ignyta's phase 1/1b study on RXDX-105 (NCT01877811); 2) cohorts screened at two Italian and one South Korean Institutions; 3) Foundation Medicine Inc. database. Next generation sequencing data were analyzed for RET rearranged cases. RET fusions were more frequent in older patients (median age of 66 vs. 60 years, p = 0.052), with ECOG PS 1-2 (90% vs. 50%, p = 0.02), right-sided (55% vs. 32%, P=0.013), previously unresected primary tumors (58% vs. 21%, P<0.001), RAS and BRAF wild-type (100% vs. 40%, p < 0.001) and MSI-high (48% vs. 7%, P<0.001). Notably, 11 (26%) out of 43 patients with right-sided, RAS and BRAF wild-type tumors harbored a RET rearrangement. At a median follow-up of 45.8 months, patients with RET fusion-positive tumors showed a significantly worse OS when compared with RET-negative ones (median OS 14.0 vs. 38.0 months, HR: 4.59; 95% CI, 3.64-32.66; P<0.001). In the multivariable model, RET rearrangements were still associated with shorter OS [HR: 2.97; 95% CI, 1.25-7.07; P=0.014], while primary tumor location, RAS and BRAF mutations and MSI status were not. Though very rare, RET rearrangements define a new subtype of mCRC that shows poor prognosis with conventional treatments and is therefore worth of a specific management.

  10. Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events

    Directory of Open Access Journals (Sweden)

    Castaño Luis

    2011-10-01

    Full Text Available Abstract Background RET is the major gene associated to Hirschsprung disease (HSCR with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of both RET rare variants (RVs and common variants (CVs in the context of the disease. Methods RET mutational screening was performed by dHPLC and direct sequencing for the identification of RVs. In addition Taqman technology was applied for the genotyping of 3 RET CVs previously associated to HSCR, including a variant lying in an enhancer domain within RET intron 1 (rs2435357. Statistical analyses were performed using the SPSS v.17.0 to analyze the distribution of the variants. Results Our results confirm the strongest association to HSCR for the "enhancer" variant, and demonstrate a significantly higher impact of it in male versus female patients. Integration of the RET RVs and CVs analysis showed that in 91.66% of cases with both kinds of mutational events, the enhancer allele is in trans with the allele bearing the RET RV. Conclusions A gender effect exists on both the transmission and distribution of rare coding and common HSCR causing mutations. In addition, these RET CVs and RVs seem to act in a synergistic way leading to HSCR phenotype.

  11. Identification of selective inhibitors of RET and comparison with current clinical candidates through development and validation of a robust screening cascade [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Amanda J. Watson

    2016-05-01

    Full Text Available RET (REarranged during Transfection is a receptor tyrosine kinase, which plays pivotal roles in regulating cell survival, differentiation, proliferation, migration and chemotaxis. Activation of RET is a mechanism of oncogenesis in medullary thyroid carcinomas where both germline and sporadic activating somatic mutations are prevalent.   At present, there are no known specific RET inhibitors in clinical development, although many potent inhibitors of RET have been opportunistically identified through selectivity profiling of compounds initially designed to target other tyrosine kinases. Vandetanib and cabozantinib, both multi-kinase inhibitors with RET activity, are approved for use in medullary thyroid carcinoma, but additional pharmacological activities, most notably inhibition of vascular endothelial growth factor - VEGFR2 (KDR, lead to dose-limiting toxicity. The recent identification of RET fusions present in ~1% of lung adenocarcinoma patients has renewed interest in the identification and development of more selective RET inhibitors lacking the toxicities associated with the current treatments.   In an earlier publication [Newton et al, 2016; 1] we reported the discovery of a series of 2-substituted phenol quinazolines as potent and selective RET kinase inhibitors. Here we describe the development of the robust screening cascade which allowed the identification and advancement of this chemical series.  Furthermore we have profiled a panel of RET-active clinical compounds both to validate the cascade and to confirm that none display a RET-selective target profile.

  12. Ret receptor tyrosine kinase sustains proliferation and tissue maturation in intestinal epithelia

    DEFF Research Database (Denmark)

    Perea, Daniel; Guiu, Jordi; Hudry, Bruno

    2017-01-01

    Expression of the Ret receptor tyrosine kinase is a defining feature of enteric neurons. Its importance is underscored by the effects of its mutation in Hirschsprung disease, leading to absence of gut innervation and severe gastrointestinal symptoms. We report a new and physiologically significant...

  13. Retting of Flax by Aspergillus niger

    Science.gov (United States)

    De França, F. P.; Rosemberg, J. A.; De Jesus, A. M.

    1969-01-01

    In this study, retting was carried out by Aspergillus niger. The pH, galacturonic acid (GA), and total reducing sugar were determined; the end point was identified by the classic empirical processes and by the maximal GA content of the retting water. The process gave clear and resistent fibers, and the retting time was similar to that of current industrial processes with bacterial enzymes. Control of total acidity was not required, since the pH remained close to neutrality throughout the entire process. PMID:16349835

  14. Øret i skyen

    DEFF Research Database (Denmark)

    Søndergaard, Morten

    2015-01-01

    Da Etisk Råd afholder sit årlige møde på Utzon Centret i Ålborg i oktober 2010 er ingen af deltagerne på mødet klar over, at et bioteknologisk øre lytter med. Det er et resultat af flere ret utrolige tilfældigheder og sammenfald: Nogen har ved en fejl tændt højttalersystemet i udstillingsrummene...... under den smukke konferencesal med udsigt ud over Limfjorden. I udstillingsrummene står et værk af den Australske kunstner Stelarc, Internet Ear, som er en del af udstillingen BIOTOPIA – Art in the Wet Zone. Internet Ear er, rent skulpturelt, en eksakt kopi af kunstnerens egen arm, hvorpå han for ca. 4...... år siden fik et ekstra øre indopereret. Situationen der udspiller sig i Utzon Centret er på flere måder symptomatisk for en række aktuelle kulturelle og samfundsmæssige tendenser. Den er endvidere emblematisk for de udfordringer, en cyber-museologi står overfor....

  15. La retórica en Internet

    Directory of Open Access Journals (Sweden)

    Roberto Gamonal Arroyo

    2012-04-01

    Full Text Available La Retórica, una disciplina antigua que data del siglo V a.C., está muy presente enInternet, un medio de comunicación social que nació en el siglo XX. La AntigüedadClásica renace para esclarecer este fenómeno de las nuevas tecnologías de lainformación. La Retórica ayuda a explicar el intrincado concepto de Internet, afacilitar su práctica cotidiana y a su construcción de una forma ordenada y sistemática.

  16. Byggeri hele året 1

    DEFF Research Database (Denmark)

    Den voksende byggeaktivitet har medført, at både betydningen af og interessen for vinterbyggeri stadig øges. Denne tendens har været kraftigt understøttet af Boligministeriet, og Statens Byggeforskningsinstitut har derfor fundet det naturligt at sammenfatte tidligere anvisninger og de seneste års...

  17. Comparison of traditional field retting and Phlebia radiata Cel 26 retting of hemp fibres for fibre-reinforced composites

    DEFF Research Database (Denmark)

    Liu, Ming; Ale, Marcel Tutor; Kołaczkowski, Bartłomiej

    2017-01-01

    Classical field retting and controlled fungal retting of hemp using Phlebia radiata Cel 26 (a mutant with low cellulose degrading ability) were compared with pure pectinase treatment with regard to mechanical properties of the produced fibre/epoxy composites. For field retting a classification...

  18. Drosophila Cancer Models Identify Functional Differences between Ret Fusions.

    Science.gov (United States)

    Levinson, Sarah; Cagan, Ross L

    2016-09-13

    We generated and compared Drosophila models of RET fusions CCDC6-RET and NCOA4-RET. Both RET fusions directed cells to migrate, delaminate, and undergo EMT, and both resulted in lethality when broadly expressed. In all phenotypes examined, NCOA4-RET was more severe than CCDC6-RET, mirroring their effects on patients. A functional screen against the Drosophila kinome and a library of cancer drugs found that CCDC6-RET and NCOA4-RET acted through different signaling networks and displayed distinct drug sensitivities. Combining data from the kinome and drug screens identified the WEE1 inhibitor AZD1775 plus the multi-kinase inhibitor sorafenib as a synergistic drug combination that is specific for NCOA4-RET. Our work emphasizes the importance of identifying and tailoring a patient's treatment to their specific RET fusion isoform and identifies a multi-targeted therapy that may prove effective against tumors containing the NCOA4-RET fusion. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  19. EGFR, ALK, RET, KRAS and BRAF alterations in never-smokers with non-small cell lung cancer.

    Science.gov (United States)

    Dong, Y U; Ren, Weihong; Qi, Jun; Jin, B O; Li, Ying; Tao, Huiqing; Xu, Ren; Li, Yanqing; Zhang, Qinxian; Han, Baohui

    2016-04-01

    Non-small cell lung cancer (NSCLC), caused by various mutations in a spectrum of cancer driver genes, may have distinct pathological characteristics and drug responses. Extensive genetic screening and pathological characterization is required for the design of customized therapies to improve patient outcomes. Notably, NSCLC in never-smokers exhibits distinctive clinicopathological features, which are frequently associated with tumorigenic mutations, and thus may be treated as a unique disease entity. However, to the best of our knowledge, these mutations have not been extensively and accurately characterized in an NSCLC study with a large sample size. Therefore, the present study enrolled a large cohort of NSCLC patients, which consisted of 358 never-smokers, for the screening of genetic alterations in the epidermal growth factor receptor (EGFR), ret proto-oncogene (RET), anaplastic lymphoma kinase (ALK), Kirsten rat sarcoma viral oncogene homolog (KRAS) and B-Raf proto-oncogene serine/threonine kinase (BRAF) tumorigenic genes. It was identified that the mutation rate was 47.8, 7.5, 3.6, 1.4 and 0.3% for EGFR, ALK, KRAS, RET and BRAF, respectively. In addition, clinicopathological features associated with these mutations were characterized. EGFR mutations were more frequently observed in female and older patients. By contrast, KRAS mutations were more frequently detected in male patients, and ALK and RET translocations in younger patients. The cancer cells were frequently well-differentiated in carcinoma cases exhibiting EGFR mutations, however, were less differentiated in those with ALK translocations. In conclusion, the present study determined the frequency of oncogenic alterations and associated clinicopathological features in NSCLC exhibited by never-smokers using a large sample size. The results of the present study may enrich our knowledge of NSCLC in never-smokers and provide useful insights for improvement of the outcome of molecularly targeted therapies

  20. Retting effect of kenaf bast fiber by electron beam irradiation

    Energy Technology Data Exchange (ETDEWEB)

    Shin, Hye Kyoung; Kangm Hyo Kyoung; Jeun, Joon Pyo; Kang, Phil Hyun [Korea Atomic Energy Research Institute, Jeongeup (Korea, Republic of)

    2010-06-15

    Kenaf (Hibiscus cannabinus) retting were separated from a kenaf bast fiber by a combination of Electron beam irradiation (EBI) and NaOH solution treatment. The methods were based on a 6% NaOH solution treatment after various doses of EBI. FT-IR spectroscopy demonstrated that the content of lignin and hemicellulose in the retted kenaf fibers decreased as the EBI dose increased. Specifically, the lignin in the retted kenaf fiber treated with 300 kGy of EBI was almost completely removed. The morphology of retted kenaf fibers were characterized by SEM image, and the studies showed that the fibrillated degree of retted kenaf fibers treated with various EBI doses and was increased as EBI dose increased. The retted kenaf fibers treated with the EBI at 300 kGy was uniformly fibrillated with 10 {approx} 30 {mu}m diameters.

  1. Retting effect of kenaf bast fiber by electron beam irradiation

    International Nuclear Information System (INIS)

    Shin, Hye Kyoung; Kangm Hyo Kyoung; Jeun, Joon Pyo; Kang, Phil Hyun

    2010-01-01

    Kenaf (Hibiscus cannabinus) retting were separated from a kenaf bast fiber by a combination of Electron beam irradiation (EBI) and NaOH solution treatment. The methods were based on a 6% NaOH solution treatment after various doses of EBI. FT-IR spectroscopy demonstrated that the content of lignin and hemicellulose in the retted kenaf fibers decreased as the EBI dose increased. Specifically, the lignin in the retted kenaf fiber treated with 300 kGy of EBI was almost completely removed. The morphology of retted kenaf fibers were characterized by SEM image, and the studies showed that the fibrillated degree of retted kenaf fibers treated with various EBI doses and was increased as EBI dose increased. The retted kenaf fibers treated with the EBI at 300 kGy was uniformly fibrillated with 10 ∼ 30 μm diameters

  2. Protein-tyrosine Phosphatase SHP2 Contributes to GDNF Neurotrophic Activity through Direct Binding to Phospho-Tyr687 in the RET Receptor Tyrosine Kinase*

    Science.gov (United States)

    Perrinjaquet, Maurice; Vilar, Marçal; Ibáñez, Carlos F.

    2010-01-01

    The signaling mechanisms by which neurotrophic receptors regulate neuronal survival and axonal growth are still incompletely understood. In the receptor tyrosine kinase RET, a receptor for GDNF (glial cell line-derived neurotrophic factor), the functions of the majority of tyrosine residues that become phosphorylated are still unknown. Here we have identified the protein-tyrosine phosphatase SHP2 as a novel direct interactor of RET and the first effector known to bind to phosphorylated Tyr687 in the juxtamembrane region of the receptor. We show that SHP2 is recruited to RET upon ligand binding in a cooperative fashion, such that both interaction with Tyr687 and association with components of the Tyr1062 signaling complex are required for stable recruitment of SHP2 to the receptor. SHP2 recruitment contributes to the ability of RET to activate the PI3K/AKT pathway and promote survival and neurite outgrowth in primary neurons. Furthermore, we find that activation of protein kinase A (PKA) by forskolin reduces the recruitment of SHP2 to RET and negatively affects ligand-mediated neurite outgrowth. In agreement with this, mutation of Ser696, a known PKA phosphorylation site in RET, enhances SHP2 binding to the receptor and eliminates the effect of forskolin on ligand-induced outgrowth. Together, these findings establish SHP2 as a novel positive regulator of the neurotrophic activities of RET and reveal Tyr687 as a critical platform for integration of RET and PKA signals. We anticipate that several other phosphotyrosines of unknown function in neuronal receptor tyrosine kinases will also support similar regulatory functions. PMID:20682772

  3. Protein-tyrosine phosphatase SHP2 contributes to GDNF neurotrophic activity through direct binding to phospho-Tyr687 in the RET receptor tyrosine kinase.

    Science.gov (United States)

    Perrinjaquet, Maurice; Vilar, Marçal; Ibáñez, Carlos F

    2010-10-08

    The signaling mechanisms by which neurotrophic receptors regulate neuronal survival and axonal growth are still incompletely understood. In the receptor tyrosine kinase RET, a receptor for GDNF (glial cell line-derived neurotrophic factor), the functions of the majority of tyrosine residues that become phosphorylated are still unknown. Here we have identified the protein-tyrosine phosphatase SHP2 as a novel direct interactor of RET and the first effector known to bind to phosphorylated Tyr(687) in the juxtamembrane region of the receptor. We show that SHP2 is recruited to RET upon ligand binding in a cooperative fashion, such that both interaction with Tyr(687) and association with components of the Tyr(1062) signaling complex are required for stable recruitment of SHP2 to the receptor. SHP2 recruitment contributes to the ability of RET to activate the PI3K/AKT pathway and promote survival and neurite outgrowth in primary neurons. Furthermore, we find that activation of protein kinase A (PKA) by forskolin reduces the recruitment of SHP2 to RET and negatively affects ligand-mediated neurite outgrowth. In agreement with this, mutation of Ser(696), a known PKA phosphorylation site in RET, enhances SHP2 binding to the receptor and eliminates the effect of forskolin on ligand-induced outgrowth. Together, these findings establish SHP2 as a novel positive regulator of the neurotrophic activities of RET and reveal Tyr(687) as a critical platform for integration of RET and PKA signals. We anticipate that several other phosphotyrosines of unknown function in neuronal receptor tyrosine kinases will also support similar regulatory functions.

  4. Break-apart interphase fluorescence in situ hybridization assay in papillary thyroid carcinoma: on the road to optimizing the cut-off level for RET/PTC rearrangements.

    Science.gov (United States)

    Colato, Chiara; Vicentini, Caterina; Cantara, Silvia; Pedron, Serena; Brazzarola, Paolo; Marchetti, Ivo; Di Coscio, Giancarlo; Chilosi, Marco; Brunelli, Matteo; Pacini, Furio; Ferdeghini, Marco

    2015-05-01

    Chromosomal rearrangements of the RET proto-oncogene is one of the most common molecular events in papillary thyroid carcinoma (PTC). However, their pathogenic role and clinical significance are still debated. This study aimed to investigate the prevalence of RET/PTC rearrangement in a cohort of BRAF WT PTCs by fluorescence in situ hybridization (FISH) and to search a reliable cut-off level in order to distinguish clonal or non-clonal RET changes. Forty BRAF WT PTCs were analyzed by FISH for RET rearrangements. As controls, six BRAFV600E mutated PTCs, 13 follicular adenomas (FA), and ten normal thyroid parenchyma were also analyzed. We performed FISH analysis on formalin-fixed, paraffin-embedded tissue using a commercially available RET break-apart probe. A cut-off level equivalent to 10.2% of aberrant cells was accepted as significant. To validate FISH results, we analyzed the study cohort by qRT-PCR. Split RET signals above the cut-off level were observed in 25% (10/40) of PTCs, harboring a percentage of positive cells ranging from 12 to 50%, and in one spontaneous FA (1/13, 7.7%). Overall, the data obtained by FISH matched well with qRT-PCR results. Challenging findings were observed in five cases showing a frequency of rearrangement very close to the cut-off. FISH approach represents a powerful tool to estimate the ratio between broken and non-broken RET tumor cells. Establishing a precise FISH cut-off may be useful in the interpretation of the presence of RET rearrangement, primarily when this strategy is used for cytological evaluation or for targeted therapy. © 2015 European Society of Endocrinology.

  5. Improvement of organoleptic quality of retted cassava products by alkali pretreatment of roots and addition of sodium nitrate during retting.

    Science.gov (United States)

    Ogbo, Frank C

    2003-12-15

    Alkali pretreatment of cassava roots before retting and addition of sodium nitrate during retting were used to manipulate the metabolism of microorganisms involved in cassava (Manihot esculenta Crantz) retting, as a method for removing the characteristic offensive odour of retted cassava products. Odour was assessed by organoleptic methods. The characteristics of fermentation of cassava by the traditional method (control) were as follows; aerobic mesophilic count (APC) on nutrient agar (NA) at 30 degrees C/48 h, attained a maximum of 2.3 x 10(7)/ml retting juice while counts on de Man Rogosa and Sharpe agar (MRS) at 30 degrees C/48 h were 1.6 x 10(8)/ml. Maximum titrable acidity was 0.062% lactic acid by weight of retting juice. Cassava was retted in 3 days and the product exhibited characteristic offensive odour. Addition of NaNO3 into retting water effectively removed odour at a concentration of 0.3 g/l. Maximum APC on NA/30 degrees C/48 h was 6.8 x 10(6)/ml. Counts on MRS/30 degrees C/48 h exceeded 2.4 x 10(9)/ml. Retting was complete in 3 days with a final titrable acidity of 0.068% of retting juice. Removal of odour likely resulted from selection of homo-fermentative lactic acid bacteria, thus producing mostly odourless lactic acid. Alkali pretreatment of roots before retting was efficacious in removing odour at a concentration of 10 g/l for 30 min. This fermentation was characterized by APC on NA/30 degrees C/48 h of 5.4 x 10(6)/ml; MRS/30 degrees C/48 h reached a maximum of only 10 x 10(4)/ml and correspondingly low titrable acidity of 0.003%. Low counts of lactic acid bacteria correlate well with the absence of odour in this sample. Both treatments did not adversely affect the detoxification process, yielding "foo-foo" with HCN levels lower than 10 mg/kg. Residual nitrates and nitrites of 30 mg/kg in the sodium nitrate-treated sample were also within the safe limits of 156 mg/kg allowed in many countries. Organoleptically improved samples were acceptable to

  6. Når politik og journalistik, ret og krig blandes

    DEFF Research Database (Denmark)

    Harste, Gorm

    2007-01-01

    Artiklen analyserer den manglende politiske dømmekraft som er opstået i debatten om Christoffer Guldbrandsens tv'dokumentar 'Den hemmelige krig'. Den offentlige og politiske debat herom er en erstatningsdebat for den kommisionsdomstol, der burde nedsættes om de løgne, der har været fremsat 2002 -...

  7. Forårets konflikter godt for den danske model

    DEFF Research Database (Denmark)

    Scheuer, Steen

    2008-01-01

    Den store vinder ved forårets konflikter var den danske model for aftaler på arbejdsmarkedet. De offentlige fagforeninger fik sig en lærestreg, da regeringen og Folketinget til de flestes overraskelse lod de lovlige konflikter løbe i ugevis. For hermed tvang man parterne, og især forbundene, til...

  8. Effektivitet af naturligt drevne radontiltag året rundt

    DEFF Research Database (Denmark)

    Haker Høegh, Britt; Rasmussen, Torben Valdbjørn

    Denne rapport omhandler projektet Effektivitet af naturligt drevne radontiltag året rundt. Projektet er et spireprojekt finansieret af Innovationsnetværket InnoBYG og Forsknings- og Innovationsstyrelsen. Projektet er gennemført af Teknologisk Institut i samarbejde med Statens Byggeforskningsinsti...

  9. Lentiviral expression of retinal guanylate cyclase-1 (RetGC1 restores vision in an avian model of childhood blindness.

    Directory of Open Access Journals (Sweden)

    Melissa L Williams

    2006-06-01

    Full Text Available Leber congenital amaurosis (LCA is a genetically heterogeneous group of retinal diseases that cause congenital blindness in infants and children. Mutations in the GUCY2D gene that encodes retinal guanylate cyclase-1 (retGC1 were the first to be linked to this disease group (LCA type 1 [LCA1] and account for 10%-20% of LCA cases. These mutations disrupt synthesis of cGMP in photoreceptor cells, a key second messenger required for function of these cells. The GUCY1*B chicken, which carries a null mutation in the retGC1 gene, is blind at hatching and serves as an animal model for the study of LCA1 pathology and potential treatments in humans.A lentivirus-based gene transfer vector carrying the GUCY2D gene was developed and injected into early-stage GUCY1*B embryos to determine if photoreceptor function and sight could be restored to these animals. Like human LCA1, the avian disease shows early-onset blindness, but there is a window of opportunity for intervention. In both diseases there is a period of photoreceptor cell dysfunction that precedes retinal degeneration. Of seven treated animals, six exhibited sight as evidenced by robust optokinetic and volitional visual behaviors. Electroretinographic responses, absent in untreated animals, were partially restored in treated animals. Morphological analyses indicated there was slowing of the retinal degeneration.Blindness associated with loss of function of retGC1 in the GUCY1*B avian model of LCA1 can be reversed using viral vector-mediated gene transfer. Furthermore, this reversal can be achieved by restoring function to a relatively low percentage of retinal photoreceptors. These results represent a first step toward development of gene therapies for one of the more common forms of childhood blindness.

  10. Efficacy of rational emotive therapy (RET) with children: a critical re-appraisal.

    Science.gov (United States)

    Gossette, R L; O'Brien, R M

    1993-03-01

    Proponents of rational-emotive therapy (RET) advocate its use within the school curriculum to forestall future maladjustment through the early detection and eradication of irrational beliefs. A review of 33 unpublished dissertations and four published reports found RET effective in about 25% of comparisons with wait-list, placebo, and other treatment conditions. The major effects of RET were changes in scores on self-report measures of irrational beliefs, less on emotional distress, and little or no change in behavior; essentially the same pattern of effects previously found in a similar analysis of RET in adult populations. Little justification was found for continued use of RET in schools.

  11. Radiological Effluent Technical Specifications (RETS) implementation, Kewaunee Nuclear Power Plant

    International Nuclear Information System (INIS)

    Serrano, W.; Akers, D.W.

    1985-06-01

    A review of the Radiological Effluent Technical Specifications (RETS) for the Kewaunee Nuclear Power Plant was performed. The principal review guidelines used were NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants,'' and Draft 7'' of NUREG-0472, Revision 3, ''Radiological Effluent Technical Specifications for Pressurized Water Reactors.'' Draft submittals were discussed with the Licensee by the NRC staff until all items requiring changes to the Technical Specifications were resolved. The Licensee then submitted final proposed RETS to the NRC which were evaluated and found to be in compliance with the NRC review guidelines. The proposed Offsite Dose Calculation Manual and the Radiological Environmental Monitoring Manual were reviewed and generally found to be in compliance with the NRC review guidelines

  12. Replication pattern of the pericentromeric region of chromosome 10q and expression of the RET protooncogene.

    Science.gov (United States)

    Cinti, R; Schena, F; Passalacqua, M; Ceccherini, I; Ravazzolo, R

    2004-08-15

    Regulation of the RET gene is highly specific during embryo development and is strictly tissue-specific. Control of transcription depends on mechanisms influenced by epigenetic processes, in particular, histone acetylation at regions flanking the 5' end of the gene. Since the RET gene is mapped in the pericentromeric region of the human chromosome 10, the implication of epigenetic processes is even more striking and worth to be investigated in an extended chromosomal tract. One experimental approach to study the chromatin status in relationship with gene transcription is to assess the replication timing, which we did by using fluorescent in situ hybridization in cells expressing or not expressing the RET gene. By using probes spanning a 700-kb genomic region from the RET locus toward the centromere, we found a relationship between RET expression and early replication. Different patterns were observed between cells naturally expressing RET and cells induced to expression of RET by treatment with sodium butyrate, an inhibitor of histone deacetylases. Three-dimensional analysis of the nuclear localization of fluorescent signals by confocal microscopy showed difference of localization between the RET probe and a probe for a housekeeping gene, G3PDH, located at 12p13.3, in cells that do not express RET, in accordance with previous data for other genes and chromosomal regions. However, RET-expressing cells showed a localization of signals which was not consistent with that expected for expressed genes.

  13. Ret Finger Protein: An E3 Ubiquitin Ligase Juxtaposed to the XY Body in Meiosis

    Directory of Open Access Journals (Sweden)

    Isabelle Gillot

    2009-01-01

    Full Text Available During prophase I of male meiosis, the sex chromosomes form a compact structure called XY body that associates with the nuclear membrane of pachytene spermatocytes. Ret Finger Protein is a transcriptional repressor, able to interact with both nuclear matrix-associated proteins and double-stranded DNA. We report the precise and unique localization of Ret Finger Protein in pachytene spermatocytes, in which Ret Finger Protein takes place of lamin B1, between the XY body and the inner nuclear membrane. This localization of Ret Finger Protein does not seem to be associated with O-glycosylation or sumoylation. In addition, we demonstrate that Ret Finger Protein contains an E3 ubiquitin ligase activity. These observations lead to an attractive hypothesis in which Ret Finger Protein would be involved in the positioning and the attachment of XY body to the nuclear lamina of pachytene spermatocytes.

  14. HOXB5 cooperates with NKX2-1 in the transcription of human RET.

    Directory of Open Access Journals (Sweden)

    Jiang Zhu

    Full Text Available The enteric nervous system (ENS regulates peristaltic movement of the gut, and abnormal ENS causes Hirschsprung's disease (HSCR in newborns. HSCR is a congenital complex genetic disorder characterised by a lack of enteric ganglia along a variable length of the intestine. The receptor tyrosine kinase gene (RET is the major HSCR gene and its expression is crucial for ENS development. We have previously reported that (i HOXB5 transcription factor mediates RET expression, and (ii mouse with defective HOXB5 activity develop HSCR phenotype. In this study, we (i elucidate the underlying mechanisms that HOXB5 mediate RET expression, and (ii examine the interactions between HOXB5 and other transcription factors implicated in RET expression. We show that human HOXB5 binds to the promoter region 5' upstream of the binding site of NKX2-1 and regulates RET expression. HOXB5 and NKX2-1 form a protein complex and mediate RET expression in a synergistic manner. HSCR associated SNPs at the NKX2-1 binding site (-5G>A rs10900296; -1A>C rs10900297, which reduce NKX2-1 binding, abolish the synergistic trans-activation of RET by HOXB5 and NKX2-1. In contrast to the synergistic activation of RET with NKX2-1, HOXB5 cooperates in an additive manner with SOX10, PAX3 and PHOX2B in trans-activation of RET promoter. Taken together, our data suggests that HOXB5 in coordination with other transcription factors mediates RET expression. Therefore, defects in cis- or trans-regulation of RET by HOXB5 could lead to reduction of RET expression and contribute to the manifestation of the HSCR phenotype.

  15. Enhanced sensitivity of the RET proto-oncogene to ionizing radiation in vitro.

    Science.gov (United States)

    Volpato, Claudia Béu; Martínez-Alfaro, Minerva; Corvi, Raffaella; Gabus, Coralie; Sauvaigo, Sylvie; Ferrari, Pietro; Bonora, Elena; De Grandi, Alessandro; Romeo, Giovanni

    2008-11-01

    Exposure to ionizing radiation is a well-known risk factor for a number of human cancers, including leukemia and thyroid cancer. It has been known for a long time that exposure of cells to radiation results in extensive DNA damage; however, a small number of studies have tried to explain the mechanisms of radiation-induced carcinogenesis. The high prevalence of RET/PTC rearrangements in patients who have received external radiation, and the evidence of in vitro induction of RET rearrangements in human cells, suggest an enhanced sensitivity of the RET genomic region to damage by ionizing radiation. To assess whether RET is indeed more sensitive to radiations than other genomic regions, we used a COMET assay coupled with fluorescence in situ hybridization, which allows the measurement of DNA fragmentation in defined genomic regions of single cells. We compared the initial DNA damage of the genomic regions of RET, CXCL12/SDF1, ABL, MYC, PLA2G2A, p53, and JAK2 induced by ionizing radiation in both a lymphoblastoid and a fetal thyroid cell line. In both cell lines, RET fragmentation was significantly higher than in other genomic regions. Moreover, a differential distribution of signals within the COMET was associated with a higher percentage of RET fragments in the tail. RET was more susceptible to fragmentation in the thyroid-derived cells than in lymphoblasts. This enhanced susceptibility of RET to ionizing radiation suggests the possibility of using it as a radiation exposure marker.

  16. Association of RET Genetic Polymorphisms and Haplotypes with Papillary Thyroid Carcinoma in the Portuguese Population: A Case-Control Study

    Science.gov (United States)

    Santos, Marina; Azevedo, Teresa; Martins, Teresa; Rodrigues, Fernando J.; Lemos, Manuel C.

    2014-01-01

    Thyroid cancer has a multifactorial aetiology resulting from the interaction of genetic and environmental factors. Several low penetrance susceptibility genes have been identified but their effects often vary between different populations. Somatic point mutations and translocations of the REarranged during Transfection (RET) proto-oncogene are frequently found in thyroid cancer. The aim of this case-control study was to determine the effect of four well known RET single nucleotide polymorphisms (SNPs) on the risk for differentiated thyroid carcinoma. A total of 545 Portuguese patients and 543 controls were genotyped by PCR and restriction enzyme analysis, for the following SNPs: G691S (exon 11, rs1799939 G/A), L769L (exon 13, rs1800861 T/G), S836S (exon 14, rs1800862 C/T), and S904S (exon 15, rs1800863 C/G). The minor allele of S836S was overrepresented in patients with papillary thyroid carcinoma (PTC) when compared to controls (OR 1.57; 95% CI 1.05–2.35; p = 0.026). The GGTC haplotype was also overrepresented in PTC (OR 2.51; 95% CI 1.07–5.91; p = 0.029). No associations were found in follicular thyroid carcinoma (FTC). Multivariate logistic regression analysis showed no differences regarding gender, age at diagnosis, lymph node or distant metastasis. However, a near significant overrepresentation of the minor alleles of G691S and S904S was found in patients with tumours greater than 10 mm of diameter at diagnosis. These data suggest that the RET S836S polymorphism in exon 14 and the GGTC haplotype are risk factors for PTC, but not FTC, and that the G691S/S904S polymorphisms might be associated with tumour behaviour. PMID:25330015

  17. A estrutura retórica do verbete Spinoza

    Directory of Open Access Journals (Sweden)

    Marilena Chaui

    2009-12-01

    Full Text Available Propomos uma análise do verbete "Spinoza" do Dictionnaire Historique et Critique salientando a estrutura retórica do texto, em cujo centro se encontra a nova figura do ateu, construída por Bayle, o ateu especulativo ou "o ateu de sistema".The paper presents a study of the rhetorical framework of the article "Spinoza" in Bayle's Dictionnaire Historique et Critique and the new image of the atheist as athée de système.

  18. RET/PTC and PAX8/PPARγ chromosomal rearrangements in post-Chernobyl thyroid cancer and their association with I-131 radiation dose and other characteristics

    Science.gov (United States)

    Leeman-Neill, Rebecca J.; Brenner, Alina V.; Little, Mark P.; Bogdanova, Tetiana I.; Hatch, Maureen; Zurnadzy, Liudmyla Y.; Mabuchi, Kiyohiko; Tronko, Mykola D.; Nikiforov, Yuri E.

    2012-01-01

    Background Childhood exposure to I-131 from the 1986 Chernobyl accident led to a sharp increase in papillary thyroid carcinoma (PTC) incidence in regions surrounding the reactor. Data concerning the association between genetic mutations in PTCs and individual radiation doses are limited. Methods We performed mutational analysis of 62 PTCs diagnosed in a Ukrainian cohort of patients who were Chernobyl tumors and show different associations for point mutations and chromosomal rearrangements with I-131 dose and other factors. These data support the relationship between chromosomal rearrangements, but not point mutations, and I-131 exposure and point to a possible role of iodine deficiency in generation of RET/PTC rearrangements in these patients. PMID:23436219

  19. O cultivo retórico da escuta

    Directory of Open Access Journals (Sweden)

    Jorge Cardoso Filho

    2014-08-01

    Full Text Available Esse artigo discute o modo como, na cultura contemporânea, hábitos perceptivos podem ser cultivados de forma relacionada ao ambiente sociocultural e técnico, especificamente no campo da escuta musical. Delimita seu foco de investigação nas estratégias empregadas a fim de persuadir a escuta de algoe de determinado modo, demonstrando preocupação com a dimensão retórica atuante no campo da percepção musical. Aponta a necessidade de entendimento dos mecanismos pelos quais a escuta é formatada na relação com os gêneros musicais, com as estratégias de midiatização e com os padrões de sensibilidade. Por fim, toma as estratégias empregadas no processo produtivo de dois álbuns do gênero musical Rock como exemplos de atuação dessa retórica: o álbum The Joshua Tree (1987, da banda irlandesa U2, e Nevermind (1991, da banda estadunidense Nirvana.

  20. Linen Most Useful: Perspectives on Structure, Chemistry, and Enzymes for Retting Flax

    Science.gov (United States)

    Akin, Danny E.

    2013-01-01

    The components of flax (Linum usitatissimum) stems are described and illustrated, with reference to the anatomy and chemical makeup and to applications in processing and products. Bast fiber, which is a major economic product of flax along with linseed and linseed oil, is described with particular reference to its application in textiles, composites, and specialty papers. A short history of retting methods, which is the separation of bast fiber from nonfiber components, is presented with emphasis on water retting, field retting (dew retting), and experimental methods. Past research on enzyme retting, particularly by the use of pectinases as a potential replacement for the current commercial practice of field retting, is reviewed. The importance and mechanism of Ca2+ chelators with pectinases in retting are described. Protocols are provided for retting of both fiber-type and linseed-type flax stems with different types of pectinases. Current and future applications are listed for use of a wide array of enzymes to improve processed fibers and blended yarns. Finally, potential lipid and aromatic coproducts derived from the dust and shive waste streams of fiber processing are indicated. PMID:25969769

  1. Crosstalk between VEGF-A/VEGFR2 and GDNF/RET signaling pathways

    International Nuclear Information System (INIS)

    Tufro, Alda; Teichman, Jason; Banu, Nazifa; Villegas, Guillermo

    2007-01-01

    Vascular endothelial growth factor (VEGF-A) plays multiple roles in kidney development: stimulates cell proliferation, survival, tubulogenesis, and branching morphogenesis. However, the mechanism that mediates VEGF-A induced ureteric bud branching is unclear. Glial-derived neurotrophic factor (GDNF) signaling through tyrosine kinase c-RET is the major regulator of ureteric bud branching. Here we examined whether VEGF-A regulates RET signaling. We determined that ureteric bud-derived cells express the main VEGF-A signaling receptor, VEGFR2 and RET, by RT-PCR, immunoblotting, and immunocytochemistry. We show that the VEGF-A isoform VEGF 165 induces RET-tyr 1062 phosphorylation in addition to VEGFR2 autophosphorylation, that VEGF 165 and GDNF have additive effects on RET-tyr 1062 phosphorylation, and that VEGFR2 and RET co-immunoprecipitate. Functionally, VEGF 165 induces ureteric bud cell proliferation and branching morphogenesis. Similarly, in embryonic kidney explants VEGF 165 induces RET-tyr 1062 phosphorylation and upregulates GDNF. These findings provide evidence for a novel cooperative interaction between VEGFR2 and RET that mediates VEGF-A functions in ureteric bud cells

  2. Tipo/retórica. Una aproximación a la retórica tipográfica

    Directory of Open Access Journals (Sweden)

    Roberto Gamonal Arroyo

    2012-04-01

    Full Text Available A simple vista la Retórica y la Tipografía parecen dos disciplinas con poco en común, pero en este artículo veremos cómo estas dos materias, con muchos siglos de existencia, tienen nexos inquebrantables que abren nuevas vías de investigación. La letra es la representación verbal y visual de nuestro lenguaje y nuestro pensamiento. Su agrupación en palabras y oraciones conforman textos cuyo objetivo principal es persuadir al lector para ser leídas. Y esta persuasión la ejerce no sólo a través de su contenido, sino también de su forma.

  3. Comparative evaluation of RetCam vs. gonioscopy images in congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Raj V Azad

    2014-01-01

    Full Text Available Purpose: To compare clarity, exposure and quality of anterior chamber angle visualization in congenital glaucoma patients, using RetCam and indirect gonioscopy images. Design: Cross-sectional study Participants. Congenital glaucoma patients over age of 5 years. Materials and Methods: A prospective consecutive pilot study was done in congenital glaucoma patients who were older than 5 years. Methods used are indirect gonioscopy and RetCam imaging. Clarity of the image, extent of angle visible and details of angle structures seen were graded for both methods, on digitally recorded images, in each eye, by two masked observers. Outcome Measures: Image clarity, interobserver agreement. Results: 40 eyes of 25 congenital glaucoma patients were studied. RetCam image had excellent clarity in 77.5% of patients versus 47.5% by gonioscopy. The extent of angle seen was similar by both methods. Agreement between RetCam and gonioscopy images regarding details of angle structures was 72.50% by observer 1 and 65.00% by observer 2. Conclusions: There was good agreement between RetCam and indirect gonioscopy images in detecting angle structures of congenital glaucoma patients. However, RetCam provided greater clarity, with better quality, and higher magnification images. RetCam can be a useful alternative to gonioscopy in infants and small children without the need for general anesthesia.

  4. Comparative evaluation of RetCam vs. gonioscopy images in congenital glaucoma.

    Science.gov (United States)

    Azad, Raj V; Chandra, Parijat; Chandra, Anuradha; Gupta, Aparna; Gupta, Viney; Sihota, Ramanjit

    2014-02-01

    To compare clarity, exposure and quality of anterior chamber angle visualization in congenital glaucoma patients, using RetCam and indirect gonioscopy images. Cross-sectional study Participants. Congenital glaucoma patients over age of 5 years. A prospective consecutive pilot study was done in congenital glaucoma patients who were older than 5 years. Methods used are indirect gonioscopy and RetCam imaging. Clarity of the image, extent of angle visible and details of angle structures seen were graded for both methods, on digitally recorded images, in each eye, by two masked observers. Image clarity, interobserver agreement. 40 eyes of 25 congenital glaucoma patients were studied. RetCam image had excellent clarity in 77.5% of patients versus 47.5% by gonioscopy. The extent of angle seen was similar by both methods. Agreement between RetCam and gonioscopy images regarding details of angle structures was 72.50% by observer 1 and 65.00% by observer 2. There was good agreement between RetCam and indirect gonioscopy images in detecting angle structures of congenital glaucoma patients. However, RetCam provided greater clarity, with better quality, and higher magnification images. RetCam can be a useful alternative to gonioscopy in infants and small children without the need for general anesthesia.

  5. Nexos estratégicos entre la retórica y la publicidad

    Directory of Open Access Journals (Sweden)

    Luis Gallardo Vera

    2011-06-01

    Full Text Available El presente artículo contribuye a establecer nexos estratégicos entre la retórica y la publicidad. La adopción del prisma estratégico en los estudios retóricos de la publicidad no es común, sin embargo, la relación entre retórica y publicidad a un nivel estratégico es evidente, teniendo presente los estudios que han investigado la simbiosis entre las dos actividades.Del universo compuesto por las investigaciones sobre retórica y publicidad se seleccionó una muestra de las obras susceptibles de responder a la pregunta de cuáles son los nexos estratégicos entre la retórica y la publicidad. Con este criterio se conformó una muestra teóricamente conducida del universo. La hipótesis de partida ha sido que, si existen documentos que indaguen en la relación entre la retórica y la publicidad, es posible construir un documento que muestre de un modo amplio cuáles son los nexos estratégicos entre ambas actividades. Finalmente, se contrastó que, efectivamente, este documento es único al mostrar ampliamente cuáles son los nexos estratégicos existentes entre la retórica y la publicidad.

  6. Kinetics of Natural Detoxification of Hydrogen Cyanide Contained In Retted Cassava Roots

    Directory of Open Access Journals (Sweden)

    2016-11-01

    Full Text Available This work presents the kinetics of natural detoxification of hydrogen cyanide contained in retted cassava roots. Retting is traditional fermentation of cassava, performed to soften the roots. During retting, cyanide diffuses into water used for the retting. The fresh cassava roots (bitter and sweet varieties used for this experiment were separately retted at ambient 0 temperature of 30 C. The cyanide content and pH were monitored daily. From the analysis of the experimental results, a first order consecutive rate equation is an adequate tool for explaining the mechanism of HCN reduction (or decay in retted cassava roots. The detoxification constants for the bound cyanide in the bitter and sweet cassava roots were 0.378/day and 0.438/day respectively, while that of the free hydrogen cyanide were 0.63/day and 0.74/day for the bitter and sweet varieties respectively. Cassava tubers from different species cannot be fermented with the same retting condition unless they have same or close functional properties.

  7. CO2, GDP and RET: An aggregate economic equilibrium analysis for Turkey

    International Nuclear Information System (INIS)

    Kumbaroglu, Guerkan; Karali, Nihan; Arikan, Yildiz

    2008-01-01

    There is a worldwide interest in renewable electricity technologies (RETs) due to growing concerns about global warming and climate change. As an EU candidate country whose energy demand increases exponentially, Turkey inevitably shares this common interest on RET. This study, using an aggregate economic equilibrium model, explores the economic costs of different policy measures to mitigate CO 2 emissions in Turkey. The model combines energy demands, capital requirements and labor inputs at a constant elasticity of substitution under an economy-wide nested production function. Growing energy demand, triggered by economic growth, is met by increased supply and initiates new capacity additions. Investment into RET is encouraged via the incorporation of (a) endogenous technological learning through which the RET cost declines as a function of cumulative capacity, and (b) a willingness to pay (WTP) function which imposes the WTP of consumers as a lower bound on RET installation. The WTP equation is obtained as a function of consumer income categories, based on data gathered from a pilot survey in which the contingent valuation methodology was employed. The impacts of various emission reduction scenarios on GDP growth and RET diffusion are explored. As expected, RET penetration is accelerated under faster technological learning and higher WTP conditions. It is found that stabilizing CO 2 emissions to year 2005 levels causes economic losses amounting to 17% and 23% of GDP in the years 2020 and 2030, respectively

  8. Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.

    Science.gov (United States)

    Moyle, Louise A; Blanc, Eric; Jaka, Oihane; Prueller, Johanna; Banerji, Christopher Rs; Tedesco, Francesco Saverio; Harridge, Stephen Dr; Knight, Robert D; Zammit, Peter S

    2016-11-14

    Facioscapulohumeral muscular dystrophy (FSHD) involves sporadic expression of DUX4, which inhibits myogenesis and is pro-apoptotic. To identify target genes, we over-expressed DUX4 in myoblasts and found that the receptor tyrosine kinase Ret was significantly up-regulated, suggesting a role in FSHD. RET is dynamically expressed during myogenic progression in mouse and human myoblasts. Constitutive expression of either RET9 or RET51 increased myoblast proliferation, whereas siRNA-mediated knockdown of Ret induced myogenic differentiation. Suppressing RET activity using Sunitinib, a clinically-approved tyrosine kinase inhibitor, rescued differentiation in both DUX4-expressing murine myoblasts and in FSHD patient-derived myoblasts. Importantly, Sunitinib also increased engraftment and differentiation of FSHD myoblasts in regenerating mouse muscle. Thus, DUX4-mediated activation of Ret prevents myogenic differentiation and could contribute to FSHD pathology by preventing satellite cell-mediated repair. Rescue of DUX4-induced pathology by Sunitinib highlights the therapeutic potential of tyrosine kinase inhibitors for treatment of FSHD.

  9. Distributional effects of the Australian Renewable Energy Target (RET) through wholesale and retail electricity price impacts

    International Nuclear Information System (INIS)

    Cludius, Johanna; Forrest, Sam; MacGill, Iain

    2014-01-01

    The Australian Renewable Energy Target (RET) has spurred significant investment in renewable electricity generation, notably wind power, over the past decade. This paper considers distributional implications of the RET for different energy users. Using time-series regression, we show that the increasing amount of wind energy has placed considerable downward pressure on wholesale electricity prices through the so-called merit order effect. On the other hand, RET costs are passed on to consumers in the form of retail electricity price premiums. Our findings highlight likely significant redistributive transfers between different energy user classes under current RET arrangements. In particular, some energy-intensive industries are benefiting from lower wholesale electricity prices whilst being largely exempted from contributing to the costs of the scheme. By contrast, many households are paying significant RET pass through costs whilst not necessarily benefiting from lower wholesale prices. A more equitable distribution of RET costs and benefits could be achieved by reviewing the scope and extent of industry exemptions and ensuring that methodologies to estimate wholesale price components in regulated electricity tariffs reflect more closely actual market conditions. More generally, these findings support the growing international appreciation that policy makers need to integrate distributional assessments into policy design and implementation. - Highlights: • The Australian RET has complex yet important distributional impacts on different energy users. • Likely wealth transfers from residential and small business consumers to large energy-intensive industry. • Merit order effects of wind likely overcompensate exempt industry for contribution to RET costs. • RET costs for households could be reduced if merit order effects were adequately passed through. • Need for distributional impact assessments when designing and implementing clean energy policy

  10. Modifications Caused by Enzyme-Retting and Their Effect on Composite Performance

    Directory of Open Access Journals (Sweden)

    Jonn A. Foulk

    2011-01-01

    Full Text Available Bethune seed flax was collected from Canada with seed removed using a stripper header and straw pulled and left in field for several weeks. Unretted straw was decorticated providing a coarse fiber bundle feedstock for enzyme treatments. Enzyme treatments using a bacterial pectinolytic enzyme with lyase activity were conducted in lab-scale reactors. Four fiber specimens were created: no retting, minimal retting, moderate retting, and full retting. Fiber characterization tests: strength, elongation, diameter, metal content, wax content, and pH were conducted with significant differences between fibers. Thermosetting vinyl ester resin was used to produce composite panels via vacuum-assisted infusion. Composite performance was evaluated using fiber bundle pull-out, tensile, impact, and interlaminar shear tests. Composite tests indicate that composite panels are largely unchanged among fiber samples. Variation in composite performance might not be realized due to poor interfacial bonding being of larger impact than the more subtle changes incurred by the enzyme treatment.

  11. Developmental wiring of specific neurons is regulated by RET-1/Nogo-A in Caenorhabditis elegans

    DEFF Research Database (Denmark)

    Torpe, Nanna; Nørgaard, Steffen; Høye, Anette M.

    2017-01-01

    Nogo-A is a membrane-bound protein that functions to inhibit neuronal migration, adhesion, and neurite outgrowth during development. In the mature nervous system, Nogo-A stabilizes neuronal wiring to inhibit neuronal plasticity and regeneration after injury. Here, we show that RET-1, the sole Nog...... present a previously unidentified function for RET-1 in the nervous system of C. elegans.......-A homolog in Caenorhabditis elegans, is required to control developmental wiring of a specific subset of neurons. In ret-1 deletion mutant animals, specific ventral nerve cord axons are misguided where they fail to respect the ventral midline boundary. We found that ret-1 is expressed in multiple neurons...

  12. Controlled retting of hemp fibres: Effect of hydrothermal pre-treatmen tand enzymatic retting on the mechanical properties of unidirectiona lhemp/epoxy composites

    DEFF Research Database (Denmark)

    Liu, Ming; Silva, Diogo Alexandre Santos; Fernando, Dinesh

    2016-01-01

    The objective of this work was to investigate the use of hydrothermal pre-treatment and enzymatic retting to remove non-cellulosic compounds and thus improve the mechanical properties of hemp fibre/epoxy composites. Hydrothermal pre-treatment at 100 kPa and 121 °C combined with enzymatic retting...... produced fibres with the highest ultimate tensile strength (UTS) of 780 MPa. Compared to untreated fibres, this combined treatment exhibited a positive effect on the mechanical properties of hemp fibre/epoxy composites, resulting in high quality composites with low porosity factor (αpf) of 0.08.Traditional...

  13. Novel tumorigenic rearrangement, Δrfp/ret, in a papillary thyroid carcinoma from externally irradiated patient

    International Nuclear Information System (INIS)

    Saenko, Vladimir; Rogounovitch, Tatiana; Shimizu-Yoshida, Yuki; Abrosimov, Aleksandr; Lushnikov, Eugeny; Roumiantsev, Pavel; Matsumoto, Naomichi; Nakashima, Masahiro; Meirmanov, Serik; Ohtsuru, Akira; Namba, Hiroyuki; Tsyb, Anatoly; Yamashita, Shunichi

    2003-01-01

    Molecular analysis of cDNA derived from a papillary thyroid carcinoma (PTC) (follicular variant of papillary thyroid carcinoma on histology) which developed in an externally irradiated patient 4 years after exposure identified a portion of the 5' region, exons 1-3, of the rfp gene juxtaposed upstream of the fragment encoding the tyrosine kinase (TK) domain of the ret gene. The fusion gene, termed Δrfp/ret, was the result of a balanced chromosomal translocation t(6;10) (p21.3;q11.2) confirmed by interphase FISH painting, with breakpoints occurring in introns 3 and 11 of the rfp and ret genes, respectively. Both Δrfp/ret and reciprocal ret/rfp chimeric introns had small deletions around breakpoints consistent with presumed misrepair of a radiation-induced double-strand DNA break underlying the rearrangement. No extensive sequence homology was found between the fragments flanking the breakpoints. The fusion protein retained the propensity to form oligomers likely to be mediated by a coiled-coil of the RFP polypeptide as assessed by a yeast two-hybrid system. NIH 3T3 fibroblasts stably transfected with a mammalian expression vector encoding full-length ΔRFP/RET readily gave rise to the tumors in athymic mice suggestive of high transforming potential of the fusion protein. Thus, the Δrfp/ret rearrangement may be causatively involved in cancerogenesis and provides additional evidence of the role of activated ret oncogene in the development of a subset of papillary thyroid carcinoma

  14. Comparative evaluation of RetCam vs. gonioscopy images in congenital glaucoma

    OpenAIRE

    Azad, Raj V; Chandra, Parijat; Chandra, Anuradha; Gupta, Aparna; Gupta, Viney; Sihota, Ramanjit

    2014-01-01

    Purpose: To compare clarity, exposure and quality of anterior chamber angle visualization in congenital glaucoma patients, using RetCam and indirect gonioscopy images. Design: Cross-sectional study Participants. Congenital glaucoma patients over age of 5 years. Materials and Methods: A prospective consecutive pilot study was done in congenital glaucoma patients who were older than 5 years. Methods used are indirect gonioscopy and RetCam imaging. Clarity of the image, extent of angle visible a...

  15. Combined treatment of retting flax wastewater using Fenton oxidation and granular activated carbon

    OpenAIRE

    Abou-Elela, Sohair I.; Ali, Mohammed Eid M.; Ibrahim, Hanan S.

    2016-01-01

    The process of retting flax produces a huge amount of wastewater which is characterized with bad unpleasant smell and high concentration of organic materials. Treatment of such waste had always been difficult because of the presence of refractory organic pollutants such as lignin. In this study, treatment of retting wastewater was carried out using combined system of Fenton oxidation process followed by adsorption on granular activated carbon (GAC). The effects of operating condition on Fento...

  16. Novel tumorigenic rearrangement, {delta}rfp/ret, in a papillary thyroid carcinoma from externally irradiated patient

    Energy Technology Data Exchange (ETDEWEB)

    Saenko, Vladimir; Rogounovitch, Tatiana; Shimizu-Yoshida, Yuki; Abrosimov, Aleksandr; Lushnikov, Eugeny; Roumiantsev, Pavel; Matsumoto, Naomichi; Nakashima, Masahiro; Meirmanov, Serik; Ohtsuru, Akira; Namba, Hiroyuki; Tsyb, Anatoly; Yamashita, Shunichi

    2003-06-19

    Molecular analysis of cDNA derived from a papillary thyroid carcinoma (PTC) (follicular variant of papillary thyroid carcinoma on histology) which developed in an externally irradiated patient 4 years after exposure identified a portion of the 5' region, exons 1-3, of the rfp gene juxtaposed upstream of the fragment encoding the tyrosine kinase (TK) domain of the ret gene. The fusion gene, termed {delta}rfp/ret, was the result of a balanced chromosomal translocation t(6;10) (p21.3;q11.2) confirmed by interphase FISH painting, with breakpoints occurring in introns 3 and 11 of the rfp and ret genes, respectively. Both {delta}rfp/ret and reciprocal ret/rfp chimeric introns had small deletions around breakpoints consistent with presumed misrepair of a radiation-induced double-strand DNA break underlying the rearrangement. No extensive sequence homology was found between the fragments flanking the breakpoints. The fusion protein retained the propensity to form oligomers likely to be mediated by a coiled-coil of the RFP polypeptide as assessed by a yeast two-hybrid system. NIH 3T3 fibroblasts stably transfected with a mammalian expression vector encoding full-length {delta}RFP/RET readily gave rise to the tumors in athymic mice suggestive of high transforming potential of the fusion protein. Thus, the {delta}rfp/ret rearrangement may be causatively involved in cancerogenesis and provides additional evidence of the role of activated ret oncogene in the development of a subset of papillary thyroid carcinoma.

  17. The rare intracellular RET mutation p.S891A in a Chinese Han ...

    Indian Academy of Sciences (India)

    2014-05-01

    May 1, 2014 ... Cancer (7th edition) TNM classification system (Edge and Compton 2010). Lymph-node status was defined according to the criteria of the American Thyroid Asso- ... age of five MTC patients was 41.2 years (range: 24–62.

  18. Bacterial succession and metabolite changes during flax (Linum usitatissimum L.) retting with Bacillus cereus HDYM-02.

    Science.gov (United States)

    Zhao, Dan; Liu, Pengfei; Pan, Chao; Du, Renpeng; Ping, Wenxiang; Ge, Jingping

    2016-09-02

    High-throughput sequencing and GC-MS (gas chromatography-mass spectrometry) were jointly used to reveal the bacterial succession and metabolite changes during flax (Linum usitatissimum L.) retting. The inoculation of Bacillus cereus HDYM-02 decreased bacterial richness and diversity. This inoculum led to the replacement of Enterobacteriaceae by Bacillaceae. The level of aerobic Pseudomonadaceae (mainly Azotobacter) and anaerobic Clostridiaceae_1 gradually increased and decreased, respectively. Following the addition of B. cereus HDYM-02, the dominant groups were all degumming enzyme producers or have been proven to be involved in microbial retting throughout the entire retting period. These results could be verified by the metabolite changes, either degumming enzymes or their catalytic products galacturonic acid and reducing sugars. The GC-MS data showed a clear separation between flax retting with and without B. cereus HDYM-02, particularly within the first 72 h. These findings reveal the important bacterial groups that are involved in fiber retting and will facilitate improvements in the retting process.

  19. Observation of aggregation triggered by Resonance Energy Transfer (RET) induced intermolecular pairing force.

    Science.gov (United States)

    Pan, Xiaoyong; Wang, Weizhi; Ke, Lin; Zhang, Nan

    2017-07-20

    In this report, we showed the existence of RET induced intermolecular pairing force by comparing their fluorescence behaviors under room illumination vs standing in dark area for either PFluAnt solution or PFluAnt&PFOBT mixture. Their prominent emission attenuation under room illumination brought out the critical role of photo, i.e. RET induced intermolecular pairing force in induction of polymer aggregation. Constant UV-Vis absorption and fluorescence spectra in terms of both peak shapes and maximum wavelengths implied no chemical decomposition was involved. Recoverable fluorescence intensity, fluorescence lifetime as well as NMR spectra further exclude photo induced decomposition. The controllable on/off state of RET induced intermolecular pairing force was verified by the masking effect of outside PFluAnt solution which function as filter to block the excitation of inside PFluAnt and thus off the RET induced intermolecular pairing force. Theoretical calculation suggest that magnitude of RET induced intermolecular pairing force is on the same scale as that of van der Waals interaction. Although the absolute magnitude of RET induced intermolecular pairing force was not tunable, its effect can be magnified by intentionally turn it "on", which was achieved by irradiance with 5 W desk lamp in this report.

  20. High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

    Science.gov (United States)

    Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

    2012-12-01

    Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

  1. The dependence receptor Ret induces apoptosis in somatotrophs through a Pit-1/p53 pathway, preventing tumor growth.

    Science.gov (United States)

    Cañibano, Carmen; Rodriguez, Noela L; Saez, Carmen; Tovar, Sulay; Garcia-Lavandeira, Montse; Borrello, Maria Grazia; Vidal, Anxo; Costantini, Frank; Japon, Miguel; Dieguez, Carlos; Alvarez, Clara V

    2007-04-18

    Somatotrophs are the only pituitary cells that express Ret, GFRalpha1 and GDNF. This study investigated the effects of Ret in a somatotroph cell line, in primary pituitary cultures and in Ret KO mice. Ret regulates somatotroph numbers by inducing Pit-1 overexpression, leading to increased p53 expression and apoptosis, both of which can be prevented with Ret or Pit-1 siRNA. The Pit-1 overexpression is mediated by sustained activation of PKCdelta, JNK, c/EBPalpha and CREB induced by a complex of Ret, caspase 3 and PKCdelta. In the presence of GDNF, Akt is activated, and the Pit-1 overexpression and resulting apoptosis are blocked. The adenopituitary of Ret KO mice is larger than normal, showing Pit-1 and somatotroph hyperplasia. In normal animals, activation of the Ret/Pit-1/p53 pathway by retroviral introduction of Ret blocked tumor growth in vivo. Thus, somatotrophs have an intrinsic mechanism for controlling Pit-1/GH production through an apoptotic/survival pathway. Ret might be of value for treatment of pituitary adenomas.

  2. Expression of the RET/PTC fusion gene as a marker for papillary carcinoma in Hashimoto's thyroiditis

    DEFF Research Database (Denmark)

    Wirtschafter, A; Schmidt, R; Rosen, D

    1997-01-01

    specific genes in patients diagnosed with Hashimoto's disease. The newly identified oncogenes RET/PTC1 and RET/PTC3 provide useful and specific markers of the early stages of papillary carcinoma as they are highly specific for malignant cells. Using a sensitive and specific reverse transcriptase......-polymerase chain reaction (RT-PCR) assay, we found messenger RNA (mRNA) expression for the RET/PTC1 and RET/PTC3 oncogenes in 95% of the Hashimoto's patients studied. All Hashimoto's patients presenting without histopathologic evidence of papillary thyroid cancer showed molecular genetic evidence of cancer...

  3. New Insights into c-Ret Signalling Pathway in the Enteric Nervous System and Its Relationship with ALS

    Directory of Open Access Journals (Sweden)

    M. J. Luesma

    2014-01-01

    Full Text Available The receptor tyrosine kinase Ret (c-Ret transduces the glial cell line-derived neurotrophic factor (GDNF signal, one of the neurotrophic factors related to the degeneration process or the regeneration activity of motor neurons in amyotrophic lateral sclerosis (ALS. The phosphorylation of several tyrosine residues of c-Ret seems to be altered in ALS. c-Ret is expressed in motor neurons and in the enteric nervous system (ENS during the embryonic period. The characteristics of the ENS allow using it as model for central nervous system (CNS study and being potentially useful for the research of human neurological diseases such as ALS. The aim of the present study was to investigate the cellular localization and quantitative evaluation of marker c-Ret in the adult human gut. To assess the nature of c-Ret positive cells, we performed colocalization with specific markers of cells that typically are located in the enteric ganglia. The colocalization of PGP9.5 and c-Ret was preferentially intense in enteric neurons with oval morphology and mostly peripherally localized in the ganglion, so we concluded that the c-Ret receptor is expressed by a specific subtype of enteric neurons in the mature human ENS of the gut. The functional significance of these c-Ret positive neurons is discussed.

  4. New insights into c-Ret signalling pathway in the enteric nervous system and its relationship with ALS.

    Science.gov (United States)

    Luesma, M J; Cantarero, I; Álvarez-Dotu, J M; Santander, S; Junquera, C

    2014-01-01

    The receptor tyrosine kinase Ret (c-Ret) transduces the glial cell line-derived neurotrophic factor (GDNF) signal, one of the neurotrophic factors related to the degeneration process or the regeneration activity of motor neurons in amyotrophic lateral sclerosis (ALS). The phosphorylation of several tyrosine residues of c-Ret seems to be altered in ALS. c-Ret is expressed in motor neurons and in the enteric nervous system (ENS) during the embryonic period. The characteristics of the ENS allow using it as model for central nervous system (CNS) study and being potentially useful for the research of human neurological diseases such as ALS. The aim of the present study was to investigate the cellular localization and quantitative evaluation of marker c-Ret in the adult human gut. To assess the nature of c-Ret positive cells, we performed colocalization with specific markers of cells that typically are located in the enteric ganglia. The colocalization of PGP9.5 and c-Ret was preferentially intense in enteric neurons with oval morphology and mostly peripherally localized in the ganglion, so we concluded that the c-Ret receptor is expressed by a specific subtype of enteric neurons in the mature human ENS of the gut. The functional significance of these c-Ret positive neurons is discussed.

  5. Ret and Etv4 Promote Directed Movements of Progenitor Cells during Renal Branching Morphogenesis.

    Directory of Open Access Journals (Sweden)

    Paul Riccio

    2016-02-01

    Full Text Available Branching morphogenesis of the epithelial ureteric bud forms the renal collecting duct system and is critical for normal nephron number, while low nephron number is implicated in hypertension and renal disease. Ureteric bud growth and branching requires GDNF signaling from the surrounding mesenchyme to cells at the ureteric bud tips, via the Ret receptor tyrosine kinase and coreceptor Gfrα1; Ret signaling up-regulates transcription factors Etv4 and Etv5, which are also critical for branching. Despite extensive knowledge of the genetic control of these events, it is not understood, at the cellular level, how renal branching morphogenesis is achieved or how Ret signaling influences epithelial cell behaviors to promote this process. Analysis of chimeric embryos previously suggested a role for Ret signaling in promoting cell rearrangements in the nephric duct, but this method was unsuited to study individual cell behaviors during ureteric bud branching. Here, we use Mosaic Analysis with Double Markers (MADM, combined with organ culture and time-lapse imaging, to trace the movements and divisions of individual ureteric bud tip cells. We first examine wild-type clones and then Ret or Etv4 mutant/wild-type clones in which the mutant and wild-type sister cells are differentially and heritably marked by green and red fluorescent proteins. We find that, in normal kidneys, most individual tip cells behave as self-renewing progenitors, some of whose progeny remain at the tips while others populate the growing UB trunks. In Ret or Etv4 MADM clones, the wild-type cells generated at a UB tip are much more likely to remain at, or move to, the new tips during branching and elongation, while their Ret-/- or Etv4-/- sister cells tend to lag behind and contribute only to the trunks. By tracking successive mitoses in a cell lineage, we find that Ret signaling has little effect on proliferation, in contrast to its effects on cell movement. Our results show that Ret

  6. RET Functions as a Dual-Specificity Kinase that Requires Allosteric Inputs from Juxtamembrane Elements

    Directory of Open Access Journals (Sweden)

    Iván Plaza-Menacho

    2016-12-01

    Full Text Available Receptor tyrosine kinases exhibit a variety of activation mechanisms despite highly homologous catalytic domains. Such diversity arises through coupling of extracellular ligand-binding portions with highly variable intracellular sequences flanking the tyrosine kinase domain and specific patterns of autophosphorylation sites. Here, we show that the juxtamembrane (JM segment enhances RET catalytic domain activity through Y687. This phospho-site is also required by the JM region to rescue an otherwise catalytically deficient RET activation-loop mutant lacking tyrosines. Structure-function analyses identified interactions between the JM hinge, αC helix, and an unconventional activation-loop serine phosphorylation site that engages the HRD motif and promotes phospho-tyrosine conformational accessibility and regulatory spine assembly. We demonstrate that this phospho-S909 arises from an intrinsic RET dual-specificity kinase activity and show that an equivalent serine is required for RET signaling in Drosophila. Our findings reveal dual-specificity and allosteric components for the mechanism of RET activation and signaling with direct implications for drug discovery.

  7. Spatial Positioning of RET and H4 Following Radiation Exposure Leads to Tumor Development

    Directory of Open Access Journals (Sweden)

    Yuri E. Nikiforov

    2001-01-01

    Full Text Available Exposure to ionizing radiation is a well-known risk factor for a number of human cancers, including leukemia, thyroid cancer, soft tissue sarcomas, and many others. Although it has been known for a long time that radiation exposure to the cell results in extensive DNA damage, including double strand DNA breaks, the exact mechanisms of radiation-induced carcinogenesis remain unknown. Recently, a large increase in incidence of thyroid cancer was observed in children exposed to radiation after the Chernobyl nuclear accident [1]. A high prevalence of chromosomal rearrangements involving the RET gene was found among these radiation-induced thyroid tumors [2,3]. As a result of such rearrangement, a portion of the RET gene is fused with another gene, typically with the H4 or ELE1. However, since the DNA targets of ionizing radiation are randomly distributed throughout the cell nucleus, the reason for predilection for the RET rearrangements in thyroid cells was unclear.

  8. Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.

    Science.gov (United States)

    Lai, Frank Pui-Ling; Lau, Sin-Ting; Wong, John Kwong-Leong; Gui, Hongsheng; Wang, Reeson Xu; Zhou, Tingwen; Lai, Wing Hon; Tse, Hung-Fat; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercedes; Ngan, Elly Sau-Wai

    2017-07-01

    Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis). However, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associated with genetic factors. We sought to identify mutations associated with S-HSCR, and used the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 gene editing system to determine how mutations affect ENCC function. We created induced pluripotent stem cell (iPSC) lines from 1 patient with total colonic aganglionosis (with the G731del mutation in RET) and from 2 patients with S-HSCR (without a RET mutation), as well as RET +/- and RET -/- iPSCs. IMR90-iPSC cells were used as the control cell line. Migration and differentiation capacities of iPSC-derived ENCCs were analyzed in differentiation and migration assays. We searched for mutation(s) associated with S-HSCR by combining genetic and transcriptome data from patient blood- and iPSC-derived ENCCs, respectively. Mutations in the iPSCs were corrected using the CRISPR/Cas9 system. ENCCs derived from all iPSC lines, but not control iPSCs, had defects in migration and neuronal lineage differentiation. RET mutations were associated with differentiation and migration defects of ENCCs in vitro. Genetic and transcriptome analyses associated a mutation in the vinculin gene (VCL M209L) with S-HSCR. CRISPR/Cas9 correction of the RET G731del and VCL M209L mutations in iPSCs restored the differentiation and migration capacities of ENCCs. We identified mutations in VCL associated with S-HSCR. Correction of this mutation in iPSC using CRISPR/Cas9 editing, as well as the RET G731del mutation that causes Hirschsprung disease with total colonic aganglionosis, restored ENCC function. Our study demonstrates how human iPSCs can

  9. Technical evaluation of RETS-required reports for Turkey Point Units No. 3 and 4

    International Nuclear Information System (INIS)

    Magleby, E.H.; Young, T.E.; Henscheid, J.W.

    1985-01-01

    A review of the reports required by Federal regulations and the plant specific Radiological Effluent Technical Specifications (RETS) for operations conducted during 1983 was performed. The periodic reports reviewed were the Annual Radiological Environmental Operating Report for 1983 and Semiannual Radioactive Effluent Release Reports for 1983. The principal review guidelines were the plant's specific RETS, NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants'', and NRC Guidance on the Review of the Process Control Programs. The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  10. Technical evaluation of RETS-required reports for the La Crosse boiling water reactor

    International Nuclear Information System (INIS)

    Magleby, E.H.; Young, T.E.

    1985-01-01

    A review of the reports required by federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted during 1983 was performed. The periodic reports reviewed were the Annual Radiological Environmental Operating Report for 1983 and the Semiannual Radioactive Effluent Release Reports for 1983. The principal review guidelines were the plant-specific RETS, NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants'', and NRC Guidance on the Review of the Process Control Programs. The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines. 5 refs

  11. Technical evaluation of RETS-required reports for Duane Arnold Energy Center Unit No. 1

    International Nuclear Information System (INIS)

    Young, T.E.; Magleby, E.H.; Henscheid, J.W.

    1985-01-01

    A review of the reports required by federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted during 1983 was performed. The periodic reports reviewed were the Annual Radiological Environmental Operating Report for 1983 and the Semiannual Radioactive Effluent Release Reports for 1983. The principal review guidelines were the plant's specific RETS, NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants'', and NRC Guidance on the Review of the Process Control Programs. The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines. 8 refs

  12. Technical evaluation of RETS-required reports for Kewaunee Nuclear Power Plant for 1983

    International Nuclear Information System (INIS)

    Magleby, E.H.; Young, T.E.

    1985-01-01

    A review of the reports required by Federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted at the Kewaunee Nuclear Power Plant during 1983 was performed. The periodic reports reviewed were the two Semiannual Effluent Release Reports for 1983 and the annual Kewaunee Environmental Radioactivity Survey. The principal review guidelines were the plant's specific RETS and NRC guidance given in NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants.'' The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  13. The mTORC1 Complex Is Significantly Overactivated in SDHX-Mutated Paragangliomas

    NARCIS (Netherlands)

    Oudijk, Lindsey; Papathomas, Thomas; de Krijger, Ronald; Korpershoek, Esther; Gimenez-Roqueplo, Anne Paule; Favier, Judith; Canu, Letizia; Mannelli, Massimo; Rapa, Ida; Currás-Freixes, Maria; Robledo, Mercedes; Smid, Marcel; Papotti, Mauro; Volante, Marco

    2017-01-01

    AIM: We aimed at exploring the activation pattern of the mTOR pathway in sporadic and hereditary pheochromocytomas (PCCs) and paragangliomas (PGLs). METHODS: A total of 178 PCCs and 44 PGLs, already characterized for the presence of germline mutations in VHL, RET, NF1, MAX, SDHA, SDHB, SDHC, and

  14. Oncogene mutational profile in nasopharyngeal carcinoma

    Directory of Open Access Journals (Sweden)

    Zhang ZC

    2014-03-01

    Full Text Available Zi-Chen Zhang,1,* Sha Fu,1,* Fang Wang,1 Hai-Yun Wang,1 Yi-Xin Zeng,2 Jian-Yong Shao11Department of Molecular Diagnostics, 2Department of Experimental Research, Sun Yat-sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center of Cancer Medicine, Guangzhou, People's Republic of China *These authors contributed equally to this work Abstract: Nasopharyngeal carcinoma (NPC is a common tumor in Southern China, but the oncogene mutational status of NPC patients has not been clarified. Using time-of-flight mass spectrometry, 238 mutation hotspots in 19 oncogenes were examined in 123 NPC patients. The relationships between mutational status and clinical data were assessed with a χ2 or Fisher's exact test. Survival analysis was performed using the Kaplan–Meier method with the log-rank test. In 123 patients, 21 (17.1% NPC tumors were positive for mutations in eight oncogenes: six patients had PIK3CA mutations (4.9%, five NRAS mutations (4.1%, four KIT mutations (3.3%, two PDGFRA mutations (1.6%, two ABL mutations (1.6%, and one with simultaneous mutations in HRAS, EGFR, and BRAF (1%. Patients with mutations were more likely to relapse or develop metastasis than those with wild-type alleles (P=0.019. No differences or correlations were found in other clinical characteristics or in patient survival. No mutations were detected in oncogenes AKT1, AKT2, CDK, ERBB2, FGFR1, FGFR3, FLT3, JAK2, KRAS, MET, and RET. These results demonstrate an association between NPC and mutations in NRAS, KIT, PIK3CA, PDGFRA, and ABL, which are associated with patient relapse and metastasis. Keywords: NPC, oncogene, mutation

  15. Characterization and vectorization of siRNA targeting RET/PTC1 in human papillary thyroid carcinoma cells

    Directory of Open Access Journals (Sweden)

    Massade L.

    2011-10-01

    Full Text Available RET/PTC1 fusion oncogene is the most common genetic alteration identified to date in thyroid papillary carcinomas (PTC and represents a good target for small interfering RNA (siRNA. Our aim was: i to target the RET/PTC1 oncogene by siRNAs, ii to assess the knockdown effects on cell growth and cell cycle regulation and iii to vectorize it in order to protect it from degradation. Methods. Human cell lines expressing RET/PTC1 were transfected by siRNA RET/PTC1, inhibition of the oncogene expression was assessed by qRT-PCR and by Western blot. Conjugation of siRNA RET/PTC1 to squalene was performed by coupling it to squalene. In vivo studies are performed in nude mice. Conclusion. In this short communication, we report the main published results obtained during last years.

  16. Variants in RET Associated With Hirschsprung's Disease Affect Binding of Transcription Factors and Gene Expression

    NARCIS (Netherlands)

    Sribudiani, Yunia; Metzger, Marco; Osinga, Jan; Rey, Amanda; Burns, Alan J.; Thapar, Nikhil; Hofstra, Robert M. W.

    BACKGROUND & AIMS: Two noncoding variations in RET-the T allele of the single nucleotide polymorphism (SNP) rs2435357 (Enh1:C>T) and the A allele of the SNP rs2506004 (Enh2:C>A)-are associated with Hirschsprung's disease. These SNPs are in strong linkage disequilibrium and located in an enhancer

  17. Synergistic growth inhibition of cancer cells harboring the RET/PTC1 ...

    Indian Academy of Sciences (India)

    Synergistic growth inhibition of cancer cells harboring the RET/PTC1 oncogene by staurosporine and rotenone involves enhanced cell death. ANTÓNIO PEDRO GONÇALVES, ARNALDO VIDEIRA, VALDEMAR MÁXIMO and PAULA SOARES. J. Biosci. 36(4), September 2011, 639-648, © Indian Academy of Sciences.

  18. The Establishment of a Formal Midwest Renewable Energy Tracking System (M-RETS) Organization

    Energy Technology Data Exchange (ETDEWEB)

    Maria Redmond; Chela Bordas O' Connor

    2010-06-30

    The objectives identified in requesting and utilizing this funding has been met. The goal was to establish a formal, multi-jurisdictional organization to: (1) ensure the policy objectives of the participating jurisdictions are addressed through increased tradability of the Renewable Energy Credits (RECs) from M-RETS and to eliminate the possibility that a single jurisdiction will be the sole arbiter of the operation of the system; (2) facilitate the establishment of REC standards including the attributes related to, the creation, trading, and interaction with other trading and tracking systems; and (3) have a centralized and established organization that will be responsible for the contracting and governance responsibilities of a multi-jurisdictional tracking system. The M-RETS Inc. Board ensures that the system remains policy neutral; that the attributes of generation are tracked in a way that allows the system users to easily identify and trade relevant RECs; that the system can add jurisdictions as needed or desired; and that the tracking system operate in such a way to allow for the greatest access possible for those participating in other tracking or trading systems by allowing those systems to negotiate with a single M-RETS entity for the import and export of RECs. M-RETS as an organizational body participates and often leads the discussions related to the standardization of RECs and increasing the tradability of M-RETS RECs. M-RETS is a founding member of the Environmental Trading Network of North America (ETNNA) and continues to take a leadership role in the development of processes to facilitate trading among tracking systems and to standardize REC definitions. The Board of Directors of M-RETS, Inc., the non-profit corporation, continues to hold telephone/internet Board meetings. Legal counsel continues working with the board and APX management on a new agreement with APX. The board expects to have an agreement and corresponding fee structure in place by

  19. Targeting surface nucleolin with a multivalent pseudopeptide delays development of spontaneous melanoma in RET transgenic mice

    International Nuclear Information System (INIS)

    El Khoury, Diala; Courty, José; Hovanessian, Ara G; Prévost-Blondel, Armelle; Destouches, Damien; Lengagne, Renée; Krust, Bernard; Hamma-Kourbali, Yamina; Garcette, Marylène; Niro, Sandra; Kato, Masashi; Briand, Jean-Paul

    2010-01-01

    The importance of cell-surface nucleolin in cancer biology was recently highlighted by studies showing that ligands of nucleolin play critical role in tumorigenesis and angiogenesis. By using a specific antagonist that binds the C-terminal tail of nucleolin, the HB-19 pseudopeptide, we recently reported that HB-19 treatment markedly suppressed the progression of established human breast tumor cell xenografts in the athymic nude mice without apparent toxicity. The in vivo antitumoral action of HB-19 treatment was assessed on the spontaneous development of melanoma in the RET transgenic mouse model. Ten days old RET mice were treated with HB-19 in a prophylactic setting that extended 300 days. In parallel, the molecular basis for the action of HB-19 was investigated on a melanoma cell line (called TIII) derived from a cutaneous nodule of a RET mouse. HB-19 treatment of RET mice caused a significant delay in the onset of cutaneous tumors, several-months delay in the incidence of large tumors, a lower frequency of cutaneous nodules, and a reduction of visceral metastatic nodules while displaying no toxicity to normal tissue. Moreover, microvessel density was significantly reduced in tumors recovered from HB-19 treated mice compared to corresponding controls. Studies on the melanoma-derived tumor cells demonstrated that HB-19 treatment of TIII cells could restore contact inhibition, impair anchorage-independent growth, and reduce their tumorigenic potential in mice. Moreover, HB-19 treatment caused selective down regulation of transcripts coding matrix metalloproteinase 2 and 9, and tumor necrosis factor-α in the TIII cells and in melanoma tumors of RET mice. Although HB-19 treatment failed to prevent the development of spontaneous melanoma in the RET mice, it delayed for several months the onset and frequency of cutaneous tumors, and exerted a significant inhibitory effect on visceral metastasis. Consequently, HB-19 could provide a novel therapeutic agent by itself or

  20. Estudio retórico-comunicativo de los debates presidenciales mexicanos (2006

    Directory of Open Access Journals (Sweden)

    Felicísimo Valbuena de la Fuente

    2007-01-01

    Full Text Available En su Retórica, Aristóteles distinguió materiales de prueba personal (ethos,argumentales (logos y dramáticos, o de experiencia (pathos. También distinguió entre discursos judiciales, deliberativos y epidícticos o demostrativos. El autor de este trabajo quiere demostrar que la Retórica de Aristóteles sigue vigente analizando los debates presidenciales mexicanos en 2006. Se ocupa de cómo cada candidato se atuvo a las normas de los debates, su concepción del público y cómo emplearon los tres tipos de materiales. Asimismo, ilustra sus afirmaciones con numerosos ejemplos.

  1. La traducción como ejercicio retórico y gramatical

    OpenAIRE

    Chico Rico, Francisco

    2009-01-01

    Este trabajo de investigación se centra fundamentalmente en los debates disciplinares latinos en torno a la traducción y a su importancia para la formación del orador en particular y para la educación para la comunicación social en general. En este contexto se aborda el ejercicio de la traducción tanto en el marco de la teoría retórica como en el dominio de la teoría gramatical, así como en el seno de las relaciones entre aquél y éste, ya que si la teoría retórica consideró la traducción fund...

  2. Radiological Effluent Technical Specifications (RETS) implementation: Zion Generating Station Units 1 and 2

    International Nuclear Information System (INIS)

    Serrano, W.; Akers, D.W.; Duce, S.W.; Mandler, J.W.; Simpson, F.B.; Young, T.E.

    1985-06-01

    A review of the Radiological Effluent Technical Specifications (RETS) of the Zion Generating Station Units 1 and 2 was performed. The principal review guidelines used were NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants,'' and Draft 7 of NUREG-0472, Revision 3, ''Radiological Effluent Technical Specifications for Pressurized Water Reactors.'' Draft submittals were discussed with the Licensee by both EG and G and the NRC staff until all items requiring changes to the Technical Specifications were resolved. The Licensee then submitted final proposed RETS to the NRC which were evaluated and found to be in compliance with the NRC review guidelines. The proposed Offsite Dose Calculation Manual was reviewed and generally found to be consistent with the NRC review guidelines. 35 refs., 2 figs., 1 tab

  3. Key Roles for MYC, KIT and RET signaling in secondary angiosarcomas

    DEFF Research Database (Denmark)

    Styring, E; Seinen, J; Dominguez-Valentin, M

    2014-01-01

    of the gene signature to an external data set. RESULTS: In total, 103 genes were significantly deregulated between primary and secondary angiosarcomas. Secondary angiosarcomas showed upregulation of MYC, KIT and RET and downregulation of CDKN2C. Functional annotation analysis identified multiple target genes...... in the receptor protein tyrosine kinase pathway. The results were validated using RT-qPCR and immunohistochemistry. Further, the gene signature was applied to an external data set and, herein, distinguished primary from secondary angiosarcomas. CONCLUSIONS: Upregulation of MYC, KIT and RET and downregulation......BACKGROUND: Angiosarcomas may develop as primary tumours of unknown cause or as secondary tumours, most commonly following radiotherapy to the involved field. The different causative agents may be linked to alternate tumorigenesis, which led us to investigate the genetic profiles of morphologically...

  4. Retórica do consumo: o discurso em ação persuasiva

    OpenAIRE

    Pinheiro, Noslen Nascimento

    2016-01-01

    Diante das inúmeras possibilidades de estudo que o discurso publicitário proporciona, propomos, neste trabalho, uma análise retórica dos títulos de anúncios veiculados em revistas impressas de 1808 a 2015, no Brasil. Em alguns casos, a análise se estende aos textos adicionais para elucidar as intenções argumentativas do orador. Nossa proposta baseia-se essencialmente em uma fundamentação teórica sobre a retórica, exposta no capítulo 1, as quais são baseadas nas teorias de Aristóteles (1985...

  5. A cross-talk between TrkB and Ret tyrosine kinases receptors mediates neuroblastoma cells differentiation.

    Directory of Open Access Journals (Sweden)

    Carla Lucia Esposito

    Full Text Available Understanding the interplay between intracellular signals initiated by multiple receptor tyrosine kinases (RTKs to give the final cell phenotype is a major pharmacological challenge. Retinoic acid (RA-treatment of neuroblastoma (NB cells implicates activation of Ret and TrkB RTKs as critical step to induce cell differentiation. By studying the signaling interplay between TrkB and Ret as paradigmatic example, here we demonstrate the existence of a cross-talk mechanism between the two unrelated receptors that is needed to induce the cell differentiation. Indeed, we show that TrkB receptor promotes Ret phosphorylation by a mechanism that does not require GDNF. This reveals to be a key mechanism, since blocking either TrkB or Ret by small interfering RNA causes a failure in NB biochemical and morphological differentiation. Our results provide the first evidence that a functional transactivation between distinct tyrosine kinases receptors is required for an important physiological process.

  6. IMPACT OF JUTE RETTING ON PHYTOPLANKTON DIVERSITY AND AQUATIC HEALTH: BIOMONITORING IN A TROPICAL OXBOW LAKE

    Directory of Open Access Journals (Sweden)

    Dipankar Ghosh

    2015-11-01

    Full Text Available Phytoplankton acts as a primary producer and biological filter of aquatic ecosystem. Jute retting during monsoon is a common anthropological activity in the rural Bengal. Quantitative seasonal bio-monitoring of phytoplankton community composition with relative abundance and its diversity indices was carried out in this study from April 2013 to March 2014 to assess water quality and the impact of jute retting on phytoplankton diversity of a tropical fresh water oxbow lake in Nadia district of India. We recorded a total of 34 genera of 5 distinct classes, Chlorophyceae (15, Bacillariophyceae (13, Cyanophyceae (4, Dinophyceae (1 and Euglenophyceae (1. Members of Chlorophyceae dominated throughout the year. Unlike Cyanophyceae, Bacillariophyceae was found to be significantly increased during monsoon when compared to the rest of the year. Average phytoplankton density was highest in post-monsoon (8760/L followed by monsoon (4680/L and pre-monsoon (3650/L. Owing to the dominance of class Chlorophyceae and Bacillariophyceae we found this lake to be oligotrophic to mesotrophic. Indices values of genera richness, Shannon-Wiener, evenness and Simpson’s diversity reached their lowest 14, 1.61, 0.61 and 0.68 in monsoon and highest 23, 2.42, 0.77 and 0.86 in post monsoon respectively. The lowest diversity values during monsoon clearly suggested that the selected lake has highest anthropogenic pollution due to jute retting which impacted significantly on phytoplankton diversity. Therefore, the lake is not conducive for fish growth especially during monsoon and we opine that there is a need to regulate jute retting process, intensity and its density in the lake during the monsoon to ensure enhanced biodiversity for sustainable management and conservation of aquatic environment of this Oxbow lake.

  7. Prisen Årets studenter start-up går til Drop Bucket

    DEFF Research Database (Denmark)

    Lassen, Lisbeth

    2015-01-01

    DTU’s ny pris for årets mest innovative studerende blev ved universitetets årsfest givet til Heiða Gunnarsdóttir Nolsøe og Marie Stampe Berggreen, som står bag virksomheden Drop Bucket. Koncerndirektør for innovation og entreprenørskab, Marianne Thellersen, overakte prisen til de to innovatører s...

  8. Comparison of GFL–GFRα complexes: further evidence relating GFL bend angle to RET signalling

    International Nuclear Information System (INIS)

    Parkash, Vimal; Goldman, Adrian

    2009-01-01

    The second crystal structure of the GDNF-GFRα1 complex provides further evidence that GFL signalling through RET is determined by the bend angle in the GFL. Glial cell line-derived neurotrophic factor (GDNF) activates the receptor tyrosine kinase RET by binding to the GDNF-family receptor α1 (GFRα1) and forming the GDNF 2 –GFRα1 2 –RET 2 heterohexamer complex. A previous crystal structure of the GDNF 2 –GFRα1 2 complex suggested that differences in signalling in GDNF-family ligand (GFL) complexes might arise from differences in the bend angle between the two monomers in the GFL homodimer. Here, a 2.35 Å resolution structure of the GDNF 2 –GFRα1 2 complex crystallized with new cell dimensions is reported. The structure was refined to a final R factor of 22.5% (R free = 28%). The structures of both biological tetrameric complexes in the asymmetric unit are very similar to 2v5e and different from the artemin–GFRα3 structure, even though there is a small change in the structure of the GDNF. By comparison of all known GDNF and artemin structures, it is concluded that GDNF is more bent and more flexible than artemin and that this may be related to RET signalling. Comparisons also suggest that the differences between artemin and GDNF arise from the increased curvature of the artemin ‘fingers’, which both increases the buried surface area in the monomer–monomer interface and changes the intermonomer bend angle. From sequence comparison, it is suggested that neuturin (the second GFL) adopts an artemin-like conformation, while persephin has a different conformation to the other three

  9. Screening for retinopathy of prematurity-a comparison between binocular indirect ophthalmoscopy and RetCam 120

    Directory of Open Access Journals (Sweden)

    Shah Parag

    2006-01-01

    Full Text Available Aim: To compare the photographic screening for retinopathy of prematurity (ROP using RetCam 120 with binocular indirect ophthalmoscope (BIO, which is the current gold standard. Setting and Design: Prospective, comparative study. Materials and Methods: A total of 87 RetCam examinations were performed on 27 premature babies. They were stored in a separate file after deleting the identifying information. At the same visit using the BIO with scleral depression, an experienced vitreoretinal surgeon evaluated the fundus in detail. A masked examiner then evaluated the RetCam photographs for presence or absence of ROP, the stage and zone of the disease, and the presence or absence of plus disease. These data were then compared with the BIO findings to determine the sensitivity, specificity, and the positive and negative predictive values of the method. Results: ROP was detected in 63 of 87 examinations by BIO and in 56 of 87 RetCam examinations. Nine RetCam examinations were false-negative and two were false-positive. Sensitivity of RetCam was 85.71% (54/63 and specificity was 91.66% (22/24. The positive and negative predictive values were 96.43% and 70.97% respectively. Conclusion: Nine cases having ROP were missed by the RetCam. All these cases were either in zone 3 or the outer part of zone 2, which later regressed. These were missed mostly because of the restricted mobility of the camera head caused by its size and the barrier caused by the lid speculum arms. No case of threshold ROP was missed. RetCam may replace BIO for screening of ROP.

  10. Mitos no Desengajamento Moral: Retóricas da Samarco em um Crime Corporativo

    Directory of Open Access Journals (Sweden)

    Cintia Rodrigues de Oliveira Medeiros

    2017-12-01

    Full Text Available Nesta pesquisa, conduzimos uma análise retórica com o objetivo de explorar os mecanismos de desengajamento moral utilizados pela Samarco no caso do crime ocorrido com a quebra de uma barragem sob sua administração, em novembro de 2015, em Minas Gerais. O corpus de pesquisa submetido à análise retórica constitui-se de publicações contendo declarações da empresa e de seus representantes sobre o caso em questão. Como resultados, mostramos que a Samarco utiliza-se de três mitos na sua retórica: (a Nós estamos fazendo o que deve ser feito; (b Nós não colocamos a sociedade e o meio ambiente em risco; e (c A culpa não é nossa. Esses três mitos são recursos representativos do desengajamento moral (Bandura, 1999 da empresa para cometer um crime corporativo. Nossa análise identificou três mecanismos: deslocamento de culpa; minimização e distorção das consequências; e rotulagem eufemística.

  11. Combined treatment of retting flax wastewater using Fenton oxidation and granular activated carbon

    Directory of Open Access Journals (Sweden)

    Sohair I. Abou-Elela

    2016-07-01

    Full Text Available The process of retting flax produces a huge amount of wastewater which is characterized with bad unpleasant smell and high concentration of organic materials. Treatment of such waste had always been difficult because of the presence of refractory organic pollutants such as lignin. In this study, treatment of retting wastewater was carried out using combined system of Fenton oxidation process followed by adsorption on granular activated carbon (GAC. The effects of operating condition on Fenton oxidation process such as hydrogen peroxide and iron concentration were investigated. In addition, kinetic study of the adsorption process was elaborated. The obtained results indicated that degradation of organic matters follows a pseudo-first order reaction with regression coefficient of 0.98. The kinetic model suggested that the rate of reaction was highly affected by the concentration of hydrogen peroxide. Moreover, the results indicated that the treatment module was very efficient in removing the organic and inorganic pollutants. The average percentage removal of chemical oxygen demand (COD, total suspended solid (TSS, oil, and grease was 98.60%, 86.60%, and 94.22% with residual values of 44, 20, and 5 mg/L, respectively. The treated effluent was complying with the National Regulatory Standards for wastewater discharge into surface water or reuse in the retting process.

  12. T-Cell Mediated Immune Responses Induced in ret Transgenic Mouse Model of Malignant Melanoma

    Energy Technology Data Exchange (ETDEWEB)

    Abschuetz, Oliver [Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg and Department of Dermatology, Venereology and Allergology, University Medical Center Mannheim, Ruprecht-Karl University of Heidelberg, Mannheim , Heidelberg 69120 (Germany); Osen, Wolfram [Division of Translational Immunology, German Cancer Center, Heidelberg 69120 (Germany); Frank, Kathrin [Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg and Department of Dermatology, Venereology and Allergology, University Medical Center Mannheim, Ruprecht-Karl University of Heidelberg, Mannheim , Heidelberg 69120 (Germany); Kato, Masashi [Unit of Environmental Health Sciences, Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Aichi 487-8501 (Japan); Schadendorf, Dirk [Department of Dermatology, University Hospital Essen, Essen 45122 (Germany); Umansky, Viktor, E-mail: v.umansky@dkfz.de [Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg and Department of Dermatology, Venereology and Allergology, University Medical Center Mannheim, Ruprecht-Karl University of Heidelberg, Mannheim , Heidelberg 69120 (Germany)

    2012-04-26

    Poor response of human malignant melanoma to currently available treatments requires a development of innovative therapeutic strategies. Their evaluation should be based on animal models that resemble human melanoma with respect to genetics, histopathology and clinical features. Here we used a transgenic mouse model of spontaneous skin melanoma, in which the ret transgene is expressed in melanocytes under the control of metallothionein-I promoter. After a short latency, around 25% mice develop macroscopic skin melanoma metastasizing to lymph nodes, bone marrow, lungs and brain, whereas other transgenic mice showed only metastatic lesions without visible skin tumors. We found that tumor lesions expressed melanoma associated antigens (MAA) tyrosinase, tyrosinase related protein (TRP)-1, TRP-2 and gp100, which could be applied as targets for the immunotherapy. Upon peptide vaccination, ret transgenic mice without macroscopic melanomas were able to generate T cell responses not only against a strong model antigen ovalbumin but also against typical MAA TRP-2. Although mice bearing macroscopic primary tumors could also display an antigen-specific T cell reactivity, it was significantly down-regulated as compared to tumor-free transgenic mice or non-transgenic littermates. We suggest that ret transgenic mice could be used as a pre-clinical model for the evaluation of novel strategies of melanoma immunotherapy.

  13. Direct association between the Ret receptor tyrosine kinase and the Src homology 2-containing adapter protein Grb7.

    Science.gov (United States)

    Pandey, A; Liu, X; Dixon, J E; Di Fiore, P P; Dixit, V M

    1996-05-03

    Adapter proteins containing Src homology 2 (SH2) domains link transmembrane receptor protein-tyrosine kinases to downstream signal transducing molecules. A family of SH2 containing adapter proteins including Grb7 and Grb10 has been recently identified. We had previously shown that Grb10 associates with Ret via its SH2 domain in an activation-dependent manner (Pandey, A., Duan, H., Di Fiore, P.P., and Dixit, V.M. (1995) J. Biol, Chem. 270, 21461-21463). We now demonstrate that the related adapter molecule Grb7 also associates with Ret in vitro and in vivo, and that the binding of the SH2 domain of Grb7 to Ret is direct. This binding is dependent upon Ret autophosphorylation since Grb7 is incapable of binding a kinase-defective mutant of Ret. Thus two members of the Grb family, Grb7 and Grb10, likely relay signals emanating from Ret to other, as yet, unidentified targets within the cell.

  14. GNAq mutations are not identified in papillary thyroid carcinomas and hyperfunctioning thyroid nodules.

    Science.gov (United States)

    Cassol, Clarissa A; Guo, Miao; Ezzat, Shereen; Asa, Sylvia L

    2010-12-01

    Activating mutations of GNAq protein in a hotspot at codon 209 have been recently described in uveal melanomas. Since these neoplasms share with thyroid carcinomas a high frequency of MAP kinase pathway-activating mutations, we hypothesized whether GNAq mutations could also play a role in the development of thyroid carcinomas. Additionally, activating mutations of another subtype of G protein (GNAS1) are frequently found in hyperfunctioning thyroid adenomas, making it plausible that GNAq-activating mutations could also be found in some of these nodules. To investigate thyroid papillary carcinomas and thyroid hyperfunctioning nodules for GNAq mutations in exon 5, codon 209, a total of 32 RET/PTC, BRAF, and RAS negative thyroid papillary carcinomas and 13 hyperfunctioning thyroid nodules were evaluated. No mutations were identified. Although plausible, GNAq mutations seem not to play an important role in the development of thyroid follicular neoplasms, either benign hyperfunctioning nodules or malignant papillary carcinomas. Our results are in accordance with the literature, in which no GNAq hotspot mutations were found in thyroid papillary carcinomas, as well as in an extensive panel of other tumors. The molecular basis for MAP-kinase pathway activation in RET-PTC/BRAF/RAS negative thyroid carcinomas remains to be determined.

  15. A retrospective analysis of RET translocation, gene copy number gain and expression in NSCLC patients treated with vandetanib in four randomized Phase III studies.

    Science.gov (United States)

    Platt, Adam; Morten, John; Ji, Qunsheng; Elvin, Paul; Womack, Chris; Su, Xinying; Donald, Emma; Gray, Neil; Read, Jessica; Bigley, Graham; Blockley, Laura; Cresswell, Carl; Dale, Angela; Davies, Amanda; Zhang, Tianwei; Fan, Shuqiong; Fu, Haihua; Gladwin, Amanda; Harrod, Grace; Stevens, James; Williams, Victoria; Ye, Qingqing; Zheng, Li; de Boer, Richard; Herbst, Roy S; Lee, Jin-Soo; Vasselli, James

    2015-03-23

    To determine the prevalence of RET rearrangement genes, RET copy number gains and expression in tumor samples from four Phase III non-small-cell lung cancer (NSCLC) trials of vandetanib, a selective inhibitor of VEGFR, RET and EGFR signaling, and to determine any association with outcome to vandetanib treatment. Archival tumor samples from the ZODIAC ( NCT00312377 , vandetanib ± docetaxel), ZEAL ( NCT00418886 , vandetanib ± pemetrexed), ZEPHYR ( NCT00404924 , vandetanib vs placebo) and ZEST ( NCT00364351 , vandetanib vs erlotinib) studies were evaluated by fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC) in 944 and 1102 patients. The prevalence of RET rearrangements by FISH was 0.7% (95% CI 0.3-1.5%) among patients with a known result. Seven tumor samples were positive for RET rearrangements (vandetanib, n = 3; comparator, n = 4). 2.8% (n = 26) of samples had RET amplification (innumerable RET clusters, or ≥7 copies in > 10% of tumor cells), 8.1% (n = 76) had low RET gene copy number gain (4-6 copies in ≥40% of tumor cells) and 8.3% (n = 92) were RET expression positive (signal intensity ++ or +++ in >10% of tumor cells). Of RET-rearrangement-positive patients, none had an objective response in the vandetanib arm and one patient responded in the comparator arm. Radiologic evidence of tumor shrinkage was observed in two patients treated with vandetanib and one treated with comparator drug. The objective response rate was similar in the vandetanib and comparator arms for patients positive for RET copy number gains or RET protein expression. We have identified prevalence for three RET biomarkers in a population predominated by non-Asians and smokers. RET rearrangement prevalence was lower than previously reported. We found no evidence of a differential benefit for efficacy by IHC and RET gene copy number gains. The low prevalence of RET rearrangements (0.7%) prevents firm conclusions regarding association of vandetanib treatment with

  16. Ny EU-dom om afgifter på motorkøretøjer - en bombe under de nationale registreringsafgifter

    DEFF Research Database (Denmark)

    Thygesen, Jette

    2013-01-01

    Gennem tiden har EU-Domstolen, i en mængde sager, taget stilling til medlemsstaternes ret til at opkræve afgift af motorkøretøjer. EU-Domstolen har således taget stilling til, om afgift på motorkøretøjer er forenelig med EU-retten i forbindelse med arbejdskraftens frie bevægelighed, etableringsre...

  17. Mecanismos argumentativos en las cartas al director: La interrogación retórica

    Directory of Open Access Journals (Sweden)

    Joan Gabriel Burguera Serra

    2010-11-01

    Full Text Available Normal 0 21 false false false ES X-NONE X-NONE MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Tabla normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0cm; line-height:115%; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;} El objetivo de este artículo se centra en la descripción de la funcionalidad pragmática de la interrogación retórica en las cartas al director. El punto de partida radica en entender las cartas al director como textos con finalidades comunicativas relacionadas con el asentamiento de actos de habla de queja o desaprobación y aceptar, en consecuencia, que el potencial argumentativo que subyace a las interrogaciones retóricas comporta la idoneidad de las mismas en el marco textual indicado. En último término, se proponen unos mecanismos descriptivos básicos para evidenciar las correspondencias entre estructura formal e interpretación retórica de enunciados interrogativos.

  18. Improving retting of fibre through genetic modification of flax to express pectinases.

    Science.gov (United States)

    Musialak, Magdalena; Wróbel-Kwiatkowska, Magdalena; Kulma, Anna; Starzycka, Eligia; Szopa, Jan

    2008-02-01

    Flax (Linum usitatissimum L.) is a raw material used for important industrial products. Linen has very high quality textile properties, such as its strength, water absorption, comfort and feel. However, it occupies less than 1% of the total textile market. The major reason for this is the long and difficult retting process by which linen fibres are obtained. In retting, bast fibre bundles are separated from the core, the epidermis and the cuticle. This is accomplished by the cleavage of pectins and hemicellulose in the flax cell wall, a process mainly carried out by plant pathogens like filamentous fungi. The remaining bast fibres are mainly composed of cellulose and lignin. The aim of this study was to generate plants that could be retted more efficiently. To accomplish this, we employed the novel approach of transgenic flax plant generation with increased polygalacturonase (PGI ) and rhamnogalacturonase (RHA) activities. The constitutive expression of Aspergillus aculeatus genes resulted in a significant reduction in the pectin content in tissue-cultured and field-grown plants. This pectin content reduction was accompanied by a significantly higher (more than 2-fold) retting efficiency of the transgenic plant fibres as measured by a modified Fried's test. No alteration in the lignin or cellulose content was observed in the transgenic plants relative to the control. This indicates that the over-expression of the two enzymes does not affect flax fibre composition. The growth rate and soluble sugar and starch contents were in the range of the control levels. It is interesting to note that the RHA and PGI plants showed higher resistance to Fusarium culmorum and F. oxysporum attack, which correlates with the increased phenolic acid level. In this report, we demonstrate for the first time that over-expression of the A. aculeatus genes results in flax plants more readily usable for fibre production. The biochemical parameters of the cell wall components indicated that

  19. Cidadania: ret?rica e realidade nas pol?ticas sociais de Manaus

    OpenAIRE

    Pereira, Raimundo Emerson Dourado

    2004-01-01

    Este trabalho discute os aspectos que norteiam a quest?o da cidadania, verificando o distanciamento que a ret?rica governamental adquire ao ser confrontada ? reprodu??o da pobreza e da exclus?o social no espa?o urbano de Manaus. Partimos do entendimento de que os programas assistenciais implantados nesta cidade podem se constituir em espa?o onde ? poss?vel observar, dentre outras quest?es que podem ser suscitadas no contexto das pol?ticas sociais no capitalismo perif?rico, as contradi??es que...

  20. Improvement of Haramay Fiber by Pre-treatment of Retting Process withPhosphoric Acid

    International Nuclear Information System (INIS)

    Kuntari-Sasas; Neni-Rustini Eriawati

    2000-01-01

    Haramay as bast fiber contains of cellulose fiber as the main part, mixedwith hemi cellulose, pectin, and lignin as binding material for cellulosefiber to keep it together in the bundle form. For textile material, this bastfiber has to be freed from its binding material, called as retting process,before subjecting to scouring, dyeing and finishing process in textileindustry. In the retting process the dissolve of binding material can be doneeither by using enzyme in bio technology or extraction with strong alkalinecondition in common technology. Using sodium hydroxide for dissolving thebinding material can be carried out easily with good dissolving ability, butcan render the strength retention of the cellulose fiber. Pre-treatment ofthe bast fiber with phosphoric acid (H 3 PO 4 ), is expected to hydrolyze someof the binding materials that can not be dissolved in alkaline condition,including natural pigment that colored the fiber with creamy white. In thisstudy, the pre-treatment process before retting with phosphoric acid wascarried out in various condition, such as concentration of phosphoric acid (5ml/l- 25 ml/l), time and temperature of pre-treatment (1-3 hours at 50 o C or12-24 hours at room temperature), followed by neutralization in dilutealkaline. The retting process was carried out by means of scouring in variousconcentration of sodium hydroxide (NaOH 38 o Be, 10 ml/l-30 m/l), and then wascontinued with bleaching process in hydrogen peroxide solution. Aftercarrying out those experiment, the bast fiber that called haramay wassubjected to testing for weight reduction, strength retention and degree ofwhiteness. From the testing results it is concluded that pre-treatment withphosphoric acid can increase the weight reduction, strength retention ortenacity and degree of whiteness of haramay fiber compared to the oneswithout pre-treatment with phosphoric acid. The best result was obtained bypre-treatment with 5 ml/l H 3 PO 4 at 50 o C for 2 hours, continued by

  1. Le facteur humain et la sûreté de fonctionnement dans le ...

    African Journals Online (AJOL)

    Notre contribution porte sur le rôle fondamental du facteur humain dans le management intégré des risques d'une part et du rôle déterminant qu'il peut avoir à jouer pour que la sûreté de fonctionnement réponde à sa propriété d'autre part. Un rôle illustré à travers une analyse de risque dans un complexe de Gaz Naturel ...

  2. Análisis retórico del esténcil o estarcido

    Directory of Open Access Journals (Sweden)

    Heiner Mercado-Percia

    2012-01-01

    Full Text Available En esta exposición intentaré dar respuesta a las siguientes preguntas: ¿Puede expresarse un discurso retórico por medio de una imagen? Y si esto es posible ¿cómo esta imagen puede persuadir a un auditorio? Estas preguntas surgen a partir de una imagen de esténcil o estarcido llamada Disney War,apareció en los muros de muchas ciudades del mundo, incluida Medellín, y que es promocionada o expuesta a través de la Internet.

  3. Book Review: Zarzo, E. (2016), Memoria Retórica y Experiencia Estética. Retórica, Estética y Educación. Madrid: Dykinson

    OpenAIRE

    Davide Mombelli

    2016-01-01

    Memoria retórica y experiencia estética. Retórica, Estética y Educación, recently published by Dykinson, is a fundamental body of research on rhetoric memory and aesthetic experience, two objects of study which, although having generated much literature separately, have not been considered in their reciprocity until now. The author, Esther Zarzo, who earned her Ph.D. in Philosophy, has published several investigations of both a theoretical and practical nature concerning the treatment and...

  4. RET/PTC1-Driven Neoplastic Transformation and Proinvasive Phenotype of Human Thyrocytes Involve Met Induction and β-Catenin Nuclear Translocation

    Directory of Open Access Journals (Sweden)

    Giuliana Cassinelli

    2009-01-01

    Full Text Available Activation of the RET gene by chromosomal rearrangements generating RET/PTC oncogenes is a frequent, early, and causative event in papillary thyroid carcinoma (PTC. We have previously shown that, in human primary thyrocytes, RET/PTC1 induces a transcriptional program including the MET proto-oncogene. In PTCs, β-catenin is frequently mislocated to the cytoplasm nucleus. We investigated the interplay between Ret/ptc1 signaling and Met in regulating the proinvasive phenotype and β-catenin localization in cellular models of human PTC. Here, we show that Met protein is expressed and is constitutively active in human thyrocytes exogenously expressing RET/PTC1 as well as a mutant (Y451F devoid of the main Ret/ptc1 multidocking site. Both in transformed thyrocytes and in the human PTC cell line TPC-1, Ret/ptc1-Y451-dependent signaling and Met cooperated to promote a proinvasive phenotype. Accordingly, gene/functional silencing of either RET/PTC1 or MET abrogated early branching morphogenesis in TPC-1 cells. The same effect was obtained by blocking the common downstream effector Akt. Y451 of Ret/ptc1 was required to promote proliferation and nuclear translocation of β-catenin, suggesting that these oncogene-driven effects are Met-independent. Pharmacologic inhibition of Ret/ptc1 and Met tyrosine kinases by the multitarget small molecule RPI-1 blocked cell proliferation and invasive ability and dislocated β-catenin from the nucleus. Altogether, these results support that Ret/ptc1 cross talks with Met at transcriptional and signaling levels and promotes β-catenin transcriptional activity to drive thyrocyte neoplastic transformation. Such molecular network, promoting disease initiation and acquisition of a proinvasive phenotype, highlights new options to design multitarget therapeutic strategies for PTCs.

  5. RET/PTC1-Driven Neoplastic Transformation and Proinvasive Phenotype of Human Thyrocytes Involve Met Induction and β-Catenin Nuclear Translocation1

    Science.gov (United States)

    Cassinelli, Giuliana; Favini, Enrica; Degl'Innocenti, Debora; Salvi, Alessandro; De Petro, Giuseppina; Pierotti, Marco A; Zunino, Franco; Borrello, Maria Grazia; Lanzi, Cinzia

    2009-01-01

    Activation of the RET gene by chromosomal rearrangements generating RET/PTC oncogenes is a frequent, early, and causative event in papillary thyroid carcinoma (PTC). We have previously shown that, in human primary thyrocytes, RET/PTC1 induces a transcriptional program including the MET proto-oncogene. In PTCs, β-catenin is frequently mislocated to the cytoplasm nucleus. We investigated the interplay between Ret/ptc1 signaling and Met in regulating the proinvasive phenotype and β-catenin localization in cellular models of human PTC. Here, we show that Met protein is expressed and is constitutively active in human thyrocytes exogenously expressing RET/PTC1 as well as a mutant (Y451F) devoid of the main Ret/ptc1 multidocking site. Both in transformed thyrocytes and in the human PTC cell line TPC-1, Ret/ptc1-Y451-dependent signaling and Met cooperated to promote a proinvasive phenotype. Accordingly, gene/functional silencing of either RET/PTC1 or MET abrogated early branching morphogenesis in TPC-1 cells. The same effect was obtained by blocking the common downstream effector Akt. Y451 of Ret/ptc1 was required to promote proliferation and nuclear translocation of β-catenin, suggesting that these oncogene-driven effects are Met-independent. Pharmacologic inhibition of Ret/ptc1 and Met tyrosine kinases by the multitarget small molecule RPI-1 blocked cell proliferation and invasive ability and dislocated β-catenin from the nucleus. Altogether, these results support that Ret/ptc1 cross talks with Met at transcriptional and signaling levels and promotes β-catenin transcriptional activity to drive thyrocyte neoplastic transformation. Such molecular network, promoting disease initiation and acquisition of a proinvasive phenotype, highlights new options to design multitarget therapeutic strategies for PTCs. PMID:19107227

  6. La red de técnicos en salud (rets: logros y desafíos The network of health technicians (rets: achievements and challenges

    Directory of Open Access Journals (Sweden)

    Alcira Castillo Martínez

    2005-03-01

    Full Text Available Se presenta una experiencia de cooperación en red de instituciones de formación de técnicos en salud y la facilitación de la Organización Panamericana de la Salud (OPS, incluyendo el contexto de cambio y las nuevas políticas de recursos humanos con sus implicaciones en el mundo del trabajo y la educación. Constituye una síntesis integradora de los procesos socio-afectivos y técnicos que le dan fuerza y dinámica a la Red de Técnicos en Salud (Rets. Se considera su creación, objetivos, estructura y organización, así como la gestión de la OPS y de los actores institucionales denominados Núcleos de Desarrollo (Nudes con sus proyectos dinamizadores. Por último, se señalan las valoraciones y avances de lo realizado por los actores de los distintos países de América Latina y el Caribe Hispano. Se destaca la utilización de novedosos mecanismos de gestión en la cooperación técnica al reflexionar sobre los factores que influyen en la sostenibilidad y el éxito de experiencias en red con potencial movilizador y articulador para la cooperación horizontal en un mundo globalizado.This article relates an experience of cooperation through a network of institutions oriented to the training of health technicians, under the guidance of the Pan-American Health Organization (OPS. It also deals with present changes in the field and with the new human resources policies, with their respective implications in the world of work and of education. The experience may be regarded as an attempt to integrate the social-affective and technical processes that give strength and dynamism to the Network of Health Technicians (Rets. We examine its creation, objectives, structure and organization, as well as the OPS' management and the role of the institutional actors called Development Nuclei (Nudes and their stimulating projects. Finally, we point to the advantages and progressive characteristics of the work done by professionals in the various Latin

  7. Application of RetCamⅡ in the screening of neonatal fundus disease

    Directory of Open Access Journals (Sweden)

    Zhi-Gang Xiao

    2013-08-01

    Full Text Available AIM: To investigate the safe and reliable examination method for neonatal fundus screening.METHODS: Fundus information of 2 836 neonates performed by RetCamⅡ in our hospital from January 1, 2012 to December 31, 2012 were retrospectively analyzed, including 1 625 cases(57.30%of premature infants which were first examined 1-4 weeks after birth and 1 211 cases(42.70%of term infants which were first examined within 4 weeks after birth.RESULTS: Totally 454 cases of abnormalfundus were found, including 207 cases(12.74%of retinopathy of prematurity(ROP, ROPⅠ in 118 cases(57%, ROPⅡ in 58 cases(28.02%, ROPⅢ in 23 cases(11.11%, ROPⅣ in 8 cases(3.86%, no case of ROPV. A total of 247(20.40%term infants had abnormal fundus, of which 68 cases(27.53%were developmental or hereditary disease, retinoblastoma in 1 case(0.40%, retinal hemorrhage in 102 cases(41.30%, retinal exudative changes in 68 cases(27.53%, optic atrophy in 5 cases(2.02%and optic disc edema in 3 cases(1.21%.CONCLUSION: Neonatal fundus diseases were so various and harmful that early screening should be attended to. Premature infants and term infants with high risk are treated as focus group of fundus screening and RetCamII examination is safe and effective.

  8. miR-449 overexpression inhibits papillary thyroid carcinoma cell growth by targeting RET kinase-β-catenin signaling pathway.

    Science.gov (United States)

    Li, Zongyu; Huang, Xin; Xu, Jinkai; Su, Qinghua; Zhao, Jun; Ma, Jiancang

    2016-10-01

    Papillary thyroid carcinoma (PTC) is the most common thyroid cancer and represent approximately 80% of all thyroid cancers. The present study is aimed to investigate the role of microRNA (miR)-449 in the progression of PTC. Our results revealed that miR-449 was underexpressed in the collected PTC specimens compared with non-cancerous PTC tissues. Overexpression of miR-449 induced a cell cycle arrest at G0/G1 phase and inhibited PTC cell growth in vitro. Further studies revealed that RET proto-oncogene (RET) is a novel miR-449 target, due to miR-449 bound directly to its 3'-untranslated region and miR-449 mimic reduced the protein expression of RET. Similar to the effects of miR-449 overexpression, RET downregulation inhibited cell growth, whereas RET overexpression reversed the inhibitive effect of miR-449 mimic. Furthermore, miR-449 overexpression inhibited the nuclear translocation of β-catenin and reduced the expression of several downstream genes, including c-Myc, cyclin D1, T cell-specific transcription factor (TCF) and lymphoid enhancer-binding factor 1 (LEF-1), and inactivated the β-catenin pathway in TPC-1 cells. Moreover, overexpression of β-catenin prevented miR-449-reduced cell cycle arrest and cell viability. In xenograft animal experiments, miR-449 overexpression effectively suppressed the tumor growth of PTC. Taken together, our research indicated that miR-449 functions as an anti-oncogene by targeting RET, and that miR-449 overexpression inhibited the growth of PTC by inactivating the β-catenin pathway. Thus, miR-449 may serve as a potential therapeutic strategy for the treatment of PTC.

  9. Technical evaluation of RETS-required reports for Browns Ferry Nuclear Power Station, Units 1, 2, and 3, for 1983

    International Nuclear Information System (INIS)

    Young, T.E.; Magleby, E.H.

    1985-01-01

    A review was performed of reports required by federal regulations and the plant-specific radiological effluent technical specifications (RETS) for operations conducted at Tennessee Valley Authority's Browns Ferry Nuclear Station, Units 1, 2, and 3, during 1983. The two periodic reports reviewed were (a) the Effluents and Waste Disposal Semiannual Report, First Half 1983 and (b) the Effluents and Waste Disposal Semiannual Report, Second Half 1983. The principal review guidelines were the plant's specific RETs and NRC guidance given in NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants.'' The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  10. Technical evaluation of RETS-required reports for Zion Nuclear Power Station, Units 1 and 2 for 1983

    International Nuclear Information System (INIS)

    Young, T.E.; Magleby, E.H.

    1985-01-01

    A review was performed on the reports required by Federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted at Commonwealth Edison's Zion Nuclear Power Station during 1983. The two periodic reports reviewed: (1) were the Effluent and Waste Disposal Semiannual Report, July-December 1983, and (2) the Radioactive Waste and Environmental Monitoring Annual Report - 1983. The principal review guidelines were the plant's specific RETS and NRC guidance given in NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants.'' The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  11. Technical evaluation of RETS-required reports for the Edwin I. Hatch Nuclear Plant, Units 1 and 2

    International Nuclear Information System (INIS)

    Young, T.E.; Magleby, E.H.

    1985-01-01

    A review of the reports required by federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted during 1983 was performed. The periodic reports reviewed for the Edwin I. Hatch Nuclear Plant were the Annual Radiological Environmental Operating Report for 1983 and the Semiannual Radioactive Effluent Release Reports for 1983. The principal review guidelines were the plant's specific RETS, NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants'', and NRC Guidance on the Review of the Process Control Programs. The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines. 7 refs

  12. Technical evaluation of RETS-required reports for Rancho Seco Nuclear Generating Station, Unit 1 for 1983

    International Nuclear Information System (INIS)

    Magleby, E.H.; Young, T.E.

    1985-01-01

    A review of the reports required by Federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted during 1983 was performed. The periodic reports reviewed for the Rancho Seco Nuclear Generating Station, Unit 1 were the Semiannual Effluent Release Report, January 1, 1983 to June 30, 1983 and the Radiation Exposure, Environmental Protection, Effluent and Waste Disposal Report. The principal review guidelines were the plant's specific RETS which were based on NRC guidance given in NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants.'' The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  13. The value of Ret-Hb and sTfR in the diagnosis of iron depletion in healthy, young children

    NARCIS (Netherlands)

    Uijterschout, L.; Domellöf, M.; Vloemans, J.; Vos, R.; Hudig, C.; Bubbers, S.; Verbruggen, S.; Veldhorst, M.; de Leeuw, T.; Teunisse, P. P.; van Goudoever, J. B.; Brus, F.

    2014-01-01

    Reticulocyte hemoglobin (Ret-Hb) content and soluble transferrin receptor (sTfR) are described as promising biomarkers in the analysis of iron status. However, the value of Ret-Hb and sTfR in the early detection of iron depletion, as frequently observed in children in high-income countries, is

  14. Zebrafish GDNF and its co-receptor GFRα1 activate the human RET receptor and promote the survival of dopaminergic neurons in vitro.

    Directory of Open Access Journals (Sweden)

    Tuulia Saarenpää

    Full Text Available Glial cell line-derived neurotrophic factor (GDNF is a ligand that activates, through co-receptor GDNF family receptor alpha-1 (GFRα1 and receptor tyrosine kinase "RET", several signaling pathways crucial in the development and sustainment of multiple neuronal populations. We decided to study whether non-mammalian orthologs of these three proteins have conserved their function: can they activate the human counterparts? Using the baculovirus expression system, we expressed and purified Danio rerio RET, and its binding partners GFRα1 and GDNF, and Drosophila melanogaster RET and two isoforms of co-receptor GDNF receptor-like. Our results report high-level insect cell expression of post-translationally modified and dimerized zebrafish RET and its binding partners. We also found that zebrafish GFRα1 and GDNF are comparably active as mammalian cell-produced ones. We also report the first measurements of the affinity of the complex to RET in solution: at least for zebrafish, the Kd for GFRα1-GDNF binding RET is 5.9 μM. Surprisingly, we also found that zebrafish GDNF as well as zebrafish GFRα1 robustly activated human RET signaling and promoted the survival of cultured mouse dopaminergic neurons with comparable efficiency to mammalian GDNF, unlike E. coli-produced human proteins. These results contradict previous studies suggesting that mammalian GFRα1 and GDNF cannot bind and activate non-mammalian RET and vice versa.

  15. Investigation of the bacterial retting community of kenaf (Hibiscus cannabinus) under different conditions using next-generation semiconductor sequencing

    Science.gov (United States)

    The use of the natural fibers requires the development of cost-efficient processing of fibers with consistent, uniform properties. The microbial communities associated with kenaf (Hibiscus cannabinus) plant fibers during retting were determined in an effort to identify possible means of accelerating...

  16. Risøs virksomhedsregnskab 1999. Opfølgning på planerne for året 1999

    DEFF Research Database (Denmark)

    Forskningscenter Risø, Roskilde

    2000-01-01

    Risøs Virksomhedsregnskab 1999 er en opfølgning på planerne for Risøs virksomhed i 1999. Risøs bestyrelse skal som led i resultatkontrakten med Forskningsministeriet aflægge årlige rapporter om opfyldelsen af de fastlagte resultatkrav. Derudover gives engenerel overordnet rapportering af årets re...

  17. Loss of p53 promotes anaplasia and local invasion in ret/PTC1-induced thyroid carcinomas.

    Science.gov (United States)

    La Perle, K M; Jhiang, S M; Capen, C C

    2000-08-01

    Papillary thyroid carcinomas in humans are associated with the ret/PTC oncogene and, following loss of p53 function, may progress to anaplastic carcinomas. Mice with thyroid-targeted expression of ret/PTC1 developed papillary thyroid carcinomas that were minimally invasive and did not metastasize. These mice were crossed with p53-/- mice to investigate whether loss of p53 would promote anaplasia and metastasis of ret/PTC1-induced thyroid tumors. The majority of p53-/- mice died or were euthanized by 17 weeks of age due to the development of thymic lymphomas, soft tissue sarcomas, and testicular teratomas. All ret/PTC1 mice developed thyroid carcinomas, but tumors in p53-/- mice were more anaplastic, larger in diameter, more invasive, and had a higher mitotic index than tumors in p53+/+ and p53+/- mice. Thyroid tumors did not metastasize in any of the experimental p53+/+ and p53+/- mice anaplasia and invasiveness of thyroid carcinomas.

  18. SorLA controls neurotrophic activity by sorting of GDNF and its receptors GFRα1 and RET

    DEFF Research Database (Denmark)

    Glerup, Simon; Lume, Maria; Olsen, Ditte

    2013-01-01

    is targeted to lysosomes and degraded while GFRα1 recycles, creating an efficient GDNF clearance pathway. The SorLA/GFRα1 complex further targets RET for endocytosis but not for degradation, affecting GDNF-induced neurotrophic activities. SorLA-deficient mice display elevated GDNF levels, altered dopaminergic...

  19. Phylogenetic analysis of the kenaf fiber microbial retting community by semiconductor sequencing of 16S rDNA amplicons

    Science.gov (United States)

    Kenaf, hemp, and jute have been used for cordage and fiber production since prehistory. To obtain the fibers, harvested plants are soaked in ponds where indigenous microflora digests pectins and other heteropolysaccharides, releasing fibers in a process called retting. Renewed interest in “green” ...

  20. Vindicación y elogio de la retórica deliberativa: glosas de Aristóteles

    Directory of Open Access Journals (Sweden)

    Vega Reñón, Luis

    2013-06-01

    Full Text Available Today we are witnessing the increasing interest in the argumentative rhetoric because of its close relationship with the public discourse. Two points have been highlighted in this regard: 1, the contribution of rhetoric to the critical revision of the ongoing programs of the so-called “deliberative democracy”; 2, the reading of Aristotle’s Rhetoric in line with these critical purposes. The aim of my paper is to develop this second point through an examination of the Aristotelian conception of rhetoric and his vindication of public deliberation.Hoy estamos asistiendo a un creciente interés por la retórica argumentativa debido a su estrecha relación con el discurso público. Tienen especial relieve dos puntos a este respecto: 1, la contribución de la retórica a la revisión crítica de los programas en curso de la llamada “democracia deliberativa”; 2, la lectura de la Retórica de Aristóteles en la línea de estos propósitos críticos. Mi artículo se propone desarrollar este segundo punto a través de un examen de la concepción aristotélica de la retórica y de su vindicación de la deliberación pública.

  1. Retórica fotográfica. Ingenio y provocación

    Directory of Open Access Journals (Sweden)

    Rafael Gómez Alonso

    2012-04-01

    Full Text Available La fotografía es uno de los medios visuales que más ha evolucionado, desde sus orígenes a mediados del siglo XIX hasta la actualidad, en sus formas de representación visual. La articulación de su lenguaje como medio de comunicación se vale de distintos modos de expresión, y en este sentido, la retórica juega un papel importante a la hora de ofrecer varias posibilidades de aplicación, en donde el ingenio y la utilización de sus capacidades estéticas (diseño, técnicas (instrumentos tecnológicos, culturales (reflejo de las prácticas sociales y argumentativas (cualidades narrativas son las claves de su sentido creativo.

  2. La retórica de lo extremo en la ultraderecha chilena

    Directory of Open Access Journals (Sweden)

    Juan Antonio González de Requena Farré

    2017-01-01

    Full Text Available Este artículo pretende caracterizar la ideología de la extrema de - recha chilena a través de su historia. Se realizó un análisis del discurso de los manifiestos y declaraciones de principios de cua - tro formaciones de ultraderecha de distintos momentos de la his- toria de Chile: el Movimiento Nacional Socialista, el Movimien - to Revolucionario Nacional Sindicalista, el Frente Nacionalista Patria y Libertad, así como Patria Nueva Sociedad. El enfoque retórico de la ideología ultraderechista permite reconstruir las autodescripciones ideológicas, las articulaciones del autoritaris- mo, los marcos figurativos y las principales construcciones argu - mentativas de la extrema derecha chilena.

  3. Relações retóricas estabelecidas por orações gerundiais adverbiais

    Directory of Open Access Journals (Sweden)

    Juliano Desiderato Antonio

    2012-01-01

    Full Text Available O objetivo deste trabalho é propor critérios para identificação das relações implícitas estabelecidas por orações gerundiais adverbiais em um corpus formado por elocuções formais (aulas e entrevistas. Para isso, tomam-se como fundamento teórico da pesquisa duas teorias funcionalistas, a Teoria da Estrutura Retórica do Texto (RST e a Gramática Discursivo-Funcional (GDF. Na visão da RST, além do conteúdo explícito veiculado pelas orações de um texto, há proposições implícitas que surgem das relações que se estabelecem entre partes do texto. Foram utilizados os parâmetros da GDF, factualidade, pressuposição, e as camadas dos níveis representacional e interpessoal em que ocorrem as orações para a identificação das relações retóricas estabelecidas pelas orações gerundiais adverbiais. Foram encontradas relações de meio, de resultado, de condição e de propósito, o que não significa que não se reconheça, neste trabalho, que outras relações como tempo (anterioridade, posterioridade, simultaneidade, concessão, causa, dentre outras, podem ser estabelecidas por orações gerundiais adverbiais. Os parâmetros da GDF demonstraram ser eficientes na identificação das relações.

  4. Bioelectricity generation from coconut husk retting wastewater in fed batch operating microbial fuel cell by phenol degrading microorganism

    International Nuclear Information System (INIS)

    Jayashree, C.; Arulazhagan, P.; Adish Kumar, S.; Kaliappan, S.; Yeom, Ick Tae; Rajesh Banu, J.

    2014-01-01

    Dual chamber microbial fuel cell (MFC) operated at fed batch mode for the treatment of retting wastewater has potently achieved both current generation and phenol removal. Hydraulic retention time (HRT) of the reactor was varied from 40 days to 10 days. COD (chemical oxygen demand) removal was 91% at 40 days HRT, with an initial COD concentration of 530 ± 50 g m −3 . Retting wastewater with an initial phenol concentration of 320 ± 60 g m −3 procured a highest phenol removal of 93% at 40 days HRT of the microbial fuel cell. Maximum power density of 362 mW m −2 was achieved using retting wastewater at HRT of 20 days with an internal resistance of 150 Ω in a dual chambered MFC. The bacterial strains in anode region, reported to be responsible for potential phenol removal, were identified as Ochrobactrum sp. RA1 (KJ408266), Ochrobactrum sp. RA2 (KJ408267) and Pesudomonas aeruginosa RA3 (KJ408268) using phylogenetic analysis. The study reveals that, dual chambered MFC effectively removed the phenol from retting wastewater along with power generation. - Highlights: • Maximum power density of 362 mW m −2 (150 Ω) was achieved at HRT of 20 days. • 91% COD removal and 93% phenol removal was observed at HRT of 40 days. • 25% coulombic efficiency was achieved in treatment of retting wastewater with MFC. • Phylogenetic analysis detect phenol degrading Ochrobactrum sp.RA1 in anode biofilm. • In addition, Ochrobactrum sp.RA2 and Pseudomonas aeruginosa RA3 were also isolated

  5. Retórica aplicada a la Enseñanza del Diseño Gráfico

    Directory of Open Access Journals (Sweden)

    Roberto Gamonal Arroyo

    2011-11-01

    Full Text Available Los conceptos fundamentales de la Retórica para la creación del discurso se pueden trasladar al Diseño Gráfico con la finalidad de construir piezas gráficas que son consideradas, a su vez, discursos visuales. En este sentido, tanto las operaciones retóricas como las figuras derivadas de ellas tienen un papel fundamental como elementos detonantes de la creatividad. Para evitar el uso de las figuras como un mero recurso estilístico, un error histórico cometido por la propia Retórica, éstas se convierten en la expresión figurada de un argumento en el que se modifica su grado cero para que resulte más llamativo e impactante a la audiencia a la que va dirigida el mensaje gráfico. A través de unas simples operaciones de adición, supresión, sustitución y permutación se producen variaciones de los elementos gráficos y de su grado cero de expresión (concepto del Grupo m que se cristalizan en figuras retóricas que generan nuevas composiciones con mayor potencia expresiva y creativa. En este artículo veremos cómo los estudiantes aplican estos conceptos retóricos para la conceptualización, creación y diseño de cubiertas para libros.

  6. Low dose irradiation of thyroid cells reveals a unique transcriptomic and epigenetic signature in RET/PTC-positive cells

    Energy Technology Data Exchange (ETDEWEB)

    Abou-El-Ardat, Khalil, E-mail: kabouela@sckcen.be [Radiobiology Unit, Molecular and Cellular Biology, GKD Building, Studiecentrum voor Kernenergie - Centre d' Etude de l' Energie Nucleaire (SCK-CEN), Boeretang 200, 2400 Mol (Belgium); Department of Molecular Biotechnology, Faculty of Bioscience Engineering, Universiteit Gent, 9000 Ghent (Belgium); Monsieurs, Pieter [Radiobiology Unit, Molecular and Cellular Biology, GKD Building, Studiecentrum voor Kernenergie - Centre d' Etude de l' Energie Nucleaire (SCK-CEN), Boeretang 200, 2400 Mol (Belgium); Anastasov, Natasa; Atkinson, Mike [Department of Radiation Sciences, Helmholtz Zentrum Muenchen, Munich (Germany); Derradji, Hanane [Radiobiology Unit, Molecular and Cellular Biology, GKD Building, Studiecentrum voor Kernenergie - Centre d' Etude de l' Energie Nucleaire (SCK-CEN), Boeretang 200, 2400 Mol (Belgium); De Meyer, Tim [Department of Molecular Biotechnology, Faculty of Bioscience Engineering, Universiteit Gent, 9000 Ghent (Belgium); Department of Applied Mathematics, Biometrics and Process Control, Faculty of Bioscience Engineering, Universiteit Gent, 9000 Ghent (Belgium); Bekaert, Sofie [Clinical Research Center, Faculty for Medicine and Health Sciences, Universiteit Gent, 185 De Pintelaan, 9000 Ghent (Belgium); Van Criekinge, Wim [Department of Molecular Biotechnology, Faculty of Bioscience Engineering, Universiteit Gent, 9000 Ghent (Belgium); and others

    2012-03-01

    The high doses of radiation received in the wake of the Chernobyl incident and the atomic bombing of Hiroshima and Nagasaki have been linked to the increased appearance of thyroid cancer in the children living in the vicinity of the site. However, the data gathered on the effect of low doses of radiation on the thyroid remain limited. We have examined the genome wide transcriptional response of a culture of TPC-1 human cell line of papillary thyroid carcinoma origin with a RET/PTC1 translocation to various doses (0.0625, 0.5, and 4 Gy) of X-rays and compared it to response of thyroids with a RET/PTC3 translocation and against wild-type mouse thyroids irradiated with the same doses using Affymetrix microarrays. We have found considerable overlap at a high dose of 4 Gy in both RET/PTC-positive systems but no common genes at 62.5 mGy. In addition, the response of RET/PTC-positive system at all doses was distinct from the response of wild-type thyroids with both systems signaling down different pathways. Analysis of the response of microRNAs in TPC-1 cells revealed a radiation-responsive signature of microRNAs in addition to dose-responsive microRNAs. Our results point to the fact that a low dose of X-rays seems to have a significant proliferative effect on normal thyroids. This observation should be studied further as opposed to its effect on RET/PTC-positive thyroids which was subtle, anti-proliferative and system-dependent.

  7. Characterization of Bacterial and Fungal Community Dynamics by High-Throughput Sequencing (HTS Metabarcoding during Flax Dew-Retting

    Directory of Open Access Journals (Sweden)

    Christophe Djemiel

    2017-10-01

    Full Text Available Flax dew-retting is a key step in the industrial extraction of fibers from flax stems and is dependent upon the production of a battery of hydrolytic enzymes produced by micro-organisms during this process. To explore the diversity and dynamics of bacterial and fungal communities involved in this process we applied a high-throughput sequencing (HTS DNA metabarcoding approach (16S rRNA/ITS region, Illumina Miseq on plant and soil samples obtained over a period of 7 weeks in July and August 2014. Twenty-three bacterial and six fungal phyla were identified in soil samples and 11 bacterial and four fungal phyla in plant samples. Dominant phyla were Proteobacteria, Bacteroidetes, Actinobacteria, and Firmicutes (bacteria and Ascomycota, Basidiomycota, and Zygomycota (fungi all of which have been previously associated with flax dew-retting except for Bacteroidetes and Basidiomycota that were identified for the first time. Rare phyla also identified for the first time in this process included Acidobacteria, CKC4, Chlorobi, Fibrobacteres, Gemmatimonadetes, Nitrospirae and TM6 (bacteria, and Chytridiomycota (fungi. No differences in microbial communities and colonization dynamics were observed between early and standard flax harvests. In contrast, the common agricultural practice of swath turning affects both bacterial and fungal community membership and structure in straw samples and may contribute to a more uniform retting. Prediction of community function using PICRUSt indicated the presence of a large collection of potential bacterial enzymes capable of hydrolyzing backbones and side-chains of cell wall polysaccharides. Assignment of functional guild (functional group using FUNGuild software highlighted a change from parasitic to saprophytic trophic modes in fungi during retting. This work provides the first exhaustive description of the microbial communities involved in flax dew-retting and will provide a valuable benchmark in future studies aiming

  8. Establishment of a non-tumorigenic papillary thyroid cell line (FB-2) carrying the RET/PTC1 rearrangement.

    Science.gov (United States)

    Basolo, Fulvio; Giannini, Riccardo; Toniolo, Antonio; Casalone, Rosario; Nikiforova, Marina; Pacini, Furio; Elisei, Rossella; Miccoli, Paolo; Berti, Piero; Faviana, Pinuccia; Fiore, Lisa; Monaco, Carmen; Pierantoni, Giovanna Maria; Fedele, Monica; Nikiforov, Yuri E; Santoro, Massimo; Fusco, Alfredo

    2002-02-10

    A novel human thyroid papillary carcinoma cell line (FB-2) has been established and characterized. FB-2 cells harbor the RET/PTC1 chimeric oncogene in which the RET kinase domain is fused to the H4 gene. FB-2 cells neither formed colonies in semisolid media nor induced tumors after heterotransplant into severe combined immunodeficient mice. However, HMGI(Y), HMGI-C and c-myc genes, which are associated to thyroid cell transformation, were abundantly expressed in FB-2 cells but not in normal thyroid cells. FB-2 cells only partially retained the differentiated thyroid phenotype. In fact, the PAX-8 gene, which codes for a transcriptional factor required for thyroid cell differentiation, was expressed, while thyroglobulin, TSH-receptor and thyroperoxidase genes were not. Moreover, FB-2 cells produced high levels of interleukin (IL)-6 and IL-8. Copyright 2001 Wiley-Liss, Inc.

  9. Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

    Science.gov (United States)

    Sribudiani, Y; Chauhan, R K; Alves, M M; Petrova, L; Brosens, E; Harrison, C; Wabbersen, T; de Graaf, B M; Rügenbrink, T; Burzynski, G; Brouwer, R W W; IJcken, W F J van; Maas, S M; de Klein, A; Osinga, J; Eggen, B J L; Burns, A J; Brooks, A S; Shepherd, I T; Hofstra, R M W

    2018-03-27

    Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation. We initially focused on variants in genes located in 4q31.3-q32.3. However, we also performed an exome-wide analysis in which known HSCR or HSCR-associated gene variants predicted to be deleterious were prioritized for further analysis. Candidate genes were expressed in HEK293, COS-7, and Neuro-2a cells and analyzed by luciferase and immunoblot assays. Morpholinos were designed to target exons of candidate genes and injected into 1-cell stage zebrafish embryos. Embryos were allowed to develop and stained for enteric neurons. Within the linkage region, we identified 1 putative splice variant in the LPS responsive beige-like anchor protein gene (LRBA). Functional assays could not confirm its predicted effect on mRNA splicing or on expression of the mab-21 like 2 gene (MAB21L2), which is embedded in LRBA. Zebrafish that developed following injection of the lrba morpholino had a shortened body axis and subtle gut morphological defects, but no significant reduction in number of enteric neurons compared with controls. Outside the linkage region, members of 1 branch of the family carried a previously unidentified RET variant or an in-frame deletion in the glial cell line derived neurotrophic factor gene (GDNF), which encodes a ligand of RET. This deletion was located 6 base pairs before the last codon. We also found variants in the indian hedgehog gene (IHH) and its mediator

  10. VizieR Online Data Catalog: The 4 brightest red giants in the UFD galaxy Ret 2 (Roederer+, 2016)

    Science.gov (United States)

    Roederer, I. U.; Mateo, M.; Bailey, J. I., III; Song, Y.; Bell, E. F.; Crane, J. D.; Loebman, S.; Nidever, D. L.; Olszewski, E. W.; Shectman, S. A.; Thompson, I. B.; Valluri, M.; Walker, M. G.

    2018-03-01

    There are only four stars brighter than the horizontal branch that are confirmed members of Ret 2 (Simon et al. 2015, J/ApJ/808/95; Walker et al. 2015, J/ApJ/808/108). We observed these four stars using one arm of the Michigan/Magellan Fiber System (M2FS) and MSpec double spectrograph (Bailey et al. 2012SPIE.8446E..5GB; Mateo et al. 2012SPIE.8446E..4YM) mounted on the Nasmyth platform at the 6.5 m Landon Clay Telescope (Magellan II) at Las Campanas Observatory, Chile. We observed four high-probability members of Ret 2 and one blank sky position simultaneously on 2015 November 14 and 16, with a total integration time of 6.67 hr. Both observations were taken in dark time. (4 data files).

  11. Aproximaciones retóricas al conflicto armado colombiano: una revisión bibliográfica

    Directory of Open Access Journals (Sweden)

    Giohanny Olave

    2014-01-01

    Full Text Available Este artículo relaciona investigaciones interesadas en la retórica del conflicto armado colombiano. Tales indagaciones plantean problemas de investigación alrededor del carácter persuasivo de los discursos del conflicto, desde disciplinas diversas. La consulta bibliográfica de base se complementó con una encuesta electrónica autoadministrada, dirigida a investigadores colombianos del discurso. En los resultados, se explican las principales problematizaciones que emergen de la revisión, presentándolas como aproximaciones retóricas que los autores trabajan con una mayor orientación hacia el ethos , el pathos o el logos . Una mirada relacional entre estos trabajos esclarece las tendencias investigativas sobre la violencia en clave discursiva y apunta el valor de esas contribuciones para los estudios sobre el conflicto armado.

  12. Technical evaluation of RETS-required reports for Crystal River Nuclear Generating Plant, Unit 3, for 1983

    International Nuclear Information System (INIS)

    Magleby, E.H.; Young, T.E.

    1985-01-01

    A review was performed on the reports required by Federal regulations and the plant-specific Radiological Effluent Technical Specifications (RETS) for operations conducted at Florida Power Corporation's Crystal River Nuclear Plant, Unit 3, during 1983. The three periodic reports reviewed were (1) the Effluent and Waste Disposal Semiannual Report, January 1-June 30, 1983, (2) the Effluent and Waste Disposal Semiannual Report, July 1-December 31, 1983, and (3) the Annual Environmental Operating Report, Radiological, 1983. The principal review guidelines were the plant's specific RETS and NRC guidance given in NUREG-0133, ''Preparation of Radiological Effluent Technical Specifications for Nuclear Power Plants.'' The Licensee's submitted reports were found to be reasonably complete and consistent with the review guidelines

  13. Formas retóricas de dizer: o jornalista Celso Ming e seus artigos de opinião

    OpenAIRE

    Santana, Maiara Pereira de

    2015-01-01

    Esta dissertação, produzida na linha Texto e discurso nas modalidades oral e escrita, do Programa de Estudos em Língua Portuguesa da Pontifícia Universidade Católica de São Paulo (PUC-SP), tem por objetivo realizar uma leitura retórica de artigo opinativo, especificamente, o de domínio econômico, escrito pelo jornalista Celso Ming para o jornal O Estado de São Paulo. Para análise, adota-se a perspectiva da retórica, arte e técnica grega, que se atém aos discursos que são passíveis de persuasã...

  14. [Dose-Response Dependences for Frequency of RET/PTC Gene Rearrangements in Papillary Thyroid Carcinoma after Irradiation. Simple Pooling Analysis of Molecular Epidemiological Data].

    Science.gov (United States)

    Koterov, A N; Ushenkova, L N; Biryukov, A P

    2016-01-01

    On the basis of all possible publications on the theme included in the previously formed base of sources on molecular epidemiology of RET/PTC rearrangements in thyroid papillary carcinoma a pooled analysis ("simple pooling data") on determination of the dose-effect dependences for RET/PTC frequency in radiogenic carcinomas of various irradiated groups was performed. (They are groups subjected to radiotherapeutic exposure, residents near the Chernobyl nuclear power plant (CNPP) and victims of nuclear bombing). The tendency to Pearson linear correlation (r = 0.746; p = 0.148) between the frequency of RET/PTC and the estimated dose on thyroid in the regions affected by the CNPP accident was revealed. But this tendency was recognized to be random owing to abnormally low values of the indicator for the most contaminated Gomel region. The method tentatively called "case-control" showed reliable differences in thyroid dose values for carcinomas with RET/PTC and without those. The versatility of changes was found: the lack of RET/PTC for radiotherapeutic impacts was associated with higher doses, whereas in case of the CNPP accident and for nuclear bombing victims it was the opposite. Probably, in the first case the "cellular cleaning" phenomenon after exposure to very high doses took place. Search of direct Pearson correlations between average/median thyroid doses on groups and RET/PTC frequency in carcinomas of these groups showed a high reliability for the dose-effect dependences- at the continuous dose scale (for RET/PTC in total and RET/PTC1 respectively: r = 0.830; p = 0.002 and r = 0.906; p = 0.0003); while there was no significant correlation received for RET/PTC3. When using the weighting least square regression analysis (proceeding from the number of carcinomas in samples), the specified regularities remained. Attempts to influence the strength of correlation by exception ofthe data of all the samples connected with the accident on the CNPP did not significantly

  15. Somatotropinomas, but not nonfunctioning pituitary adenomas, maintain a functional apoptotic RET/Pit1/ARF/p53 pathway that is blocked by excess GDNF.

    Science.gov (United States)

    Diaz-Rodriguez, Esther; Garcia-Rendueles, Angela R; Ibáñez-Costa, Alejandro; Gutierrez-Pascual, Ester; Garcia-Lavandeira, Montserrat; Leal, Alfonso; Japon, Miguel A; Soto, Alfonso; Venegas, Eva; Tinahones, Francisco J; Garcia-Arnes, Juan A; Benito, Pedro; Angeles Galvez, Maria; Jimenez-Reina, Luis; Bernabeu, Ignacio; Dieguez, Carlos; Luque, Raul M; Castaño, Justo P; Alvarez, Clara V

    2014-11-01

    Acromegaly is caused by somatotroph cell adenomas (somatotropinomas [ACROs]), which secrete GH. Human and rodent somatotroph cells express the RET receptor. In rodents, when normal somatotrophs are deprived of the RET ligand, GDNF (Glial Cell Derived Neurotrophic Factor), RET is processed intracellularly to induce overexpression of Pit1 [Transcription factor (gene : POUF1) essential for transcription of Pituitary hormones GH, PRL and TSHb], which in turn leads to p19Arf/p53-dependent apoptosis. Our purpose was to ascertain whether human ACROs maintain the RET/Pit1/p14ARF/p53/apoptosis pathway, relative to nonfunctioning pituitary adenomas (NFPAs). Apoptosis in the absence and presence of GDNF was studied in primary cultures of 8 ACROs and 3 NFPAs. Parallel protein extracts were analyzed for expression of RET, Pit1, p19Arf, p53, and phospho-Akt. When GDNF deprived, ACRO cells, but not NFPAs, presented marked level of apoptosis that was prevented in the presence of GDNF. Apoptosis was accompanied by RET processing, Pit1 accumulation, and p14ARF and p53 induction. GDNF prevented all these effects via activation of phospho-AKT. Overexpression of human Pit1 (hPit1) directly induced p19Arf/p53 and apoptosis in a pituitary cell line. Using in silico studies, 2 CCAAT/enhancer binding protein alpha (cEBPα) consensus-binding sites were found to be 100% conserved in mouse, rat, and hPit1 promoters. Deletion of 1 cEBPα site prevented the RET-induced increase in hPit1 promoter expression. TaqMan qRT-PCR (real time RT-PCR) for RET, Pit1, Arf, TP53, GDNF, steroidogenic factor 1, and GH was performed in RNA from whole ACRO and NFPA tumors. ACRO but not NFPA adenomas express RET and Pit1. GDNF expression in the tumors was positively correlated with RET and negatively correlated with p53. In conclusion, ACROs maintain an active RET/Pit1/p14Arf/p53/apoptosis pathway that is inhibited by GDNF. Disruption of GDNF's survival function might constitute a new therapeutic route in

  16. Microbiological and Biochemical Characterization of Cassava Retting, a Traditional Lactic Acid Fermentation for Foo-Foo (Cassava Flour) Production

    OpenAIRE

    Brauman, A.; Keleke, S.; Malonga, M.; Miambi, E.; Ampe, F.

    1996-01-01

    The overall kinetics of retting, a spontaneous fermentation of cassava roots performed in central Africa, was investigated in terms of microbial-population evolution and biochemical and physicochemical parameters. During the traditional process, endogenous cyanogens were almost totally degraded, plant cell walls were lysed by the simultaneous action of pectin methylesterase and pectate lysate, and organic acids (C2 to C4) were produced. Most microorganisms identified were found to be facultat...

  17. Retórica contrastiva y enseñanza del discurso formal en lenguas afines

    Directory of Open Access Journals (Sweden)

    Pilar Robles Garrote

    2014-08-01

    Full Text Available Normal 0 21 false false false ES X-NONE X-NONE El presente artículo trata de evidenciar la utilidad de la retórica contrastiva en la enseñanza del discurso formal en lenguas afines, aportando algunos datos empíricos obtenidos en un análisis lingüístico cuyo objetivo principal es determinar los puntos en común y divergencias encontradas en algunos recursos estilísticos propios del lenguaje formal en lengua española e italiana. Es un estudio de carácter exploratorio realizado a partir de un corpus oral de conferencias dictadas en lengua española e italiana por oradores nativos. Tras analizar y comparar los recursos estilísticos utilizados por los informantes (preguntas, ejemplos, citas y reiteraciones, los resultados revelan que, si bien los recursos del discurso oral formal encontrados en las conferencias analizadas poseen características análogas, existen divergencias entre estas dos lenguas afines que pueden confluir en una percepción distinta del aspecto pragmático.

  18. Application of 119Sn Moessbauer spectroscopy to investigations of RET2-X2-type phases

    International Nuclear Information System (INIS)

    Goerlich, E.

    1991-01-01

    Moessbauer spectroscopy of 119 Sn is an effective tool to study nuclear hyperfine interactions which in turn are important as a source of information complementary to that supplied by ''classical'' methods. However, particularly when the effects are subtle, experimental conditions as well as data analysis should be handled with care. The attention is devoted primarily to the finite absorber thickness effects. As examples serve our recent results obtained from investigations of ternary tetragonal phases of RET 2 X 2 -type. In EuPd 2 Si 2 mixed valent system 119 Sn was used as probe which detects the influence of Eu-valency change at a distant site of Si. Electrical resistivity measurements in CeNi 2 Sn 2 may indicate a Kondo-type behaviour while Moessbauer effect leads to the conclusion in favour of a magnetically ordered state. The analysis of resonance absorption spectra of CeAg 2 Sn 2 using a full transmission integral indicates the presence of a metallic β-tin in the sample, while data fitting within the thin absorber approximation has lead to the opposite conclusion. Neither in CeNi 2 Sn 2 nor in ErNi 2 Sn 2 the temperature dependence of the recoil free factors alone cannot explain the observed broadening of spectra at low temperatures. (author). 14 refs, 13 figs

  19. Analysis of action of device with spring pins for picking up of retted flax straw

    Directory of Open Access Journals (Sweden)

    V. G. Chernikov

    2016-01-01

    Full Text Available Weather conditions in flax cultivation areas during harvesting time can be characterized with high rainfalls, relative humidity and, in some areas, extremely low temperature. Clogging of fields with stones, grass germination through flax swaths, often an absence of homogeneity on length and thickness of straw in swaths require working out new devices for straw lifting. Existing devices for picking up do not provide a high-quality lifting of flax swaths and have a low coefficient of reliability of the process. Researches and experimental-design works were carried out to create a constructive-technological scheme of the picking up device of cylindrical type with spring-loaded rigid pins. The mathematical model of the device operation when a pin touching an obstacle. The condition of balance of the mechanism under which the pin of a cilinder will operate technological process of picking up of retted flax straw without action of the safety device (spring was described. The offered method of calculation of operation of this device was introduced in a common flax swath lifter-turners

  20. Sermão I de Santa Catarina: Latim e Retórica

    Directory of Open Access Journals (Sweden)

    João Bortolanza

    2007-07-01

    Full Text Available Este artigo mostra um pequeno resultado do projeto de pesquisa Ánálise do Latim empregado por Vieira em seus Sermões’. O latim é a própria retórica de Vieira e o levantamento das citações latinas permite reconstruir todo seu labor intelectual. É o que me proponho demonstrar no Sermão I de Santa Catarina, que tem como epígrafe e mote apenas a expressão latina ne forte. A expressão é extraída da frase das virgens prudentes ne forte sufficiat nobis et vobis. Esse “para que não por acaso” passa a ser explorado a partir da etimologia forte > Fortuna, esta, por sua vez, representada pela roda, a roda da Fortuna, sempre instável. E a roda, com a palma e a espada, é um dos troféus da vitória da virgem mártir Catarina em sua imagem. Desfilam frases dos textos sagrados e de clássicos, como Sêneca, Plínio e Plutarco.

  1. Resonance energy transfer (RET)-Induced intermolecular pairing force: a tunable weak interaction and its application in SWNT separation.

    Science.gov (United States)

    Pan, Xiaoyong; Chen, Hui; Wang, Wei Zhi; Ng, Siu Choon; Chan-Park, Mary B

    2011-07-21

    This paper explores evidence of an optically mediated interaction that is active in the separation mechanism of certain selective agents through consideration of the contrasting selective behaviors of two conjugated polymers with distinct optical properties. The involvement of a RET-induced intermolecular pairing force is implied by the different illumination response behaviors. The magnitude of this interaction scales with the external stimulus parameter, the illumination irradiance (I), and thus is tunable. This suggests a facile technique to modify the selectivity of polymers toward specific SWNT species by altering the polymer structure to adjust the corresponding intermolecular interaction. This is the first experimental verification and application of a RET-induced intermolecular pairing force to SWNT separation. With this kind of interaction taken into account, reasonable interpretation of some conflicting data, especially PLE maps, can be easily made. The above conclusion can be applied to other substances as long as they are electrically neutral and there is photon-induced RET between them. The significant magnitude of this interaction makes direct manipulation of molecules/particles possible and is expected to have applications in molecular engineering. © 2011 American Chemical Society

  2. Modulatory role of phospholipase D in the activation of signal transducer and activator of transcription (STAT-3 by thyroid oncogenic kinase RET/PTC

    Directory of Open Access Journals (Sweden)

    Kim Dong Wook

    2008-05-01

    Full Text Available Abstract Background RET/PTC (rearranged in transformation/papillary thyroid carcinomas gene rearrangements are the most frequent genetic alterations identified in papillary thyroid carcinoma. Although it has been established that RET/PTC kinase plays a crucial role in intracellular signaling pathways that regulate cellular transformation, growth, and proliferation in thyroid epithelial cells, the upstream signaling that leads to the activation of RET/PTC is largely unknown. Based on the observation of high levels of PLD expression in human papillary thyroid cancer tissues, we investigated whether PLD plays a role in the regulating the RET/PTC-induced STAT3 activation. Methods Cancer tissue samples were obtained from papillary thyroid cancer patients (n = 6. The expression level of PLD was examined using immunohistochemistry and western blotting. Direct interaction between RET/PTC and PLD was analyzed by co-immunoprecipitation assay. PLD activity was assessed by measuring the formation of [3H]phosphatidylbutanol, the product of PLD-mediated transphosphatidylation, in the presence of n-butanol. The transcriptional activity of STAT3 was assessed by m67 luciferase reporter assay. Results In human papillary thyroid cancer, the expression levels of PLD2 protein were higher than those in the corresponding paired normal tissues. PLD and RET/PTC could be co-immunoprecipitated from cells where each protein was over-expressed. In addition, the activation of PLD by pervanadate triggered phosphorylation of tyrosine 705 residue on STAT-3, and its phosphorylation was dramatically higher in TPC-1 cells (from papillary carcinoma that have an endogenous RET/PTC1 than in ARO cells (from anaplastic carcinoma without alteration of total STAT-3 expression. Moreover, the RET/PTC-mediated transcriptional activation of STAT-3 was synergistically increased by over-expression of PLD, whereas the PLD activity as a lipid hydrolyzing enzyme was not affected by RET

  3. La retórica y el análisis de la tecnología y de la sociedad actuales. Presentación.

    Directory of Open Access Journals (Sweden)

    Giorgio De Marchis

    2013-02-01

    Full Text Available Es un honor para mí presentar el segundo monográfico dedicado a la retórica de la revista académica Icono 14. El anterior fue el primer número del volumen 3, en 2005. Pasa el tiempo, y queda claro que la retórica no muere, sino que se transforma. Esto es así porque la retórica es el estudio de la comunicación eficaz. Todo emisor desea que su comunicación sea lo más efectiva posible, esto es, que la comunicación logre los objetivos del comunicador. Creo que una de las fortalezas de la retórica clásica es que ha construido un andamiaje muy sólido, ordenado, que permite un análisis estructurado, y sin embargo flexible, que le facilita adaptarse a los cambios tecnológicos y sociales. Algunos artículos publicados en este monográfico sirven de ejemplo de dicha estructura trabada, pero también maleable del análisis retórico. El presente monográfico pretende integrar la retórica clásica con la tecnología actual, y ambas con las formas de comunicación social que los cambios tecnológicos han propiciado. En este número se publican nueve artículos que se ocupan de muy distintos temas, y que demuestran fehacientemente qué es la aproximación retórica actual. A continuación anotaré algunos breves comentarios sobre los artículos publicados para que el lector dirija su atención hacia aquellos textos que más le pudieran interesar.

  4. A prova retórica do logos no filme narrativo de ficção

    Directory of Open Access Journals (Sweden)

    Carolina Assunção e ALVES

    2016-08-01

    Full Text Available RESUMO O logos consiste na prova retórica técnica/artística, segundo (Aristóteles, 2000, em que o orador demonstra ou tenta demonstrar a verdade pelo discurso; ou seja, trata-se do uso do raciocínio lógico com o objetivo de fundar uma proposição persuasiva. Para autores como (Amossy, 2006 e (Olbrechts-Tyteca e Perelman, 2008, os gêneros discursivos, uma vez que sempre visam a algum tipo de impacto sobre o público, são providos de argumentatividade em diferentes graus e intenções. Neste artigo, pretendemos discutir possibilidades de emprego da prova retórica do logos no filme narrativo de ficção, sob a perspectiva da análise argumentativa do discurso e da teoria semiolinguística (Charaudeau, 2001. O método utilizado consiste na aplicação de algumas categorias do logos à análise argumentativo-discursiva de algumas sequências do filme O Poderoso Chefão II (The Godfather Part II, 1974, de Francis Ford Coppola, levando em consideração os elementos da linguagem cinematográfica envolvidos. Esta pesquisa permitiu verificar a proficuidade da abordagem do filme de ficção como objeto de estudo nessa área, bem como a relação intrínseca entre as provas retóricas do ethos, do pathos e do logos.

  5. IMPACT OF JUTE RETTING ON NATIVE FISH DIVERSITY AND AQUATIC HEALTH OF ROADSIDE TRANSITORY WATER BODIES: AN ASSESSMENT IN EASTERN INDIA

    Directory of Open Access Journals (Sweden)

    Dipankar Ghosh

    2015-09-01

    Full Text Available Roadside transitory water bodies being manmade depressions have a great ecological and socio-economic importance from years. The effects of agricultural runoffs, jute retting, macro-phytes infestations and inadequate rainfall in changed climate often degrade transitory water bodies’ environment while the biodiversity have impacted severely because of population pressure, over exploitation and indiscriminate use of fine meshed fishing gears as a whole. Physico-chemical and biological analysis with fish species composition, relative abundance, diversity indices like species richness, evenness and Shannon-Wiener index were carried out for pre-, during and post-jute retting season and for year mean as a whole to assess impact of jute retting on the roadside transitory water body’s environmental health and indigenous fish diversity at Sahebnagar village in Nadia District, India. All the physico-chemical parameters barring biochemical oxygen demand and water transparency remained more or less same or marginally got little changed during those three seasons. As much as 19 native fish species with varied relative abundances and dominances were identified. Jute retting impacted lower native fish diversity indices like Shannon-Wiener index values (1.94 to 2.68 clearly indicated poor to moderate pollution status of the transitory water body in that area during monsoon in particular and throughout the year in general. So we opined there should be some control over the intense jute retting in the road side transitory water bodies for sustainable management of these manmade resources.

  6. Cálculo vectorial discreto para problemas elípticos sobre retículas uniformes

    OpenAIRE

    Santos Gutiérrez, Roberto

    2004-01-01

    Esta tesina se enmarca dentro de los trabajos en el campo del análisis numérico denominados genéricamente como "discretizaciones miméticas de la mecánica del medio continuo". La idea consiste en establecer un cálculo vectorial sobre retículas uniformes siguiendo el modelo del caso continuo, de forma que se plantean los problemas elípticos directamente en medios discretos. Esto conduce a obtener operadores discretos análogos al gradiente, divergencia y laplaciano, y se demuestra que estos oper...

  7. Carlos Germán Belli y Jorge Eduardo Eielson. Un ensayo de retórica comparada

    OpenAIRE

    Fernández-Cozman, Camilo

    2016-01-01

    Carlos Germán Belli y Jorge Eduardo Eielson son dos poetas peruanos. El autor intenta comparar la obra de ambos poetas sobre la base del análisis de las figuras literarias y de las técnicas argumentativas. Se trata de una óptica de Retórica Comparada. Los dos poetas realizan una crítica de las estructuras de poder hegemónico y ello se evidencia en dos poemas representativos: "La ración" y "Cappella Sistina".

  8. The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland.

    LENUS (Irish Health Repository)

    Darlow, John M

    2012-02-01

    The p.Gly691Ser variant of the RET protein, resulting from the \\'A\\' allele of the SNP rs1799939 in exon 11 of the RET gene, was recently found to be present in a high proportion of primary vesicoureteric reflux (pVUR) patients in Quebec. We have determined the genotype of this SNP in 221 unrelated index cases of pVUR from the Irish population, in 190 full siblings of 160 of the index cases, and in 592 healthy controls. We found no significant difference in genotype or allele frequencies in patients and controls, and no tendency of affected siblings to share the same genotype. We also found no difference in the presence of additional phenotypic features such as duplex kidneys, between patients with and without the \\'A\\' allele, and no difference in grade of reflux. We find no evidence of any influence of RET SNP rs1799939 on pVUR phenotype.

  9. Imperfect conformation of experimental and epidemiological data for frequency of RET/РТС gene rearrangements in papillary thyroid carcinoma for the Chernobyl accident

    Directory of Open Access Journals (Sweden)

    Ushenkova L.N.

    2013-12-01

    Full Text Available In an overview and analytical study of the epidemiological data on the frequency of RET/РТС gene rearrangements in sporadic and radiogenic (patients after radiotherapy, residents of contaminated after the Chernobyl disaster areas, victims after the atomic bombings, etc. carcinomas of the thyroid gland were examined. In general, the observed epidemiological laws were confirmed in radiobiology experiments by irradiation of different cultures of thyroid cells and ex vivo with the exception of Chernobyl cohorts. Induction of RET/РТС gene rearrangements by 131l exposure in children carcinomas of Chernobyl residents in mice did not observe too. It is concluded that the situation with the frequency of RET/РТС rearrangements in thyroid carcinoma in Chernobyl cohorts once again confirms the multifactorial nature of the induction and development of these tumors with a contribution of radiation and non-radiation factors (iodine deficiency and different stresses.

  10. A interação retórico-discursiva e suas múltiplas variáveis

    Directory of Open Access Journals (Sweden)

    Melliandro Mendes Galinari

    2012-11-01

    Full Text Available O presente artigo procura construir uma visão de conjunto acercados elementos envolvidos numa interação retórico-discursiva e suasrespectivas designações teórico-conceituais. A enunciação, vista sobuma ótica argumentativa e entendida como um processo comunicativoestabelecido entre uma instância de produção e outra de recepção dodiscurso, institui-se pela atuação de inúmeras variáveis. Comoexemplo, pode-se citar os próprios argumentos veiculados pelodiscurso (logos, ethos e pathos, as modalidades possíveis de adesão(teses, ações e emoções, o gênero discursivo/textual e uma série defatores situacionais (orador, auditório, elementos dóxicos,características sócio-históricas, etc.. O artigo, enfim, salienta aimportância de se levar em consideração, conjuntamente, taiselementos durante uma análise discursiva e procura aproximar aAnálise do Discurso da Retórica e da Sofística.

  11. El argumento de probabilidad (τὸ εἰκός en la retórica griega

    Directory of Open Access Journals (Sweden)

    Heiner Mercado Percia

    2015-01-01

    Full Text Available Los discursos de oradores como Isócrates, Gorgias, Antifonte, Lisias, entre otros, e igualmente, los dos tratados de retórica que conservamos de la segunda mitad del siglo IV a. C no sólo pueden considerarse como piezas literarias construidas con gran habilidad o como manuales con recetas para aplicar, sino como fuente de conceptos de interés para la filosofía. En este artículo se analiza uno de esos conceptos, τὸ εἰκός. Traducido normalmente como “probable” o “verosímil”, los eikóta son recursos argumentativos utilizados desde los orígenes de la práctica de arte retórico, sobre todo en espacios judiciales y, particularmente, fueron usados en aquellos litigios en los que la falta de testigos o testimonios hacía difícil inclinar favorablemente al juez. Pero también los eikóta ocuparon el centro de la crítica platónica por ser definidos como opuestos a la verdad (ἀλήθεια.

  12. Retóricas sobre el fraccionamiento del Partido Liberal en Medellín: 1958-1986

    Directory of Open Access Journals (Sweden)

    Juan Carlos Arenas Gómez

    2006-01-01

    Full Text Available Este artículo pretende poner en evidencia los motivos y analizar las razones esgrimidas por los miembros de los partidos cuando protagonizan un proceso de fragmentación. Aborda las retóricas o conjunto de argumentos utilizados, de manera individual o colectiva, por los miembros del partido liberal en Medellín para justificar los procesos de fragmentación y su desmonte durante el Frente Nacional. El examen se estructura a partir del vínculo entre dichas retóricas y las problemáticas que afrontan las organizaciones partidistas y los individuos que actúan dentro de ellas para mantenerse vigentes: en primer lugar, la aplicación de reglas del juego impuestas tanto por el sistema político como por las autoridades del partido; en segundo lugar, las tensiones surgidas tanto alrededor de la selección de candidatos a cargos públicos como del reparto burocrático; en tercer lugar, las elecciones y los resultados que los partidos obtienen en ellas.

  13. Craniopharyngiomas express embryonic stem cell markers (SOX2, OCT4, KLF4, and SOX9) as pituitary stem cells but do not coexpress RET/GFRA3 receptors.

    Science.gov (United States)

    Garcia-Lavandeira, Montserrat; Saez, Carmen; Diaz-Rodriguez, Esther; Perez-Romero, Sihara; Senra, Ana; Dieguez, Carlos; Japon, Miguel A; Alvarez, Clara V

    2012-01-01

    Adult stem cells maintain some markers expressed by embryonic stem cells and express other specific markers depending on the organ where they reside. Recently, stem/progenitor cells in the rodent and human pituitary have been characterized as expressing GFRA2/RET, PROP1, and stem cell markers such as SOX2 and OCT4 (GPS cells). Our objective was to detect other specific markers of the pituitary stem cells and to investigate whether craniopharyngiomas (CRF), a tumor potentially derived from Rathke's pouch remnants, express similar markers as normal pituitary stem cells. We conducted mRNA and Western blot studies in pituitary extracts, and immunohistochemistry and immunofluorescence on sections from normal rat and human pituitaries and 20 CRF (18 adamantinomatous and two papillary). Normal pituitary GPS stem cells localized in the marginal zone (MZ) express three key embryonic stem cell markers, SOX2, OCT4, and KLF4, in addition to SOX9 and PROP1 and β-catenin overexpression. They express the RET receptor and its GFRA2 coreceptor but also express the coreceptor GFRA3 that could be detected in the MZ of paraffin pituitary sections. CRF maintain the expression of SOX2, OCT4, KLF4, SOX9, and β-catenin. However, RET and GFRA3 expression was altered in CRF. In 25% (five of 20), both RET and GFRA3 were detected but not colocalized in the same cells. The other 75% (15 of 20) lose the expression of RET, GFRA3, or both proteins simultaneously. Human pituitary adult stem/progenitor cells (GPS) located in the MZ are characterized by expression of embryonic stem cell markers SOX2, OCT4, and KLF4 plus the specific pituitary embryonic factor PROP1 and the RET system. Redundancy in RET coreceptor expression (GFRA2 and GFRA3) suggest an important systematic function in their physiological behavior. CRF share the stem cell markers suggesting a common origin with GPS. However, the lack of expression of the RET/GFRA system could be related to the cell mislocation and deregulated

  14. Changes in Teachers' Beliefs and Classroom Practices Concerning Inquiry-Based Instruction Following a Year-Long RET-PLC Program

    Science.gov (United States)

    Miranda, Rommel J.; Damico, Julie B.

    2015-01-01

    This mixed-methods study examines how engaging science teachers in a summer Research Experiences for Teachers (RET) followed by an academic-year Professional Learning Community (PLC) focused on translating teacher research experiences to inquiry-based classroom lessons might facilitate changes in their beliefs and classroom practices regarding…

  15. Retórica de la historia. Un desafío al exceso de las nuevas tecnologías.

    Directory of Open Access Journals (Sweden)

    Pedro Javier Gómez Martínez

    2013-01-01

    Full Text Available El presente artículo se propone analizar un cierto tipo de figuras retóricas que se da en la obra audiovisual en el nivel de la propia historia, afectando al plano del contenido antes que al de la expresión. Hemos utilizado como caso de estudio la serie televisiva Pulseres vermelles ("Pulseras rojas", 2011, creada por Albert Espinosa y dirigida por Pau Freixas. El formato ha sido exportado más allá de nuestras fronteras. Steven Spielberg ha adquirido los derechos. Con un apreciable éxito de público y crítica, esta serie ha conquistado el corazón de numerosos espectadores a partir de temáticas emocionales de enorme compromiso, valiéndose además de un aparato retórico muy eficaz, parte del cual analizaremos aquí. Dichas circunstancias inducen a reflexionar sobre la importancia de la historia frente al discurso. Defendemos que la serie da prioridad a una retórica del contenido sobre la retórica de la expresión.

  16. Regulation of the Na,K-ATPase gamma-subunit FXYD2 by Runx1 and Ret signaling in normal and injured non-peptidergic nociceptive sensory neurons.

    Directory of Open Access Journals (Sweden)

    Stéphanie Ventéo

    Full Text Available Dorsal root ganglia (DRGs contain the cell bodies of sensory neurons which relay nociceptive, thermoceptive, mechanoceptive and proprioceptive information from peripheral tissues toward the central nervous system. These neurons establish constant communication with their targets which insures correct maturation and functioning of the somato-sensory nervous system. Interfering with this two-way communication leads to cellular, electrophysiological and molecular modifications that can eventually cause neuropathic conditions. In this study we reveal that FXYD2, which encodes the gamma-subunit of the Na,K-ATPase reported so far to be mainly expressed in the kidney, is induced in the mouse DRGs at postnatal stages where it is restricted specifically to the TrkB-expressing mechanoceptive and Ret-positive/IB4-binding non-peptidergic nociceptive neurons. In non-peptidergic nociceptors, we show that the transcription factor Runx1 controls FXYD2 expression during the maturation of the somato-sensory system, partly through regulation of the tyrosine kinase receptor Ret. Moreover, Ret signaling maintains FXYD2 expression in adults as demonstrated by the axotomy-induced down-regulation of the gene that can be reverted by in vivo delivery of GDNF family ligands. Altogether, these results establish FXYD2 as a specific marker of defined sensory neuron subtypes and a new target of the Ret signaling pathway during normal maturation of the non-peptidergic nociceptive neurons and after sciatic nerve injury.

  17. Cold DUst around NEarby Stars (DUNES). First results. A resolved exo-Kuiper belt around the solar-like star ζ2 Ret

    NARCIS (Netherlands)

    Eiroa, C.; Fedele, D.; Maldonado, J.; Gonzalez-Garcia, B. M.; Rodmann, J.; Heras, A. M.; Pilbratt, G. L.; Augereau, J. -Ch.; Mora, A.; Montesinos, B.; Ardila, D.; Bryden, G.; Liseau, R.; Stapelfeldt, K.; Launhardt, R.; Solano, E.; Bayo, A.; Absil, O.; Arevalo, M.; Barrado, D.; Beichmann, C.; Danchi, W.; del Burgo, C.; Ertel, S.; Fridlund, M.; Fukagawa, M.; Gutierrez, R.; Gruen, E.; Kamp, I.; Krivov, A.; Lebreton, J.; Loehne, T.; Lorente, R.; Marshall, J.; Martinez-Arnaiz, R.; Meeus, G.; Montes, D.; Morbidelli, A.; Mueller, S.; Mutschke, H.; Nakagawa, T.; Olofsson, G.; Ribas, I.; Roberge, A.; Sanz-Forcada, J.; Thebault, P.; White, G. J.; Wolf, S.; Walker, H.

    We present the first far-IR observations of the solar-type stars δ Pav, HR 8501, 51 Peg and ζ2 Ret, taken within the context of the DUNES Herschel open time key programme (OTKP). This project uses the PACS and SPIRE instruments with the objective of studying infrared excesses due to exo-Kuiper belts

  18. Who Are the Science Teachers That Seek Professional Development in Research Experience for Teachers (RET's)? Implications for Teacher Professional Development

    Science.gov (United States)

    Saka, Yavuz

    2013-01-01

    To address the need to better prepare teachers to enact science education reforms, the National Science Foundation has supported a Research Experience for Teachers (RET's) format for teacher professional development. In these experiences, teachers work closely with practicing scientists to engage in authentic scientific inquiry. Although…

  19. Influencia de la retórica musical de Los Beatles en los “jingles” y en la publicidad

    Directory of Open Access Journals (Sweden)

    Anton Alvarez Ruiz

    2013-01-01

    Full Text Available Este artículo explora de qué manera los jingles publicitarios se han visto influidos por la música de The Beatles. Para ello, utiliza una metodología descriptiva, comparativa y diacrónica. Tras estudiar brevemente la historia e importancia de los jingles, analizando algunas características de las canciones de The Beatles y su semejanza con los jingles publicitarios. En las canciones mencionadas se detallan las principales figuras retóricas encontradas, tanto en los textos como en las frases musicales y su influencia en la música publicitaria. También se estudia la única pieza publicitaria conocida realizada por The Beatles en su carrera. Por último, se analiza la posterior utilización de sus canciones y su imagen en varias campañas muy significadas, realizadas por la publicidad comercial en las últimas décadas.

  20. Effect of harvest time and field retting duration on the chemical composition, morphology and mechanical properties of hemp fibers

    DEFF Research Database (Denmark)

    Liu, Ming; Fernando, Dinesh; Daniel, Geoffrey

    2015-01-01

    tThe large variability in the mechanical properties of hemp fibers is an issue in relation to their use inhigh-grade composites. The objective of the present study was to determine the optimal growth stage forharvesting hemp fibers for use in composites and to evaluate the effect of field retting......% at seed maturity.A highly significant reduction in cellulose deposition in fiber cell walls was reflected by reduced fiberwall thickness with plant maturity and was related to the development and ripening of hemp seeds.A statistically significant increase in lignin deposition and a slight decrease...... in pectins in hemp fibercell walls were also noted with stem maturity. Microscopy observations and histochemical analyzescorroborated the results from the chemical analyzes and revealed variations in morphological aspectsand spatial micro-distributions of carbohydrates and lignin within the cell structure...

  1. Apelo ao consenso e impossibilidades da retórica: o caso do XI governo constitucional português

    OpenAIRE

    Lopo, Teresa Teixeira

    2016-01-01

    Resumo Neste artigo analisa-se como se formulou o apelo ao consenso no discurso pedagógico oficial do XI governo constitucional português, considerando os valores orientadores do processo de decisão e as crenças associadas ao impacto da política educativa e os seus resultados, em termos dos consensos alcançados na relação com os partidos políticos com representação parlamentar. Verificou-se ter sido uma construção retórica feliz do discurso, a desencadear, para além da concordância naturalmen...

  2. ExRET-Opt: An automated exergy/exergoeconomic simulation framework for building energy retrofit analysis and design optimisation

    International Nuclear Information System (INIS)

    García Kerdan, Iván; Raslan, Rokia; Ruyssevelt, Paul; Morillón Gálvez, David

    2017-01-01

    Highlights: • Development of a building retrofit-oriented exergoeconomic-based optimisation tool. • A new exergoeconomic cost-benefit indicator is developed for design comparison. • Thermodynamic and thermal comfort variables used as constraints and/or objectives. • Irreversibilities and exergetic cost for end-use processes are substantially reduced. • Robust methodology that should be pursued in everyday building retrofit practice. - Abstract: Energy simulation tools have a major role in the assessment of building energy retrofit (BER) measures. Exergoeconomic analysis and optimisation is a common practice in sectors such as the power generation and chemical processes, aiding engineers to obtain more energy-efficient and cost-effective energy systems designs. ExRET-Opt, a retrofit-oriented modular-based dynamic simulation framework has been developed by embedding a comprehensive exergy/exergoeconomic calculation method into a typical open-source building energy simulation tool (EnergyPlus). The aim of this paper is to show the decomposition of ExRET-Opt by presenting modules, submodules and subroutines used for the framework’s development as well as verify the outputs with existing research data. In addition, the possibility to perform multi-objective optimisation analysis based on genetic-algorithms combined with multi-criteria decision making methods was included within the simulation framework. This addition could potentiate BER design teams to perform quick exergy/exergoeconomic optimisation, in order to find opportunities for thermodynamic improvements along the building’s active and passive energy systems. The enhanced simulation framework is tested using a primary school building as a case study. Results demonstrate that the proposed simulation framework provide users with thermodynamic efficient and cost-effective designs, even under tight thermodynamic and economic constraints, suggesting its use in everyday BER practice.

  3. Leerse a sí mismo: hermenéutica, política y retórica en Thomas Hobbes

    Directory of Open Access Journals (Sweden)

    María José Rossi

    2014-11-01

    Full Text Available El reconocimiento del conflicto como realidad constitutiva de lo humano y la necesidad de un cierre que pasa por la fijación de la palabra justa encuentran en Hobbes su primera formulación. El pasaje de la instancia retórico-interpretativa a la axiomático-científica se da en Leviatan a través de tres momentos: introspectivo, contractual, estadual; su despliegue permite reconocer a la hermenéutica como resorte imprescindible para la implantación de un orden político fundado en la articulación entre ser (una antropología, decir (una retórica y actuar (una praxis. El intérprete resulta así un operador clave en el ajuste de las instancias natural y político-social

  4. O enigma do espelho. A retórica do silêncio nas Confissões de Agostinho de Hipona

    OpenAIRE

    Ricardo Reali Taurisano

    2014-01-01

    Três eram as principais tarefas da retórica clássica: instruir, deleitar e mover as almas à ação. Nas Confissões, contudo, percebe-se que elas são excedidas por um emprego nada convencional dos recursos da ars, de que rhetor Agostinho era mestre, a fim de perse-guir finalidade filosófica ulterior: dizer o indizível. Trata-se do uso duma palavra retórica que se quer circular, tautócrona, oblíqua, poética, oracular e paradoxal, em sua eloquência silenciosa. Numa primeira parte, pretende-se ress...

  5. Functioning Mediastinal Paraganglioma Associated with a Germline Mutation of von Hippel-Lindau Gene

    Directory of Open Access Journals (Sweden)

    Thibault Bahougne

    2018-05-01

    Full Text Available We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed tomography (SPECT/CT and 2-deoxy-2-[fluorine-18]fluoro-d-glucose (FDG positron emission tomography/computed tomography (PET/CT imaging showing isolated tracer-uptake by a 2 cm tumor close to the costovertebral angle of the third thoracic vertebra. Thoracic surgery led to normalization of normetanephrine levels. Histological findings were consistent with the presence of a paraganglioma. Mutations in SDHA, SDHB, SDHC, SDHD, RET, SDHAF2, TMEM127, MAX, NF1, FH, MDH2, and EPAS1 were absent, but a heterozygous missense mutation, c.311G > T, was found in exon 1 of the von Hippel-Lindau gene, VHL, resulting in a glycine to valine substitution in the VHL protein at position 104, p.Gly104Val. This same mutation was found in both the mother and the 17-year old sister in whom a small retinal hemangioblastoma was also found. We diagnose an unusual functional mediastinal paraganglioma in this young patient with a germline VHL gene mutation, a mutation previously described as inducing polycythemia and/or pheochromocytoma but not paraganglioma or retinal hemangioblastoma.

  6. Deletion mutations of bacteriophage

    International Nuclear Information System (INIS)

    Ryo, Yeikou

    1975-01-01

    Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

  7. ADOPTION OF RENEWABLE ENERGY TECHNOLOGIES (RET) IN TOURISM INDUSTRY- (A CASE OF OSOGBO AND OLORUNDA LOCAL GOVERNMENT AREAS IN OSUN STATE, NIGERIA)

    OpenAIRE

    Sonubi, O.K.; Ogunjimi, A. A.; Adeyemo, A. I.

    2017-01-01

    Hotel accommodation in Nigeria is comparatively more expensive than its neighbours in the sub region of West Africa. It is one of the most expensive globally. This is attributable to its operating environment. Any sustainable means of reducing running costs would be most welcome. A study on adoption of renewable energy technologies (RET) was conducted in Osogbo and Olorunda Local Government Areas of Osun State, Nigeria. Data were obtained from registered hotels in the two local government are...

  8. Retórica de influência social e negociação, segundo poder/reconhecimento na sociedade

    Directory of Open Access Journals (Sweden)

    Edson Alves de Souza Filho

    2014-04-01

    Full Text Available Estudamos o modo de negociar a pressão provocada por personagens considerados mais ou menos poderosos/reconhecidos na sociedade perante a identificação étnica do participante. Tratamos os fenômenos segundo as teorias de influência social ou retóricas de ação social. Trabalhamos com situações simuladas de pressão para recriar experiências possíveis de interação. Participaram 207 estudantes de ensino médio de escolas públicas estaduais, identificados como negros, brancos e morenos. Os resultados indicaram retóricas/ações como recusas, aceitação e não decisão às pressões. As retóricas/ações antecipadas foram de cordialidade, interesse próprio, hostilidade, interesse do outro. Os brancos tenderam a aceitar mais a pressão de personagens poderosos e os negros, em menor proporção, a recusar. Quanto aos personagens minoritários, houve aceitação da pressão nos grupos, indicando menor controvérsia. Discutimos os resultados nos marcos da dinâmica de relações entre grupos na sociedade.

  9. Associations between RET tagSNPs and their haplotypes and susceptibility, clinical severity, and thyroid function in patients with differentiated thyroid cancer.

    Directory of Open Access Journals (Sweden)

    Caiyun He

    Full Text Available It is unclear whether common genetic variants of the RET proto-oncogene contribute to disease susceptibility, clinical severity, and thyroid function in differentiated thyroid cancer (DTC.A total of 300 DTC patients and 252 healthy controls were enrolled in this study. Seven RET tagging single nucleotide polymorphisms were genotyped using the KASPar platform.Subgroup analysis showed that concomitant thyroid benign diseases were less likely to occur in DTC subjects with the rs1799939 AG or AG plus AA genotypes (odds ratio (OR = 1.93 and 1.88, P = 0.009 and 0.011, respectively. A rare haplotype, CGGATAA, was associated statistically with a reduced risk of DTC (OR = 0.18, P = 0.001. Concerning the aggressive features of DTC, higher level of N stage was more likely to occur in subjects carrying the wild-type genotypes at rs1800860 site (for dominant model: OR = 0.48, P = 0.008. Another rare haplotype, CAAGCGT, conferred increased risk for the occurrence of distant metastasis (OR = 7.57, P = 0.009. Notably, higher thyroid stimulating hormone levels and lower parathyroid hormone levels were found in patients with rs2075912, rs2565200, and rs2742240 heterozygotes and rare homozygotes; similar results were observed between PTH levels and rs1800858.This study provided useful information on RET variants that should be subjected to further study.

  10. Delta-He, Ret-He and a New Diagnostic Plot for Differential Diagnosis and Therapy Monitoring of Patients Suffering from Various Disease-Specific Types of Anemia.

    Science.gov (United States)

    Weimann, Andreas; Cremer, Malte; Hernáiz-Driever, Pablo; Zimmermann, Mathias

    2016-01-01

    The present study was aimed to prove the usefulness of a new diagnostic plot (Hema-Plot), illustrating the relationship between the hemoglobin content of reticulocytes (Ret-He) as a marker of functional iron deficiency and the difference between the reticulocyte and erythrocyte hemoglobin content (Delta-He) as a marker of an impaired hemoglobinization of newly formed reticulocytes occurring during inflammatory processes, to differentiate between various disease-specific types of anemia. A complete blood and reticulocyte count was performed on routine EDTA blood samples from 345 patients with and without various disease-specific types of anemia using the Sysmex XN-9000 hematology analyzer: blood healthy newborns (n = 23), blood healthy adults (n = 31), patients suffering from anemia of chronic disease (ACD) due to diverse oncological, chronic inflammatory, or autoimmune diseases (total n = 138) with (n = 65) and without therapy (n = 73), patients with thalassemia and/or hemoglobinopathy (n = 18), patients with iron deficiency anemia (IDA) (n = 35), patients with a combination of ACD and IDA (n = 17), as well as patients suffering from sepsis (total n = 83) with (n = 32) and without therapy (n = 51). The results for Ret-He, Delta-He, and C-reactive protein (CRP) were statistically compared (Mann-Whitney U Test) between the particular patient groups and the diagnostic plots were drawn. Delta-Hemoglobin showed a statistically significant difference between blood healthy newborns and blood healthy adults (p ≤ 0.05), while Ret-He and C-reactive protein did not. In addition, of all three biomarkers only Delta-He showed a statistically significant difference (p ≤ 0.05) between the ACD/IDA and IDA cohort. Delta-He, Ret-He, and CRP showed a statistically significant difference between patient cohorts with and without therapy suffering from ACD, ACD/IDA, and sepsis before and after medical therapy (p ≤ 0.05). The Hema-Plot illustrated the dynamic character of Ret-He and

  11. Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).

    Science.gov (United States)

    Jesić, Maja D; Tancić-Gajić, Milina; Jesić, Milos M; Zivaljević, Vladan; Sajić, Silvija; Vujović, Svetlana; Damjanović, Svetozar

    2014-01-01

    The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. This is a case report of 3-year-old boy from the MEN 2A family (the boy's father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is < 2 pg/ml (normal < 13 pg/ml), has normal serum calcium and parathyroid hormone levels and negative urinary catecholamines. Long-term follow-up of this patient is required to determine whether very early thyroidectomy improves the long-term outcome of PHPT. Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.

  12. Better plants through mutations

    International Nuclear Information System (INIS)

    1988-01-01

    This is a public relations film describing problems associated with the genetic improvement of crop plants through induced mutations. Mutations are the ultimate source of genetic variation in plants. Mutation induction is now established as a practical tool in plant breeding. The Joint FAO/IAEA Division and the IAEA's laboratory at Seibersdorf have supported research and practical implementation of mutation breeding of both seed propagated and vegetatively propagated plants. Plant biotechnology based on in vitro culture and recombinant DNA technology will make a further significant contribution to plant breeding

  13. Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.

    Science.gov (United States)

    Chan, Kwok Keung; Wong, Corinne Kung Yen; Lui, Vincent Chi Hang; Tam, Paul Kwong Hang; Sham, Mai Har

    2003-10-15

    SOX10 is a member of the SOX gene family related by homology to the high-mobility group (HMG) box region of the testis-determining gene SRY. Mutations of the transcription factor gene SOX10 lead to Waardenburg-Hirschsprung syndrome (Waardenburg-Shah syndrome, WS4) in humans. A number of SOX10 mutations have been identified in WS4 patients who suffer from different extents of intestinal aganglionosis, pigmentation, and hearing abnormalities. Some patients also exhibit signs of myelination deficiency in the central and peripheral nervous systems. Although the molecular bases for the wide range of symptoms displayed by the patients are still not clearly understood, a few target genes for SOX10 have been identified. We have analyzed the impact of six different SOX10 mutations on the activation of SOX10 target genes by yeast one-hybrid and mammalian cell transfection assays. To investigate the transactivation activities of the mutant proteins, three different SOX target binding sites were introduced into luciferase reporter gene constructs and examined in our series of transfection assays: consensus HMG domain protein binding sites; SOX10 binding sites identified in the RET promoter; and Sox10 binding sites identified in the P0 promoter. We found that the same mutation could have different transactivation activities when tested with different target binding sites and in different cell lines. The differential transactivation activities of the SOX10 mutants appeared to correlate with the intestinal and/or neurological symptoms presented in the patients. Among the six mutant SOX10 proteins tested, much reduced transactivation activities were observed when tested on the SOX10 binding sites from the RET promoter. Of the two similar mutations X467K and 1400del12, only the 1400del12 mutant protein exhibited an increase of transactivation through the P0 promoter. While the lack of normal SOX10 mediated activation of RET transcription may lead to intestinal aganglionosis

  14. Ciberlenguaje y principios de retórica clásica. Redes sociales: el caso Facebook

    Directory of Open Access Journals (Sweden)

    Inmaculada Berlanga

    2010-05-01

    Full Text Available Las Tecnologías de la Información y la Comunicación (TICs han propiciado cambios en las formas de comunicarnosy relacionarnos en la sociedad. Como concreción de esta nueva realidad destaca el espectacular auge alcanzadopor las redes sociales on line. El discurso oral se ve enriquecido con el lenguaje icónico y el audiovisual, privilegiadosen la cultura de hoy, por ello, esta investigación se pregunta si el discurso empleado en las redes sociales favorece elobjetivo planteado por estas plataformas tecnológicas al ayudar a compartir información. Se trata de un trabajo decampo que analiza el lenguaje, tanto de la interfaz de la red como el de los usuarios que participan en una de las redessociales más populares de hoy: Facebook. El estudio recorre las tres dimensiones del proceso comunicativo: sintáctica,semántica y pragmática y a través de pantallas se capturan otros elementos que configuran el contexto de este procesoque le confieren dinamismo y creatividad a la interacción. Se plantea la conveniencia de mirar a los personajes que alo largo de la historia han brillado en el arte de comunicar y recuperar algunos parámetros de la retórica clásica en loque atañe a la correcta construcción del discurso y a su veracidad. Finalmente, reclama planteamos algunos elementosteórico del ciberlenguaje y la necesidad de aprovechar la potencialidad que brindan las redes sociales en cuanto asu capacidad de inmediatez, intuitividad e interactividad, para humanizar la conversación con lenguajes atractivos,eficaces, cercanos y correctos.

  15. Mutation and premating isolation

    Science.gov (United States)

    Woodruff, R. C.; Thompson, J. N. Jr

    2002-01-01

    While premating isolation might be traceable to different genetic mechanisms in different species, evidence supports the idea that as few as one or two genes may often be sufficient to initiate isolation. Thus, new mutation can theoretically play a key role in the process. But it has long been thought that a new isolation mutation would fail, because there would be no other individuals for the isolation-mutation-carrier to mate with. We now realize that premeiotic mutations are very common and will yield a cluster of progeny carrying the same new mutant allele. In this paper, we discuss the evidence for genetically simple premating isolation barriers and the role that clusters of an isolation mutation may play in initiating allopatric, and even sympatric, species divisions.

  16. Análisis retórico-pragmático de la publicidad de cosméticos y productos de belleza en revistas femeninas

    OpenAIRE

    Jesús Alonso, Beatriz de

    2015-01-01

    Se trata de un análisis retórico-pragmático de gráficas publicitarias en revistas de moda conocidas como Vogue, Elle, Cosmopolitan, Telva y Glamour. Además, se hace un estudio de estereotipos y prototipos de la mujer en la actual sociedad y recoge una bibliografía relevante en torno a la materia. En el análisis se reflejan dos partes: una teórica y otra de imagen que explican los conceptos más relevantes del trabajo. Grado en Publicidad y Relaciones Públicas

  17. Sobre el sentimiento de vergüenza en la Ética Nicomaquea y la Retórica de Aristóteles

    OpenAIRE

    Gil Blasco, Marta

    2013-01-01

    En el siguiente estudio examinaremos el sentimiento de vergüenza desde dos planteamientos distintos formulados por Aristóteles: el de la Retórica, por una parte, y el de la Ética Nicomaquea, por otra, con la finalidad de dar cuenta de las diferencias, así como de los puntos de confluencia que existen entre ambos. Asimismo, consideraremos la intrincada conexión que existe entre la agencia humana y cuestiones tales como la voluntariedad, la responsabilidad y la culpa, así como el papel fundamen...

  18. Retórica vs. Comportamiento en las relaciones comerciales. Un análisis de las relaciones de Venezuela hacia Estados Unidos. Periodo 2007-2012

    OpenAIRE

    Osorio Quevedo, Alejandra

    2015-01-01

    El objetivo de esta monografía es analizar la incongruencia entre la retórica antiestadounidense empleada por Hugo Chávez durante su segundo mandato presidencial y las relaciones comerciales entre Venezuela y Estados Unidos, caracterizadas por la continua y considerable exportación de crudo venezolano. Por consiguiente, tras una descripción del discurso y de la política exterior del entonces mandatario, aunada a la exposición de estadísticas del comercio bilateral de crudo venezolano; se estu...

  19. Didáctica de la Literatura Comparada: Las figuras retóricas en la literatura y en otras semióticas

    Directory of Open Access Journals (Sweden)

    José Enrique Peláez Malagón

    2011-01-01

    Full Text Available Dentro del campo de la teoría literaria nos encontramos con las llamadas figuras retóricas, elemento imprescindible a la hora de abordar cualquier comentario de texto que quiera centrarse en lo estrictamente literario. Una forma de abordar este problema es utilizar la literatura comparada, esto es, buscar en la pintura, la música, el cine o la publicidad, referentes de los mismos recursos estilísticos que ayuden a comprender mejor y a asimilar toda una serie de conceptos, muchas de las veces un tanto oscuros para un alumno cuya lengua materna no es el español.

  20. Tópica de la responsabilidad. Reivindicación de la retórica para la ciudadanía moderna

    OpenAIRE

    José Luis Ramírez

    2003-01-01

    En este ensayo se parte del pensamiento de Aristóteles, para formular una tópica de la responsabilidad basada en la retórica, la lógica y la política. Tres espacios de vida en los cuales se debe desarrollar la personalidad del buen ciudadano, ése que practica el arte del correcto pensar, del bien hablar y del justo obrar. Una nueva ciudadanía social es impensable sin esos elementos que ya suponía el estagirista como necesarios e insustituibles para la concreción del...

  1. Ecletismo e retórica na filosofia brasileira: de Silvestre Pinheiro Ferreira (1769-1846) ao frei Francisco do Monte Alverne (1784-1858)

    OpenAIRE

    Duran, Maria Renata da Cruz

    2015-01-01

    Resumo Este artigo trata da filosofia eclética de Victor Cousin conforme seus repetidores brasileiros do início do século XIX: Silvestre Pinheiro Pereira e frei Francisco do Monte Alverne. O objetivo principal é estudar as relações entre o ecletismo e a retórica em prol da justificação dos limites, da dispersão e da superficialidade do debate filosófico local. Revisando as obras de Antônio Paim, Laerte Ramos de Carvalho e Maria Beatriz Nizza da Silva, destacou-se, especialmente, alguns pressu...

  2. Havde Friedman alligevel ret?

    DEFF Research Database (Denmark)

    Koch, Carsten Allan

    2005-01-01

    Den amerikanske økonom Milton Friedmans artikel om virksomheders sociale ansvar, The Social Responsibility of Business is to Increase Its Profit, er en af de mest kontroversielle bidrag til litteraturen om virksomheders ledelse og sociale ansvar. Men Friedmans artikel er, omend nok undervurderet,...... profit er til gavn for det økonomiske systems funktionsmåde, og at en uddeling af en ikketriviel andel af den vil svække denne rolle. Dette er analysens hovedresultat. Derudover præsenteres en række modifikationer til det ovenstående hovedresultat....

  3. Universelle rettigheder - oplysningstidens ret?

    DEFF Research Database (Denmark)

    Schaumburg-Müller, Sten

    2007-01-01

    Ideen om universelle rettigheder er ældre end Oplysningstiden, men i perioden blev universelle rettigheder gennemført i USA og Frankrig, ligesom perioden indeholdt kritik af forestillingen om universelle rettigheder.......Ideen om universelle rettigheder er ældre end Oplysningstiden, men i perioden blev universelle rettigheder gennemført i USA og Frankrig, ligesom perioden indeholdt kritik af forestillingen om universelle rettigheder....

  4. The prevalence and prognostic significance of KRAS mutation subtypes in lung adenocarcinomas from Chinese populations

    Directory of Open Access Journals (Sweden)

    Zheng DF

    2016-02-01

    Full Text Available Difan Zheng,1,2,* Rui Wang,1,2,* Yang Zhang,1,2 Yunjian Pan,1,2 Xinghua Cheng,3 Chao Cheng,1,2 Shanbo Zheng,1,2 Hang Li,1,2 Ranxia Gong,1,2 Yuan Li,2,4 Xuxia Shen,2,4 Yihua Sun,1,2 Haiquan Chen1–3,51Department of Thoracic Surgery, Fudan University Shanghai Cancer Center, 2Department of Oncology, Shanghai Medical College, Fudan University, 3Shanghai Chest Hospital, Shanghai Jiao Tong University, 4Department of Pathology, Fudan University Shanghai Cancer Center, 5Institutes of Biomedical Sciences, Fudan University, Shanghai, People’s Republic of China*These authors contributed equally to this workBackground: We performed this retrospective study to identify the prevalence of KRAS mutation in Chinese populations and make a comprehensive investigation of the clinicopathological features of KRAS mutation in these patients.Patients and methods: Patients from 2007 to 2013 diagnosed with primary lung adenocarcinoma who received a radical resection were examined for KRAS, EGFR, HER2, BRAF mutations, and ALK, RET, and ROS1 fusions. Clinicopathological features, including sex, age, tumor–lymph node–metastasis stage, tumor differentiation, smoking status, histological subtypes, and survival information were analyzed.Result: KRAS mutation was detected in 113 of 1,368 patients. Nine different subtypes of KRAS mutation were identified in codon 12, codon 13, and codon 61. KRAS mutation was more frequently found in male patients and former/current smoker patients. Tumors with KRAS mutation had poorer differentiation. Invasive mucinous adenocarcinoma predominant and solid predominant subtypes were more frequent in KRAS mutant patients. No statistical significance was found in relapse-free survival or overall survival between patients with KRAS mutation and patients with other mutations.Conclusion: In Chinese populations, we identified KRAS mutation in 8.3% (113/1,368 of the patients with lung adenocarcinoma. KRAS mutation defines a molecular subset of

  5. Phenotypic similarities and differences in patients with a p.Met112Ile mutation in SOX10.

    Science.gov (United States)

    Pingault, Veronique; Pierre-Louis, Laurence; Chaoui, Asma; Verloes, Alain; Sarrazin, Elisabeth; Brandberg, Goran; Bondurand, Nadege; Uldall, Peter; Manouvrier-Hanu, Sylvie

    2014-09-01

    Waardenburg syndrome (WS) is characterized by an association of pigmentation abnormalities and sensorineural hearing loss. Four types, defined on clinical grounds, have been delineated, but this phenotypic classification correlates imperfectly with known molecular anomalies. SOX10 mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and partial forms of the disease. The phenotype induced by SOX10 mutations is highly variable and, except for the neurological forms of the disease, no genotype-phenotype correlation has been characterized to date. There is no mutation hotspot in SOX10 and most cases are sporadic, making it particularly difficult to correlate the phenotypic and genetic variability. This study reports on three independent families with SOX10 mutations predicted to result in the same missense mutation at the protein level (p.Met112Ile), offering a rare opportunity to improve our understanding of the mechanisms underlying phenotypic variability. The pigmentation defects of these patients are very similar, and the neurological symptoms showed a somewhat similar evolution over time, indicating a potential partial genotype-phenotype correlation. However, variability in gastrointestinal symptoms suggests that other genetic factors contribute to the expression of these phenotypes. No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found. In addition, one of the patients has esophageal achalasia, which has rarely been described in WS. © 2014 Wiley Periodicals, Inc.

  6. Genetic Mutations in Cancer

    Science.gov (United States)

    Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

  7. AIP mutations and gigantism.

    Science.gov (United States)

    Rostomyan, Liliya; Potorac, Iulia; Beckers, Pablo; Daly, Adrian F; Beckers, Albert

    2017-06-01

    AIP mutations are rare in sporadic acromegaly but they are seen at a higher frequency among certain specific populations of pituitary adenoma patients (pituitary gigantism cases, familial isolated pituitary adenoma (FIPA) kindreds, and patients with macroadenomas who are diagnosed ≤30 years). AIP mutations are most prevalent in patients with pituitary gigantism (29% of this group were found to have mutations in AIP gene). These data support targeted genetic screening for AIP mutations/deletions in these groups of pituitary adenoma patients. Earlier diagnosis of AIP-related acromegaly-gigantism cases enables timely clinical evaluation and treatment, thereby improving outcomes in terms of excessive linear growth and acromegaly comorbidities. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  8. Mutations in SOX17 are Associated with Congenital Anomalies of the Kidney and the Urinary Tract

    Science.gov (United States)

    Gimelli, Stefania; Caridi, Gianluca; Beri, Silvana; McCracken, Kyle; Bocciardi, Renata; Zordan, Paola; Dagnino, Monica; Fiorio, Patrizia; Murer, Luisa; Benetti, Elisa; Zuffardi, Orsetta; Giorda, Roberto; Wells, James M; Gimelli, Giorgio; Ghiggeri, Gian Marco

    2010-01-01

    Congenital anomalies of the kidney and the urinary tract (CAKUT) represent a major source of morbidity and mortality in children. Several factors (PAX, SOX,WNT, RET, GDFN, and others) play critical roles during the differentiation process that leads to the formation of nephron epithelia. We have identified mutations in SOX17, an HMG-box transcription factor and Wnt signaling antagonist, in eight patients with CAKUT (seven vesico-ureteric reflux, one pelvic obstruction). One mutation, c.775T>A (p.Y259N), recurred in six patients. Four cases derived from two small families; renal scars with urinary infection represented the main symptom at presentation in all but two patients. Transfection studies indicated a 5–10-fold increase in the levels of the mutant protein relative to wild-type SOX17 in transfected kidney cells. Moreover we observed a corresponding increase in the ability of SOX17 p.Y259N to inhibit Wnt/β-catenin transcriptional activity, which is known to regulate multiple stages of kidney and urinary tract development. In conclusion, SOX17 p.Y259N mutation is recurrent in patients with CAKUT. Our data shows that this mutation correlates with an inappropriate accumulation of SOX17-p.Y259N protein and inhibition of the β-catenin/Wnt signaling pathway. These data indicate a role of SOX17 in human kidney and urinary tract development and implicate the SOX17–p.Y259N mutation as a causative factor in CAKUT. Hum Mutat 31:1352–1359, 2010. © 2010 Wiley-Liss, Inc. PMID:20960469

  9. Mutation breeding in peas

    Energy Technology Data Exchange (ETDEWEB)

    Jaranowski, J [Institute of Genetics and Plant Breeding, Academy of Agriculture, Poznan (Poland); Micke, A [Joint FAO/IAEA Division of Isotope and Radiation Applications of Atomic Energy for Food and Agricultural Development, International Atomic Energy Agency, Vienna (Austria)

    1985-02-01

    The pea as an ancient crop plant still today has wide uses and is an import source of food protein. It is also an important object for genetic studies and as such has been widely used in mutation induction experiments. However, in comparison with cereals this ancient crop plant (like several other grain legumes) has gained relatively little from advances in breeding. The review focuses on the prospects of genetic improvement of pea by induced mutations, discusses principles and gives methodological information. (author)

  10. Mutation breeding in peas

    International Nuclear Information System (INIS)

    Jaranowski, J.; Micke, A.

    1985-01-01

    The pea as an ancient crop plant still today has wide uses and is an import source of food protein. It is also an important object for genetic studies and as such has been widely used in mutation induction experiments. However, in comparison with cereals this ancient crop plant (like several other grain legumes) has gained relatively little from advances in breeding. The review focuses on the prospects of genetic improvement of pea by induced mutations, discusses principles and gives methodological information. (author)

  11. Caminhos retóricos e sorrisos incômodos : argumentação e humor em "A encalhada", de Ingrid Guimarães e Aloísio Abre

    OpenAIRE

    Ferraz, Luana

    2015-01-01

    Esta dissertação aborda a construção retórica da comicidade em peças teatrais. Para tanto, propõe a investigação das estratégias retóricas que enfatizam o efeito cômico no esquete “A encalhada”, de Ingrid Guimarães e Aloísio de Abreu – uma das nove cenas que compõem o espetáculo Cócegas (EMI, 2004), interpretado pelas atrizes brasileiras Heloísa Périssé e Ingrid Guimarães. O embasamento teórico para este trabalho é fornecido, principalmente, pelos tratados da Retórica Antiga...

  12. Tendencias de la Comunicación del Tercer Sector en la web 2.0: Análisis retórico de los tropos

    Directory of Open Access Journals (Sweden)

    Isidoro Arroyo Almaraz

    2013-08-01

    Full Text Available Los grandes éxitos de determinados mensajes a través de las redes sociales han hecho que este nuevo “medio” se vea como un modelo muy interesante para el Tercer Sector. En este artículo llevamos a cabo el análisis de aspectos formales y de contenido de las comunicaciones del Tercer Sector en las redes sociales y se determinan las tendencias que se repiten  destacando, entre otros,  el uso retórico de los tropos. Se percibe una tendencia hacia la similitud de los mensajes estudiados en sus aspectos narrativos, expresivos, persuasivos y retóricos. Los mensajes de carácter social distribuidos a través de las redes sociales muestran, en su construcción, perfiles uniformes y homogéneos en sus aspectos formales. Se concluye que utilizan las mismas piezas ya usadas en otros medios por lo que se infiere que no piensan en las bondades de las redes sociales para aprovechar los recursos específicos de éstas.  

  13. Molecular imaging with {sup 99m}Tc-MIBI and molecular testing for mutations in differentiating benign from malignant follicular neoplasm: a prospective comparison

    Energy Technology Data Exchange (ETDEWEB)

    Giovanella, L.; Treglia, G.; Ceriani, L. [Oncology Institute of Southern Switzerland, Department of Nuclear Medicine and Thyroid Centre, Bellinzona (Switzerland); Campenni, A. [Policlinico Universitario, Istituto di Medicina Nucleare, Messina (Italy); Verburg, F.A. [RWTH University Hospital Aachen, Department of Nuclear Medicine, Aachen (Germany); Trimboli, P. [Oncology Institute of Southern Switzerland, Department of Nuclear Medicine and Thyroid Centre, Bellinzona (Switzerland); Ospedale Israelitico, Sezione di Endocrinologia e Diabetologia, Roma (Italy); Bongiovanni, M. [Centre Hopitalier Universitaire Vaudouise, Institut de Pathologie, Lausanne (Switzerland)

    2016-06-15

    To compare mutation analysis of cytology specimens and {sup 99m}Tc-MIBI thyroid scintigraphy for differentiating benign from malignant thyroid nodules in patients with a cytological reading of follicular neoplasm. Patients ≥18 years of age with a solitary hypofunctioning thyroid nodule (≥10 mm), normal thyrotropin and calcitonin levels, and a cytological diagnosis of follicular neoplasm were prospectively enrolled. Mutation analysis and {sup 99m}Tc-MIBI scintigraphy were performed and patients were subsequently operated on to confirm or exclude a malignant lesion. Mutations for KRAS, HRAS and NRAS and for BRAF and translocations of PAX8/PPARγ, RET/PTC1 and RET/PTC3 were investigated. Static thyroid scintigraphic images were acquired 10 and 60 min after intravenous injection of 200 MBq of {sup 99m}Tc-MIBI and visually assessed. Additionally, the MIBI washout index was calculated using a semiquantitative method. In our series, 26 % of nodules with a follicular pattern on cytology were malignant with a prevalence of follicular carcinomas. {sup 99m}Tc-MIBI scintigraphy was found to be significantly more accurate (positive likelihood ratio 4.56 for visual assessment and 12.35 for semiquantitative assessment) than mutation analysis (positive likelihood ratio 1.74). A negative {sup 99m}Tc-MIBI scan reliably excluded malignancy. In patients with a thyroid nodule cytologically diagnosed as a follicular proliferation, semiquantitative analysis of {sup 99m}Tc-MIBI scintigraphy should be the preferred method for differentiating benign from malignant nodules. It is superior to molecular testing for the presence of differentiated thyroid cancer-associated mutations in fine-needle aspiration cytology sample material. (orig.)

  14. Molecular imaging with (99m)Tc-MIBI and molecular testing for mutations in differentiating benign from malignant follicular neoplasm: a prospective comparison.

    Science.gov (United States)

    Giovanella, L; Campenni, A; Treglia, G; Verburg, F A; Trimboli, P; Ceriani, L; Bongiovanni, M

    2016-06-01

    To compare mutation analysis of cytology specimens and (99m)Tc-MIBI thyroid scintigraphy for differentiating benign from malignant thyroid nodules in patients with a cytological reading of follicular neoplasm. Patients ≥18 years of age with a solitary hypofunctioning thyroid nodule (≥10 mm), normal thyrotropin and calcitonin levels, and a cytological diagnosis of follicular neoplasm were prospectively enrolled. Mutation analysis and (99m)Tc-MIBI scintigraphy were performed and patients were subsequently operated on to confirm or exclude a malignant lesion. Mutations for KRAS, HRAS and NRAS and for BRAF and translocations of PAX8/PPARγ, RET/PTC1 and RET/PTC3 were investigated. Static thyroid scintigraphic images were acquired 10 and 60 min after intravenous injection of 200 MBq of (99m)Tc-MIBI and visually assessed. Additionally, the MIBI washout index was calculated using a semiquantitative method. In our series, 26 % of nodules with a follicular pattern on cytology were malignant with a prevalence of follicular carcinomas. (99m)Tc-MIBI scintigraphy was found to be significantly more accurate (positive likelihood ratio 4.56 for visual assessment and 12.35 for semiquantitative assessment) than mutation analysis (positive likelihood ratio 1.74). A negative (99m)Tc-MIBI scan reliably excluded malignancy. In patients with a thyroid nodule cytologically diagnosed as a follicular proliferation, semiquantitative analysis of (99m)Tc-MIBI scintigraphy should be the preferred method for differentiating benign from malignant nodules. It is superior to molecular testing for the presence of differentiated thyroid cancer-associated mutations in fine-needle aspiration cytology sample material.

  15. Analysis of RET promoter CpG island methylation using methylation-specific PCR (MSP), pyrosequencing, and methylation-sensitive high-resolution melting (MS-HRM): impact on stage II colon cancer patient outcome.

    Science.gov (United States)

    Draht, Muriel X G; Smits, Kim M; Jooste, Valérie; Tournier, Benjamin; Vervoort, Martijn; Ramaekers, Chantal; Chapusot, Caroline; Weijenberg, Matty P; van Engeland, Manon; Melotte, Veerle

    2016-01-01

    Already since the 1990s, promoter CpG island methylation markers have been considered promising diagnostic, prognostic, and predictive cancer biomarkers. However, so far, only a limited number of DNA methylation markers have been introduced into clinical practice. One reason why the vast majority of methylation markers do not translate into clinical applications is lack of independent validation of methylation markers, often caused by differences in methylation analysis techniques. We recently described RET promoter CpG island methylation as a potential prognostic marker in stage II colorectal cancer (CRC) patients of two independent series. In the current study, we analyzed the RET promoter CpG island methylation of 241 stage II colon cancer patients by direct methylation-specific PCR (MSP), nested-MSP, pyrosequencing, and methylation-sensitive high-resolution melting (MS-HRM). All primers were designed as close as possible to the same genomic region. In order to investigate the effect of different DNA methylation assays on patient outcome, we assessed the clinical sensitivity and specificity as well as the association of RET methylation with overall survival for three and five years of follow-up. Using direct-MSP and nested-MSP, 12.0 % (25/209) and 29.6 % (71/240) of the patients showed RET promoter CpG island methylation. Methylation frequencies detected by pyrosequencing were related to the threshold for positivity that defined RET methylation. Methylation frequencies obtained by pyrosequencing (threshold for positivity at 20 %) and MS-HRM were 13.3 % (32/240) and 13.8 % (33/239), respectively. The pyrosequencing threshold for positivity of 20 % showed the best correlation with MS-HRM and direct-MSP results. Nested-MSP detected RET promoter CpG island methylation in deceased patients with a higher sensitivity (33.1 %) compared to direct-MSP (10.7 %), pyrosequencing (14.4 %), and MS-HRM (15.4 %). While RET methylation frequencies detected by nested

  16. Mutator activity in Schizophyllum commune

    Energy Technology Data Exchange (ETDEWEB)

    Shneyour, Y.; Koltin, Y. (Tel Aviv Univ. (Israel). Dept. of Microbiology)

    1983-01-01

    A strain with an elevated level of spontaneous mutations and an especially high rate of reversion at a specific locus (pab/sup -/) was identified. The mutator trait is recessive. UV sensitivity and the absence of a UV-specific endonucleolytic activity were associated with the enhancement of the mutation rate in mutator strains. The endonuclease associated with the regulation of the mutation rate also acted on single-stranded DNA. The molecular weight of this enzyme is about 38,000 daltons.

  17. The non-small cell lung cancer EGFR extracellular domain mutation, M277E, is oncogenic and drug-sensitive

    Directory of Open Access Journals (Sweden)

    Yu S

    2017-09-01

    Full Text Available Su Yu,1,2 Yang Zhang,1 Yunjian Pan,1 Chao Cheng,1,3 Yihua Sun,1,3 Haiquan Chen1–4 1Department of Thoracic Surgery, Fudan University Shanghai Cancer Center, Shanghai, China; 2Cancer Research Center, Fudan University Shanghai Cancer Center, Shanghai, China; 3Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China; 4Institutes of Biomedical Sciences, Fudan University, Shanghai, China Purpose: To identify novel oncogenic mutations in non-small cell lung cancer patient specimens that lack mutations in known targetable genes (“pan-negative” patients.Methods: Comprehensive mutational analyses were performed on 1,356 lung adenocarcinoma specimens. In this cohort of patients, common lung cancer oncogenic driver mutations were detected in the epidermal growth factor receptor (EGFR kinase domain, the human epidermal growth factor receptor 2 kinase domain, as well as the KRAS, BRAF, ALK, ROS1 and RET genes. A sub-cohort of pan-negative patient specimens was assayed for mutations in the EGFR extracellular domain (ECD. Additionally, EGFR mutant NIH-3T3 stable cell lines were constructed and assessed for protein content, anchorage-independent growth, and tumor formation in xenograft models to identify oncogenic mutations. BaF3 lymphocytes were also used to test sensitivities of the mutations to tyrosine kinase inhibitors.Results: In pan-negative lung adenocarcinoma cases, a novel oncogenic EGFR ECD mutation was identified (M277E. EGFR M277E mutations encoded oncoproteins that transformed NIH-3T3 cells to grow in the absence of exogenous epidermal growth factor. Transformation was further evidenced by anchorage-independent growth and tumor formation in immunocompromised xenograft mouse models. Finally, as seen in the canonical EGFR L858R mutation, the M277E mutation conferred sensitivity to both erlotinib and cetuximab in BaF3 cell lines and to erlotinib in xenograft models.Conclusion: Here, a new EGFR driver mutation, M277E

  18. Are There Mutator Polymerases?

    Directory of Open Access Journals (Sweden)

    Miguel Garcia-Diaz

    2003-01-01

    Full Text Available DNA polymerases are involved in different cellular events, including genome replication and DNA repair. In the last few years, a large number of novel DNA polymerases have been discovered, and the biochemical analysis of their properties has revealed a long list of intriguing features. Some of these polymerases have a very low fidelity and have been suggested to play mutator roles in different processes, like translesion synthesis or somatic hypermutation. The current view of these processes is reviewed, and the current understanding of DNA polymerases and their role as mutator enzymes is discussed.

  19. MUTATIONS IN CALMODULIN GENES

    DEFF Research Database (Denmark)

    2013-01-01

    The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The ...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

  20. A nova retórica do grande capital: a publicidade brasileira entre o neoliberalismo e a democratização

    Directory of Open Access Journals (Sweden)

    Maria Eduarda da Mota Rocha

    2008-09-01

    Full Text Available Resumo: O artigo analisa a emergência de uma nova retórica do grande capital, na publicidade brasileira contemporânea, a partir das relações entre três níveis: o do contexto político e econômico, o do campo publicitário e o dos anúncios. Estas relações permitem explicar as transformações dos valores fundamentais que informam o discurso publicitário, entendido como a retórica do capital, a quem cabe construir a boa vontade da “opinião pública” e converter parte desta em consumidores efetivos dos produtos e serviços. Por isso, os valores em torno dos quais se organizam os anúncios revelam as estratégias de legitimação do capital, no conteúdo que atribuem à imagem de uma “vida plena”. A nova retórica do grande capital é marcada por estratégias narrativas que têm como centro os “conceitos” de “qualidade de vida” e de “responsabilidade social”, em detrimento dos “conceitos” de “status” e “tecnologia” que marcaram a publicidade do período anterior. Abstract: The article analyzes the emergence of big capital new rhetoric in the contemporary Brazilian advertisements, based on the relationships among three levels: the economical and political context, the advertising field, and the advertisements themselves. These relationships allow us to explain the transformations of the basic values that inform the advertisement discourse, understood here as the rhetoric of the capital, that has the task of constructing the good will of public opinion and convert part of them into effective products and services consumers. Therefore, the values around which the ads organize reveal the legitimating strategies of the capital in the contents that attribute to the image of a full life. The new rhetoric of the big capital is marked by narrative strategies that have at the center the concepts of quality of life and social responsibility, in detriment of the concepts of status and technology that have marked the

  1. Differential expression of galectin-3, CK19, HBME1, and Ret oncoprotein in the diagnosis of thyroid neoplasms by fine needle aspiration biopsy

    Directory of Open Access Journals (Sweden)

    Saleh Husain

    2009-01-01

    Full Text Available Background: Fine needle aspiration biopsy (FNAB is a common and excellent procedure for the evaluation of thyroid lesions that require surgical resection. At times, the FNAB diagnosis can be difficult, particularly of follicular-patterned lesions. Previous studies have shown that some immunohistochemical (IHC markers may be helpful in establishing more accurate diagnosis. In this study, our goal was to evaluate four of the recently investigated markers in differentiating benign from malignant thyroid nodules on FNABs. Materials and Methods: We performed IHC staining of galectin-3, Ret oncoprotein (Ret, HBME-1, and cytokeratin 19 (CK19, on cell block sections of thyroid FNAB cases that had corresponding surgical resections. They included 44 benign lesions (37 hyperplastic or cellular nodules, HN; and 7 follicular adenomas, FA and 27 malignant tumors (6 follicular carcinoma, FC; 19 classic papillary carcinoma, PTC; and 2 follicular variant of papillary carcinoma, FVPC. The stains were done according to the standard avidin-biotin-peroxidase method. Results: Statistical analysis showed that immunoexpression was significantly higher in the malignant group for all four markers. The sensitivity for positive expression for all benign lesions versus malignant tumors was as follows: 10/44 (22.7% versus 25/27 (92.6% for galectin-3; 14/44 (31.8% versus 23/27 (85% for Ret; 12/44 (27.3% versus 24/27 (88.8% for HBME-1; and 13/44 (29.5% versus 23/27 (85% for CK19. The sensitivity and specificity was highest for galectin-3 (92.6% and 77.3%, respectively followed by HMBE-1 (88.9% and 72.7%, respectively. When combining the markers′ expressions, the panel of galectin-3 + HBME-1 showed the highest sensitivity and specificity (90.7% and 75%, respectively, but this was, however, lower than galectin-3 alone (92.3% and 77.3%, respectively. Conclusion: We conclude that galectin-3 is the best single marker in differentiating benign from malignant thyroid lesions with

  2. Preliminary studies on DNA retardation by MutS applied to the detection of point mutations in clinical samples

    International Nuclear Information System (INIS)

    Stanislawska-Sachadyn, Anna; Paszko, Zygmunt; Kluska, Anna; Skasko, Elzibieta; Sromek, Maria; Balabas, Aneta; Janiec-Jankowska, Aneta; Wisniewska, Alicja; Kur, Jozef; Sachadyn, Pawel

    2005-01-01

    MutS ability to bind DNA mismatches was applied to the detection of point mutations in PCR products. MutS recognized mismatches from single up to five nucleotides and retarded the electrophoretic migration of mismatched DNA. The electrophoretic detection of insertions/deletions above three nucleotides is also possible without MutS, thanks to the DNA mobility shift caused by the presence of large insertion/deletion loops in the heteroduplex DNA. Thus, the method enables the search for a broad range of mutations: from single up to several nucleotides. The mobility shift assays were carried out in polyacrylamide gels stained with SYBR-Gold. One assay required 50-200 ng of PCR product and 1-3 μg of Thermus thermophilus his 6 -MutS protein. The advantages of this approach are: the small amounts of DNA required for the examination, simple and fast staining, no demand for PCR product purification, no labelling and radioisotopes required. The method was tested in the detection of cancer predisposing mutations in RET, hMSH2, hMLH1, BRCA1, BRCA2 and NBS1 genes. The approach appears to be promising in screening for unknown point mutations

  3. Mutation, somatic mutation and diseases of man

    International Nuclear Information System (INIS)

    Burnet, F.M.

    1976-01-01

    The relevance of the intrinsic mutagenesis for the evolution process, genetic diseases and the process of aging is exemplified. The fundamental reaction is the function of the DNA and the DNA-enzymes like the DNA-polymerases in replication, repair, and transcription. These defects are responsible for the mutation frequency and the genetic drift in the evolution process. They cause genetic diseases like Xeroderma pigmentosum which is described here in detail. The accumulation of structural and functional mistakes leads to diseases of old age, for example to autoimmune diseases and immune suppression. There is a proportionality between the duration of life and the frequency of mistakes in the enzymatic repair system. No possibility of prophylaxis or therapy is seen. Methods for prognosis could be developed. (AJ) [de

  4. Specifik mutation med nålestiksoperation

    DEFF Research Database (Denmark)

    Holme, Inger; Wendt, Toni; Brinch-Pedersen, Henrik

    2014-01-01

    Mutanter af byg er vigtige i forskningen og benyttes også, når der forædles nye sorter til dyrkning. Hidtil har det kun været muligt at inducere mutationer tilfældige steder i genomet. Med helt ny teknologi benyttes proteiner med betegnelsen TALENs til at inducere mutationer i helt specifikke...

  5. Mutations and chromosomal aberrations

    International Nuclear Information System (INIS)

    Kihlman, B.A.

    1977-01-01

    The genetic changes of mutations and chromosomal aberrations are discussed. The consequences of both depend not only on the type of genetic change produced but also on the type of cell that is affected and on the development stage of the organism. (C.F.)

  6. Mutations in GABRB3

    DEFF Research Database (Denmark)

    Møller, Rikke S; Wuttke, Thomas V; Helbig, Ingo

    2017-01-01

    OBJECTIVE: To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS: We performed massive parallel sequencing ...

  7. Kin Selection - Mutation Balance

    DEFF Research Database (Denmark)

    Dyken, J. David Van; Linksvayer, Timothy Arnold; Wade, Michael J.

    2011-01-01

    selection-mutation balance, which provides an evolutionary null hypothesis for the statics and dynamics of cheating. When social interactions have linear fitness effects and Hamilton´s rule is satisfied, selection is never strong enough to eliminate recurrent cheater mutants from a population, but cheater...

  8. Risøs årsrapport 2005. Opfølgning på planerne for året 2005

    DEFF Research Database (Denmark)

    2006-01-01

    Risøs årsrapport 2005 er en opfølgning på planerne for Risøs virksomhed i 2005. Risøs bestyrelse skal som led i resultatkontrakten med Ministeriet for Videnskab, Teknologi og Udvikling aflægge årlige rapporter om opfyldelsen af de fastlagte resultatkrav.Nærværende rapport indeholder data til brug...... for denne vurdering. Derudover gives et billede af Risøs økonomi og faglige aktiviteter, der relateres til Risøs mission, vision og strategi. Rapportering af årets resultater er baseret på det interneplanlægnings- og opfølgningssystem, og rapporten er opbygget efter Økonomistyrelsens nye koncept...... for årsrapporter....

  9. Le système de sûreté lyonnais selon les arrêtés du 6 décembre 1833

    Directory of Open Access Journals (Sweden)

    Amos Frappa

    2010-01-01

    Full Text Available Le 6 décembre 1833, le maire de Lyon Gabriel Prunelle adopte trois arrêtés instaurant un service de sûreté. Il s’agit de la seconde ville française à se doter d’un groupe de policiers spécialisé dans la recherche et l’arrestation des malfaiteurs. Un an plus tôt, le préfet de police Gisquet met à profit l’expérience de «  la Rousse », surnom donné à la brigade de l’ancien bagnard Vidocq, pour équiper la capitale d’une telle structure. Le premier des textes du 6 décembre 1833 fixe les attributi...

  10. Detection of PAX8/PPARG and RET/PTC Rearrangements Is Feasible in Routine Air-Dried Fine Needle Aspiration Smears

    DEFF Research Database (Denmark)

    Ferraz, Carolina; Rehfeld, Christian; Krogdahl, Annelise

    2012-01-01

    Background: The diagnostic limitations of fine needle aspiration (FNA), like the indeterminate category, can be partially overcome by molecular analysis. As PAX8/PPARG and RET/PTC rearrangements have been detected in follicular thyroid carcinomas (FTCs) and papillary thyroid carcinomas (PTCs......), their detection in FNA smears could improve the FNA diagnosis. To date, these rearrangements have never been analyzed in routine air-dried FNA smears, but only in frozen tissue, formalin-fixed paraffin-embedded (FFPE) tissue, and in fresh FNA material. Fixed routine air-dried FNA samples have hitherto been judged...... as generally not suitable for testing these rearrangements in a clinical setting. Therefore, the objective of the present study was to investigate the feasibility of extracting RNA from routine air-dried FNA smears for the detection of these rearrangements with real-time polymerase chain reaction (RT...

  11. The history of NATO TNF policy: The role of studies, analysis and exercises conference proceedings. Volume 3: Papers by Gen. Robert C. Richardson III (Ret.)

    Energy Technology Data Exchange (ETDEWEB)

    Rinne, R.L. [ed.

    1994-02-01

    This conference was organized to study and analyze the role of simulation, analysis, modeling, and exercises in the history of NATO policy. The premise was not that the results of past studies will apply to future policy, but rather that understanding what influenced the decision process-and how-would be of value. The structure of the conference was built around discussion panels. The panels were augmented by a series of papers and presentations focusing on particular TNF events, issues, studies, or exercises. The conference proceedings consist of three volumes. Volume 1 contains the conference introduction, agenda, biographical sketches of principal participants, and analytical summary of the presentations and discussion panels. Volume 2 contains a short introduction and the papers and presentations from the conference. This volume contains selected papers by Brig. Gen. Robert C. Richardson III (Ret.).

  12. Mutations in galactosemia

    Energy Technology Data Exchange (ETDEWEB)

    Reichardt, J.K.V. [Univ. of Southern California School of Medicine, Los Angeles, CA (United States)

    1995-10-01

    This Letter raises four issues concerning two papers on galactosemia published in the March 1995 of the Journal. First, table 2 in the paper by Elsas et al. incorrectly attributes seven galactose-l-phosphate uridyl transferase (GALT) mutations (S135L, L195P, K285N, N314D, R333W, R333G, and K334R). The table also fails to mention that others have reported the same two findings attributed to {open_quotes}Leslie et al.; Elsas et al. and in press{close_quotes} and {open_quotes}Leslie et al.; Elsas et al.{close_quotes} The first finding on the prevalence of the Q188R galactosemia mutation in the G/G Caucasian population has also been described by Ng et al., and the second finding on the correlation of the N314D GALT mutation with the Duarte variant was reported by Lin et al. Second, Elsas et al. suggest that the E203K and N314D mutations may {open_quotes}produce intra-allelic complementation when in cis{close_quotes}. This speculation is supported by the activity data of individual III-2 but is inconsistent with the activities of three other individuals I-1, II-1, and III-1 of the same pedigree. The GALT activity measured in these three individuals suggests a dominant negative effect of E203K in E203K-N314D chromosomes, since they all have less than normal activity. Thus, the preponderance of the data in this paper is at odds with the authors speculation. It is worth recalling that Lin et al. also identified four N314D GALT mutations on 95 galactosemic chromosomes examined. A similar situation also appears to be the case in proband III-1 (with genotype E203K-N314D/IVSC) in the Elsas et al. paper. 9 refs.

  13. Mutation breeding newsletter. No. 45

    International Nuclear Information System (INIS)

    2001-07-01

    This issue of the Mutation Breeding newsletter contains 39 articles dealing with radiation induced mutations and chemical mutagenesis techniques in plant breeding programs with the aims of improving crop productivity and disease resistance as well as exploring genetic variabilities

  14. Mutation breeding newsletter. No. 33

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1989-01-01

    This issue of the newsletter reports a number of research news and research abstracts on application of radiation induced mutation techniques to increase mutagenesis and mutation frequency in plant breeding projects.

  15. Mutation breeding newsletter. No. 33

    International Nuclear Information System (INIS)

    1989-01-01

    This issue of the newsletter reports a number of research news and research abstracts on application of radiation induced mutation techniques to increase mutagenesis and mutation frequency in plant breeding projects

  16. La articulación retórico-estilística de las perífrasis verbales de infinitivo y gerundio en "Pedro Páramo"

    Directory of Open Access Journals (Sweden)

    Adriana Ávila-Figueroa

    2012-07-01

    Full Text Available ResumenEl tema de las perífrasis verbales es uno de los más complejos y debatidos en la tradición gramatical. Las descripciones propuestas en las gramáticas y estudios dedicados al tema de las perífrasis verbales explican principalmente tres valores: temporal, aspectual y modal. Gómez Torregop señala que entre estos valores es posible añadir el estilístico. El propósito de este trabajo es describir el uso de las perífrasis verbales de infinitivo y gerundio en la novela mexicana "Pedro Páramo" de Juan Rulfo y su articulación retórico-estilística.Palabras clave: figuras retóricas, perífrasis verbales, estilística, infinitivo y gerundio.AbstractThe verbal periphrasis is one of the more complex and debated topics in the grammatical tradition. The current descriptions proposed by the main reference grammars as well as by most of the works dedicated to the verbal periphrasis explain three main values: temporal, aspectual and modal. Gómez Torrego points that between these values is possible to add the stylistic one. The purpose of this article is to describe the use of the infinite and gerundive verbal periphrasis in the mexican novel "Pedro Páramo" by Juan Rulfo and its rhetorical and stylistic articulation.Keywords: rhetorical figures, verbal periphrasis, stylistics, infinitive and gerundive.

  17. Book Review: Zarzo, E. (2016, Memoria Retórica y Experiencia Estética. Retórica, Estética y Educación. Madrid: Dykinson

    Directory of Open Access Journals (Sweden)

    Davide Mombelli

    2016-10-01

    Full Text Available Memoria retórica y experiencia estética. Retórica, Estética y Educación, recently published by Dykinson, is a fundamental body of research on rhetoric memory and aesthetic experience, two objects of study which, although having generated much literature separately, have not been considered in their reciprocity until now. The author, Esther Zarzo, who earned her Ph.D. in Philosophy, has published several investigations of both a theoretical and practical nature concerning the treatment and development of the faculty of memory. From among her theoretical works, standouts include “Historia, memoria y tiempo” (2015a, which addresses the relationship between memory and history from a metaphysical approach in order to explain some of the mnemonic aporiae underlying historical knowledge; and from among her work of a practical nature standouts include, “La mirada topológica” (2013, focused on the media of today's exploitation of the image, and, "The art of memory in the Digital Age"(2015b, in which different implementation strategies of the classical rhetorical techniques found in Virtual Learning Environments are considered. Regarding the investigation’s second object, the aesthetic experience, it is important to highlight the author’s editing work carried out in collaboration with Prof. Pedro Aullón de Haro of the fundamental work by Alfonso Reyes, El Deslinde(2014, whose concept of literary experience is crucial to understanding the text at hand. As Esther Zarzo explains in the introduction, the choice of such objects of study is justified by the need to analyse the epistemological consequences of the revolution produced by electronic media that enable the external storage and transmission of information, since any modifications to the way of organising and accessing content substantially affects the individual and collective experience, both in regard to knowledge and to self-knowledge, along with the experience of time. According

  18. Mutation breeding in pepper

    Energy Technology Data Exchange (ETDEWEB)

    Daskalov, S [Plant Breeding Unit, Joint FAO/IAEA Division of Isotope and Radiation Applications of Atomic Energy for Food and Agricultural Development, Seibersdorf Laboratory, International Atomic Energy Agency, Vienna (Austria)

    1986-03-01

    Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F{sub 1} hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M{sub 1} effects, handling the treated material in M{sub 1}, M{sub 2} and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

  19. Mutation breeding in pepper

    International Nuclear Information System (INIS)

    Daskalov, S.

    1986-01-01

    Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F 1 hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M 1 effects, handling the treated material in M 1 , M 2 and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

  20. Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634

    Directory of Open Access Journals (Sweden)

    Ješić Maja D.

    2014-01-01

    Full Text Available Introduction. The multiple endocrine neoplasia type 2A (MEN 2A syndrome, comprising medullary thyroid carcinoma (MTC, pheochromocytoma and primary hyperparathyroidism (PHPT is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas. Case Outline. This is a case report of 3-year-old boy from the MEN 2A family (the boy’s father and grandmother and paternal aunt in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information. A boy had no thyromegaly, thyroidal irregularities or lymphadenopathy and no abnormality on the neck ultrasound examination. The pathology finding of thyroid gland was negative for MTC. Two years after total thyroidectomy, 5-year-old boy is healthy with permanent thyroxine replacement. His serum calcitonin level is <2 pg/ml (normal <13 pg/ml, has normal serum calcium and parathyroid hormone levels and negative urinary catecholamines. Long-term follow-up of this patient is required to determine whether very early thyroidectomy improves the long-term outcome of PHPT. Conclusion. Children with familial antecedents of MEN 2A should be genetically studied for the purpose of determining the risk of MTC and assessing the possibilities of making prophylactic thyroidectomy before the age of 5 years.

  1. Mutated hilltop inflation revisited

    Science.gov (United States)

    Pal, Barun Kumar

    2018-05-01

    In this work we re-investigate pros and cons of mutated hilltop inflation. Applying Hamilton-Jacobi formalism we solve inflationary dynamics and find that inflation goes on along the {W}_{-1} branch of the Lambert function. Depending on the model parameter mutated hilltop model renders two types of inflationary solutions: one corresponds to small inflaton excursion during observable inflation and the other describes large field inflation. The inflationary observables from curvature perturbation are in tune with the current data for a wide range of the model parameter. The small field branch predicts negligible amount of tensor to scalar ratio r˜ O(10^{-4}), while the large field sector is capable of generating high amplitude for tensor perturbations, r˜ O(10^{-1}). Also, the spectral index is almost independent of the model parameter along with a very small negative amount of scalar running. Finally we find that the mutated hilltop inflation closely resembles the α -attractor class of inflationary models in the limit of α φ ≫ 1.

  2. Mutation breeding in jute

    International Nuclear Information System (INIS)

    Joshua, D.C.

    1980-01-01

    Mutagenic studies in jute in general dealt with the morphological abnormalities of the M 1 generation in great detail. Of late, induction of a wide spectrum of viable mutations have been reported in different varieties of both the species. Mutations affecting several traits of agronomic importance such as, plant height, time of flowering, fibre yield and quality, resistance to pests and diseases are also available. Cytological analysis of a large collection of induced mutants resulted in the isolation of seven trisomics in an olitorius variety. Several anatomical parameters which are the components of fibre yield, have also received attention. Some mutants with completely altered morphology were used for interpreting the evolution of leaf shape in Tiliaceas and related families. A capsularis variety developed using mutation breeding technique has been released for cultivation. Several others, including derivatives of inter-mutant hybridization have been found to perform well at different locations in the All India Coordinated Trials. Presently, chemical mutagenesis and induction of mutants of physiological significance are receiving considerable attention. The induced variability is being used in genetic and linkage studies. (author)

  3. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).

    Science.gov (United States)

    Hofstra, R M; Osinga, J; Tan-Sindhunata, G; Wu, Y; Kamsteeg, E J; Stulp, R P; van Ravenswaaij-Arts, C; Majoor-Krakauer, D; Angrist, M; Chakravarti, A; Meijers, C; Buys, C H

    1996-04-01

    Hirschsprung disease (HSCR) or colonic aganglionosis is a congenital disorder characterized by an absence of intramural ganglia along variable lengths of the colon resulting in intestinal obstruction. The incidence of HSCR is 1 in 5,000 live births. Mutations in the RET gene, which codes for a receptor tyrosine kinase, and in EDNRB which codes for the endothelin-B receptor, have been shown to be associated with HSCR in humans. The lethal-spotted mouse which has pigment abnormalities, but also colonic aganglionosis, carries a mutation in the gene coding for endothelin 3 (Edn3), the ligand for the receptor protein encoded by EDNRB. Here, we describe a mutation of the human gene for endothelin 3 (EDN3), homozygously present in a patient with a combined Waardenburg syndrome type 2 (WS2) and HSCR phenotype (Shah-Waardenburg syndrome). The mutation, Cys159Phe, in exon 3 in the ET-3 like domain of EDN3, presumably affects the proteolytic processing of the preproendothelin to the mature peptide EDN3. The patient's parents were first cousins. A previous child in this family had been diagnosed with a similar combination of HSCR, depigmentation and deafness. Depigmentation and deafness were present in other relatives. Moreover, we present a further indication for the involvement of EDNRB in HSCR by reporting a novel mutation detected in one of 40 unselected HSCR patients.

  4. Calreticulin Mutations in Myeloproliferative Neoplasms

    Directory of Open Access Journals (Sweden)

    Noa Lavi

    2014-10-01

    Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

  5. Mutation breeding in chickpea

    International Nuclear Information System (INIS)

    2009-01-01

    Chickpea is an important food legume in Turkey. Turkey is one of the most important gene centers in the world for legumes. The most widely known characteristic of chickpea is that it is an important vegetable protein source used in human and animal nutrition. However, the dry grains of chickpea, has 2-3 times more protein than our traditional food of wheat. In addition, cheakpea is also energy source because of its high carbohydrate content. It is very rich in some vitamin and mineral basis. In the plant breeding, mutation induction has become an effective way of supplementing existing germplasm and improving cultivars. Many successful examples of mutation induction have proved that mutation breeding is an effective and important approach to food legume improvement. The induced mutation technique in chickpea has proved successful and good results have been attained. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoey Nuclear Research and Training Center in 1994. The purpose of the study was to obtain high yielding chickpea mutants with large seeds, good cooking quality and high protein content. Beside this some characters such as higher adaptation ability, tolerant to cold and drought, increased machinery harvest type, higher yield, resistant to diseases especially to antracnose and pest were investigated too. Parents varieties were ILC-482, AK-7114 and AKCIN-91 (9 % seed moisture content and germination percentage 98 %) in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350, 400, 500 ve 600 Gy for greenhouse experiments and 0 (control), 50, 100, 150, 200, 250, 300, 350 ve 400 Gy for field experiments, respectively. One thousand seeds for per treatment were sown in the field for the M 1 . At maturity, 3500 single plants were harvested and 20 seeds were taken from each M 1 plant and planted in the following season. During plant growth

  6. Induced mutations in citrus

    International Nuclear Information System (INIS)

    Spiegel-Roy, P.; Vardi, Aliza

    1990-01-01

    Full text: Parthenocarpic tendency is an important prerequisite for successful induction of seedlessness in breeding and especially in mutation breeding. A gene for asynapsis and accompanying seedless fruit has been found by us in inbred progeny of cv. 'Wilking'. Using budwood irradiation by gamma rays, seedless mutants of 'Eureka' and 'Villafranca' lemon (original clone of the latter has 25 seeds) and 'Minneola' tangelo have been obtained. Ovule sterility of the three mutants is nearly complete, with some pollen fertility still remaining. A semi-compact mutant of Shamouti orange has been obtained by irradiation. A programme for inducing seedlessness in easy peeling citrus varieties and selections has been initiated. (author)

  7. Induced skeletal mutations

    International Nuclear Information System (INIS)

    Selby, P.B.

    1979-01-01

    This paper describes a large-scale experiment that, by means of breeding tests, confirmed that many dominant skeletal mutations are induced by large-dose radiation exposure. The author also discusses: (1) the major advantages and disadvantages of the skeletal method in improving estimates of genetic hazard to man; (2) future uses of the skeletal method; (3) direct estimation of risk beyond the first generation using the skeletal method; and (4) the possibility of using the skeletal method as a quick and easy screen for chemical mutagens

  8. A retórica da reeleição: mapeando os discursos dos Programas Eleitorais (HGPE em 1998 e 2006

    Directory of Open Access Journals (Sweden)

    Mônica Machado

    2009-06-01

    Full Text Available O artigo avalia a produção dos discursos do HGPE na TV dos partidos de dois candidatos à reeleição para a Presidência da República: Fernando Henrique (PSDB em 1998 e Luiz Inácio Lula da Silva (PT em 2006. É objeto de reflexão indagar até que ponto as campanhas orientadas para reconduzir o mandatário ao poder têm estruturas estratégicas discursivas similares nos dois contextos, apesar de inscrições partidárias e orientações políticas distintas. Como metodologia, utiliza procedimentos para entender os elementos retóricos de cada campanha e apreender as estratégias de persuasão. Nota-se que o estímulo ao voto retrospectivo, o discurso a favor da continuidade da gestão administrativa, o lugar de autoridade do candidato-Presidente e a ênfase em discurso programático de cunho econômico são enunciados proferidos pelos mandatários nos dois contextos. É lícito supor, então, que a retórica da reeleição favorece posições privilegiadas na disputa.The article evaluates the production of the speeches of electoral advertising in TV of the two presidential candidates: Fernando Henrique (PSDB in 1998 and Luis Inácio Lula of Silva (PT in 2006. Therefore, the point is to investigate to what extent the campaigns show discursive strategic structures - similar in the two contexts - in spite of supporting registrations and different political orientations. The methodology uses procedures to understand the rhetorical elements of each campaign and persuasion strategies. In both campaigns one observes the incentive to the retrospective vote, the speech in favor of the continuity of the administration, the place of the candidate-president's authority, the emphasis in speech of economical issues. One can suggest that the rhetoric of the reelection favors positions in the electoral dispute.

  9. Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan

    Science.gov (United States)

    Sigurdson, Alice J.; Land, Charles E.; Bhatti, Parveen; Pineda, Marbin; Brenner, Alina; Carr, Zhanat; Gusev, Boris I.; Zhumadilov, Zhaxibay; Simon, Steven L.; Bouville, Andre; Rutter, Joni L.; Ron, Elaine; Struewing, Jeffery P.

    2010-01-01

    Risk factors for thyroid cancer remain largely unknown except for ionizing radiation exposure during childhood and a history of benign thyroid nodules. Because thyroid nodules are more common than thyroid cancers and are associated with thyroid cancer risk, we evaluated several polymorphisms potentially relevant to thyroid tumors and assessed interaction with ionizing radiation exposure to the thyroid gland. Thyroid nodules were detected in 1998 by ultrasound screening of 2997 persons who lived near the Semipalatinsk nuclear test site in Kazakhstan when they were children (1949-62). Cases with thyroid nodules (n=907) were frequency matched (1:1) to those without nodules by ethnicity (Kazakh or Russian), gender, and age at screening. Thyroid gland radiation doses were estimated from fallout deposition patterns, residence history, and diet. We analyzed 23 polymorphisms in 13 genes and assessed interaction with ionizing radiation exposure using likelihood ratio tests (LRT). Elevated thyroid nodule risks were associated with the minor alleles of RET S836S (rs1800862, p = 0.03) and GFRA1 -193C>G (rs not assigned, p = 0.05) and decreased risk with XRCC1 R194W (rs1799782, p-trend = 0.03) and TGFB1 T263I (rs1800472, p = 0.009). Similar patterns of association were observed for a small number of papillary thyroid cancers (n=25). Ionizing radiation exposure to the thyroid gland was associated with significantly increased risk of thyroid nodules (age and gender adjusted excess odds ratio/Gy = 0.30, 95% confidence interval 0.05-0.56), with evidence for interaction by genotype found for XRCC1 R194W (LRT p value = 0.02). Polymorphisms in RET signaling, DNA repair, and proliferation genes may be related to risk of thyroid nodules, consistent with some previous reports on thyroid cancer. Borderline support for gene-radiation interaction was found for a variant in XRCC1, a key base excision repair protein. Other pathways, such as genes in double strand break repair, apoptosis, and

  10. Las retóricas del público. El espacio de consumo del arte como institución política

    Directory of Open Access Journals (Sweden)

    Bayón, Fernando

    2012-04-01

    Full Text Available This article aims to show how the space for leisure practices in the art sector is a political construction. To do this, the essay focuses on public (art audience as key concept. It argues that art audiences are critically engaged and politically significant communities, through which each society gives an institutional dimension to cultural practices. In dialogue with modern thinkers such as Adorno, Baudrillard, Warburg and Benjamin, or architects like Rem Koolhaas, the article presents audiences and publics from both a social and institutional points of view, understanding that the temporal and spatial dynamics behind their community boundaries are worth exploring. We think that there are at least two dominant forms of an emerging social rhetoric that are producing innovative ways of building the spaces for consuming cultural offer in the late modern society: we call them rhetorics of convergence and rhetorics of persuation.

    Este artículo pretende poner de manifiesto cómo el espacio de las prácticas de ocio cultural es una construcción política. Para ello, escoge como categoría central al público, en tanto formación comunitaria por medio de la cual cada sociedad institucionaliza de forma dinámica las prácticas de ocio asociadas a la oferta artística. En diálogo con pensadores como Adorno, Baudrillard, Warburg o Benjamin, se describen las dimensiones espaciales y temporales en que se desarrollan los vínculos comunitarios, específicos de la institución del “público” en el sector cultural. Para ello, el ensayo intenta identificar cuáles son las estrategias comunicativas que están produciendo esos espacios de presencia y esos tiempos de experiencia para las prácticas del ocio cultural en las sociedades del consumismo avanzado. Las he llamado retóricas de la convergencia y retóricas de la persuasión.

  11. Mutation Breeding Newsletter. No. 39

    International Nuclear Information System (INIS)

    1992-01-01

    This newsletter contains brief articles on the use of radiation to induce mutations in plants; radiation-induced mutants in Chrysanthemum; disrupting the association between oil and protein content in soybean seeds; mutation studies on bougainvillea; a new pepper cultivar; and the use of mutation induction to improve the quality of yam beans. A short review of the seminar on the use of mutation and related biotechnology for crop improvement in the Middle East and Mediterranean regions, and a description of a Co-ordinated Research Programme on the application of DNA-based marker mutations for the improvement of cereals and other sexually reproduced crop species are also included. Two tables are given: these are based on the ''FAO/IAEA Mutant Varieties Database'' and show the number of mutated varieties and the number of officially released mutant varieties in particular crops/species. Refs and tabs

  12. Mutations induced in plant breeding

    International Nuclear Information System (INIS)

    Barriga B, P.

    1984-01-01

    The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented. (Author)

  13. Mutations induced in plant breeding

    Energy Technology Data Exchange (ETDEWEB)

    Barriga B, P. (Universidad Austral de Chile, Valdivia. Inst. de Produccion y Sanidad Vegetal)

    1984-10-01

    The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented.

  14. Retórica clásica y redes on line: dos realidades convergentes y análogas. Perspectivas y prospectivas de 9 expertos en Comunicación

    Directory of Open Access Journals (Sweden)

    Inma Berlanga

    2013-01-01

    Full Text Available El presente trabajo pretende probar la relación entre la retórica clásica y las redes sociales on line como realidades convergentes y análogas, así como las sinergias que entre ellas se establecen en aras de una comunicación más persuasiva y eficaz. Para este objetivo se sirve de la técnica cualitativa de la entrevista en profundidad a expertos en el tema, que resellen nuestra hipótesis sobre estas mutuas transferencias. En un momento de éxtasis de la comunicación, mediado por el boom de las redes on line, redescubrir los principios retóricos originales puede ser de alta pertinencia a fin de devolver a la comunicación su faceta más humana y creativa.

  15. Traducción y educación para la comunicación social: el ejercicio de la traducción en la instrucción retórica

    OpenAIRE

    Chico Rico, Francisco

    2008-01-01

    Este trabajo de investigación se centra fundamentalmente en los debates disciplinares latinos en torno a la traducción y a su importancia para la formación del orador en particular y para la educación para la comunicación social en general. En este contexto se aborda el ejercicio de la traducción tanto en el marco de la teoría retórica como en el dominio de la teoría gramatical, así como en el seno de las relaciones entre aquél y éste, ya que si la teoría retórica consideró la traducción fund...

  16. Mutation breeding newsletter. No. 43

    International Nuclear Information System (INIS)

    1997-10-01

    This issue of the Newsletter includes articles dealing with radiation induced mutation based plant breeding research findings aimed at improving productivity, disease resistance and tolerance of stress conditions

  17. Mutation breeding in mangosteen

    International Nuclear Information System (INIS)

    Mohd Khalid Mohd Zain

    2002-01-01

    Mangosteen the queen of the tropical fruits is apomitic and only a cultivar is reported and it reproduces asexually. Conventional breeding is not possible and the other methods to create variabilities are through genetic engineering and mutation breeding. The former technique is still in the infantry stage in mangosteen research while the latter has been an established tool in breeding to improve cultivars. In this mutation breeding seeds of mangosteen were irradiated using gamma rays and the LD 50 for mangosteen was determined and noted to be very low at 10 Gy. After sowing in the seedbed, the seedlings were transplanted in polybags and observed in the nursery bed for about one year before planted in the field under old oil palm trees in Station MARDI, Kluang. After evaluation and screening, about 120 mutant mangosteen plants were selected and planted in Kluang. The plants were observed and some growth data taken. There were some mutant plants that have good growth vigour and more vigorous that the control plants. The trial are now in the fourth year and the plants are still in the juvenile stage. (Author)

  18. Mutation breeding in chickpea

    International Nuclear Information System (INIS)

    Sagel, Z.; Tutluer, M. I.; Peskircioglu, H.; Kantoglu, Y.; Kunter, B.

    2009-01-01

    Chickpea is an important food legume in Turkey. Turkey is one of the most important gene centers in the world for legumes. Realizing the potential of induced mutations, a mutation breeding programme was initiated at the Nuclear Agriculture Section of the Saraykoy Nuclear Research and Training Center in 1994. The purpose of the study was to obtain high yielding chickpea mutants with large seeds, good cooking quality and high protein content. Beside this some characters such as higher adaptation ability, tolerant to cold and drought, increased machinery harvest type, higher yield, resistant to diseases especially to antracnose and pest were investigated too. Parent varieties were ILC-482, AK-7114 and AKCIN-91 had been used in these experiments. The irradiation doses were 0 (control), 50, 100, 150, 200, 250, 300, 350 and 400 Gy for field experiments, respectively. As a result of these experiments, two promising mutant lines were chosen and given to the Seed Registration and Certification Center for official registration These two promising mutants were tested at five different locations of Turkey, in 2004 and 2005 years. After 2 years of registration experiments one of outstanding mutants was officially released as mutant chickpea variety under the name TAEK-SAGEL, in 2006. Some basic characteristics of this mutant are; earliness (95-100 day), high yield capacity (180-220 kg/da), high seed protein (22-25 %), first pot height (20-25 cm), 100 seeds weight (42-48 g), cooking time (35-40 min) and resistance to Ascochyta blight.

  19. Estratégias Retóricas de Legitimação nos Relatórios da Administração: Respostas ao Movimento Antitabagista

    Directory of Open Access Journals (Sweden)

    Susana Cipriano Dias Raffaelli

    2017-05-01

    Full Text Available O movimento antitabagista brasileiro impulsionou o desenvolvimento de peças regulatórias que desafiaram a legitimidade das empresas do setor. As organizações podem adotar ações estratégicas retóricas, visando ganhar, manter ou recuperar legitimidade. Tais ações são evidenciadas em Relatórios da Administração (RA por se caracterizarem como instrumentos de comunicação social. Desse modo, o presente artigo almeja identificar como a empresa líder do setor tabagista, a Souza Cruz S/A, utilizou os conteúdos dos RAs como instrumento de estratégia retórica de legitimação, no período de 1986 a 2012. O Institucionalismo Organizacional foi utilizado como referencial teórico, e a metodologia para tratamento dos dados foi a análise de conteúdo. Evidenciou-se que a Souza Cruz S/A empreendeu esforços para manter sua legitimidade no período analisado, intensificando o uso de apelos retóricos (ethos, pathos e logos em defesa dos argumentos: (a fumar é uma escolha racional adulta; (b a legislação favorece o comércio ilegal de cigarros; e (c as atividades da empresa beneficiam a sociedade. Assim, este trabalho destaca os RAs como fonte de análise em estudos organizacionais, evidencia a retórica como possibilidade estratégica e propícia aos gestores reflexões acerca da influência do ambiente nas estratégias organizacionais.

  20. As necessidades e os desejos na formação discursiva do marketing: base consistente ou retórica legitimadora?

    Directory of Open Access Journals (Sweden)

    Vinícius Andrade Brei

    Full Text Available Neste artigo realizamos uma análise crítica da gênese histórica da área de marketing até sua constituição atual, com um foco principal: verificar se as necessidades e os desejos dos clientes são base consistente da formação histórica, discursiva, do marketing ou, apenas, retórica legitimadora para a atuação da área. Adotamos uma orientação filosófico-epistemológica baseada na teoria do discurso proposta por Michel Foucault, que nos permitiu constatar que a centralidade das necessidades e dos desejos dos clientes no discurso contemporâneo do marketing é resultado de uma série de transformações e disputas históricas pela hegemonia de uma determinada idéia ou ponto de vista, mas sempre ancorada em condições socioeconômicas, ambientais, favoráveis às transformações ocorridas. Em outras palavras, concluímos que as transformações discursivas, constituintes da área, foram o resultado de um processo produzido social e historicamente, tendo ocorrido muito mais como um resultado de mudanças na economia e no mundo empresarial do que como uma espécie de "vocação" natural do marketing.

  1. Entre la retórica legal y eclesiástica:una misión antiesclavista en el siglo XVII

    Directory of Open Access Journals (Sweden)

    Rebeca Moreno Orama

    2015-06-01

    Full Text Available En 1537 la Iglesia prohibió la esclavitud de los amerindios, y no sería sino hasta 1839 que hiciera lo mismo con la esclavitud africana. Entre los siglos entre una postura a la otra, la impugnación religiosa de la esclavitud africana estuvo en manos de unos cuantos misioneros. Este trabajo discute cómo a través del empleo de la retórica legal y eclesiástica, el capuchino Francisco José de Jaca construye en su Resolución (La Habana, 1681un proyecto misionero alterno, centrado en la denuncia del cuerpo católico envuelto en la esclavitud y no en la evangelización de los africanos. In 1537 the Catholic Church prohibited Amerindian slavery, but not until 1839 would they do the same with African slavery. Between the centuries that span from one position to the other, religious condemnation of African slavery was in the hands of but a few missionaries. This work discusses how, through the employment of legal and ecclesiastic rhetoric, the Capuchin monk Francisco José de Jaca constructs in his Resolución (Havana, 1681 an alternative missionary project, focused on the denunciation of the Catholic body involved in the slavery institution and not on the evangelization of Africans.

  2. ¿Qué significa estar bien informado? Retóricas, percepciones y actitudes ante el problema del etiquetado de los alimentos transgénicos

    Directory of Open Access Journals (Sweden)

    JÓSEAN LARRIÓN

    2016-01-01

    Full Text Available En este trabajo realizo un estudio de caso de la controversia sobre el etiquetado de los alimentos transgénicos, centrándome en España y la Unión Europea. Inicialmente, comparo los discursos sociales que conciben el etiquetado fundamentalmente como un problema o como una solución. Después, analizo las principales respuestas legislativas y los aspectos concretos que en este ámbito siguen siendo polémicos. A continuación, expongo los límites del modelo del déficit cognitivo y el problema de establecer qué información es relevante o irrelevante. El trabajo concluye mostrando la presencia de las retóricas de la seguridad y el riesgo, y proponiendo un esquema de posiciones sociales ante el consumo de transgénicos, su etiquetado diferencial y el quehacer científico en nuestras sociedades.

  3. A trapaça e os trapaceiros: algumas sugestões para uma abordagem retórica dos gêneros do discurso

    Directory of Open Access Journals (Sweden)

    Marco Antônio Gutierrez

    2010-07-01

    Full Text Available http://dx.doi.org/10.5007/1807-9288.2008v4n2p33 A correspondência indesejada (spam representa na melhor hipótese um incômodo e, na pior, um risco à segurança e à privacidade dos usuários. No entanto, trata-se de fenômeno típico do uso massivo da Internet e só isso parece-nos suficiente para indicar a necessidade de sua compreensão. O presente artigo aborda uma das categorias mais insidiosas desse tipo de correspondência – as mensagens de Cavalo de Tróia, elaboradas por criminosos com o objetivo de instalar programas maliciosos nos computadores de usuários incautos. Nossa abordagem, porém, será eminentemente retórica, buscando compreender o fenômeno como um jogo argumentativo, como parte de um contexto mais amplo destinado a situar e categorizar gêneros emergentes do discurso em meio digital.

  4. Las jerarquías étnicas y la retórica del multiculturalismo estatal en San José del Guaviare

    Directory of Open Access Journals (Sweden)

    Carlos del Cairo

    2011-01-01

    Full Text Available Este artículo analiza las tensiones entre las jerarquías étnicas en San José del Guaviare y la valoración positiva de la diversidad cultural que introdujo la retórica del multiculturalismo estatal. En particular, describe la posición diferencial que ocupa la gente jiw, tucano y nukak de acuerdo con las jerarquías elaboradas por los "blancos" del pueblo, los tucanos y los funcionarios estatales. Las características de estas jerarquías permiten cuestionar tres reduccionismos constitutivos del multiculturalismo estatal colombiano, a saber, la presunción de la unidad en la diversidad étnica, la esencialización de la diferencia cultural y la reificación de la comunidad. El artículo destaca la importancia de analizar las percepciones sobre la diferencia cultural en procesos que van más allá de la formalidad multicultural que exaltan las instituciones estatales.

  5. Retórica y divulgación científica. Una propuesta para la web de empresas biotecnológicas

    Directory of Open Access Journals (Sweden)

    María Luisa García Hernández

    2017-03-01

    Full Text Available La retórica como teoría de la argumentación y de la persuasión se relaciona con un modo específico de enfocar la divulgación científica, que ya no se concibe como mera alfabetización, sino como un diálogo. Tal cambio implica la participación activa de la sociedad en la toma de decisiones sobre la orientación de la ciencia. Con ese marco, entendemos que empresas como las biotecnológicas, cuya actividad despierta entre la ciudadanía filias y fobias que pueden marcar su devenir, deben tomar un papel activo en esas conversaciones. Sobre ese planteamiento hemos seleccionado una muestra constituida por pymes biotecnológicas asentadas en cuatro parques tecnológicos de Andalucía. Hemos analizado los textos de las páginas de inicio de 29 pymes; porque entendemos que esos relatos, propios y no intermediados, nos permiten conocer si consideran a la ciudadanía como auditorio de interés al que dirigirse, primer paso para hacer de la divulgación el eje de su comunicación corporativa. La respuesta es negativa.

  6. Análisis de retóricas políticas y periodísticas a raíz de las elecciones presidenciales colombianas de 2006

    Directory of Open Access Journals (Sweden)

    Adriana María Ángel Botero

    2008-01-01

    Full Text Available Se analizan las retóricas empleadas por los candidatos a la Presidencia de la República de Colombia en la campaña electoral de 2006 y las de los periodistas que los entrevistaron a través de las cadenas radiales con mayor audiencia nacional. Para dar cuenta de las retóricas se recurre a los planteamientos de Bourdieu y a las categorías de análisis de conversación propuestas por Potter y Verón. Una vez realizados los análisis intra y extradiscursivo a las entrevistas radiales, se explican los mecanismos a partir de los cuales los periodistas construyen su discurso basándose en retóricas como las de la objetividad, y el maniqueísmo; y se exponen las características a través de las cuales los políticos configuran un discurso basado en la estructura del relato.

  7. Studies on mutation techniques in rice breeding

    International Nuclear Information System (INIS)

    Wang Cailian; Chen Qiufang; Jin Wei

    2001-01-01

    Synthetical techniques for improving rice mutation breeding efficiency were studied. The techniques consist of corresponding relationship between radiosensitivity and mutation frequency, choosing appropriate materials, combination of physical and chemical mutagens, mutagenic effects of the new mutagenic agents as proton, ions, synchronous irradiation and space mutation. These techniques and methods for inducing mutations are very valuable to increase inducing mutation efficiency and breeding level

  8. Mutation breeding in soybean

    International Nuclear Information System (INIS)

    Baradjanegara, A.A.

    1983-01-01

    In Indonesia, soybean is one of the important crop after rice. It is generally cultivated in the lowlands and rarely in the highlands. Seeds of soybean variety ORBA were treated with various doses of fast neutrons, gamma rays, EMS and NaN 3 with the aims of studying the mutagen effects in M-1 and M-2 generations and also to select mutants adapted to highland conditions. D-50 doses for gamma rays, fast neutrons and EMS were around 23 krad, 2,300 rad, 0.3%, respectively. Much higher chlorophyll mutation frequency was observed in EMS treatment of 0.3%. Seven mutants were shorter and four early mutants matured from 4 to 20 days earlier than the control plants. Two early mutants were quite adaptable in both the low and highlands and produced better yields than the parental material. (author)

  9. Founder Mutations in Xeroderma Pigmentosum

    Science.gov (United States)

    Tamura, Deborah; DiGiovanna, John J.; Kraemer, Kenneth H.

    2012-01-01

    In this issue, Soufir et al. report a founder mutation in the XPC DNA repair gene in 74% of families with xeroderma pigmentosum (XP) in the Maghreb region (Algeria, Morocco, and Tunisia) of northern Africa. These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP. PMID:20463673

  10. Mutations causative of familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

    2016-01-01

    causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

  11. MPL mutations in myeloproliferative disorders

    DEFF Research Database (Denmark)

    Beer, Philip A.; Campbell, Peter J.; Scott, Linda M.

    2008-01-01

    Activating mutations of MPL exon 10 have been described in a minority of patients with idiopathic myelofibrosis (IMF) or essential thrombocythemia (ET), but their prevalence and clinical significance are unclear. Here we demonstrate that MPL mutations outside exon 10 are uncommon in platelet c......DNA and identify 4 different exon 10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF. Allele-specific polymerase chain reaction was then used to genotype 776 samples from patients with ET entered into the PT-1 studies. MPL mutations were identified in 8.5% of JAK2 V617F......(-) patients and a single V617F(+) patient. Patients carrying the W515K allele had a significantly higher allele burden than did those with the W515L allele, suggesting a functional difference between the 2 variants. Compared with V617F(+) ET patients, those with MPL mutations displayed lower hemoglobin...

  12. Mutation induction by heavy ions

    Science.gov (United States)

    Kiefer, J.; Stoll, U.; Schneider, E.

    1994-10-01

    Mutation induction by heavy ions is compared in yeast and mammalian cells. Since mutants can only be recovered in survivors the influence of inactivation cross sections has to be taken into account. It is shown that both the size of the sensitive cellular site as well as track structure play an important role. Another parameter which influences the probability of mutation induction is repair: Contrary to naive assumptions primary radiation damage does not directly lead to mutations but requires modification to reconstitute the genetic machinery so that mutants can survive. The molecular structure of mutations was analyzed after exposure to deuterons by amplification with the aid of polymerase chain reaction. The results-although preliminary-demonstrate that even with densely ionizing particles a large fraction does not carry big deletions which suggests that point mutations may also be induced by heavy ions.

  13. Mutation breeding in ornamental plants

    International Nuclear Information System (INIS)

    Datta, S.K.

    1990-01-01

    Full text: Mutation induction produced a large number of new promising varieties in ornamental species. 37 new mutants of Chrysanthemum and 14 of rose have been developed by mutations and released for commercialisation. The mutations in flower colour/shape were detected as chimeras in M 1 V 1 , M 1 V 2 , M 1 V 3 generations. The mutation frequency varied with the cultivar and exposure to gamma rays. Comparative analysis of original cultivars and their respective induced mutants on cytomorphological, anatomical and biochemical characters are being carried out for better understanding of the mechanism involved in the origin and evolution of somatic flower colour/shape mutations. Cytological analysis with reference to chromosomal aberrations, chromosome number, ICV, INV and DNA content gave no differences between the original and mutant cultivars. Analysis of florets/petal pigments by TLC and spectrophotometric methods indicated both qualitative and quantitative changes. (author)

  14. Mutational meltdown in laboratory yeast populations

    NARCIS (Netherlands)

    Zeyl, C.; Mizesko, M.; Visser, de J.A.G.M.

    2001-01-01

    In small or repeatedly bottlenecked populations, mutations are expected to accumulate by genetic drift, causing fitness declines. In mutational meltdown models, such fitness declines further reduce population size, thus accelerating additional mutation accumulation and leading to extinction. Because

  15. Minisequencing mitochondrial DNA pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Carracedo Ángel

    2008-04-01

    Full Text Available Abstract Background There are a number of well-known mutations responsible of common mitochondrial DNA (mtDNA diseases. In order to overcome technical problems related to the analysis of complete mtDNA genomes, a variety of different techniques have been proposed that allow the screening of coding region pathogenic mutations. Methods We here propose a minisequencing assay for the analysis of mtDNA mutations. In a single reaction, we interrogate a total of 25 pathogenic mutations distributed all around the whole mtDNA genome in a sample of patients suspected for mtDNA disease. Results We have detected 11 causal homoplasmic mutations in patients suspected for Leber disease, which were further confirmed by standard automatic sequencing. Mutations m.11778G>A and m.14484T>C occur at higher frequency than expected by change in the Galician (northwest Spain patients carrying haplogroup J lineages (Fisher's Exact test, P-value Conclusion We here developed a minisequencing genotyping method for the screening of the most common pathogenic mtDNA mutations which is simple, fast, and low-cost. The technique is robust and reproducible and can easily be implemented in standard clinical laboratories.

  16. Mutation breeding in malting barley

    Energy Technology Data Exchange (ETDEWEB)

    Hiraki, Makoto; Sanada, Matsuyoshi

    1984-03-01

    The released varieties of malting barley through mutation breeding is more than ten in number, including foreign varieties. In Japan four varieties has been released so far. We started mutation breeding in 1956 together with cross breeding that we employed before. Until now, Gamma 4, Amagi Nijo 1 and Fuji Nijo 2 have been produced from the direct use of induced mutations and Nirasaki Nijo 8 from the indirect use of them. Mutation breeding has been used mainly in the partial improvement of agronomic characteristics since the selection for malting quality was very complicated. As the variety bred by induced mutation is usually equivalent to the original variety in malting quality, both this new variety and the original one could be cultivated in the same area without any problem on later malt production. Particularly when one farmer cultivates barley in an extensive acreage, he can harvest at the best time according to the different maturing time of each variety. From these points of view, mutation breeding is an efficient tool in malting barley breeding. Mutagens we have used so far are X-rays, ..gamma..-rays, neutron and chemicals such as dES. From our experience in selection, the low dose of radiation and chemical mutagens are more effective in selection of point mutation than the high dose of radiation which tends to produce many abnormal but few practical mutants. (author).

  17. HNPCC: Six new pathogenic mutations

    Directory of Open Access Journals (Sweden)

    Epplen Joerg T

    2004-06-01

    Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

  18. Factor V Leiden Mutation and PT 20210 Mutation Test

    Science.gov (United States)

    ... Disorders Fibromyalgia Food and Waterborne Illness Fungal Infections Gout Graves Disease Guillain-Barré Syndrome Hashimoto Thyroiditis Heart ... Tested? To determine whether you have an inherited gene mutation that increases your risk of developing a ...

  19. Mutations induced by ultraviolet light

    International Nuclear Information System (INIS)

    Pfeifer, Gerd P.; You, Young-Hyun; Besaratinia, Ahmad

    2005-01-01

    The different ultraviolet (UV) wavelength components, UVA (320-400 nm), UVB (280-320 nm), and UVC (200-280 nm), have distinct mutagenic properties. A hallmark of UVC and UVB mutagenesis is the high frequency of transition mutations at dipyrimidine sequences containing cytosine. In human skin cancers, about 35% of all mutations in the p53 gene are transitions at dipyrimidines within the sequence 5'-TCG and 5'-CCG, and these are localized at several mutational hotspots. Since 5'-CG sequences are methylated along the p53 coding sequence in human cells, these mutations may be derived from sunlight-induced pyrimidine dimers forming at sequences that contain 5-methylcytosine. Cyclobutane pyrimidine dimers (CPDs) form preferentially at dipyrimidines containing 5-methylcytosine when cells are irradiated with UVB or sunlight. In order to define the contribution of 5-methylcytosine to sunlight-induced mutations, the lacI and cII transgenes in mouse fibroblasts were used as mutational targets. After 254 nm UVC irradiation, only 6-9% of the base substitutions were at dipyrimidines containing 5-methylcytosine. However, 24-32% of the solar light-induced mutations were at dipyrimidines that contain 5-methylcytosine and most of these mutations were transitions. Thus, CPDs forming preferentially at dipyrimidines with 5-methylcytosine are responsible for a considerable fraction of the mutations induced by sunlight in mammalian cells. Using mouse cell lines harboring photoproduct-specific photolyases and mutational reporter genes, we showed that CPDs (rather than 6-4 photoproducts or other lesions) are responsible for the great majority of UVB-induced mutations. An important component of UVB mutagenesis is the deamination of cytosine and 5-methylcytosine within CPDs. The mutational specificity of long-wave UVA (340-400 nm) is distinct from that of the shorter wavelength UV and is characterized mainly by G to T transversions presumably arising through mechanisms involving oxidized DNA

  20. Metáfora: a funcionalidade do tropo na articulação da retórica e da filosofia na mundividência renascentista

    Directory of Open Access Journals (Sweden)

    Ana C. Martins

    2009-12-01

    Full Text Available Desde os fundamentos aristotélicos que o processo de metapherein, assente na similitudo e transferência semântica, concilia, de forma promissora, a argumentação retórica e a problematização filosófica, forma e conteúdo, res et uerba. Os humanistas quinhentistas, fiéis a esta indissociabilidade e na esteira do ideal de imitativo e aemulatio do legado da Antiguidade Clássica, rentabilizaram as virtualidades e potencialidades da metáfora, convertendo o tropo num instrumento de pedagogia, de génese e criação literárias. A historiografia renascentista é pejada, por isso, de tratados e colectâneas, repositórios enciclopédicos de sentenças morais, que estão a serviço da formação integral e que espelham um escrupuloso e afincado trabalho filológico. O homem renascentista é, assim, instigado a reflectir sobre a sua natura, diante da sua condição dual, dos seus vícios e virtudes, das suas forças e fragilidades, e a leitura metafórica ajuda-o, neste sentido, a redimensionar o mundo e a projectarse nele, a representar, a conhecer e a descobrir(-se na sua condição polimórfica, nas suas misérias e nos seus sonhos.

  1. La (reconstrucció visual i retòrica de Jaume I a la Festa de l’Estendard de Mallorca durant l’època foral

    Directory of Open Access Journals (Sweden)

    Francesc Granell Sales

    2017-06-01

    Full Text Available Resum: L’article pretén adverar de quina manera es configurava i s’identificava la figura del rei en Jaume a la Festa de l’Estendard, la commemoració anual de la conquesta cristiana de la ciutat de Mallorca, mitjançant l’anàlisi dels elements visuals i retòrics planificats per al desenvolupament d’aquella. Cal parar atenció, concretament, a dos d’aquests elements: el portaestandard que anava a cavall ben abillat amb armadura i altres objectes i l’eloqüent prèdica –coneguda com el Sermó de la Conquesta– que pronunciava un clergue acreditat per a tal funció.   Paraules clau: Jaume I, imatge règia, festes de la Baixa Edat Mitjana, iconografia del poder, Regne de Mallorca Abstract: This paper attempts to discuss the manner in which the image of king James I was customized and established in the Festa de l’Estendard, the annual commemoration ceremony of the christian conquest of the city of Mallorca. We will do so through an analysis of the visual and rhetorical elements planned for the unfolding of the ritual. One should focus particular attention on two of these elements: the standard bearer on horseback well attired in armour and other objects and the speech known as the «Sermó de la Conquesta» delivered by a cleric. Keywords: James I of Aragon, Royal Image, Late Medieval Ceremonies, Iconography of Power, Kingdom of Mallorca

  2. Argumentos Comestibles. La construcción retórica de la percepción pública de los alimentos transgénicos

    Directory of Open Access Journals (Sweden)

    Herrera Racionero, Paloma

    2005-04-01

    Full Text Available The main goal of this paper is to analyze how the difíerent types of reasons are constructed in order to créate one public perception or another about genetically modified food. Despite the apparent newness of this kind of foods, these reasons can be assimilated to two fiindamental discourse formations with ampie presence in all the scientific discoveríes. When modelling our analysis on these two rhetorical strategies —that we called 'illustrate' and 'romantic'— the latent presuppositions of the social agents considered and the preconceptions that these agents try to induce in the public opinión are shown. It is also shown a series of important shades and directions that usually escape to the more common analysis in terms of 'pros' and 'cons' genetically modified food.

    El objetivo de este trabajo es analizar cómo se construyen los diferentes tipos de argumentos orientados a crear una u otra percepción pública de los alimentos transgénicos. No obstante la aparente novedad de este tipo de alimentos, dichos argumentos pueden asimilarse a dos tipos fundamentales de formaciones discursdivas de amplia tradición ante las diferentes aportaciones de la ciencia. Al modelar nuestro análisis sobre estas dos estrategias retóricas —que llamamos ilustrada y romántica—se ponen de manifiesto los presupuestos latentes de los agentes sociales y las preconcepciones que estos agentes tratan de inducir en la opinión pública, así como una serie de importantes matices y orientaciones que suelen escapar a un análisis en términos de 'pros* y 'contras' de los alimentos transgénicos.

  3. Modèle conceptuel commun pour la supervision des systèmes de sûreté du CERN

    CERN Document Server

    Hammouti, L

    2000-01-01

    La supervision des systèmes de sûreté des accélérateurs et des zones expérimentales du CERN est gérée spécifiquement d'une machine à l'autre. Chaque programme a été conçu et réalisé au moyen de la technologie de l'époque et sans suivre un modèle conceptuel commun. La situation actuelle risque de poser des problèmes importants pour l'avenir. En effet la disparité des systèmes de supervision et la nécessité de les faire évoluer ou de les renouveler alourdissent sensiblement la charge de travail ainsi que le coût de la maintenance. D'autre part, il est difficile, voire impossible, de les faire communiquer entre eux, or cela constitue une des requêtes principales de l'opération pour une meilleure coordination de l'exploitation. Le but de ce document consiste à présenter les bases d'un modèle conceptuel unique, en cours d'élaboration dans le cadre du LHC, afin de répondre aux problèmes et aux requêtes posés. Ce modèle servira de référence pour le renouvellement et l'évolution ...

  4. Radiation mutation breeding

    International Nuclear Information System (INIS)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected

  5. Radiation mutation breeding

    Energy Technology Data Exchange (ETDEWEB)

    Song, Hi Sup; Kim, Jae Sung; Kim, Jin Kyu; Shin, In Chul; Lim, Young Taek

    1998-04-01

    In order to develop an advanced technical knowledge for the selection of better mutants, some of the crops were irradiated and the mutation rate, the survival rate and the method for selction of a mutant were studied. Furthermore, this study aimed to obtain basic data applicable to the development of genetic resources by evaluation and analysis the specific character for selection of the superior mutant and its plant breeding. 1. selection of the mutant with a superior resistance against environment in the principal crops 1) New varieties of mutant rices such as Wonpyeongbyeo, Wongwangbyeo, Winmibyeo, and heogseon chalbeyeo (sticky forma) were registered in the national variety list and made an application to crop variety protection right. They are under review now. 2) We also keep on studying on the number of a grain of 8 lines of excellent mutant rice for the purpose of improvement of breeding . 3) We selected 3 lines which have a resistance to pod and stem blight in large soybean, 31 lines with small grain size and higher yield, 112 lines of soybean of cooking, 7 lines of low lipoxygenase content, and 12 lines with decreased phytic acid content by 20 % compared to the previous level. 2. Selection of advanced Mugunwha (Rose of Sharon) mutant 1) Bagseul, a new variety of mutant, was developed and 30 plantlets of it are being proliferated. 2) Fifty-three lines of a mutant having a various morphologies were selected.

  6. Mutation breeding in wheat

    International Nuclear Information System (INIS)

    Amer, I.M.

    2002-01-01

    The study aims to improve the productivity of wheat by using gamma ray (100 - 600 Gy) in mutation breading. Five local varieties were used and the program continued for the Sakha 69 for seven generations. Seeds irradiated with 600 Gy were not germinated in the field, while low doses (100-150 Gy) stimulated the root growth and spike length. The higher doses caused gradual decrease of growth with differences in varieties response. in the second generation, a genetic differences were noticed in most varieties using doses of 100-300 Gy, and the dispike was disappeared when 250 Gy was used. 79 plants from irradiated Sakha 69 were selected according to spike length and the number of grains and planted with the control to test the third generation. differences between the varieties were noticed and 8 mutants with high productivity were selected and evaluated in the fourth and fifth generations with the local variety. The mutants improve the productivity and in particular the mutants Nos.. (19-1), (14-3), and (30-2). The experiment showed the relation between the planting sites and the mutants in the sixth and seven generations

  7. Induced mutations in castor

    International Nuclear Information System (INIS)

    Ganesan, K.; Javad Hussain, H.S.; Vindhiyavarman, P.

    2001-01-01

    Castor (Ricinus communis L.) is an important oilseed crop in India. To create variability mutations were induced in two cultivars 'TMV5' (maturing in 130-140 days) and 'CO1' (perennial type). Gamma rays and diethyl sulphate and ethidium bromide were used for seed treatment. Ten doses, from 100 to 1000 Gy were employed. For chemical mutagenesis five concentrations of mutagenes from 10 to 50 mM were tried. No economic mutants could be isolated after treatment with the chemical mutagens. The following economic mutants were identified in the dose 300 Gy of gamma rays. Annual types from perennial CO 1 castor CO 1 is a perennial variety (8-10 years) with bold seeds (100 seed weight 90 g) and high oil content (57%). Twenty-one lines were isolated with annual types (160-180 days) with high yield potential as well as bold seeds and high oil content. These mutants, identified in M 3 generation were bred true in subsequent generations up to M 8 generation. Critical evaluation of the mutants in yield evaluation trials is in progress

  8. Proliferation and survival molecules implicated in the inhibition of BRAF pathway in thyroid cancer cells harbouring different genetic mutations

    International Nuclear Information System (INIS)

    Preto, Ana; Soares, Paula; Sobrinho-Simões, Manuel; Gonçalves, Joana; Rebocho, Ana P; Figueiredo, Joana; Meireles, Ana M; Rocha, Ana S; Vasconcelos, Helena M; Seca, Hugo; Seruca, Raquel

    2009-01-01

    Thyroid carcinomas show a high prevalence of mutations in the oncogene BRAF which are inversely associated with RAS or RET/PTC oncogenic activation. The possibility of using inhibitors on the BRAF pathway as became an interesting therapeutic approach. In thyroid cancer cells the target molecules, implicated on the cellular effects, mediated by inhibition of BRAF are not well established. In order to fill this lack of knowledge we studied the proliferation and survival pathways and associated molecules induced by BRAF inhibition in thyroid carcinoma cell lines harbouring distinct genetic backgrounds. Suppression of BRAF pathway in thyroid cancer cell lines (8505C, TPC1 and C643) was achieved using RNA interference (RNAi) for BRAF and the kinase inhibitor, sorafenib. Proliferation analysis was performed by BrdU incorporation and apoptosis was accessed by TUNEL assay. Levels of protein expression were analysed by western-blot. Both BRAF RNAi and sorafenib inhibited proliferation in all the cell lines independently of the genetic background, mostly in cells with BRAF V600E mutation. In BRAF V600E mutated cells inhibition of BRAF pathway lead to a decrease in ERK1/2 phosphorylation and cyclin D1 levels and an increase in p27 Kip1 . Specific inhibition of BRAF by RNAi in cells with BRAF V600E mutation had no effect on apoptosis. In the case of sorafenib treatment, cells harbouring BRAF V600E mutation showed increase levels of apoptosis due to a balance of the anti-apoptotic proteins Mcl-1 and Bcl-2. Our results in thyroid cancer cells, namely those harbouring BRAF V600E mutation showed that BRAF signalling pathway provides important proliferation signals. We have shown that in thyroid cancer cells sorafenib induces apoptosis by affecting Mcl-1 and Bcl-2 in BRAF V600E mutated cells which was independent of BRAF. These results suggest that sorafenib may prove useful in the treatment of thyroid carcinomas, particularly those refractory to conventional treatment and

  9. COMPREENDER OS DIREITOS HUMANOS EM CABO VERDE: da retórica político-filosófica à praxis jurídica

    Directory of Open Access Journals (Sweden)

    Nataniel Andrade Monteiro

    2016-07-01

    Full Text Available O artigo procura analisar a coerência entre a retórica político-filosófica e a praxis jurídica, tendo como locus de análise os direitos humanos em Cabo Verde. Numa perspectiva histórica, a afirmação dos direitos humanos aconteceu de forma paulatina num processo de sucessivas lutas e revindicações que culminaram em 1948 com a Declaração Universal dos Direitos Humanos. A Declaração é protegida pelo ordenamento jurídico de diferentes Estados e é um dos temas mais debatidos a nível mundial. O caso de Cabo Verde não constitui excepção a este fenómeno, apesar de ser um Estado modelo em África em matéria de direitos humanos. Porém, existem preocupações no que se refere às denúncias de violações constantes como sejam: a morosidade da justiça, as condições precárias das instalações prisionais, os abusos por parte de agentes policiais, a hostilidade contras as mulheres e os abusos contra as crianças. Deste modo, procuramos compreender esta problemática à luz da filosofia política contemporânea, analisando para o efeito um conjunto de perspectivas que configuram a retórica político-filosófica e a práxis jurídica. Palavras-chave: Democracia; Direitos Humanos; Retórica Político-filosófica; Praxis Jurídica. UNDERSTANDING HUMAN RIGHTS IN CAPE VERDE: Political-philosophical rhetoric to legal praxis ABSTRACT The article seeks to analyses the coherence between the political-philosophical rhetoric and legal praxis, with the locus of human rights analysis in Cape Verde. In a historical perspective, the affirmation of human rights happened so gradual a process of successive fights and claims that culminated in 1948 with the Universal Declaration of Human Rights. The statement is protected by the legislation of different States and is one of the most discussed themes worldwide. The case of Cape Verde is no exception to this phenomenon, despite being a model State in Africa in the field of human rights. However

  10. Mutation breeding newsletter. No. 22

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1983-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 34

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1989-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

  12. Mutation breeding newsletter. No. 29

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1987-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  13. Mutation breeding newsletter. No. 15

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1980-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  14. Mutation breeding newsletter. No. 5

    International Nuclear Information System (INIS)

    1975-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 15

    International Nuclear Information System (INIS)

    1980-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 14

    International Nuclear Information System (INIS)

    1979-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 16

    International Nuclear Information System (INIS)

    1980-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 12

    International Nuclear Information System (INIS)

    1978-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  19. Mutation breeding newsletter. No. 28

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1986-09-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  20. Mutation breeding newsletter. No. 29

    International Nuclear Information System (INIS)

    1987-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 9

    International Nuclear Information System (INIS)

    1977-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  2. Mutation breeding newsletter. No. 7

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1976-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  3. Mutation Breeding Newsletter. No. 37

    International Nuclear Information System (INIS)

    1991-01-01

    This newsletter contains a brief account of FAO/IAEA meetings held in 1990 on plant breeding involving the use of induced mutations. It also features a list of commercially available plant cultivars produced by such techniques. Refs and tabs

  4. Mutation breeding newsletter. No. 4

    International Nuclear Information System (INIS)

    1974-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  5. Mutation breeding newsletter. No. 18

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1981-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 9

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1977-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  7. Mutation breeding newsletter. No. 34

    International Nuclear Information System (INIS)

    1989-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  8. Mutation breeding newsletter. No. 24

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1984-07-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 32

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 36

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1990-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

  11. Mutation breeding newsletter. No. 3

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1974-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  12. Mutation breeding newsletter. No. 3

    International Nuclear Information System (INIS)

    1974-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  13. Mutation breeding newsletter. No. 11

    International Nuclear Information System (INIS)

    1978-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 6

    International Nuclear Information System (INIS)

    1975-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 1

    International Nuclear Information System (INIS)

    1972-05-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 31

    International Nuclear Information System (INIS)

    1988-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 44

    International Nuclear Information System (INIS)

    1999-04-01

    This issue of the Newsletter presents research reports on the role of radiation induced mutation and chemical mutagens in improving productivity, disease resistance; cold and salinity tolerance of various crops and ornamental plants

  18. Mutation breeding newsletter. No. 1

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1972-05-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  19. Mutation breeding newsletter. No. 25

    International Nuclear Information System (INIS)

    1985-01-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding newsletter. No. 32

    International Nuclear Information System (INIS)

    1988-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 5

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1975-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  2. Mutation breeding newsletter. No. 20

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1982-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  3. Mutation breeding newsletter. No. 28

    International Nuclear Information System (INIS)

    1986-09-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  4. Mutation breeding newsletter. No. 17

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1981-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  5. Mutation breeding newsletter. No. 16

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1980-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 8

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1976-09-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  7. Mutation breeding newsletter. No. 4

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1974-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  8. Mutation breeding newsletter. No. 12

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1978-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 6

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1975-08-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 10

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1977-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 14

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1979-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  12. Mutation breeding newsletter. No. 36

    International Nuclear Information System (INIS)

    1990-07-01

    This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

  13. CHRNE Mutation and Congenital Myasthenia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-01-01

    Full Text Available The CHRNE e1293insG mutation was identified in 14 (60% of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

  14. Mutation breeding newsletter. No. 19

    International Nuclear Information System (INIS)

    1982-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 7

    International Nuclear Information System (INIS)

    1976-01-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 24

    International Nuclear Information System (INIS)

    1984-07-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 20

    International Nuclear Information System (INIS)

    1982-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. Mutation breeding newsletter. No. 18

    International Nuclear Information System (INIS)

    1981-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  19. Mutation breeding newsletter. No. 31

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1988-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  20. Mutation breeding newsletter. No. 27

    International Nuclear Information System (INIS)

    1986-02-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  1. Mutation breeding newsletter. No. 26

    International Nuclear Information System (INIS)

    1985-10-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  2. Mutation breeding newsletter. No. 17

    International Nuclear Information System (INIS)

    1981-03-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  3. Mutation breeding newsletter. No. 30

    International Nuclear Information System (INIS)

    1987-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  4. Mutation breeding newsletter. No. 13

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1979-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  5. Mutation breeding newsletter. No. 30

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1987-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  6. Mutation breeding newsletter. No. 19

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1982-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  7. Mutation breeding newsletter. No. 26

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1985-10-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  8. Mutation breeding newsletter. No. 25

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1985-01-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  9. Mutation breeding newsletter. No. 23

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1983-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  10. Mutation breeding newsletter. No. 27

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1986-02-01

    This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  11. Mutation breeding newsletter. No. 2

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1973-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  12. Mutation breeding newsletter. No. 11

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1978-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

  13. Mutation breeding newsletter. No. 23

    International Nuclear Information System (INIS)

    1983-01-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  14. Mutation breeding newsletter. No. 2

    International Nuclear Information System (INIS)

    1973-02-01

    This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  15. Mutation breeding newsletter. No. 10

    International Nuclear Information System (INIS)

    1977-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  16. Mutation breeding newsletter. No. 8

    International Nuclear Information System (INIS)

    1976-09-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  17. Mutation breeding newsletter. No. 13

    International Nuclear Information System (INIS)

    1979-02-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  18. BRAF mutations in conjunctival melanoma

    DEFF Research Database (Denmark)

    Larsen, Ann-Cathrine; Dahl, Christina; Dahmcke, Christina M.

    2016-01-01

    with atypia. BRAF mutations were identified in 39 of 111 (35%) cases. The rate ratio of BRAF-mutated versus BRAF-wild-type melanoma did not change over time. BRAF mutations were associated with T1 stage (p = 0.007), young age (p = 0.001), male gender (p = 0.02), sun-exposed location (p = 0.01), mixed....../non-pigmented tumour colour (p = 0.02) and nevus origin (p = 0.005), but did not associate with prognosis. BRAF status in conjunctival melanoma and paired premalignant lesions corresponded in 19 of 20 cases. Immunohistochemistry detected BRAF V600E mutations with a sensitivity of 0.94 and a specificity of 1...

  19. Mutation breeding newsletter. No. 22

    International Nuclear Information System (INIS)

    1983-07-01

    This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

  20. Mutation breeding in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Neto, A T; Menten, J O.M. [Centro de Energia Nuclear na Agricultura, Piracicaba (Brazil); Ando, A

    1980-03-01

    How mutation induction is used for plant breeding in Brazil is reported. For upland rice, the combined treatment with gamma-ray and mutagens (ethylene imine or ethylmethane sulfonate) has been used on the variety, Dourado Precoce, and some mutants with shortculm length and/or earliness without altering the productivity have been obtained. A project on the quantitative and qualitative protein improvement in upland rice was also started in 1979. In corn, the effect of gamma-irradiation on heterosis has been analyzed, and it was found that the single hybrids from two parental lines derived from irradiated seeds had increased ear productivity. For beans (Phaseolus yulgaris), gamma-irradiation and chemical mutagens have been used to induce the mutants with different seed color, disease resistance to golden mosaic virus and Xanthomonas phaseoli, earliness, high productivity and high protein content. Some mutants with partly improved characters have been obtained in these experiments. Two varieties of wheat tolerant to aluminum toxicity have been obtained, but the one showed high lodging due to its unfavorable plant height, and the other was highly susceptible to culm rust. Therefore, irradiation experiments have been started to improve these characters. The projects involving the use of gamma-irradiation have been tested to obtain the mutant lines insensitive to photoperiod and resistant to bud-blight in soybean, the mutant lines resistant to mosaic virus in papaya, the photoperiod-insensitive mutants in sorghum, the mosaic virus resistant and non-flowering mutants in sugar cane, and the Fusarium and nematode-resistant mutants in black pepper.

  1. Screening of three Mediterranean phenylketonuria mutations in ...

    Indian Academy of Sciences (India)

    as the most frequent mutation (Dahri et al. 2010). The. E280K mutation was also reported in Mediterranean popu- lations (Guldberg et al. 1993). Since Tunisia is a Mediter- ranean country, patients with PKU are presumed to have these mutations. The aim of this study was to assess prevalence of the three above mutations ...

  2. Signatures of mutational processes in human cancer

    NARCIS (Netherlands)

    Alexandrov, L.B.; Nik-Zainal, S.; Wedge, D.C.; Aparicio, S.A.; Behjati, S.; Biankin, A.V.; Bignell, G.R.; Bolli, N.; Borg, A.; Borresen-Dale, A.L.; Boyault, S.; Burkhardt, B.; Butler, A.P.; Caldas, C.; Davies, H.R.; Desmedt, C.; Eils, R.; Eyfjord, J.E.; Foekens, J.A.; Greaves, M.; Hosoda, F.; Hutter, B.; Ilicic, T.; Imbeaud, S.; Imielinsk, M.; Jager, N.; Jones, D.T.; Knappskog, S.; Kool, M.; Lakhani, S.R.; Lopez-Otin, C.; Martin, S.; Munshi, N.C.; Nakamura, H.; Northcott, P.A.; Pajic, M.; Papaemmanuil, E.; Paradiso, A.; Pearson, J.V.; Puente, X.S.; Raine, K.; Ramakrishna, M.; Richardson, A.L.; Richter, J.; Rosenstiel, P.; Schlesner, M.; Schumacher, T.N.; Span, P.N.; Teague, J.W.; Totoki, Y.; Tutt, A.N.; Valdes-Mas, R.; Buuren, M.M. van; Veer, L. van 't; Vincent-Salomon, A.; Waddell, N.; Yates, L.R.; Zucman-Rossi, J.; Futreal, P.A.; McDermott, U.; Lichter, P.; Meyerson, M.; Grimmond, S.M.; Siebert, R.; Campo, E.; Shibata, T.; Pfister, S.M.; Campbell, P.J.; Stratton, M.R.; Schlooz-Vries, M.S.; Tol, J.J. van; Laarhoven, H.W. van; Sweep, F.C.; Bult, P.; et al.,

    2013-01-01

    All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362

  3. A human model for multigenic inheritance : Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

    NARCIS (Netherlands)

    Bolk, S; Pelet, A; Hofstra, RMW; Angrist, M; Salomon, R; Croaker, D; Buys, CHCM; Lyonnet, S; Chakravarti, A

    2000-01-01

    Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximate to 50% of familial cases being heterozygous for mutations in the receptor tyrosine

  4. La dynamique des régimes de régulation de la sûreté nucléaire française à la lumière de ses instruments

    OpenAIRE

    Chanton , Olivier; Mangeon , Michael; Pallez , Frédérique; Rolina , Grégory

    2016-01-01

    International audience; L’accident de Fukushima a provoqué une prise de conscience sans précédent concernant l’importance des risques naturels à l’échelle internationale. En mettant en cause plusieurs aspects institutionnels, et notamment les liens de dépendance entre l’autorité de sûreté nucléaire et le ministère de l’industrie japonais, les analyses de l’accident posent également la question de la gouvernance et de la régulation des risques nucléaires avec une acuité nouvelle (Delamotte 201...

  5. TG101209, a small molecule JAK2-selective kinase inhibitor potently inhibits myeloproliferative disorder-associated JAK2V617F and MPLW515L/K mutations.

    Science.gov (United States)

    Pardanani, A; Hood, J; Lasho, T; Levine, R L; Martin, M B; Noronha, G; Finke, C; Mak, C C; Mesa, R; Zhu, H; Soll, R; Gilliland, D G; Tefferi, A

    2007-08-01

    JAK2V617F and MPLW515L/K represent recently identified mutations in myeloproliferative disorders (MPD) that cause dysregulated JAK-STAT signaling, which is implicated in MPD pathogenesis. We developed TG101209, an orally bioavailable small molecule that potently inhibits JAK2 (IC(50)=6 nM), FLT3 (IC(50)=25 nM) and RET (IC(50)=17 nM) kinases, with significantly less activity against other tyrosine kinases including JAK3 (IC(50)=169 nM). TG101209 inhibited growth of Ba/F3 cells expressing JAK2V617F or MPLW515L mutations with an IC(50) of approximately 200 nM. In a human JAK2V617F-expressing acute myeloid leukemia cell line, TG101209-induced cell cycle arrest and apoptosis, and inhibited phosphorylation of JAK2V617F, STAT5 and STAT3. Therapeutic efficacy of TG101209 was demonstrated in a nude mouse model. Furthermore, TG101209 suppressed growth of hematopoietic colonies from primary progenitor cells harboring JAK2V617F or MPL515 mutations.

  6. Cidadania, educação e responsabilidade social: falácias gastas em um discurso retórico?

    Directory of Open Access Journals (Sweden)

    Mark Sandro Sorprezo de Almeida

    2002-12-01

    Full Text Available The pressing questioning in the present work is established in the proposal of use of the words as instruments of changes, as foundations of the yearnings of a society in transition. The proposal of an educational work that unites the social responsibility to the citizenship demands clarity regarding the social political objectives that guides it, of the vision of world and the concepts of education, citizenship, man, world, knowledge, culture, among others. As to form this professional it consists of one of the educational quandaries and more, it is questioned existence of professionals of the education enabled to exert this formation. The proposal here in conjugating, citizenship, education and social responsibility, of a first analysis consists of the questioning of the rhetorical speech through the presentation of the concepts for then considering the use of such justinian codes as transforming instruments and proportioners. To educate, to form the responsible citizen I obtain and with the society, critic and asset, whichever the society of the future.O questionamento premente no presente trabalho funda-se na proposta de utilização dos vocábulos como instrumentos de mudanças, como alicerces dos anseios de uma sociedade em transição. A proposta de um trabalho educacional que alie a responsabilidade social à cidadania exige clareza a respeito dos objetivos sócio-políticos que a norteiam, da visão de mundo e dos conceitos de educação, cidadania, homem, mundo, conhecimento, cultura, entre outros. Como formar este profissional consiste em um dos dilemas educacionais e mais, questiona-se a existência de profissionais da educação capacitados para exercer esta formação. A proposta aqui em conjugar, cidadania, educação e responsabilidade social, em uma primeira análise consiste no questionamento do discurso retórico através da apresentação dos conceitos para então propor a utilização de tais institutos como instrumentos

  7. Tensiones retóricas y semánticas en ética de la investigación Rhetorical and semantic tensions in research ethics

    Directory of Open Access Journals (Sweden)

    Miguel Kottow

    2007-10-01

    Full Text Available Comienza en recientes años un movimiento de revisión que utiliza la retórica y las desarticulaciones semánticas para legitimar prácticas que tradicionalmente se rechazarían como transgresiones éticas. En la ética de investigación se valida el reclutamiento de personas incapaces de ejercer su autonomía y se propone la incorporación de individuos vulnerados en la investigación para satisfacer el bien común. Esta propuesta atenta contra normativas establecidas que prohíben preferir intereses sociales o científicos por encima de los individuales, utilizando arbitrariamente la idea del bien público, puesto que la mayoría de las investigaciones sirven a intereses particulares de orden corporativo. Se debilita las definiciones de coerción y explotación, justificando la inclusión de probandos carentes de competencia mental y legitimando prácticas que en el entendido usual de estos conceptos son francas transgresiones a la ética de investigación con seres humanos. Cada vez más proyectos de investigación son trasladados a Latinoamérica, haciendo necesario que nuestra bioética se mantenga alerta frente a los intentos de debilitar la protección de individuos y comunidades que participan en estudios patrocinados desde instituciones comerciales del Primer Mundo.In recent years, rhetorical and semantic disjunctions have been used to validate practices traditionally rejected as ethical transgressions. According to such research ethics, subjects unable to exercise their autonomy are freely recruited, and vulnerable individuals are incorporated into research that purportedly serves the common good. The suggestions violate established rules that prohibit placing social or scientific interests above individual needs. The common good is invoked arbitrarily, since most such research serves private corporate interests. The definitions of coercion and exploitation are weakened, thus allowing the inclusion of mentally compromised research

  8. Tecnología y marketing: el papel de la retórica comercial en el desarrollo de dispositivos de navegación

    Directory of Open Access Journals (Sweden)

    Mendonça, Pedro

    2012-02-01

    Full Text Available The present article aims to link technology and marketing in the process of imagination and concretization of functions for mobile navigation devices. It focuses on the performance of marketing and sales, as rhetorical agents, in the technical path of building the product. Empirically, it is a case study of a Portuguese company, NDrive, whose main innovation is the introduction of photographic images in these devices replacing traditional maps. Since we identify in the field of innovation a platform of relation between the two spheres of inquiry (technology and marketing, it is in the theoretical studies of innovation that we produce much of the analysis of the different emerging questions, many connected to the central issues of contemporary technological transformation.

    Este artículo pretende relacionar tecnología y marketing en los procesos de imaginación y desarrollo de funcionalidades en dispositivos de navegación móvil. Se centra en la actuación de los departamentos empresariales de marketing, y de los trabajadores comerciales en general, como agentes retóricos que tienen un papel clave en los caminos técnicos de construcción del producto. En términos empíricos, se trata de un estudio de caso a una empresa portuguesa, Ndrive, que tiene como innovación principal la introducción de imagen fotográfica en los dispositivos de navegación, en vez de los tradicionales mapas. El campo de la innovación que se identifica es una plataforma donde se relacionan los dos ámbitos en cuestión (tecnología y marketing. Por ello, se utiliza la esfera teórica de los estudios de innovación para abordar el análisis de las diferentes problemáticas que van surgiendo en el desarrollo final del producto, muchas de ellas ligadas a las cuestiones centrales de la transformación tecnológica contemporánea.

  9. Common Β- Thalassaemia Mutations in

    Directory of Open Access Journals (Sweden)

    P Azarfam

    2005-01-01

    Full Text Available Introduction: β –Thalassaemia was first explained by Thomas Cooly as Cooly’s anaemia in 1925. The β- thalassaemias are hereditary autosomal disorders with decreased or absent β-globin chain synthesis. The most common genetic defects in β-thalassaemias are caused by point mutations, micro deletions or insertions within the β-globin gene. Material and Methods: In this research , 142 blood samples (64 from childrens hospital of Tabriz , 15 samples from Shahid Gazi hospital of Tabriz , 18 from Urumia and 45 samples from Aliasghar hospital of Ardebil were taken from thalassaemic patients (who were previously diagnosed .Then 117 non-familial samples were selected . The DNA of the lymphocytes of blood samples was extracted by boiling and Proteinase K- SDS procedure, and mutations were detected by ARMS-PCR methods. Results: From the results obtained, eleven most common mutations,most of which were Mediterranean mutations were detected as follows; IVS-I-110(G-A, IVS-I-1(G-A ،IVS-I-5(G-C ,Frameshift Codon 44 (-C,( codon5(-CT,IVS-1-6(T-C, IVS-I-25(-25bp del ,Frameshift 8.9 (+G ,IVS-II-1(G-A ,Codon 39(C-T, Codon 30(G-C the mutations of the samples were defined. The results showed that Frameshift 8.9 (+G, IVS-I-110 (G-A ,IVS-II-I(G-A, IVS-I-5(G-C, IVS-I-1(G-A , Frameshift Codon 44(-C , codon5(-CT , IVS-1-6(T-C , IVS-I-25(-25bp del with a frequency of 29.9%, 25.47%,17.83%, 7.00%, 6.36% , 6.63% , 3.8% , 2.5% , 0.63% represented the most common mutations in North - west Iran. No mutations in Codon 39(C-T and Codon 30(G-C were detected. Cunclusion: The frequency of the same mutations in patients from North - West of Iran seems to be different as compared to other regions like Turkey, Pakistan, Lebanon and Fars province of Iran. The pattern of mutations in this region is more or less the same as in the Mediterranean region, but different from South west Asia and East Asia.

  10. SQSTM1 Mutations and Glaucoma.

    Directory of Open Access Journals (Sweden)

    Todd E Scheetz

    Full Text Available Glaucoma is the most common cause of irreversible blindness worldwide. One subset of glaucoma, normal tension glaucoma (NTG occurs in the absence of high intraocular pressure. Mutations in two genes, optineurin (OPTN and TANK binding kinase 1 (TBK1, cause familial NTG and have known roles in the catabolic cellular process autophagy. TKB1 encodes a kinase that phosphorylates OPTN, an autophagy receptor, which ultimately activates autophagy. The sequestosome (SQSTM1 gene also encodes an autophagy receptor and also is a target of TBK1 phosphorylation. Consequently, we hypothesized that mutations in SQSTM1 may also cause NTG. We tested this hypothesis by searching for glaucoma-causing mutations in a cohort of NTG patients (n = 308 and matched controls (n = 157 using Sanger sequencing. An additional 1098 population control samples were also analyzed using whole exome sequencing. A total of 17 non-synonymous mutations were detected which were not significantly skewed between cases and controls when analyzed separately, or as a group (p > 0.05. These data suggest that SQSTM1 mutations are not a common cause of NTG.

  11. Mutation breeding in Philippine fruits

    International Nuclear Information System (INIS)

    Espino, R.R.C.

    1987-09-01

    Studies were made to establish standard conditions for mutation induction by gamma-irradiation to be performed in combination with in-vitro culture for banana and citrus spp. Besides this, radio-sensitivity of seeds and/or plantlets of mango, sugar apple, soursop, lanzones and Jack fruit was investigated and primary observation on the occurrence of mutation was made. For the mutagenesis of banana shoot tip cultures, radio-sensitivity of plantlets derived from the culture as well as fresh-cultured shoots was examined and phenotypes indicative of mutation, such as chlorophyl streaking, slow growth, pigmentation and varied bunch orientation were recorded. Isozyme analysis for mutated protein structure was not conclusive. In the in-vitro culture of Citrus spp., seeds placed on fresh media as well as germinating seeds and two-leaf stage seedlings in test tubes were examined for their radio-sensitivity. Irradiated materials were propagated for further observation. In these two crops, basic methodology for mutation induction with combined use of in-vitro culture and gamma-irradiation was established. In mango, sugar apple, soursop, lanzones and Jack fruit, basic data on radiosensitivity were obtained. In mango, leaf abnormalities were observed after the treatment of scions

  12. Mutation in cultured mammalian cells

    International Nuclear Information System (INIS)

    Nakamura, N.; Okada, S.

    1982-01-01

    Mammalian cell cultures were exposed to gamma-rays at various dose rates. Dose-rate effects were observed in cultured somatic cells of the mouse for cell killing and mutations resistant to 6-thioguanine (TGsup(r)) and to methotrexate (MTXsup(r)). Linear quadratic model may be applied to cell killing and TGsup(r) mutations in some cases but can not explain the whole data. Results at low doses with far low dose-rate were not predictable from data at high doses with acute or chronic irradiation. Radioprotective effects of dimethyl sulfoxide were seen only after acute exposure but not after chronic one, suggesting that damages by indirect action of radiations may be potentially reparable by cells. TGsup(r) mutations seem to contain gross structural changes whereas MTXsup(r) ones may have smaller alterations. (Namekawa, K.)

  13. Thalassemia mutations in Gaziantep, Turkey

    African Journals Online (AJOL)

    STORAGESEVER

    2010-02-22

    Feb 22, 2010 ... Table 3. Frequency of β-thalassemia mutations in the Eastern Mediterranean. Mutation. This study Turkey Cyprus Greece Syria Palestine Bulgaria Azerbaijan Iran Iraq. IVS 1.110 (G>A). 29.1. 39.3. 79.7. 42.1. 24.1. 17.6. 24.2. 20.2. 4.8 1.9. IVS 2.1 (G>A). 12.3. 4.7. -. 3.3. 4.2. 2.9. -. -. 33.9 18.3. IVS 1.1 (G>A).

  14. Os regimentos das corporações dos ofícios mecânicos: O caso do Retábulo-mor da Sé de Lamego (1506-1511 do pintor português Vasco Fernandes

    Directory of Open Access Journals (Sweden)

    Joana Salgueiro

    2010-08-01

    Full Text Available O núcleo em estudo: Retábulo-mor da Sé de Lamego (1506-1511, obra de incontestável importância histórico-artística do pintor quinhentista Vasco Fernandes, “Grão Vasco”, é um conjunto valiosamente documentado pelo seu contrato de obra, que subsistiu até à actualidade. No entanto, sabe-se que muitas vezes os dados empiricamente percepcionados ou mesmo presentes nos actos notariais relativos à feitura do retábulo, por inúmeras razões, nem sempre correspondem na íntegra à realidade. O trabalho que se segue, tem como objectivo, cruzar o conhecimento técnico e material dos suportes destas pinturas, com os dados analisados nos regimentos das corporações dos ofícios mecânicos do trabalho das madeiras: carpinteiros, carpinteiros de marcenaria, marceneiros, entalhadores (e por comparação pintores; de modo a determinar, através das metodologias de examinação dos aprendizes dos ofícios, e restantes normativas, as técnicas e materiais de execução exigidas, no contexto histórico do período Renascentista português.

  15. Recursos pragmático-retóricos de las narrativas de queja para la construcción social de la identidad de mujeres desplazadas por la violencia política en Colombia

    Directory of Open Access Journals (Sweden)

    Yudi Herrera Núñez

    2015-12-01

    Full Text Available Las mujeres desplazadas por la violencia política en Colombia, no solo se enfrentan a este flagelo sino que además son expuestas a condiciones de precariedad y al estigma por las comunidades de ‘acogida’. Esta investigación pretendeidentificar los correlatos retórico-pragmáticos de los procesos narrativos de construcciónidentitaria, y del enfoque de posicionamiento interaccional de Bamberg (1997 en el contexto de la entrevista de investigación. La muestra está conformada por 17 entrevistas semi-estructuradas conformadas como relatos de experiencias personales vividas a luego del proceso de desplazamiento forzado. Los principales resultados, extraídos de nuestro estudio, destacan el uso de ‘narrativas de queja’ (Günthner (2007 como uno de los recursos preferidos que las narradoras emplean para construir su identidad. En estos relatos, el amplio despliegue de recursos narrativos, pragmáticos, retóricos y evaluativos pareciesen estar en función del objetivo interaccional de producir el alineamiento del interlocutor. En las narrativas de queja los recursosmás frecuentes son el discurso directo, el uso de presente histórico y diversos recursos evaluativos. Las narrativas se constituyen en los principales territorios donde los co-conversadores buscan y encuentran formas para mitigar el ‘problema interactivo’ y conforman una imagen de sí mismos de formas que sean interactivamente útiles.

  16. Case report of a KIT-mutated melanoma patient with an excellent response to apatinib and temozolomide combination therapy

    Directory of Open Access Journals (Sweden)

    Luo C

    2017-09-01

    Full Text Available Cong Luo,1 Jiayu Shen,2 Jieer Ying,1 Xianhua Fang,3 Xiaohong Wang,1 Zhixuan Fu,4 Peng Liu5 1Department of Abdominal Oncology, Zhejiang Cancer Hospital, 2The Second Clinical Medical College, Zhejiang Chinese Medical University, 3Department of Pathology, 4Department of Colorectal Surgery, 5Department of Radiotherapy, Zhejiang Cancer Hospital, Hangzhou, People’s Republic of China Abstract: Malignant melanoma is one kind of malignant disease which has high rates of mortality, metastasis, and poor prognosis. The therapeutic landscape is rapidly changing with the development of novel agents in recent decades, such as anti-PD-1 agents, anti-CTLA-4 agents, and BRAF inhibitors. However, since most of these novel agents are very expensive, not all patients can afford them. Apatinib is a novel oral small-molecule tyrosine kinase inhibitor targeting the intracellular domain of vascular endothelial growth factor receptor 2 (VEGFR-2 and may also be effective on Ret, c-KIT, and c-src. Temozolomide (TMZ is a second-generation alkylating agent and a cytotoxic drug for melanoma treatment. In this work, we reported a case of metastatic melanoma with an excellent response to apatinib/TMZ combination therapy with progression-free survival for more than one year. This patient showed high expression of CD117, VEGFR-3, and KIT mutation in exon 11, suggesting that apatinib may induce clinical response via inhibiting VEGFR and c-KIT. Apatinib/TMZ combination therapy could be a new option for the treatment of advanced melanoma with KIT mutation. Keywords: advanced melanoma, KIT mutation, apatinib, temozolomide, combination therapy

  17. Energy parasites trigger oncogene mutation

    Czech Academy of Sciences Publication Activity Database

    Pokorný, Jiří; Pokorný, Jan; Jandová, Anna; Kobilková, J.; Vrba, J.; Vrba, J. jr.

    2016-01-01

    Roč. 92, č. 10 (2016), s. 577-582 ISSN 0955-3002 R&D Projects: GA ČR GA16-12757S Institutional support: RVO:68378271 ; RVO:67985882 Keywords : cancer initiation * cell-mediated immunity * coherent electromagnetic states * genome somatic mutation * LDH virus * parasitic energy consumption Subject RIV: BO - Biophysics Impact factor: 1.992, year: 2016

  18. Induced mutation of Dendrobium orchid

    International Nuclear Information System (INIS)

    Sakinah Ariffin; Mohd Nazir Basiran

    2000-01-01

    Dendrobiiim orchids serve as the main orchid cut flower export of Malaysia. The wide range of colour and forms presently available in the market are obtained through hybridisation. Induced mutation breeding program was initiated on a commercial variety Dendrobium 'Sonia Kai' to explore the possibilities of obtaining new colour and forms. Matured seeds from self pollination were cultured and irradiated at 35 Gy at the protocorm-like bodies (PLBS) stage. Selection of induced mutations was done after the first flowering of the plants regenerated from the irradiated protocorms. Results showed changes in flower colour, shape and size. Most of these chances are expressed in different combinations in the petals, sepals and lip of the flowers. Thus, resulting. in a very wide spectrum of mutations. Some of these chances are not stable. To date, mutants that showed stable characteristics changes are grouped into 11 categories based on flower colour and form. These results show that the combination of its vitro technique and induced mutation can be applied in orchid breeding to produce new interesting and attractive variety for the market

  19. Mutational specificity of SOS mutagenesis

    International Nuclear Information System (INIS)

    Kato, Takeshi

    1986-01-01

    In an approach to the isolation of mutants of E. coli unable to produce mutations by ultraviolet light, the author has found new umuC-mutants. Their properties could be explained by ''SOS hypothesis of Radman and Witkin'', which has now been justified by many investigators. Analysis of the umuC region of E. coli chromosome cloned in pSK 100 has led to the conclusion that two genes, umuD and umuC, having the capacity of mutation induction express in the same mechanism as that of SOS genes, which is known to be inhibited by LexA protein bonding to ''SOS box'' found at promotor region. Suppressor analysis for mutational specificity has revealed: (i) umuDC-independent mutagens, such as EMS and (oh) 4 Cy, induce selected base substitution alone; and (ii) umuDC-dependent mutagens, such as X-rays and gamma-rays, induce various types of base substitution simultaneously, although they have mutational specificity. In the umuDC-dependent processes of basechange mutagenesis, the spectra of base substitution were a mixture of base substitution reflecting the specific base damages induced by individual mutagens and nonspecific base substitution. In conclusion, base substitution plays the most important role in umuDC-dependent mutagenesis, although mutagenesis of umuDC proteins remains uncertain. (Namekawa, K.)

  20. Mutated genes as research tool

    International Nuclear Information System (INIS)

    1981-01-01

    Green plants are the ultimate source of all resources required for man's life, his food, his clothes, and almost all his energy requirements. Primitive prehistoric man could live from the abundance of nature surrounding him. Man today, dominating nature in terms of numbers and exploiting its limited resources, cannot exist without employing his intelligence to direct natural evolution. Plant sciences, therefore, are not a matter of curiosity but an essential requirement. From such considerations, the IAEA and FAO jointly organized a symposium to assess the value of mutation research for various kinds of plant science, which directly or indirectly might contribute to sustaining and improving crop production. The benefit through developing better cultivars that plant breeders can derive from using the additional genetic resources resulting from mutation induction has been assessed before at other FAO/IAEA meetings (Rome 1964, Pullman 1969, Ban 1974, Ibadan 1978) and is also monitored in the Mutation Breeding Newsletter, published by IAEA twice a year. Several hundred plant cultivars which carry economically important characters because their genes have been altered by ionizing radiation or other mutagens, are grown by farmers and horticulturists in many parts of the world. But the benefit derived from such mutant varieties is without any doubt surpassed by the contribution which mutation research has made towards the advancement of genetics. For this reason, a major part of the papers and discussions at the symposium dealt with the role induced-mutation research played in providing insight into gene action and gene interaction, the organization of genes in plant chromosomes in view of homology and homoeology, the evolutionary role of gene duplication and polyploidy, the relevance of gene blocks, the possibilities for chromosome engineering, the functioning of cytroplasmic inheritance and the genetic dynamics of populations. In discussing the evolutionary role of

  1. Radiation-induced mutation at minisatellite loci

    International Nuclear Information System (INIS)

    Dubrova, Y.E.; Nesterov, V.N.; Krouchinsky, N.G.

    1997-01-01

    We are studying the radiation-induced increase of mutation rate in minisatellite loci in mice and humans. Minisatellite mutations were scored by multilocus DNA fingerprint analysis in the progeny of γ-irradiated and non-irradiated mice. The frequency of mutation in offspring of irradiated males was 1.7 higher that in the control group. Germline mutation at human minisatellite loci was studied among children born in heavily polluted areas of the Mogilev district of Belarus after the Chernobyl accident and in a control population. The frequency of mutation assayed both by DNA fingerprinting and by eight single locus probes was found to be two times higher in the exposed families than in the control group. Furthermore, mutation rate was correlated with the parental radiation dose for chronic exposure 137 Cs, consistent with radiation-induction of germline mutation. The potential use of minisatellites in monitoring germline mutation in humans will be discussed

  2. Recurrent LDL-receptor mutation causes familial ...

    African Journals Online (AJOL)

    1995-05-05

    May 5, 1995 ... 3. eaudet . New. Recurrent LDL-receptor mutation causes familial hypercholesterolaemia in ... amplification refractory mutation system (ARMS)" and single- strand conformation .... Location. Afrikaner. Mixed race. ApaLl.

  3. Manual on mutation breeding. 2. ed.

    International Nuclear Information System (INIS)

    1977-01-01

    The manual is a compilation of work done on the use of induced mutations in plant breeding, and presents general methods and techniques in this field. The use of chemical mutagens and ionizing radiations (X-rays, gamma rays, α- and β-particles, protons, neutrons) are described as well as the effects of these mutagens. The different types of mutations achieved can be divided into genome mutations, chromosome mutations and extra nuclear mutations. Separate chapters deal with mutation techniques in breeding seed-propagated species and asexually propagated plants (examples of development of cultivars given). Plant characters which can be improved by mutation breeding include yield, ripening time, growth habit, disease resistance and tolerance to environmental factors (temperature, salinity etc.). The use of mutagens for some specific plant breeding problems is discussed and attention is also paid to somatic cell genetics in connection with induced mutations. The manual contains a comprehensive bibliography (60 p. references) and a subject index

  4. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-01-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution. PMID:9560365

  5. Adaptive mutation: has the unicorn landed?

    Science.gov (United States)

    Foster, P L

    1998-04-01

    Reversion of an episomal Lac- allele during lactose selection has been studied as a model for adaptive mutation. Although recent results show that the mutations that arise during selection are not "adaptive" in the original sense, the mutagenic mechanism that produces these mutations may nonetheless be of evolutionary significance. In addition, a transient mutational state induced in a subpopulation of starving cells could provide a species with a mechanism for adaptive evolution.

  6. Urinary Tract Effects of HPSE2 Mutations

    OpenAIRE

    Stuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M

    2015-01-01

    Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurog...

  7. Haploid rice plants in mutation studies

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, S [Institute of Radiation Breeding, Ministry of Agriculture and Forestry, Ohmiya, Ibaraki-ken (Japan)

    1970-03-01

    Studies were made on chlorophyll-deficient sectors and diploid-like sectors in haploid rice plants exposed to chronic gamma irradiation, and on germinal mutations in diploid strains derived from the haploid plants. The induction and elimination of somatic mutations in haploid plants and the occurrence of drastic germinal mutations in diploid strains from haploid plants are discussed. (author)

  8. Studies of human mutation rates: Progress report

    International Nuclear Information System (INIS)

    Neel, J.V.

    1988-01-01

    Progress was recorded between January 1 and July 1, 1987 on a project entitled ''Studies of Human Mutation Rates''. Studies underway include methodology for studying mutation at the DNA level, algorithms for automated analyses of two-dimensional polyacrylamide DNA gels, theoretical and applied population genetics, and studies of mutation frequency in A-bomb survivors

  9. Mitochondrial mutations drive prostate cancer aggression

    DEFF Research Database (Denmark)

    Hopkins, Julia F.; Sabelnykova, Veronica Y.; Weischenfeldt, Joachim

    2017-01-01

    Nuclear mutations are well known to drive tumor incidence, aggression and response to therapy. By contrast, the frequency and roles of mutations in the maternally inherited mitochondrial genome are poorly understood. Here we sequence the mitochondrial genomes of 384 localized prostate cancer...... in prostate cancer, and suggest interplay between nuclear and mitochondrial mutational profiles in prostate cancer....

  10. La e-migración: un nuevo espacio para pensar la retórica de la integración en las políticas migratorias

    Directory of Open Access Journals (Sweden)

    Mauricio Nihil Olivera Cajiga

    2013-01-01

    Full Text Available Este artículo, basado en un estudio comparativo de migrantes franceses y ecuatorianos en Barcelona, discute la retórica de la integración en las políticas migratorias dentro del contexto de las tecnologías de la información y la comunica­ción (TIC. Los resultados que se presentan permiten problematizar las relaciones de los migrantes en Barcelona a partir de sus prácticas sociales en las TICs, así como también plantear la existencia de unas características tecnológicas, geográficas y sociales (TGS que crean un nuevo espacio que llamamos e-migración. Se argumenta en este artículo que el discurso de la integración y las TICs, que forma parte de la retórica de las administraciones de gobierno catalana, ocultan desigualdades estructurales entre los migrantes comunitarios y no comunitarios. El estudio de caso de franceses y ecuatorianos migrantes en Cataluña es una muestra de cómo se gestiona la diversidad en clave cultura para categorizar a determinadas poblaciones y no para integrarlas. Palabras clave: integración, política, e-migración, ecuatorianos, franceses, TIC, Barcelona, retórica.   E-migration: a new space to think the rhetoric of integration in migration policies  Abstract This article, based on a comparative study of French and Ecuadorian migrants in Barcelona, discusses the rhetoric of integration in migration policies within the context of information and communication technologies (ICT. The results presented allow to question the relationship of migrants in Barcelona taking into account their ICT social practices, as well as propose the existence of technological, geographical and social (TGS characteristics to create a new space we call e-migration. It is argued in this article that the discourse of integration and ICT, which is part of the rhetoric of the Catalan government administrations, hides structural inequalities between migrants from EU and outside of the EU. The case study of French and Ecuadorian

  11. Radiation induced chlorophyll mutations in rice

    International Nuclear Information System (INIS)

    Bari, G.; Mustafa, G.; Soomro, A.M.; Baloch, A.W.

    1985-01-01

    Air dried grains of four local varieties of rice were treated with gamma-rays and fast neutrons for determining their mutagenic effectiveness through the occurence of chlorophyll mutations. Fast neutrons were more effective in inducing chlorophyll mutations and the rice variety Basmati 370 produced maximum number of mutations followed by varieties Sonahri Sugdasi, Jajai 77 and Sada Gulab. The highest frequency of chlorophyll mutations was that of albina types followed by striata types. The xantha, viridis and tigrina types of mutations were less frequent. (authors)

  12. Mutation Clusters from Cancer Exome.

    Science.gov (United States)

    Kakushadze, Zura; Yu, Willie

    2017-08-15

    We apply our statistically deterministic machine learning/clustering algorithm *K-means (recently developed in https://ssrn.com/abstract=2908286) to 10,656 published exome samples for 32 cancer types. A majority of cancer types exhibit a mutation clustering structure. Our results are in-sample stable. They are also out-of-sample stable when applied to 1389 published genome samples across 14 cancer types. In contrast, we find in- and out-of-sample instabilities in cancer signatures extracted from exome samples via nonnegative matrix factorization (NMF), a computationally-costly and non-deterministic method. Extracting stable mutation structures from exome data could have important implications for speed and cost, which are critical for early-stage cancer diagnostics, such as novel blood-test methods currently in development.

  13. Gene mutations in hepatocellular adenomas

    DEFF Research Database (Denmark)

    Raft, Marie B; Jørgensen, Ernö N; Vainer, Ben

    2015-01-01

    is associated with bi-allelic mutations in the TCF1 gene and morphologically has marked steatosis. β-catenin activating HCA has increased activity of the Wnt/β-catenin pathway and is associated with possible malignant transformation. Inflammatory HCA is characterized by an oncogene-induced inflammation due...... to alterations in the Janus kinase/signal transducer and activator of transcription (JAK/STAT) pathway. In the diagnostic setting, sub classification of HCA is based primarily on immunohistochemical analyzes, and has had an increasing impact on choice of treatment and individual prognostic assessment....... This review offers an overview of the reported gene mutations associated with hepatocellular adenomas together with a discussion of the diagnostic and prognostic value....

  14. Mutation breeding newsletter. No. 41

    International Nuclear Information System (INIS)

    1994-07-01

    This newsletter contains short descriptions of research methods for the use of radiation to induce mutations and facilitate plant breeding. This method is used to develop species of plants that can survive in harsh climates and thus provide a food supply for humans and animals. Some of the mutants discussed include a salt tolerant barley, a disease resistant shrub, a cold tolerant chickpea, a highly productive Canavalia virosa and productive tomato. Refs, figs and tabs

  15. The condensed mutation in sunflower

    International Nuclear Information System (INIS)

    Leclercq, P.

    1978-01-01

    Three inbred lines of sunflower were treated with gamma rays. In the progeny of one of these lines, the desired dwarf mutation appeared with a high frequency (23%). The dwarfing was accompanied by various undesirable characteristics (lateness, poor seed production, etc.), for which correction through genetic diversification and selection is in progress. The ratio capitulum diameter/stem height has increased from 1/8 up to 1/3 [fr

  16. Rare beneficial mutations can halt Muller's ratchet

    Science.gov (United States)

    Balick, Daniel; Goyal, Sidhartha; Jerison, Elizabeth; Neher, Richard; Shraiman, Boris; Desai, Michael

    2012-02-01

    In viral, bacterial, and other asexual populations, the vast majority of non-neutral mutations are deleterious. This motivates the application of models without beneficial mutations. Here we show that the presence of surprisingly few compensatory mutations halts fitness decay in these models. Production of deleterious mutations is balanced by purifying selection, stabilizing the fitness distribution. However, stochastic vanishing of fitness classes can lead to slow fitness decay (i.e. Muller's ratchet). For weakly deleterious mutations, production overwhelms purification, rapidly decreasing population fitness. We show that when beneficial mutations are introduced, a stable steady state emerges in the form of a dynamic mutation-selection balance. We argue this state is generic for all mutation rates and population sizes, and is reached as an end state as genomes become saturated by either beneficial or deleterious mutations. Assuming all mutations have the same magnitude selective effect, we calculate the fraction of beneficial mutations necessary to maintain the dynamic balance. This may explain the unexpected maintenance of asexual genomes, as in mitochondria, in the presence of selection. This will affect in the statistics of genetic diversity in these populations.

  17. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTAcontaining venous ...

  18. Rare and unexpected beta thalassemic mutations in Qazvin ...

    African Journals Online (AJOL)

    STORAGESEVER

    2010-01-04

    Jan 4, 2010 ... About 13 beta-globin mutations encompass 70 - 90% of mutation spectrum in Iran. These mutations are called common beta-globin mutations. The rest are rare or unknown mutations. The objective of this study was to identify and describe rare or unknown beta-globin mutations in Qazvin province. EDTA-.

  19. Mutation breeding in vegetable crops

    International Nuclear Information System (INIS)

    Yamaguchi, Takashi

    1984-01-01

    Vegetables breed by seeds and vegetative organs. In main vegetables, the differentiation of clopping types, the adoption of monoculture and year-round production and shipment are carried out, adapting to various socio-economic and cultivation conditions. Protected agriculture has advanced mainly for fruit vegetables, and the seeds for sale have become almost hybrid varieties. Reflecting the situation like this, the demand for breeding is diversified and characteristic, and the case of applying mutation breeding seems to be many. The present status of the mutation breeding of vegetables is not yet well under way, but about 40 raised varieties have been published in the world. The characters introduced by induced mutation and irradiation were compact form, harvesting aptitude, the forms and properties of stems and leaves, anti-lodging property, the size, form and uniformity of fruits, male sterility and so on. The radiation sources used were mostly gamma ray or X-ray, but sometimes, combined irradiation was used. As the results obtained in Japan, burdocks as an example of gamma ray irradiation to seeds, tomatoes as an example of inducing the compound resistance against disease injury and lettuces as an example of internal beta irradiation are reported. (Kako, I.)

  20. Mutation Breeding for Crop Improvement

    International Nuclear Information System (INIS)

    Rajbir, S. Sangwan

    2017-01-01

    Chromosomes contain genes responsible of different traits of any organism. Induced mutation using chemical mutagens and radiation to modify molecular structure of plants played a major role in the development of high genetic variability and help develop new superior crop varieties. The Mutation Breeding is applicable to all plants and has generated lot of agronomically interesting mutants, both in vegetatively and seed propagated plants. The technique is easy but long and challenging to detect, isolate and characterize the mutant and gene. A specific dose of irradiation has to be used to obtain desired mutants. However, with modern molecular technique, the gene responsible for mutation can be identified. The CRISPR-Cas9 allows the removal of a specific gene which is responsible of unwanted trait and replacing it with a gene which induces a desired trait. There have been more than 2700 officially released mutant varieties from 170 different plant species in more than 60 countries throughout the world and A more participatory approach, involving all stakeholders in plant breeding, is needed to ensure that it is demand/farmers driven.

  1. Induced mutations in sesame breeding

    International Nuclear Information System (INIS)

    Ashri, A.

    2001-01-01

    The scope of induced mutations in sesame (Sesamum indicum L.) breeding is reviewed. So far in Egypt, India, Iraq, Rep. of Korea, and Sri Lanka, 14 officially released varieties have been developed through induced mutations: 12 directly and 2 through cross breeding (one using the 'dt45' induced mutant from Israel). For another variety released in China there are no details. The induced mutations approach was adopted primarily in order to obtain genetic variability that was not available in the germplasm collection. The mutagens commonly applied have been gamma rays, EMS and sodium azide. Sesame seeds can withstand high mutagen doses, and there are genotypic differences in sensitivity between varieties. The mutants induced in the above named countries and others include better yield, improved seed retention, determinate habit, modified plant architecture and size, more uniform and shorter maturation period, earliness, resistance to diseases, genic male sterility, seed coat color, higher oil content and modified fatty acids composition. Some of the induced mutants have already given rise to improved varieties, the breeding value of other mutants is now being assessed and still others can serve as useful markers in genetic studies and breeding programmes. (author)

  2. Germline APC mutations in hepatoblastoma.

    Science.gov (United States)

    Yang, Adeline; Sisson, Rebecca; Gupta, Anita; Tiao, Greg; Geller, James I

    2018-04-01

    Conflicting reports on the frequency of germline adenomatous polyposis coli (APC) gene mutations in patients with hepatoblastoma (HB) have called into question the clinical value of APC mutation testing on apparently sporadic HB. An Institutional Review Board approved retrospective review of clinical data collected from patients with HB who received APC testing at our institution was conducted. All HB patients seen at Cincinnati Children's Hospital Medical Center were eligible for testing. Potential genotype/phenotype correlations were assessed. As of July 2015, 29 patients with HB had received constitutional APC testing. Four (14%) were found to have APC pathogenic truncations of the APC protein and in addition two (7%) had APC missense variants of unknown clinical significance. Two patients (7%) had family histories indicative of familial adenomatous polyposis (FAP). Response to chemotherapy tracked differently in APC pathogenic cases, with a slower imaging response despite an equivalent or slightly faster α-fetoprotein (AFP) response. The prevalence of pathogenic APC variants in apparently sporadic HB may be higher than previously detected. Differences in time to imaging response, despite similar AFP response, may impact surgical planning. All patients with HB warrant germline APC mutation testing for underlying FAP. © 2017 Wiley Periodicals, Inc.

  3. Mutation induction by ion beams in plants

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Atsushi [Japan Atomic Energy Research Inst., Takasaki, Gunma (Japan). Takasaki Radiation Chemistry Research Establishment

    2001-03-01

    The effect of ion beams such as C, He, and Ne ions was investigated on the mutation induction in plants with the expectation that ion beams of high linear energy transfer (LET) can frequently produce large DNA alternation such as inversion, translocation and large deletion rather than point mutation. Mutation frequency was investigated using Arabidopsis visible phenotype loci and was 8 to 33 fold higher for 220 MeV carbon ions than for electrons. Mutation spectrum was investigated on the flower color of chrysanthemum cv to find that flower mutants induced by ion beams show complex and stripe types rather than single color. Polymerase chain reaction analysis was performed to investigate DNA alteration of mutations. In conclusion, the characteristics of ion beams for the mutation induction are 1) high frequency, 2) broad mutation spectrum, and 3) novel mutants. (S. Ohno)

  4. Mutation induction by ion beams in plants

    International Nuclear Information System (INIS)

    Tanaka, Atsushi

    2001-01-01

    The effect of ion beams such as C, He, and Ne ions was investigated on the mutation induction in plants with the expectation that ion beams of high linear energy transfer (LET) can frequently produce large DNA alternation such as inversion, translocation and large deletion rather than point mutation. Mutation frequency was investigated using Arabidopsis visible phenotype loci and was 8 to 33 fold higher for 220 MeV carbon ions than for electrons. Mutation spectrum was investigated on the flower color of chrysanthemum cv to find that flower mutants induced by ion beams show complex and stripe types rather than single color. Polymerase chain reaction analysis was performed to investigate DNA alteration of mutations. In conclusion, the characteristics of ion beams for the mutation induction are 1) high frequency, 2) broad mutation spectrum, and 3) novel mutants. (S. Ohno)

  5. Unilateral follicular variant of papillary thyroid carcinoma with unique KRAS mutation in struma ovarii in bilateral ovarian teratoma: a rare case report

    Directory of Open Access Journals (Sweden)

    Stanojevic Boban

    2012-06-01

    Full Text Available Abstract Background Struma ovarii (SO is a rare form of ovarian mature teratoma in which thyroid tissue is the predominant element. Because of its rarity, the differential diagnosis between benign and malignant SO has not been clearly defined. It is believed that malignant transformation of SO has similar molecular features with and its prognosis corresponds to that of malignant tumors originating in the thyroid. Case presentation We report 35-year-old woman with bilateral ovarian cysts incidentally detected by ultrasound during the first trimester of pregnancy. Four months after delivery of a healthy child without complication she was admitted to the hospital for acute abdominal pain. Laparoscopic left adnexectomy was performed initially in a regional hospital; right cystectomy was done later in a specialized clinic. Intraoperative frozen section and a final pathology revealed that the cyst from the left ovary was composed of mature teratomatous elements, normal thyroid tissue (>50% and a non-encapsulated focus of follicular variant of papillary thyroid carcinoma (PTC. Normal and cancerous thyroid tissues were tested for BRAF and RAS mutations by direct sequencing, and for RET/PTC rearrangements by RT-PCR/Southern blotting. A KRAS codon 12 mutation, the GGT → GTT transversion, corresponding to the Gly → Val amino acid change was identified in the absence of other genetic alterations commonly found in PTC. Conclusion To the best of our knowledge, this is the first time this mutation is described in a papillary thyroid carcinoma arising in struma in the ovarii. This finding provides further evidence that even rare mutations specific for PTC may occur in such tumors. Molecular testing may be a useful adjunct to common differential diagnostic methods of thyroid malignancy in SO.

  6. Retórica e poder: o paratexto prefacial de autoria feminina no Brasil do século XIX = Rhetoric and power: the feminine prefacial paratext in Brazil in the nineteen century

    Directory of Open Access Journals (Sweden)

    Tabak, Fani Miranda

    2014-01-01

    Full Text Available Neste trabalho, voltamos nosso olhar para paratextos prefaciais produzidos por autoras oitocentistas, considerando a importância dos mesmos para o estudo e o resgate de obras praticamente esquecidas dentro da tradição historiográfica. Ao ampliarmos o conceito de transtextualidade, desenvolvido por Gérard Genette, tornamos evidente a paratextualidade como fenômeno de provocação frente a uma situação periférica no discurso produzido por escritoras. A quebra dos padrões retóricos da captatio benevolentiae, bem como a tentativa de readequação do prefácio a um possível público habituado às normas vigentes, torna o paratexto um elemento importante a ser considerado na própria compreensão do posicionamento autoral feminino

  7. Configuraciones retórico-lingüísticas del resumen en artículos científicos de economía: Contrastes en el interior de la disciplina

    OpenAIRE

    Stagnaro, Daniela

    2015-01-01

    En las últimas décadas, la lingüística especializada ha contribuido al conocimiento del discurso académico-científico, especialmente, de las características lingüístico- retóricas de géneros centrales de la comunicación científica. Entre ellos, el artículo científico y su resumen han recibido amplia atención por su centralidad en el proceso de investigación. Sin embargo, la bibliografía tiende a tratar el discurso de cada disciplina de manera homogénea sin considerar las ramas o los posiciona...

  8. La resurrección retórica de la República en 1890: Un análisis sobre las relaciones entre elocuencia, oratoria y política en la Argentina a fines del siglo XIX

    Directory of Open Access Journals (Sweden)

    Leonardo D. Hirsch

    Full Text Available El trabajo tiene como objetivo hacer un análisis de las relaciones entre retórica, oratoria y política en la Argentina, a lo largo del siglo XIX, en general, y durante la crisis de 1890, en particular. En este sentido creemos que en la particular coyuntura de 1890 se temió sobre todo por la desintegración del cuerpo político de la República como consecuencia de la creciente indiferencia de los ciudadanos por la cosa pública. Los Cívicos, en consecuencia, decidieron emprender una "campaña de regeneración", fundada sobre la creencia en el "poder soberano de la palabra", y en la legitimidad que otorgaba la elocuencia de sus oradores, para transformar los hábitos políticos.

  9. Nuevos mecanismos de regulación del balance energético. Papel de AMPK y del estrés del retículo endoplasmático hipotalámico

    OpenAIRE

    Seoane Collazo, Patricia

    2018-01-01

    AMPK es un sensor celular que se activa en estado de baja energía. Las evidencias actuales vinculan la AMPK hipotalámica con la regulación central del balance energético. Sin embargo, cual es la isoforma de AMPK y el tipo neuronal que está mediando estos efectos todavía no se ha dilucidado. En esta Tesis, demostramos que la inhibición de AMPKα1 en las neuronas SF1 del núcleo ventromedial del hipotálamo protege contra la obesidad inducida por dieta al disminuir el estrés del retículo endoplasm...

  10. Detection of Gene Rearrangements in Circulating Tumor Cells: Examples of ALK-, ROS1-, RET-Rearrangements in Non-Small-Cell Lung Cancer and ERG-Rearrangements in Prostate Cancer.

    Science.gov (United States)

    Catelain, Cyril; Pailler, Emma; Oulhen, Marianne; Faugeroux, Vincent; Pommier, Anne-Laure; Farace, Françoise

    2017-01-01

    Circulating tumor cells (CTCs) hold promise as biomarkers to aid in patient treatment stratification and disease monitoring. Because the number of cells is a critical parameter for exploiting CTCs for predictive biomarker's detection, we developed a FISH (fluorescent in situ hybridization) method for CTCs enriched on filters (filter-adapted FISH [FA-FISH]) that was optimized for high cell recovery. To increase the feasibility and reliability of the analyses, we combined fluorescent staining and FA-FISH and developed a semi-automated microscopy method for optimal FISH signal identification in filtration-enriched CTCs . Here we present these methods and their use for the detection and characterization of ALK-, ROS1-, RET-rearrangement in CTCs from non-small-cell lung cancer and ERG-rearrangements in CTCs from prostate cancer patients.

  11. Teoría retórica como teoría del texto y narración digital como narración hipertextual: perspectivas de estudio entre la tradición y la modernidad

    OpenAIRE

    Chico Rico, Francisco

    2007-01-01

    El principal objetivo de este estudio es el de cubrir un capítulo que cada vez se hace más necesario en cualquier foro de debate sobre las tecnologías de la creación en la era digital: el relativo a la consideración de la llamada "hiperficción" o, para hablar con propiedad, "narración hipertextual" —como narración literaria de linealidad no fijada y comunicada a través de la pantalla de un ordenador— desde la perspectiva teórico-metodológica del sistema retórico, entendido como teoría del tex...

  12. Dano moral: análise de argumentos decisórios em acórdão trabalhista sob a ótica da Nova Retórica

    Directory of Open Access Journals (Sweden)

    Barbara Bedin

    2013-05-01

    Full Text Available Neste trabalho objetivou-se analisar os argumentos valorados por desembargadores para formar o entendimento do significado de dano moral – que equivale a um fenômeno jurídico passível de ser indenizado. Para alcançar tal objetivo, examinou-se, em um estudo exploratório, o acórdão n. 0000192-11.2011.5.04.0001, proferido pela Quarta Turma do Tribunal Regional do Trabalho da Quarta Região (Rio Grande do Sul, Brasil, que trata de uma indenização por dano moral. Os argumentos foram levantados e analisados sob a ótica da Nova Retórica de Perelman e Olbrecht-Tyteca.

  13. A ironia na literatura canadense: uma estratégia retórica e estrutural exibindo dissonâncias e diferenças = The irony in Canadian literature: a rhetorical and structural strategy displaying differences and dissonance

    Directory of Open Access Journals (Sweden)

    Klondy Lúcia de Oliveira Agra

    2012-01-01

    Full Text Available Neste artigo, observo, com base na literatura canadense, os sentidos dados à ironia utilizada como estratégia retórica e estrutural. A partir da pesquisa bibliográfica, procuro por esclarecimentos sobre a característica da ironia canadense, sua forma e seu foco específico com apoio das teorias crítica, pós-moderna e pós-colonial.In this article, the result of study about Canadian literature, I observe the use of the irony as a rhetorical and structural strategic. From the bibliographical research, I look for clarification on the characteristic of Canadian irony, its form and its specific focus with support from critical theory, postmodern and post-colonial.

  14. Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

    Science.gov (United States)

    Fedyna, Alison; Drayna, Dennis; Kang, Changsoo

    2010-01-01

    Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals carrying this mutation were analyzed in an effort to distinguish whether these arise from repeated mutation at the same site, or whether they represent a founder mutation with a single origin. Results show that all 12 chromosomes carrying this mutation share a common haplotype in this region, indicating it is a founder mutation. Further analysis estimated the age of this allele to be ~572 generations. Construction of a cladogram tracing the mutation through our study sample also supports the founder mutation hypothesis. PMID:20944643

  15. Predictable Phenotypes of Antibiotic Resistance Mutations.

    Science.gov (United States)

    Knopp, M; Andersson, D I

    2018-05-15

    Antibiotic-resistant bacteria represent a major threat to our ability to treat bacterial infections. Two factors that determine the evolutionary success of antibiotic resistance mutations are their impact on resistance level and the fitness cost. Recent studies suggest that resistance mutations commonly show epistatic interactions, which would complicate predictions of their stability in bacterial populations. We analyzed 13 different chromosomal resistance mutations and 10 host strains of Salmonella enterica and Escherichia coli to address two main questions. (i) Are there epistatic interactions between different chromosomal resistance mutations? (ii) How does the strain background and genetic distance influence the effect of chromosomal resistance mutations on resistance and fitness? Our results show that the effects of combined resistance mutations on resistance and fitness are largely predictable and that epistasis remains rare even when up to four mutations were combined. Furthermore, a majority of the mutations, especially target alteration mutations, demonstrate strain-independent phenotypes across different species. This study extends our understanding of epistasis among resistance mutations and shows that interactions between different resistance mutations are often predictable from the characteristics of the individual mutations. IMPORTANCE The spread of antibiotic-resistant bacteria imposes an urgent threat to public health. The ability to forecast the evolutionary success of resistant mutants would help to combat dissemination of antibiotic resistance. Previous studies have shown that the phenotypic effects (fitness and resistance level) of resistance mutations can vary substantially depending on the genetic context in which they occur. We conducted a broad screen using many different resistance mutations and host strains to identify potential epistatic interactions between various types of resistance mutations and to determine the effect of strain

  16. MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders.

    Science.gov (United States)

    Ma, Wanlong; Zhang, Xi; Wang, Xiuqiang; Zhang, Zhong; Yeh, Chen-Hsiung; Uyeji, Jennifer; Albitar, Maher

    2011-03-01

    Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs. A total of 2790 patient samples submitted for JAK2 mutation analysis were tested using real-time polymerase chain reaction and bidirectional sequencing of plasma RNA. JAK2 V617F-negative samples were tested for JAK2 exons 12 to 14 mutations, and those with negative results were then tested for mutations in MPL exons 10 and 11. Of the 2790 patients, 529 (18.96%) had V617F, 12 (0.43%) had small insertions or deletions in exon 12, and 7 (0.25%) had other JAK2 mutations in exons 12 to 14. Of the 2242 JAK2 mutation-negative patients, 68 (3.03%) had MPL mutations. W515L was the predominant MPL mutation (n=46; 68%), and 10 (15%) patients had other W515 variants. The remaining MPL mutations (n=12, 17%) were detected at other locations in exons 10 and 11 and included 3 insertion/deletion mutations. The S505N mutation, associated with familial MPD, was detected in 3 patients. Overall, for every 100 V617F mutations in patients with suspected MPDs, there were 12.9 MPL mutations, 2.3 JAK2 exon 12 mutations, and 1.3 JAK2 exons 13 to 14 mutations. These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 testing in JAK2 V617F-negative patients with suspected MPDs.

  17. Calreticulin Mutations in Bulgarian MPN Patients.

    Science.gov (United States)

    Pavlov, Ivan; Hadjiev, Evgueniy; Alaikov, Tzvetan; Spassova, Sylva; Stoimenov, Angel; Naumova, Elissaveta; Shivarov, Velizar; Ivanova, Milena

    2018-01-01

    Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). We applied four molecular genetic methods for identification of CALR exon 9 mutations, including high resolution melt (HRM) analysis, Sanger sequencing, semiconductor target genes sequencing and whole exome sequencing. A total of 78 patients with myeloid malignancies were included in the study. We identified 14 CALR exon 9 mutated cases out of 78 studied patients with myeloid malignancies. All mutated patients were diagnosed with MPN being either PMF (n = 7) or ET (n = 7). Nine cases had type 1 mutations and 5 cases had type 2 mutations. CALR exon 9, MPL exon 10 and JAK2 p. V617F were mutually exclusive. There were no statistically significant differences in the hematological parameters between the cases with CALR and JAK2 or MPL mutations. Notably, all four techniques were fully concordant in the detection of CALR mutations. This is one of the few reports on the CALR mutations frequency in South-eastern populations. Our study shows that the frequency and patterns of these mutations is identical to those in the patients' cohorts from Western countries. Besides we demonstrated the utility of four different methods for their detection.

  18. Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

    Science.gov (United States)

    Atik, Tahir; Aykut, Ayca; Hazan, Filiz; Onay, Huseyin; Goksen, Damla; Darcan, Sukran; Tukun, Ajlan; Ozkinay, Ferda

    2016-06-01

    To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations. In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were analyzed. Thirteen different PTPN11 mutations, two of them being novel, were detected in the study group. These mutations included eleven missense mutations: p.G60A, p.D61N, p.Y62D, p.Y63C, p.E69Q, p.Q79R, p.Y279C,p.N308D, p.N308S, p.M504V, p.Q510R and two novel missense mutations: p.I56V and p.I282M. The frequency of cardiac abnormalities and short stature were found to be 80 % and 80 %, respectively. Mental retardation was not observed in patients having exon 8 mutations. No significant correlations were detected between other phenotypic features and genotypes. By identifying genotype-phenotype correlations, this study provides information on phenotypes observed in NS patients with different PTPN11 mutations.

  19. Induced Mutations in Thai Rice

    International Nuclear Information System (INIS)

    Klakhaeng, Kanchana

    2014-01-01

    Rice is the primary source of food for more than half of the world's population. It benefits greatly from technological inputs in the area of breeding such as induced mutation. Induced mutation can produce mutants with significant improvement in plant type, maturity, yields and protein ratio when compared to the parent. These improved traits enable the mutants to fit into farming systems with either shorter or longer growing seasons. Three induced mutant rice varieties, including RD6, RD10 and RD15, are well accepted by farmers and consumers in Thailand. RD6 and RD15 were aromatic, photosensitive varieties which were derived from KDML105 by acute irradiation of 20 and 15 kilorad gamma ray, respectively. After induced mutation, pedigree selection was applied. RD6 showed drought tolerance and also good grain quality including softness and good aroma with a higher average yield than the famous glutinous variety, San-Pah-Tong. Additionally, it was resistant to blast and brown spot diseases with an average yield of 4.19 tons/ha. RD15 showed drought tolerance and resistance to brown spot disease with the highest yield of 3.5 tons/ha. These two mutant varieties are currently the most famous aromatic rice varieties in Thailand. On the other hand, RD10 is a glutinous, photoperiod insensitive rice variety which was derived from RD1 by irradiation of 1 kilorad fast neutrons. RD10 showed good grain quality such as softness and stickiness with the yield of 4.25 tons/ha. As an on-going project, recommended rice varieties were irradiated with electron beam for anaerobic germination ability, submergence tolerance, stagnant-flood tolerance and also internode elongation.

  20. Induced mutations for crop improvement

    International Nuclear Information System (INIS)

    Micke, A.; Donini, B.; Maluszynski, M.

    1990-01-01

    Mutation induction has become an established tool in plant breeding to supplement existing germ plasma and to improve cultivars in certain specific traits. Hundreds of improved varieties have been released to farmers for many different crop species, demonstrating the economic value of the technology. Limitations arise mainly from the large mutagenized populations to be screened and from the unsatisfactory selection methods. Both limitations may be eased to some extent by advances in techniques of plant in-vitro culture. (author). Refs, 1 fig., 7 tabs

  1. EGFR mutation frequency and effectiveness of erlotinib

    DEFF Research Database (Denmark)

    Weber, Britta; Hager, Henrik; Sorensen, Boe S

    2014-01-01

    mutation (S768I), and two complex mutations. Seven percent of the patients were never smokers. The differences in median progression-free survival and overall survival between the mutated group and the wild-type group were 8.0 vs. 2.5 months, p...-1 vs. 2-3) and line of treatment (1st vs. 2nd and 3rd) had no influence on outcome in EGFR-mutated patients. CONCLUSION: We found a higher frequency of EGFR mutations than expected in a cohort with less than 10% never smokers. The outcome after treatment with erlotinib was much better in patients......OBJECTIVES: In 2008, we initiated a prospective study to explore the frequency and predictive value of epidermal growth factor receptor (EGFR) mutations in an unselected population of Danish patients with non-small cell lung cancer offered treatment with erlotinib, mainly in second-line. MATERIALS...

  2. Mutation, Witten index, and quiver invariant

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Heeyeon [Perimeter Institute for Theoretical Physics,31 Caroline Street North, Waterloo, N2L 2Y5, Ontario (Canada); Lee, Seung-Joo [Department of Physics, Robeson Hall, Virginia Tech,Blacksburg, VA 24061 (United States); Yi, Piljin [School of Physics, Korea Institute for Advanced Study,Seoul 130-722 (Korea, Republic of)

    2015-07-20

    We explore Seiberg-like dualities, or mutations, for N=4 quiver quantum mechanics in the context of wall-crossing. In contrast to higher dimensions, the 1d Seiberg-duality must be performed with much care. With fixed Fayet-Iliopoulos constants, at most two nodes can be mutated, one left and the other right, mapping a chamber of a quiver into a chamber of a mutated quiver. We delineate this complex pattern for triangle quivers and show how the Witten indices are preserved under such finely chosen mutations. On the other hand, the quiver invariants, or wall-crossing-safe part of supersymmetric spectra, mutate more straightforwardly, whereby a quiver is mapped to a quiver. The mutation rule that preserves the quiver invariant is different from the usual one, however, which we explore and confirm numerically.

  3. Mutation, Witten index, and quiver invariant

    International Nuclear Information System (INIS)

    Kim, Heeyeon; Lee, Seung-Joo; Yi, Piljin

    2015-01-01

    We explore Seiberg-like dualities, or mutations, for N=4 quiver quantum mechanics in the context of wall-crossing. In contrast to higher dimensions, the 1d Seiberg-duality must be performed with much care. With fixed Fayet-Iliopoulos constants, at most two nodes can be mutated, one left and the other right, mapping a chamber of a quiver into a chamber of a mutated quiver. We delineate this complex pattern for triangle quivers and show how the Witten indices are preserved under such finely chosen mutations. On the other hand, the quiver invariants, or wall-crossing-safe part of supersymmetric spectra, mutate more straightforwardly, whereby a quiver is mapped to a quiver. The mutation rule that preserves the quiver invariant is different from the usual one, however, which we explore and confirm numerically.

  4. A NEW MUTATION OPERATOR IN GENETIC PROGRAMMING

    Directory of Open Access Journals (Sweden)

    Anuradha Purohit

    2013-01-01

    Full Text Available This paper proposes a new type of mutation operator, FEDS (Fitness, Elitism, Depth, and Size mutation in genetic programming. The concept behind the new mutation operator is inspired from already introduced FEDS crossover operator to handle the problem of code bloating. FEDS mutation operates by using local elitism replacement in combination with depth limit and size of the trees to reduce bloat with a subsequent improvement in the performance of trees (program structures. We have designed a multiclass classifier for some benchmark datasets to test the performance of proposed mutation. The results show that when the initial run uses FEDS crossover and the concluding run uses FEDS mutation, then not only is the final result significantly improved but there is reduction in bloat also.

  5. The Mutational Robustness of Influenza A Virus.

    Directory of Open Access Journals (Sweden)

    Elisa Visher

    2016-08-01

    Full Text Available A virus' mutational robustness is described in terms of the strength and distribution of the mutational fitness effects, or MFE. The distribution of MFE is central to many questions in evolutionary theory and is a key parameter in models of molecular evolution. Here we define the mutational fitness effects in influenza A virus by generating 128 viruses, each with a single nucleotide mutation. In contrast to mutational scanning approaches, this strategy allowed us to unambiguously assign fitness values to individual mutations. The presence of each desired mutation and the absence of additional mutations were verified by next generation sequencing of each stock. A mutation was considered lethal only after we failed to rescue virus in three independent transfections. We measured the fitness of each viable mutant relative to the wild type by quantitative RT-PCR following direct competition on A549 cells. We found that 31.6% of the mutations in the genome-wide dataset were lethal and that the lethal fraction did not differ appreciably between the HA- and NA-encoding segments and the rest of the genome. Of the viable mutants, the fitness mean and standard deviation were 0.80 and 0.22 in the genome-wide dataset and best modeled as a beta distribution. The fitness impact of mutation was marginally lower in the segments coding for HA and NA (0.88 ± 0.16 than in the other 6 segments (0.78 ± 0.24, and their respective beta distributions had slightly different shape parameters. The results for influenza A virus are remarkably similar to our own analysis of CirSeq-derived fitness values from poliovirus and previously published data from other small, single stranded DNA and RNA viruses. These data suggest that genome size, and not nucleic acid type or mode of replication, is the main determinant of viral mutational fitness effects.

  6. POLE somatic mutations in advanced colorectal cancer.

    Science.gov (United States)

    Guerra, Joana; Pinto, Carla; Pinto, Diana; Pinheiro, Manuela; Silva, Romina; Peixoto, Ana; Rocha, Patrícia; Veiga, Isabel; Santos, Catarina; Santos, Rui; Cabreira, Verónica; Lopes, Paula; Henrique, Rui; Teixeira, Manuel R

    2017-12-01

    Despite all the knowledge already gathered, the picture of somatic genetic changes in colorectal tumorigenesis is far from complete. Recently, germline and somatic mutations in the exonuclease domain of polymerase epsilon, catalytic subunit (POLE) gene have been reported in a small subset of microsatellite-stable and hypermutated colorectal carcinomas (CRCs), affecting the proofreading activity of the enzyme and leading to misincorporation of bases during DNA replication. To evaluate the role of POLE mutations in colorectal carcinogenesis, namely in advanced CRC, we searched for somatic mutations by Sanger sequencing in tumor DNA samples from 307 cases. Microsatellite instability and mutation analyses of a panel of oncogenes were performed in the tumors harboring POLE mutations. Three heterozygous mutations were found in two tumors, the c.857C>G, p.Pro286Arg, the c.901G>A, p.Asp301Asn, and the c.1376C>T, p.Ser459Phe. Of the POLE-mutated CRCs, one tumor was microsatellite-stable and the other had low microsatellite instability, whereas KRAS and PIK3CA mutations were found in one tumor each. We conclude that POLE somatic mutations exist but are rare in advanced CRC, with further larger studies being necessary to evaluate its biological and clinical implications. © 2017 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.

  7. Mutation direction by irradiation in rice

    International Nuclear Information System (INIS)

    Wang Cailian; Chen Qiufang; Jin Wei; Lu Yimei

    2001-01-01

    The mutation directions of rice were studied. The results indicated that the mutation directions of rice induced by 14 C were invert correlation to their genetic backgrounds of tested rice varieties, i.e. early mature and short stem varieties produced later mature and higher stem mutation; late mature and high stem varieties produced earlier mature and shorter stem mutation; the varieties of middle maturity and height produced both direction mutations of earlier and later maturity or shorter and higher stem. The mutation directions induced by 14 C were also related to treated doses and stages. Frequency of earlier maturity mutation by protons treatment were higher than those induced by other mutagens. Frequency of later maturity by γ-rays were higher than those induced by other mutagens. Frequency of short stem mutation by synchronous irradiation (soft X-rays) were higher than those induced by other mutagens. Frequency of beneficial mutation induced by proton treatment were higher than those induced by γ-rays

  8. Epilepsy caused by CDKL5 mutations.

    Science.gov (United States)

    Castrén, Maija; Gaily, Eija; Tengström, Carola; Lähdetie, Jaana; Archer, Hayley; Ala-Mello, Sirpa

    2011-01-01

    Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) have been identified in female patients with early onset epileptic encephalopathy and severe mental retardation with a Rett-like phenotype. Subsequently CDKL5 mutations were shown to be associated with more diverse phenotypes including mild epilepsy and autism without epilepsy. Furthermore, CDKL5 mutations were found in patients with Angelman-like phenotype. The severity of epilepsy associated with CDKL5 mutations was recently shown to correlate with the type of CDKL5 mutations and epilepsy was identified to involve three distinct sequential stages. Here, we describe the phenotype of a severe form of neurodevelopmental disease in a female patient with a de novo nonsense mutation of the CDKL5 gene c.175C > T (p.R59X) affecting the catalytic domain of CDKL5 protein. Mutations in the CDKL5 gene are less common in males and can be associated with a genomic deletion as found in our male patient with a deletion of 0.3 Mb at Xp22.13 including the CDKL5 gene. We review phenotypes associated with CDKL5 mutations and examine putative relationships between the clinical epilepsy phenotype and the type of the mutation in the CDKL5 gene. © 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  9. Mutation studies on garden roses: a review

    International Nuclear Information System (INIS)

    Datta, S.K.

    1997-01-01

    Most of the modern roses are the result of hybridization, selection and spontaneous mutation. For floriculture trade, there is always demand and necessity for new varieties due to change in taste and fashion. Mutation breeding is an established method for crop improvement. Induced somatic mutation breeding holds promise for effective improvement and have high potential for bringing about genetic improvement and it has led to a great burst of flower colour, form, pattern and other variations in rose by using ionizing radiations. The details of prospects and utilization of induced mutation breeding technique for developing new rose varieties have been compiled. (author)

  10. Repair-resistant mutation in Neurospora

    International Nuclear Information System (INIS)

    Stadler, D.; Macleod, H.; Loo, M.

    1987-01-01

    Chronic UV treatment produces severalfold fewer mutations in Neurospora conidia than does the same total dose of acute UV. Experiments were designed to determine the conditions required for chronic UV mutagenesis. Measurement of the coincidence frequency for two independent mutations revealed the existence of a subset of cells which are mutable by chronic UV. Analysis of forward mutation at the mtr locus showed that the genetic alterations produced by chronic UV were virtually all point mutants, even though the assay system could detect alterations or deletions extending into neighboring genes. A significant fraction of the mutants produced by acute UV were multigenic deletions. The size of the dose-rate effect (acute UV mutation frequency divided by chronic UV mutation frequency) was compared for several different mutation assay systems. Forward mutations (recessive lethals and mtr) gave values ranging from four to nine. For events which were restricted to specific molecular sites (specific reversions and nonsense suppressor mutations), there was a wider range of dose-rate ratios. This suggests that chronic UV mutation may be restricted to certain molecular sequences or configurations

  11. Mutation breedings in ornamental plants

    International Nuclear Information System (INIS)

    Matsubara, Hisao

    1984-01-01

    Several methods of obtaining somatic mutant plants by γ-ray irradiation on pieces of tissues as in vitro adventitious bud technique or small cutting methods with repeated pruning are described. 1) The irradiation to the adventitious buds in the small pieces of organ cultured in vitro and to the small cuttings are employed. Culture beds of agar or of Japanese Kanuma soil were used in vitro culture. In these experiments, Japanese Kanuma soil bed in in vitro culture worked well for root development and transplant of the induced mutants. 2) Combination with in vitro culture and repeated pruning technique were used for isolation and fixation of solid somatic mutant from small sectorial mutation induced by irradiation. This method was successful for begonia, chrysanthemum, aberia and winter daphne. 3) These data indicates that most of the induced mutant plants were non-chimeric, while a few others were chimeric. Among the new varieties, ''Gin-Sei'', ''Ryoku-Ha'', ''Big-Cross'', ''Kaede-Iron'', ''Mei-Fu-Hana-Tsukubane-Utsugi'' and ''Daphne-γ-3'' are non-chimeric, and ''Mini-Mini-Iron'' and ''Orange-Iron'' are chimeric. Moreover, these new varieties have remarkably differed in size and in color pattern from original variety. From the experimental results of somatic mutation, it is indicated that plant tissue culture have enormous potential in radiation breeding and in rapid propagation of the somatic mutant. (author)

  12. Mutation breeding in vegetable crops

    Energy Technology Data Exchange (ETDEWEB)

    Yamaguchi, Takashi

    1984-03-01

    Vegetables breed by seeds and vegetative organs. In main vegetables, the differentiation of clopping types, the adoption of monoculture and year-round production and shipment are carried out, adapting to various socio-economic and cultivation conditions. Protected agriculture has advanced mainly for fruit vegetables, and the seeds for sale have become almost hybrid varieties. Reflecting this situation, the demand for breeding is diversified and characteristic. The present status of mutation breeding of vegetables is not yet well under way, but reports of about 40 raised varieties have been published in the world. The characters introduced by induced mutation and irradiation are compact form, harvesting aptitude, the forms and properties of stems and leaves, anti-lodging property, the size, form and uniformity of fruits, male sterility and so on. The radiation sources used were mostly gamma ray or X-ray, but sometimes, combined irradiation was used. Results obtained in Japan include: burdocks as an example to gamma ray irradiation of seeds; tomatoes as an example of inducing compound resistance against disease injury; and lettuce as an example of internal beta irradiation. (Kako, I.).

  13. Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

    Science.gov (United States)

    Dehghanian, Fatemeh; Silawi, Mohammad; Tabei, Seyed M B

    2017-02-01

    Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. In this study, 13 unrelated classical PKU patients took part in the study detecting causative mutations. Mutations were identified by polymerase chain reaction (PCR) and direct sequencing in all patients. After that, haplotype analysis was performed by studying VNTR and PAHSTR markers (linked genetic markers of the PAH gene) through application of PCR and capillary electrophoresis (CE). Mutation analysis was performed successfully and the detected mutations were as follows: c.782G>A, c.754C>T, c.842C>G, c.113-115delTCT, c.688G>A, and c.696A>G. Additionally, PAHSTR/VNTR haplotypes were detected to discover haplotypes linked to each mutation. Mutation detection is the best approach for confirming PAH enzyme deficiency in PKU patients. Due to the relatively large size of the PAH gene and high cost of the direct sequencing in developing countries, haplotype analysis could be used before DNA sequencing and mutation detection for a faster and cheaper way via identifying probable mutated exons.

  14. Spontaneous mutation by mutagenic repair of spontaneous lesions in DNA

    International Nuclear Information System (INIS)

    Hastings, P.J.; Quah, S.-K.; Borstel, R.C. von

    1976-01-01

    It is stated that strains of yeast carrying mutations in many of the steps in pathways repairing radiation-induced damage to DNA have enhanced spontaneous mutation rates. Most strains isolated because they have enhanced spontaneous mutation carry mutations in DNA repair systems. This suggests that much spontaneous mutation arises by mutagenic repair of spontaneous lesions. (author)

  15. Rice breeding with induced mutations

    Energy Technology Data Exchange (ETDEWEB)

    1968-06-01

    The Joint FAO/IAEA Division of Atomic Energy in Food and Agriculture decided in 1964 to organize a co-ordinated research programme on the use of induced mutations in rice breeding. The programme was organized within the framework of activities of the International Rice Commission. This is a report of the Third Co-ordination Meeting of the participants, which was held in Taipei, 5-9 June 1967. As the projects, which together make up the co-ordinated programme, are at different stages of progress, the report contains a variety of papers including completed studies, field and progress reports, and highlights of the discussions with some additional recommendations prepared by the participants. Refs, figs and tabs.

  16. Molecular methods for the detection of mutations.

    Science.gov (United States)

    Monteiro, C; Marcelino, L A; Conde, A R; Saraiva, C; Giphart-Gassler, M; De Nooij-van Dalen, A G; Van Buuren-van Seggelen, V; Van der Keur, M; May, C A; Cole, J; Lehmann, A R; Steinsgrimsdottir, H; Beare, D; Capulas, E; Armour, J A

    2000-01-01

    We report the results of a collaborative study aimed at developing reliable, direct assays for mutation in human cells. The project used common lymphoblastoid cell lines, both with and without mutagen treatment, as a shared resource to validate the development of new molecular methods for the detection of low-level mutations in the presence of a large excess of normal alleles. As the "gold standard, " hprt mutation frequencies were also measured on the same samples. The methods under development included i) the restriction site mutation (RSM) assay, in which mutations lead to the destruction of a restriction site; ii) minisatellite length-change mutation, in which mutations lead to alleles containing new numbers of tandem repeat units; iii) loss of heterozygosity for HLA epitopes, in which antibodies can be used to direct selection for mutant cells; iv) multiple fluorescence-based long linker arm nucleotides assay (mf-LLA) technology, for the detection of substitutional mutations; v) detection of alterations in the TP53 locus using a (CA) array as the target for the screening; and vi) PCR analysis of lymphocytes for the presence of the BCL2 t(14:18) translocation. The relative merits of these molecular methods are discussed, and a comparison made with more "traditional" methods.

  17. Mutation update for the PORCN gene

    NARCIS (Netherlands)

    Lombardi, Maria Paola; Bulk, Saskia; Celli, Jacopo; Lampe, Anne; Gabbett, Michael T.; Ousager, Lillian Bomme; van der Smagt, Jasper J.; Soller, Maria; Stattin, Eva-Lena; Mannens, Marcel A. M. M.; Smigiel, Robert; Hennekam, Raoul C.

    2011-01-01

    Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum,

  18. Gene mutations in children with chronic pancreatitis.

    Science.gov (United States)

    Witt, H

    2001-01-01

    In the last few years, several genes have been identified as being associated with hereditary and idiopathic chronic pancreatitis (CP), i.e. PRSS1, CFTR and SPINK1. In this study, we investigated 164 unrelated children and adolescents with CP for mutations in disease-associated genes by direct DNA sequencing, SSCP, RFLP and melting curve analysis. In 15 patients, we detected a PRSS1 mutation (8 with A16V, 5 with R122H, 2 with N29I), and in 34 patients, a SPINK1 mutation (30 with N34S, 4 with others). SPINK1 mutations were predominantly found in patients without a family history (29/121). Ten patients were homozygous for N34S, SPINK1 mutations were most common in 'idiopathic' CP, whereas patients with 'hereditary' CP predominantly showed a PRSS1 mutation (R122H, N29I). In patients without a family history, the most common PRSS1 mutation was A16V (7/121). In conclusion, our data suggest that CP may be inherited in a dominant, recessive or multigenetic manner as a result of mutations in the above-mentioned or as yet unidentified genes. This challenges the concept of idiopathic CP as a nongenetic disorder and the differentiation between hereditary and idiopathic CP. Therefore, we propose to classify CP as either 'primary CP' (with or without a family history) or 'secondary CP' caused by toxic, metabolic or other factors.

  19. 'A' by Aspergillus terreus through mutation

    African Journals Online (AJOL)

    The highest drug yielding isolate FCBP-58 was subjected to both physical and chemical mutation to increase the biosynthetic capabilities of Cyclosporin 'A'. In this study, mutation was carried out by ultraviolet radiation (254 nm) and alkylating agent ethylmethane sulphonate (EMS). UV 5 min time treatment was proved to be ...

  20. TFAP2B mutation and dental anomalies.

    Science.gov (United States)

    Tanasubsinn, Natchaya; Sittiwangkul, Rekwan; Pongprot, Yupada; Kawasaki, Katsushige; Ohazama, Atsushi; Sastraruji, Thanapat; Kaewgahya, Massupa; Kantaputra, Piranit Nik

    2017-08-01

    Mutations inTFAP2B has been reported in patients with isolated patent ductus arteriosus (PDA) and Char syndrome. We performed mutation analysis of TFAP2B in 43 patients with isolated PDA, 7 patients with PDA with other congenital heart defects and 286 patients with isolated tooth agenesis with or without other dental anomalies. The heterozygous c.1006G>A mutation was identified in 20 individuals. Those mutation carriers consisted of 1 patient with term PDA (1/43), 16 patients with isolated tooth agenesis with or without other dental anomalies (16/286; 5.6%), 1 patient with PDA and severe valvular aortic stenosis and tooth agenesis (1/4) and 2 normal controls (2/100; 1%). The mutation is predicted to cause an amino-acid substitution p.Val336Ile in the TFAP2B protein. Tfap2b expression during early mouse tooth development supports the association of TFAP2B mutation and dental anomalies. It is hypothesized that this incidence might have been the result of founder effect. Here we report for the first time that TFAP2B mutation is associated with tooth agenesis, microdontia, supernumerary tooth and root maldevelopment. In addition, we also found that TFAP2B mutations, the common causes of PDA in Caucasian, are not the common cause of PDA in Thai population.

  1. Expanding CEP290 mutational spectrum in ciliopathies

    NARCIS (Netherlands)

    Travaglini, Lorena; Brancati, Francesco; Attie-Bitach, Tania; Audollent, Sophie; Bertini, Enrico; Kaplan, Josseline; Perrault, Isabelle; Iannicelli, Miriam; Mancuso, Brunella; Rigoli, Luciana; Rozet, Jean-Michel; Swistun, Dominika; Tolentino, Jerlyn; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria; Zankl, A.; Leventer, R.; Grattan-Smith, P.; Janecke, A.; D'Hooghe, M.; Sznajer, Y.; van Coster, R.; Demerleir, L.; Dias, K.; Moco, C.; Moreira, A.; Kim, C. Ae; Maegawa, G.; Petkovic, D.; Abdel-Salam, G. M. H.; Abdel-Aleem, A.; Zaki, M. S.; Marti, I.; Quijano-Roy, S.; Sigaudy, S.; de Lonlay, P.; Romano, S.; Touraine, R.; Koenig, M.; Lagier-Tourenne, C.; Messer, J.; Collignon, P.; Wolf, N.; Philippi, H.; Kitsiou Tzeli, S.; Halldorsson, S.; Johannsdottir, J.; Ludvigsson, P.; Phadke, S. R.; Udani, V.; Stuart, B.; Magee, A.; Lev, D.; Michelson, M.; Ben-Zeev, B.; Fischetto, R.; Benedicenti, F.; Stanzial, F.; Borgatti, R.; Accorsi, P.; Battaglia, S.; Fazzi, E.; Giordano, L.; Pinelli, L.; Boccone, L.; Bigoni, S.; Ferlini, A.; Donati, M. A.; Caridi, G.; Divizia, M. T.; Faravelli, F.; Ghiggeri, G.; Pessagno, A.; Briguglio, M.; Briuglia, S.; Salpietro, C. D.; Tortorella, G.; Adami, A.; Castorina, P.; Lalatta, F.; Marra, G.; Riva, D.; Scelsa, B.; Spaccini, L.; Uziel, G.; del Giudice, E.; Laverda, A. M.; Ludwig, K.; Permunian, A.; Suppiej, A.; Signorini, S.; Uggetti, C.; Battini, R.; Di Giacomo, M.; Cilio, M. R.; Di Sabato, M. L.; Leuzzi, V.; Parisi, P.; Pollazzon, M.; Silengo, M.; de Vescovi, R.; Greco, D.; Romano, C.; Cazzagon, M.; Simonati, A.; Al-Tawari, A. A.; Bastaki, L.; Mégarbané, A.; Sabolic Avramovska, V.; de Jong, M. M.; Stromme, P.; Koul, R.; Rajab, A.; Azam, M.; Barbot, C.; Martorell Sampol, L.; Rodriguez, B.; Pascual-Castroviejo, I.; Teber, S.; Anlar, B.; Comu, S.; Karaca, E.; Kayserili, H.; Yüksel, A.; Akcakus, M.; Al Gazali, L.; Sztriha, L.; Nicholl, D.; Woods, C. G.; Bennett, C.; Hurst, J.; Sheridan, E.; Barnicoat, A.; Hennekam, R.; Lees, M.; Blair, E.; Bernes, S.; Sanchez, H.; Clark, A. E.; DeMarco, E.; Donahue, C.; Sherr, E.; Hahn, J.; Sanger, T. D.; Gallager, T. E.; Dobyns, W. B.; Daugherty, C.; Krishnamoorthy, K. S.; Sarco, D.; Walsh, C. A.; McKanna, T.; Milisa, J.; Chung, W. K.; de Vivo, D. C.; Raynes, H.; Schubert, R.; Seward, A.; Brooks, D. G.; Goldstein, A.; Caldwell, J.; Finsecke, E.; Maria, B. L.; Holden, K.; Cruse, R. P.; Swoboda, K. J.; Viskochil, D.

    2009-01-01

    Ciliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert

  2. p53 mutations promote proteasomal activity.

    Science.gov (United States)

    Oren, Moshe; Kotler, Eran

    2016-07-27

    p53 mutations occur very frequently in human cancer. Besides abrogating the tumour suppressive functions of wild-type p53, many of those mutations also acquire oncogenic gain-of-function activities. Augmentation of proteasome activity is now reported as a common gain-of-function mechanism shared by different p53 mutants, which promotes cancer resistance to proteasome inhibitors.

  3. MT-CYB mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2013-01-01

    Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important...... and m.15482T>C; p.S246P were identified. Modeling showed that the p.C93Y mutation leads to disruption of the tertiary structure of Cytb by helix displacement, interfering with protein-heme interaction. The p.S246P mutation induces a diproline structure, which alters local secondary structure and induces...... of HCM patients. We propose that further patients with HCM should be examined for mutations in MT-CYB in order to clarify the role of these variants....

  4. Mutation update for the PORCN gene

    DEFF Research Database (Denmark)

    Lombardi, Maria Paola; Bulk, Saskia; Celli, Jacopo

    2011-01-01

    Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum......, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified...... variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole...

  5. Survival of mutations arising during invasions.

    Science.gov (United States)

    Miller, Judith R

    2010-03-01

    When a neutral mutation arises in an invading population, it quickly either dies out or 'surfs', i.e. it comes to occupy almost all the habitat available at its time of origin. Beneficial mutations can also surf, as can deleterious mutations over finite time spans. We develop descriptive statistical models that quantify the relationship between the probability that a mutation will surf and demographic parameters for a cellular automaton model of surfing. We also provide a simple analytic model that performs well at predicting the probability of surfing for neutral and beneficial mutations in one dimension. The results suggest that factors - possibly including even abiotic factors - that promote invasion success may also increase the probability of surfing and associated adaptive genetic change, conditioned on such success.

  6. The CDC Hemophilia B mutation project mutation list: a new online resource.

    Science.gov (United States)

    Li, Tengguo; Miller, Connie H; Payne, Amanda B; Craig Hooper, W

    2013-11-01

    Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list is compiled in an easily accessible format of Microsoft Excel and contains 1083 unique mutations that are reported to cause HB. Each mutation is identified using Human Genome Variation Society (HGVS) nomenclature standards. The mutation types and the predicted changes in amino acids, if applicable, are also provided. Related information including the location of mutation, severity of HB, the presence of inhibitor, and original publication reference are listed as well. Therefore, our mutation list provides an easily accessible resource for genetic counselors and HB researchers to predict inhibitors. The CHBMP mutation list is freely accessible at http://www.cdc.gov/hemophiliamutations.

  7. Mutational specificity of γ-rays

    International Nuclear Information System (INIS)

    Hoebee, Barbara.

    1990-01-01

    The aim of the study described in this thesis was to get more information on the mutagenic properties of radiation-induced DNA modifications and the possible mechanisms involved in radiation-induced mutagenesis, principally by investigating the kinds of mutations by DNA sequence analysis. The mutations were analyzed after γ-irradiation of recombinant bacteriophage M13 and plasmide pUC DNA in diluted aqueous solutions, followed by transfection or transformation to E. coli cells, in which the damaged DNA molecules are repaired and replicated. Error-prone repair, misrepair or bypass of lesions during replication may lead to the introduction of mutations. Both the M13 and the plasmid DNA used in our mutation studies contain a mutation target sequence, which makes an easy selection and sequence analysis of mutant DNA molecules possible. Under the radiation conditions used, e.g. irradiation of diluted aqueous DNA solutions, only DNA damage occurs introduced by the water derived OH* and H* radicals and the hydrated electrons. By using different gas conditions during irradiation the relative yields of these reaction species can be manipulated, which opens up the opportunity to determine their effects separately. The mutation spectrum obtained in double-stranded (ds) M13DNA after irradiation under oxic conditions and the mutation spectrum obtained under the same conditions and in the same mutation target but cloned in plasmid DNA, are described. The mutation specificity under anoxic conditions in ds M13DNA is given. Results obtained after irradiation of ds M13DNA under N 2 conditions are discussed together with experiments with single-stranded DNA. Similarities and differences between radiation-induced mutation spectra obtained by other groups and those presented in this thesis are discussed. (author). 155 refs.; 134 figs.; 16 tabs

  8. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

    Science.gov (United States)

    Setia, Nitika; Saxena, Renu; Arora, Anjali; Verma, Ishwar C

    2016-12-01

    Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians. Sixteen homozygous FH subjects from eleven families were analyzed for mutations by Sanger sequencing. Large rearrangements in LDLR gene were evaluated by multiplex ligation probe dependent amplification (MLPA) technique. Ten mutations were observed in LDLR gene, of which four mutations were novel. No mutation was detected in ApoB gene and common PCSK9 mutation (p.D374Y). Fourteen cases had homozygous mutations; one had compound heterozygous mutation, while no mutation was detected in one clinically homozygous case. We report an interesting "Triple hit" case with features of homozygous FH. The spectrum of mutations in the Asian Indian population is quite heterogeneous. Of the mutations identified, 40% were novel. No mutation was observed in exons 3, 9 and 14 of LDLR gene, which are considered to be hot spots in studies done on Asian Indians in South Africa. Early detection followed by aggressive therapy, and cascade screening of extended families has been initiated to reduce the morbidity and mortality in these patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  9. Development of Trombay pulse crop varieties mutation through induced mutation

    International Nuclear Information System (INIS)

    Dhole, V.J.; Reddy, K.S.

    2016-01-01

    The food prices including pulses were beginning to increase from 2008, something that was not expected to happen before 2020. It was due to climate change, a scarcity of good arable land, water and nutrients. With these obstacles, we must produce almost double than what we are producing now to achieve food security by 2050. It can be achieved through crop improvement. Crop improvement is the art and science of changing the genetic make of crop plant in desire direction through various method of plant breeding. Mutation breeding is one of the techniques which utilize the physical and chemical mutagens to create genetic variability. Till date more than 3200 mutant varieties have been developed worldwide in which two physical mutagens i.e. X-rays and gamma rays have major contributions. Bhabha Atomic Research Centre is one of the leading institutes in India where nuclear energy is used for crop improvement, which resulted in to development of 43 improved high yielding varieties in different crops including 19 varieties of pulse crops. These varieties are contributing significantly to production of pulses and ultimately to national food security. (author)

  10. Benchmarking infrastructure for mutation text mining.

    Science.gov (United States)

    Klein, Artjom; Riazanov, Alexandre; Hindle, Matthew M; Baker, Christopher Jo

    2014-02-25

    Experimental research on the automatic extraction of information about mutations from texts is greatly hindered by the lack of consensus evaluation infrastructure for the testing and benchmarking of mutation text mining systems. We propose a community-oriented annotation and benchmarking infrastructure to support development, testing, benchmarking, and comparison of mutation text mining systems. The design is based on semantic standards, where RDF is used to represent annotations, an OWL ontology provides an extensible schema for the data and SPARQL is used to compute various performance metrics, so that in many cases no programming is needed to analyze results from a text mining system. While large benchmark corpora for biological entity and relation extraction are focused mostly on genes, proteins, diseases, and species, our benchmarking infrastructure fills the gap for mutation information. The core infrastructure comprises (1) an ontology for modelling annotations, (2) SPARQL queries for computing performance metrics, and (3) a sizeable collection of manually curated documents, that can support mutation grounding and mutation impact extraction experiments. We have developed the principal infrastructure for the benchmarking of mutation text mining tasks. The use of RDF and OWL as the representation for corpora ensures extensibility. The infrastructure is suitable for out-of-the-box use in several important scenarios and is ready, in its current state, for initial community adoption.

  11. The SHOX region and its mutations.

    Science.gov (United States)

    Capone, L; Iughetti, L; Sabatini, S; Bacciaglia, A; Forabosco, A

    2010-06-01

    The short stature homeobox-containing (SHOX) gene lies in the pseudoautosomal region 1 (PAR1) that comprises 2.6 Mb of the short-arm tips of both the X and Y chromosomes. It is known that its heterozygous mutations cause Leri-Weill dyschondrosteosis (LWD) (OMIM #127300), while its homozygous mutations cause a severe form of dwarfism known as Langer mesomelic dysplasia (LMD) (OMIM #249700). The analysis of 238 LWD patients between 1998 and 2007 by multiple authors shows a prevalence of deletions (46.4%) compared to point mutations (21.2%). On the whole, deletions and point mutations account for about 67% of LWD patients. SHOX is located within a 1000 kb desert region without genes. The comparative genomic analysis of this region between genomes of different vertebrates has led to the identification of evolutionarily conserved non-coding DNA elements (CNE). Further functional studies have shown that one of these CNE downstream of the SHOX gene is necessary for the expression of SHOX; this is considered to be typical "enhancer" activity. Including the enhancer, the overall mutation of the SHOX region in LWD patients does not hold in 100% of cases. Various authors have demonstrated the existence of other CNE both downstream and upstream of SHOX regions. The resulting conclusion is that it is necessary to reanalyze all LWD/LMD patients without SHOX mutations for the presence of mutations in the 5'- and 3'-flanking SHOX regions.

  12. Mutational robustness of gene regulatory networks.

    Directory of Open Access Journals (Sweden)

    Aalt D J van Dijk

    Full Text Available Mutational robustness of gene regulatory networks refers to their ability to generate constant biological output upon mutations that change network structure. Such networks contain regulatory interactions (transcription factor-target gene interactions but often also protein-protein interactions between transcription factors. Using computational modeling, we study factors that influence robustness and we infer several network properties governing it. These include the type of mutation, i.e. whether a regulatory interaction or a protein-protein interaction is mutated, and in the case of mutation of a regulatory interaction, the sign of the interaction (activating vs. repressive. In addition, we analyze the effect of combinations of mutations and we compare networks containing monomeric with those containing dimeric transcription factors. Our results are consistent with available data on biological networks, for example based on evolutionary conservation of network features. As a novel and remarkable property, we predict that networks are more robust against mutations in monomer than in dimer transcription factors, a prediction for which analysis of conservation of DNA binding residues in monomeric vs. dimeric transcription factors provides indirect evidence.

  13. Sequential acquisition of mutations in myelodysplastic syndromes.

    Science.gov (United States)

    Makishima, Hideki

    2017-01-01

    Recent progress in next-generation sequencing technologies allows us to discover frequent mutations throughout the coding regions of myelodysplastic syndromes (MDS), potentially providing us with virtually a complete spectrum of driver mutations in this disease. As shown by many study groups these days, such driver mutations are acquired in a gene-specific fashion. For instance, DDX41 mutations are observed in germline cells long before MDS presentation. In blood samples from healthy elderly individuals, somatic DNMT3A and TET2 mutations are detected as age-related clonal hematopoiesis and are believed to be a risk factor for hematological neoplasms. In MDS, mutations of genes such as NRAS and FLT3, designated as Type-1 genes, may be significantly associated with leukemic evolution. Another type (Type-2) of genes, including RUNX1 and GATA2, are related to progression from low-risk to high-risk MDS. Overall, various driver mutations are sequentially acquired in MDS, at a specific time, in either germline cells, normal hematopoietic cells, or clonal MDS cells.

  14. Benchmarking infrastructure for mutation text mining

    Science.gov (United States)

    2014-01-01

    Background Experimental research on the automatic extraction of information about mutations from texts is greatly hindered by the lack of consensus evaluation infrastructure for the testing and benchmarking of mutation text mining systems. Results We propose a community-oriented annotation and benchmarking infrastructure to support development, testing, benchmarking, and comparison of mutation text mining systems. The design is based on semantic standards, where RDF is used to represent annotations, an OWL ontology provides an extensible schema for the data and SPARQL is used to compute various performance metrics, so that in many cases no programming is needed to analyze results from a text mining system. While large benchmark corpora for biological entity and relation extraction are focused mostly on genes, proteins, diseases, and species, our benchmarking infrastructure fills the gap for mutation information. The core infrastructure comprises (1) an ontology for modelling annotations, (2) SPARQL queries for computing performance metrics, and (3) a sizeable collection of manually curated documents, that can support mutation grounding and mutation impact extraction experiments. Conclusion We have developed the principal infrastructure for the benchmarking of mutation text mining tasks. The use of RDF and OWL as the representation for corpora ensures extensibility. The infrastructure is suitable for out-of-the-box use in several important scenarios and is ready, in its current state, for initial community adoption. PMID:24568600

  15. New mutations affecting induced mutagenesis in yeast.

    Science.gov (United States)

    Lawrence, C W; Krauss, B R; Christensen, R B

    1985-01-01

    Previously isolated mutations in baker's yeast, Saccharomyces cerevisiae, that impair induced mutagenesis were all identified with the aid of tests that either exclusively or predominantly detect base-pair substitutions. To avoid this bias, we have screened 11 366 potentially mutant clones for UV-induced reversion of the frameshift allele, his4-38, and have identified 10 mutants that give much reduced yields of revertants. Complementation and recombination tests show that 6 of these carry mutations at the previously known REV1, REV1 and REV3 loci, while the remaining 4 define 3 new genes, REV4 (2 mutations), REV5 and REV6. The rev4 mutations are readily suppressed in many genetic backgrounds and, like the rev5 mutation, impart only a limited deficiency for induced mutagenesis: it is likely, therefore that the REV4+ and REV5+ gene functions are only remotely concerned with this process. The rev6 mutants have a more general deficiency, however, as well as marked sensitivity to UV and an increased spontaneous mutation rate, properties that suggest the REV6 gene is directly involved in mutation induction. The REV5 gene is located about 1 cM proximal to CYC1 on chromosome X.

  16. Mutations in the Norrie disease gene.

    Science.gov (United States)

    Schuback, D E; Chen, Z Y; Craig, I W; Breakefield, X O; Sims, K B

    1995-01-01

    We report our experience to date in mutation identification in the Norrie disease (ND) gene. We carried out mutational analysis in 26 kindreds in an attempt to identify regions presumed critical to protein function and potentially correlated with generation of the disease phenotype. All coding exons, as well as noncoding regions of exons 1 and 2, 636 nucleotides in the noncoding region of exon 3, and 197 nucleotides of 5' flanking sequence, were analyzed for single-strand conformation polymorphisms (SSCP) by polymerase chain reaction (PCR) amplification of genomic DNA. DNA fragments that showed altered SSCP band mobilities were sequenced to locate the specific mutations. In addition to three previously described submicroscopic deletions encompassing the entire ND gene, we have now identified 6 intragenic deletions, 8 missense (seven point mutations, one 9-bp deletion), 6 nonsense (three point mutations, three single bp deletions/frameshift) and one 10-bp insertion, creating an expanded repeat in the 5' noncoding region of exon 1. Thus, mutations have been identified in a total of 24 of 26 (92%) of the kindreds we have studied to date. With the exception of two different mutations, each found in two apparently unrelated kindreds, these mutations are unique and expand the genotype database. Localization of the majority of point mutations at or near cysteine residues, potentially critical in protein tertiary structure, supports a previous protein model for norrin as member of a cystine knot growth factor family (Meitinger et al., 1993). Genotype-phenotype correlations were not evident with the limited clinical data available, except in the cases of larger submicroscopic deletions associated with a more severe neurologic syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

  17. JAK and MPL mutations in myeloid malignancies.

    Science.gov (United States)

    Tefferi, Ayalew

    2008-03-01

    The Janus family of non-receptor tyrosine kinases (JAK1, JAK2, JAK3 and tyrosine kinase 2) transduces signals downstream of type I and II cytokine receptors via signal transducers and activators of transcription (STATs). JAK3 is important in lymphoid and JAK2 in myeloid cell proliferation and differentiation. The thrombopoietin receptor MPL is one of several JAK2 cognate receptors and is essential for myelopoiesis in general and megakaryopoiesis in particular. Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively. Germline gain-of-function (GOF) MPL mutation (MPLS505N) causes familial thrombocytosis. Somatic JAK3 (e.g. JAK3A572V, JAK3V722I, JAK3P132T) and fusion JAK2 (e.g. ETV6-JAK2, PCM1-JAK2, BCR-JAK2) mutations have respectively been described in acute megakaryocytic leukemia and acute leukemia/chronic myeloid malignancies. However, current attention is focused on JAK2 (e.g. JAK2V617F, JAK2 exon 12 mutations) and MPL (e.g. MPLW515L/K/S, MPLS505N) mutations associated with myeloproliferative neoplasms (MPNs). A JAK2 mutation, primarily JAK2V617F, is invariably associated with polycythemia vera (PV). The latter mutation also occurs in the majority of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). MPL mutational frequency in MPNs is substantially less (<10%). In general, despite a certain degree of genotype - phenotype correlations, the prognostic relevance of harbouring one of these mutations, or their allele burden when present, remains dubious. Regardless, based on the logical assumption that amplified JAK-STAT signalling is central to the pathogenesis of PV, ET and PMF, several anti-JAK2 tyrosine kinase inhibitors have been developed and are currently being tested in humans with these disorders.

  18. Técnica dramática y retórica de las pasiones en el Tratado completo del arte del canto de Manuel García

    Directory of Open Access Journals (Sweden)

    Díaz Marroquín, Lucía

    2007-12-01

    Full Text Available The history of European singing technique, from the Italian origins of the stile rappresentativo and the early Seicento musical drama to the heights of bel canto, seems inextricably related to the classical rhetorical and philosophical theories, later re-interpreted by the humanist and rationalist authors. Manuel García’s Tratado completo del arte del canto inherits this tradition and contributes to it with every single observation or musical example included in this eminently practical work.

    Desde los orígenes italianos del stile rappresentativo y del drama musical, en los últimos años del siglo XVI y primeros del XVII, hasta el esplendor del bel canto, la historia de los tratados de canto europeos se encuentra inseparablemente asociada a las teorías retóricas y filosóficas clásicas, más tarde reinterpretadas por los autores humanistas y preenciclopedistas. Al escribir su Tratado completo del arte del canto, una obra eminentemente práctica, Manuel García hereda esta tradición y contribuye a ella con cada una de las observaciones y ejemplos musicales que propone.

  19. Tradição e retórica imagética: a construção da propaganda visual oposicionista no levante de 1932 em São Paulo

    Directory of Open Access Journals (Sweden)

    João Paulo Rodrigues

    2011-06-01

    Full Text Available Esgotando-se o tempo de vida das testemunhas do levante de 1932 o dever de memória respeitante a ele segue candente. Com efeito, a intensidade deste movimento perpassa, também, a historiografia, que aparece cindida em posições mais críticas ou aclamativas, reproduzindo, de certo modo, as polêmicas nascidas no próprio confronto. Em boa medida, por conseguinte, conhecer melhor a "Revolução Constitucionalista" implica exumar as leituras que os insurrectos faziam da realidade vivida e as representações de que lançavam mão, com vistas a vencer as correlações de forças que os acometiam. Essas preocupações são abordadas neste artigo, que o faz, no entanto, sob o prisma alvissareiro das imagens e da produção cultural vinculada à propaganda proselitista. São elas que trazem à tona a retórica constitucionalista, eivada por teores regionalistas, sustentada por redes de relações sociais e, dadas às sutilezas, imiscuídas profundamente na memória histórica.

  20. ¿Obedecer las leyes?: utilitarismo, retórica forense y autoridad en el Critón de Platón (50a6-50b5

    Directory of Open Access Journals (Sweden)

    Eduardo Esteban Magoja

    2017-07-01

    Full Text Available En el Critón de Platón se instala un interesante argumento utilitarista para justificar la obligación política de los ciudadanos. El argumento sostiene que la violación de las leyes lleva a la destrucción de cualquier sistema jurídico y acarrea resultados perjudiciales para los miembros de la comunidad (50a6-50c. En este trabajo realizaremos un análisis crítico del argumento bajo los postulados de tres corrientes utilitaristas: el utilitarismo de acto, la generalización utilitarista y el utilitarismo de regla. Veremos cómo esta clase de argumentación presenta algunos inconvenientes a la hora de justificar la obediencia al derecho. Una vez realizado este estudio se propondrá otra interpretación complementaria sobre el significado del pasaje, en la que se destacará su costado retórico forense y la idea de la autoridad del derecho.

  1. Sobre a retórica da exclusão: a incidência do discurso ideológico em serviços substitutivos de cuidado a psicóticos

    Directory of Open Access Journals (Sweden)

    Christian Ingo Lenz Dunker

    Full Text Available O Brasil atravessa um vigoroso processo de reforma psiquiátrica. Pressionado pelo Movimento dos Trabalhadores de Saúde Mental, o Ministério da Saúde adotou como uma de suas diretrizes de ação favorecer a inclusão social dos portadores de transtornos mentais no Brasil. Nos moldes propostos pelos partidários da reforma psiquiátrica, o tratamento da psicose deve enfatizar a negação da lógica manicomial através de uma política compensatória de benefícios e da participação em movimentos sociais. Neste artigo, examinamos alguns aspectos ideológicos dessa proposta e algumas de suas inflexões clínicas. Procuramos mostrar como o efeito de circulação de discursos pode abrir campos de significação onde certos modos de compreensão e socialização são estimulados em detrimento de outros. Argumentamos que a retórica baseada na oposição entre inclusão e exclusão pode ser pensada em sua dupla incidência, clínica e ideológica.

  2. Identification of sumoylation sites in CCDC6, the first identified RET partner gene in papillary thyroid carcinoma, uncovers a mode of regulating CCDC6 function on CREB1 transcriptional activity.

    Directory of Open Access Journals (Sweden)

    Chiara Luise

    Full Text Available CCDC6 was originally identified in chimeric genes as caused by chromosomal translocation involving the RET protooncogene in some thyroid tumors. Recognised as a 65 kDa pro-apoptotic phosphoprotein, CCDC6 has been enrolled as an ATM substrate that contribute to protect genome integrity by modulating PP4c activity in response to genotoxic stress. Recently, CCDC6 has been identified as a repressor of CREB1-dependent transcription. Sumoylation has emerged as an important mechanism in transcriptional control. Here, we report the identification and characterization of three sites of sumoylation in CCDC6 (K74, K266 and K424 which are highly conserved in vertebrates. We demonstrate that the post-translational modifications by SUMO2 constrain most of the CCDC6 protein in the cytosol and affect its functional interaction with CREB1 with a decrease of CCDC6 repressive function on CREB1 transcriptional activity. Indeed, the impairment of functional outcome of sumoylated CCDC6 is obtained knocking down all three the sumoylation sites. Interestingly, in thyroid cells the SUMO2-mediated CCDC6 post-translational modifications are induced by Forskolin, a cAMP analog. Signal transduction via the cAMP pathway is known to be ubiquitous and represents a major line of communication between many organisms and their environment. We believe that CCDC6 could be an important player in the dynamics of cAMP signaling by fine regulating CREB1 transcriptional activity in normal and transformed thyroid cells.

  3. As estratégias de retórica na disputa pela Prefeitura de São Paulo em 2004: PT, mandatário, versus PSDB, desafiante

    Directory of Open Access Journals (Sweden)

    Luciana Fernandes Veiga

    2007-06-01

    Full Text Available A experiência do PT no governo (nos âmbitos nacional e local suscitou a curiosidade sobre possíveis alterações no seu discurso eleitoral na disputa pela Prefeitura de São Paulo. O foco desta análise está nas continuidades e rupturas das estratégias retóricas elaboradas a partir dos eixos ideológico (esquerda e direita e pragmático (mandatário e desafiante. A preocupação central é o discurso do PT, e a análise da comunicação apresentada pelo PSDB tem um caráter complementar. Todos os programas e spots veiculados pelas campanhas do PT e do PSDB em São Paulo foram analisados a partir de métodos qualitativos e quantitativos.The experience of the Worker's Party at the Brazilian national and local governments has estimuladted the curiosity about changings in its electoral discourse at the elections for the São Paulo Mayor. This article focuses on the changes and continuities of rethorical strategieand the analysis is based on campaign 'spots' veiculated by the Worker's Party and the Brazilian Social Democratic Party.

  4. Petroleum pollution and mutation in mangroves

    International Nuclear Information System (INIS)

    Klekowski, E.J. Jr.; Corredor, J.E.; Morell, J.M.; Del Castillo, C.A.

    1994-01-01

    Chlorophyll-deficiency has often been used as a sensitive genetic end-point in plant mutation research. The frequency of trees heterozygous for nuclear chlorophyll-deficient mutations was determined for mangrove populations growing along the southwest coast of Puerto Rico. The frequency of heterozygotes was strongly correlated with the concentration of polycyclic aromatic hydrocarbons in the underlying sediment and with both acute and chronic petroleum pollution. Although epidemiological studies can seldom prove causation, a strong correlation is certainly compatible with a cause-effect relationship. Our results suggest that the biota of oil-polluted habitats may be experiencing increased mutation. (Author)

  5. Molecular mechanisms of induced-mutations

    International Nuclear Information System (INIS)

    Kato, Takeshi

    1985-01-01

    The outcome of recent studies on mechanisms of induced-mutations is outlined with particular emphasis on the dependence of recA gene function in Escherichia coli. Genes involved in spontaneous mutation and x-ray- and chemical-induced mutation and genes involved in adaptive response are presented. As for SOS mutagenesis, SOS-induced regulation mechanisms and mutagenic routes are described. Furthermore, specificity of mutagens themselves are discussed in relation to mechanisms of base substitution, frameshift, and deletion mutagenesis. (Namekawa, K.)

  6. Prevalent mutations in fatty acid oxidation disorders

    DEFF Research Database (Denmark)

    Gregersen, N; Andresen, B S; Bross, P

    2000-01-01

    UNLABELLED: The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation...... of the disease in question and determination of the carrier frequency in the general population may help in elucidating the penetrance of the genotype. This is exemplified in disorders of mitochondrial fatty acid oxidation....

  7. Energy parasites trigger oncogene mutation.

    Science.gov (United States)

    Pokorný, Jiří; Pokorný, Jan; Jandová, Anna; Kobilková, Jitka; Vrba, Jan; Vrba, Jan

    2016-10-01

    Cancer initialization can be explained as a result of parasitic virus energy consumption leading to randomized genome chemical bonding. Analysis of experimental data on cell-mediated immunity (CMI) containing about 12,000 cases of healthy humans, cancer patients and patients with precancerous cervical lesions disclosed that the specific cancer and the non-specific lactate dehydrogenase-elevating (LDH) virus antigen elicit similar responses. The specific antigen is effective only in cancer type of its origin but the non-specific antigen in all examined cancers. CMI results of CIN patients display both healthy and cancer state. The ribonucleic acid (RNA) of the LDH virus parasitizing on energy reduces the ratio of coherent/random oscillations. Decreased effect of coherent cellular electromagnetic field on bonding electrons in biological macromolecules leads to elevating probability of random genome reactions. Overlapping of wave functions in biological macromolecules depends on energy of the cellular electromagnetic field which supplies energy to bonding electrons for selective chemical bonds. CMI responses of cancer and LDH virus antigens in all examined healthy, precancerous and cancer cases point to energy mechanism in cancer initiation. Dependence of the rate of biochemical reactions on biological electromagnetic field explains yet unknown mechanism of genome mutation.

  8. MUTATION BREEDING AS MALNUTRITION IN NIGE TATION ...

    African Journals Online (AJOL)

    userpc

    span, early maturing, high nutritional composition and yields with l is study ... Mutation (a change in genetic material of organism) ... 2001), modified plant architecture, closed capsules ... found in the mutants of wheat inbred lines originated ...

  9. Progress of mutation breeding in Thailand

    Energy Technology Data Exchange (ETDEWEB)

    Purivirojkul, Watchara; Vithayatherarat, Pradab [Pathumthani Rice Research Center (Thailand)

    2001-03-01

    The objectives in rice improvement in Thailand are to improve not only for high yielding and good grain quality but also for resistance to diseases and insects and tolerance to biotic stresses. Brief history of research and progress in rice mutation breeding in Thailand is presented. It includes the varieties of method such as using gamma rays, fast neutron and chemical mutagens, for example EMS (ethylmethane sulfonate) and EI (ethylene imine) for mutation works. Among all, improvements of Pathumthani 60 for short-statured plant type, RD23 for blast resistance, Basmati 370 for short-statured plant type, and Pra Doo Daeng for short-statured plant type and awnless grain are reported. To conclude, it is important to find the adequate doses of mutagen treatments that give maximum mutation frequencies, to know the optimal treatments or proper selection methods and to have well-defined objectives to create the success of mutation breeding. (S. Ohno)

  10. Radiation-induced mutations in mammals

    International Nuclear Information System (INIS)

    Ehling, U.H.

    1993-01-01

    The aims of the proposed project are to provide a better basis for extrapolation of animal data to man. Genetic endpoint, strain and species comparisons are made, which will provide critical experimental data regarding strategies in extrapolating laboratory animal data to man. Experiments were conducted to systematically compare the spontaneous and radiation-induced mutation rates for recessive specific-locus, dominant cataract and enzyme activity alleles in the mouse as well as a comparison of the mutation rate in the mouse and hamster for dominant cataract and enzyme activity alleles. The comparison of the radiation-dose response for recessive specific-locus and dominant cataract mutations are extended. Selected mutations are characterized at the genetic, biochemical and molecular levels. (R.P.) 5 refs., 3 tabs

  11. Progress of mutation breeding in Thailand

    International Nuclear Information System (INIS)

    Purivirojkul, Watchara; Vithayatherarat, Pradab

    2001-01-01

    The objectives in rice improvement in Thailand are to improve not only for high yielding and good grain quality but also for resistance to diseases and insects and tolerance to biotic stresses. Brief history of research and progress in rice mutation breeding in Thailand is presented. It includes the varieties of method such as using gamma rays, fast neutron and chemical mutagens, for example EMS (ethylmethane sulfonate) and EI (ethylene imine) for mutation works. Among all, improvements of Pathumthani 60 for short-statured plant type, RD23 for blast resistance, Basmati 370 for short-statured plant type, and Pra Doo Daeng for short-statured plant type and awnless grain are reported. To conclude, it is important to find the adequate doses of mutagen treatments that give maximum mutation frequencies, to know the optimal treatments or proper selection methods and to have well-defined objectives to create the success of mutation breeding. (S. Ohno)

  12. IFITM5 mutations and osteogenesis imperfecta.

    Science.gov (United States)

    Hanagata, Nobutaka

    2016-03-01

    Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V. Although IFITM5 is not directly involved in the formation of bone in vivo, the reason why IFITM5 mutations cause OI remains a major mystery. In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.

  13. Modification of mutation frequency in Saccharomyces Cerevisiae

    International Nuclear Information System (INIS)

    Vashishat, R.K.; Kakar, S.N.

    1976-01-01

    In a reverse mutation system, using haploid, histidine-requirinq strain of Saccharomyces cerevisiae, the frequency of uv-induced prototrophs increased if the post-irradiation minimal medium was supplemented with limited amounts of histidine. Addition of natural amino acids or RNA bases in the post-irradiation minimal medium, with or without histidine, also increased the uv-induced mutation frequency. Thus, post-irradiation conditions favouring protein and RNA synthesis, are effective in increasing uv-induced mutations in yeast. As compared to uv light, nitrous acid was more effective in inducing reversions in this strain and the frequency increased if the treated cells were plated on minimal medium supplemented with limited amounts of histidine. However, the addition of amino acids or RNA bases decreased the number of revertants. An additional inclusion of histidine reversed the suppressive effect of these metabolites. The mutation induction processes are thus different or differently modifiable in uv and nitrous acid. (author)

  14. Induced mutations - a tool in plant research

    International Nuclear Information System (INIS)

    1981-01-01

    These proceedings include 34 papers and 18 brief descriptions of poster presentations in the following areas as they are affected by induced mutations: advancement of genetics, plant evolution, plant physiology, plant parasites, plant symbioses, in vitro culture, gene ecology and plant breeding. Only a relatively small number of papers are of direct nuclear interest essentially in view of the mutations being induced by ionizing radiations. The papers of nuclear interest have been entered as separate and individual items of input

  15. Learning resistance mutation pathways of HIV

    OpenAIRE

    Ramon, Jan; Dubrovskaya, Snezhana; Blockeel, Hendrik

    2007-01-01

    We propose a novel machine learning algorithm for learning mutation pathways of viruses from a population of viral DNA strands. More specifically, given a number of sequences, the algorithm constructs a phylogenetic tree that expresses the ancestry of the sequences, and at the same time builds a model describing dependencies between mutations that is consistent with the data as well as the phylogenetic tree. Our approach extends existing approaches for phylogenetic tree construction by not as...

  16. Mitochondrial DNA mutations in human tumor cells

    OpenAIRE

    LI, HUI; HONG, ZE-HUI

    2012-01-01

    Mitochondria play significant roles in cellular energy metabolism, free radical generation and apoptosis. The dysfunction of mitochondria is correlated with the origin and progression of tumors; thus, mutations in the mitochondrial genome that affect mitochondrial function may be one of the causal factors of tumorigenesis. Although the role of mitochondrial DNA (mtDNA) mutations in carcinogenesis has been investigated extensively by various approaches, the conclusions remain controversial to ...

  17. Identifying driver mutations in sequenced cancer genomes

    DEFF Research Database (Denmark)

    Raphael, Benjamin J; Dobson, Jason R; Oesper, Layla

    2014-01-01

    High-throughput DNA sequencing is revolutionizing the study of cancer and enabling the measurement of the somatic mutations that drive cancer development. However, the resulting sequencing datasets are large and complex, obscuring the clinically important mutations in a background of errors, nois...... patterns of mutual exclusivity. These techniques, coupled with advances in high-throughput DNA sequencing, are enabling precision medicine approaches to the diagnosis and treatment of cancer....

  18. Mutation Rates of STR Systems in Danes

    DEFF Research Database (Denmark)

    Andersen, Kim Emil; Bøttcher, Susanne Gammelgaard; Christensen, Susanne

    Danish paternity cases in the period 1999 to 2005 were investigated regarding mutation rates in STR loci. STR-typing was performed by the Applied Biosystems AmplfStr Profiler Plus kit in the period 1999 to early 2005, hereafter named the PP9, and by Applied Biosystems AmplfStr Identifier kit for ...... and kits. Sex and STR locus specific mutation rates were estimated with 95% confidence limits by the method of Clopper and Pearson (1934)....

  19. Factor V Leiden mutation in pregnancy.

    Science.gov (United States)

    Cohen, Susan Murphy

    2004-01-01

    Normal maternal adaptation to pregnancy significantly increases the risk for thrombus formation. Inherited thrombophilias further increase risk for deep venous thrombosis and adverse outcome in pregnancy. Factor V Leiden mutation is the most common inherited thrombophilia, occurring in approximately 5% of the White and 1% of the Black populations. Nurses should be knowledgeable about screening for and diagnosis of factor V Leiden mutation, risk reduction counseling, recommended care of the affected patient, and implications of anticoagulant therapy during the perinatal period.

  20. Mutation induction in plants by ionizing radiation

    International Nuclear Information System (INIS)

    1985-01-01

    This training film deals with the use of x-rays, gamma rays and fast neutrons for mutation induction in plants. Specific features of different types of ionizing radiation and of biological materials are outlined and methods demonstrated which control modifying factors and warrant an efficient physical mutagenesis. The first step of mutation breeding aims at an enhanced level of genetic variation which forms the basis for mutant selection and use in plant breeding

  1. Use of induced mutations in soybean breeding

    International Nuclear Information System (INIS)

    Zakri, A.H.; Jalani, B.S.; Ng, K.F.

    1981-01-01

    Artificial induction of mutation in plants is carried out using #betta#-irradiation and ethyl metanesulphonate (EMS) to expand the genetic variability of locally-grown soybean. This aspect of mutation breeding complements of conventional breeding approach undertaken by the Joint Malaysia Soybean Breeding Project group. Recovery of agronomically-important mutants such as earliness, lateness, bigger seed size and improved plant architecture were recorded. The significance of these findings is discussed. (author)

  2. Latex allergy and filaggrin null mutations

    DEFF Research Database (Denmark)

    Carlsen, Berit C; Meldgaard, Michael; Hamann, Dathan

    2011-01-01

    to aeroallergens and it is possible that filaggrin null mutations also increase the risk of latex allergy. The aim of this paper was to examine the association between filaggrin null mutations and type I latex allergy. Methods Twenty latex allergic and 24 non-latex allergic dentists and dental assistants...... in the cases in this study may not have occurred through direct skin contact but through the respiratory organs via latex proteins that are absorbed in glove powder and aerosolized...

  3. Mutation breeding of autotetraploid Achimenes cultivars

    International Nuclear Information System (INIS)

    Broertjes, C.

    1976-01-01

    Colchicine-induced autotetraploids of three Achimenes cultivars were irradiated with X-rays or fast neutrons. The results were compared, in one cultivar, with those of the irradiated diploid form. The mutation frequency after irradiation of the autotetraploid was a 20-40 fold higher as compared to the corresponding diploid. These results may open new possibilities for mutation breeding, though they are hard to explain. Several promising mutants were selected. (author)

  4. Exploring the common molecular basis for the universal DNA mutation bias: Revival of Loewdin mutation model

    International Nuclear Information System (INIS)

    Fu, Liang-Yu; Wang, Guang-Zhong; Ma, Bin-Guang; Zhang, Hong-Yu

    2011-01-01

    Highlights: → There exists a universal G:C → A:T mutation bias in three domains of life. → This universal mutation bias has not been sufficiently explained. → A DNA mutation model proposed by Loewdin 40 years ago offers a common explanation. -- Abstract: Recently, numerous genome analyses revealed the existence of a universal G:C → A:T mutation bias in bacteria, fungi, plants and animals. To explore the molecular basis for this mutation bias, we examined the three well-known DNA mutation models, i.e., oxidative damage model, UV-radiation damage model and CpG hypermutation model. It was revealed that these models cannot provide a sufficient explanation to the universal mutation bias. Therefore, we resorted to a DNA mutation model proposed by Loewdin 40 years ago, which was based on inter-base double proton transfers (DPT). Since DPT is a fundamental and spontaneous chemical process and occurs much more frequently within GC pairs than AT pairs, Loewdin model offers a common explanation for the observed universal mutation bias and thus has broad biological implications.

  5. The Oenothera plastome mutator: effect of UV irradiation and nitroso-methyl urea on mutation frequencies

    International Nuclear Information System (INIS)

    Sears, B.B.; Sokalski, M.B.

    1991-01-01

    Oenothera plants homozygous for a recessive plastome mutator allele (pm) showed spontaneous mutation frequencies for plastome genes that are 200-fold higher than spontaneous levels. Mutations occurred at high frequencies in plants grown in the field, in a glasshouse, or as leaf tip cultures under fluorescent light, indicating that the plastome mutator activity is UV-independent. However, the chlorotic sectors became visible at an earlier stage of development when seedlings were irradiated, compared to seedlings that were not exposed to UV. These results imply that the rate of sorting-out was increased by the irradiation treatment, possibly due to a decrease in the effective number of multiplication-competent plastids, or a reduction in the extent of cytoplasmic mixing. Nitroso-methyl urea treatment of seeds had a dramatic effect on mutation frequency in both wild-type and plastome mutator samples. When the background mutation rates were low, the combination of the plastome mutator nucleus and the chemical mutagenesis treatment resulted in a synergistic effect, suggesting that the plastome mutator may involve a cpDNA repair pathway. (author)

  6. Diploid yeast cells yield homozygous spontaneous mutations

    Science.gov (United States)

    Esposito, M. S.; Bruschi, C. V.; Brushi, C. V. (Principal Investigator)

    1993-01-01

    A leucine-requiring hybrid of Saccharomyces cerevisiae, homoallelic at the LEU1 locus (leu1-12/leu1-12) and heterozygous for three chromosome-VII genetic markers distal to the LEU1 locus, was employed to inquire: (1) whether spontaneous gene mutation and mitotic segregation of heterozygous markers occur in positive nonrandom association and (2) whether homozygous LEU1/LEU1 mutant diploids are generated. The results demonstrate that gene mutation of leu1-12 to LEU1 and mitotic segregation of heterozygous chromosome-VII markers occur in strong positive nonrandom association, suggesting that the stimulatory DNA lesion is both mutagenic and recombinogenic. In addition, genetic analysis of diploid Leu+ revertants revealed that approximately 3% of mutations of leu1-12 to LEU1 result in LEU1/LEU1 homozygotes. Red-white sectored Leu+ colonies exhibit genotypes that implicate post-replicational chromatid breakage and exchange near the site of leu1-12 reversion, chromosome loss, and subsequent restitution of diploidy, in the sequence of events leading to mutational homozygosis. By analogy, diploid cell populations can yield variants homozygous for novel recessive gene mutations at biologically significant rates. Mutational homozygosis may be relevant to both carcinogenesis and the evolution of asexual diploid organisms.

  7. The Mutations Associated with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  8. Apparent directional selection by biased pleiotropic mutation.

    Science.gov (United States)

    Tanaka, Yoshinari

    2010-07-01

    Pleiotropic effects of deleterious mutations are considered to be among the factors responsible for genetic constraints on evolution by long-term directional selection acting on a quantitative trait. If pleiotropic phenotypic effects are biased in a particular direction, mutations generate apparent directional selection, which refers to the covariance between fitness and the trait owing to a linear association between the number of mutations possessed by individuals and the genotypic values of the trait. The present analysis has shown how the equilibrium mean value of the trait is determined by a balance between directional selection and biased pleiotropic mutations. Assuming that genes act additively both on the trait and on fitness, the total variance-standardized directional selection gradient was decomposed into apparent and true components. Experimental data on mutation bias from the bristle traits of Drosophila and life history traits of Daphnia suggest that apparent selection explains a small but significant fraction of directional selection pressure that is observed in nature; the data suggest that changes induced in a trait by biased pleiotropic mutation (i.e., by apparent directional selection) are easily compensated for by (true) directional selection.

  9. Study on space mutation breeding of rice

    International Nuclear Information System (INIS)

    Xu Jianlong; Lin Yizi; Xi Yongan; Jiang Xingcun; Li Jinguo

    1997-01-01

    Air-dried seeds of rice variety ZR9 were carried by high altitude balloon (HAB) and recoverable satellite (RS) for space mutation. Mutagentic effects of high altitude environment (HAE) of 30∼38 km and outer space environment (OSE) of 218∼326 km above sea level on rice plant were studied. The results indicated that the germination percentage (GP) of seeds was obviously lower than that of the controls. the mutation in plant height (PH) and growth period duration (GPD) of SP 1 carried by HAB were induced. However, the GP of seeds and characters of SP 1 carried by RS had no evident change. More stronger segregation of major characters such as PH, GPD and length of panicle, appeared in the two SP 2 generations resulting from HAB and RS. And their mutation frequency were 4.31% and 4.10% respectively. Mutation lines selected from the two mutation progenies improved significantly in PH, GPD, disease resistance and yield. Therefore, space mutation could be considered as a new breeding method

  10. TOX3 mutations in breast cancer.

    Directory of Open Access Journals (Sweden)

    James Owain Jones

    Full Text Available TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs in six primary tumours, corresponding to an overall mutation frequency of 4.5%. One potentially deleterious missense mutation in exon 3 (Leu129Phe was identified in one tumour (genomic DNA and cDNA. Whilst copy number changes of 16q12 are common in breast cancer, our data show that mutations of TOX3 are present at low frequency in tumours. Our results support that TOX3 should be further investigated to elucidate its role in breast cancer biology.

  11. Higher prevalence of KRAS mutations in colorectal cancer in Saudi ...

    African Journals Online (AJOL)

    We studied retrospectively tumor samples of 83 Saudi metastatic CRC patients for KRAS mutations in codon 12 and codon 13, to evaluate the relevance of KRAS mutation positive colorectal cancers with metastatic sites. KRAS mutation was observed in 42.2% (35/83) patients with CRC. The most common mutations were in ...

  12. Experimental evolution and the dynamics of genomic mutation rate modifiers.

    Science.gov (United States)

    Raynes, Y; Sniegowski, P D

    2014-11-01

    Because genes that affect mutation rates are themselves subject to mutation, mutation rates can be influenced by natural selection and other evolutionary forces. The population genetics of mutation rate modifier alleles has been a subject of theoretical interest for many decades. Here, we review experimental contributions to our understanding of mutation rate modifier dynamics. Numerous evolution experiments have shown that mutator alleles (modifiers that elevate the genomic mutation rate) can readily rise to high frequencies via genetic hitchhiking in non-recombining microbial populations. Whereas these results certainly provide an explanatory framework for observations of sporadically high mutation rates in pathogenic microbes and in cancer lineages, it is nonetheless true that most natural populations have very low mutation rates. This raises the interesting question of how mutator hitchhiking is suppressed or its phenotypic effect reversed in natural populations. Very little experimental work has addressed this question; with this in mind, we identify some promising areas for future experimental investigation.

  13. The risk of extinction - the mutational meltdown or the overpopulation

    OpenAIRE

    Malarz, K.

    2006-01-01

    The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented. The extinction phase may be caused by either mutational meltdown or overpopulation. When the Verhulst factor is responsible for removing only newly born babies and does not act on adults the overpopulation is avoided and only genetic factors may lead to species extinction.

  14. The risk of extinction - the mutational meltdown or the overpopulation.

    Science.gov (United States)

    Malarz, Krzysztof

    2007-04-01

    The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented. The extinction phase may be caused by either mutational meltdown or overpopulation. When the Verhulst factor is responsible for removing only newly born babies and does not act on adults the overpopulation is avoided and only genetic factors may lead to species extinction.

  15. New mutations in APOB100 involved in familial hypobetalipoproteinemia

    DEFF Research Database (Denmark)

    Brusgaard, Klaus; Kjaersgaard, Lars; Hansen, Anne-Birthe Bo

    2011-01-01

    Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins....... Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation....

  16. Recurrent and founder mutations in the PMS2 gene.

    Science.gov (United States)

    Tomsic, J; Senter, L; Liyanarachchi, S; Clendenning, M; Vaughn, C P; Jenkins, M A; Hopper, J L; Young, J; Samowitz, W; de la Chapelle, A

    2013-03-01

    Germline mutations in PMS2 are associated with Lynch syndrome (LS), the most common known cause of hereditary colorectal cancer. Mutation detection in PMS2 has been difficult due to the presence of several pseudogenes, but a custom-designed long-range PCR strategy now allows adequate mutation detection. Many mutations are unique. However, some mutations are observed repeatedly across individuals not known to be related due to the mutation being either recurrent, arising multiple times de novo at hot spots for mutations, or of founder origin, having occurred once in an ancestor. Previously, we observed 36 distinct mutations in a sample of 61 independently ascertained Caucasian probands of mixed European background with PMS2 mutations. Eleven of these mutations were detected in more than one individual not known to be related and of these, six were detected more than twice. These six mutations accounted for 31 (51%) ostensibly unrelated probands. Here, we performed genotyping and haplotype analysis in four mutations observed in multiple probands and found two (c.137G>T and exon 10 deletion) to be founder mutations and one (c.903G>T) a probable founder. One (c.1A>G) could not be evaluated for founder mutation status. We discuss possible explanations for the frequent occurrence of founder mutations in PMS2. © 2012 John Wiley & Sons A/S.

  17. Volatility of Mutator Phenotypes at Single Cell Resolution.

    Directory of Open Access Journals (Sweden)

    Scott R Kennedy

    2015-04-01

    Full Text Available Mutator phenotypes accelerate the evolutionary process of neoplastic transformation. Historically, the measurement of mutation rates has relied on scoring the occurrence of rare mutations in target genes in large populations of cells. Averaging mutation rates over large cell populations assumes that new mutations arise at a constant rate during each cell division. If the mutation rate is not constant, an expanding mutator population may contain subclones with widely divergent rates of evolution. Here, we report mutation rate measurements of individual cell divisions of mutator yeast deficient in DNA polymerase ε proofreading and base-base mismatch repair. Our data are best fit by a model in which cells can assume one of two distinct mutator states, with mutation rates that differ by an order of magnitude. In error-prone cell divisions, mutations occurred on the same chromosome more frequently than expected by chance, often in DNA with similar predicted replication timing, consistent with a spatiotemporal dimension to the hypermutator state. Mapping of mutations onto predicted replicons revealed that mutations were enriched in the first half of the replicon as well as near termination zones. Taken together, our findings show that individual genome replication events exhibit an unexpected volatility that may deepen our understanding of the evolution of mutator-driven malignancies.

  18. MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients

    NARCIS (Netherlands)

    de Laat, Joanne M.; van der Luijt, Rob B.; Pieterman, Carolina R. C.; Oostveen, Maria P.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Vriens, Menno R.; Valk, Gerlof D.

    2016-01-01

    Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is

  19. MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients

    NARCIS (Netherlands)

    de Laat, Joanne M; van der Luijt, Rob B; Pieterman, Carolina R C; Oostveen, Maria P; Hermus, Ad R; Dekkers, Olaf M; de Herder, Wouter W; van der Horst-Schrivers, Anouk N; Drent, Madeleine L; Bisschop, Peter H; Havekes, Bas; Vriens, Menno R; Valk, Gerlof D

    2016-01-01

    BACKGROUND: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative

  20. MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients

    NARCIS (Netherlands)

    de Laat, Joanne M.; van der Luijt, Rob B.; Pieterman, Carolina R. C.; Oostveen, Maria P.; Hermus, Ad R.; Dekkers, Olaf M.; de Herder, Wouter W.; van der Horst-Schrivers, Anouk N.; Drent, Madeleine L.; Bisschop, Peter H.; Havekes, Bas; Vriens, Menno R.; Valk, Gerlof D.

    2016-01-01

    Background: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative