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Sample records for 3p 5q 17p

  1. Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

    Arcos-Burgos, Mauricio; Castellanos, F. Xavier; Pineda, David; Lopera, Francisco; David Palacio, Juan; Guillermo Palacio, Luis; Rapoport, Judith L.; Berg, Kate; Bailey-Wilson, Joan E.; Muenke, Maximilian

    2004-01-01

    Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is the most common behavioral disorder of childhood. Twin, adoption, segregation, association, and linkage studies have confirmed that genetics plays a major role in conferring susceptibility to ADHD. We applied model-based and model-free linkage analyses, as well as the pedigree disequilibrium test, to the results of a genomewide scan of extended and multigenerational families with ADHD from a genetic isolate. In these families, ADHD is highly comorbid with conduct and oppositional defiant disorders, as well as with alcohol and tobacco dependence. We found evidence of linkage to markers at chromosomes 4q13.2, 5q33.3, 8q11.23, 11q22, and 17p11 in individual families. Fine mapping applied to these regions resulted in significant linkage in the combined families at chromosomes 4q13.2 (two-point allele-sharing LOD score from LODPAL = 4.44 at D4S3248), 5q33.3 (two-point allele-sharing LOD score from LODPAL = 8.22 at D5S490), 11q22 (two-point allele-sharing LOD score from LODPAL = 5.77 at D11S1998; multipoint nonparametric linkage [NPL] −log [P value] = 5.49 at ∼128 cM), and 17p11 (multipoint NPL −log [P value] >12 at ∼12 cM; multipoint maximum location score 2.48 [α = 0.10] at ∼12 cM; two-point allele-sharing LOD score from LODPAL = 3.73 at D17S1159). Additionally, suggestive linkage was found at chromosome 8q11.23 (combined two-point NPL−log [P value] >3.0 at D8S2332). Several of these regions are novel (4q13.2, 5q33.3, and 8q11.23), whereas others replicate already-published loci (11q22 and 17p11). The concordance between results from different analytical methods of linkage and the replication of data between two independent studies suggest that these loci truly harbor ADHD susceptibility genes. PMID:15497111

  2. RECENT ADVANCES IN THE 5Q- SYNDROME

    Andrea Pellagatti

    2015-05-01

    Full Text Available The 5q- syndrome is the most distinct of the myelodysplastic syndromes (MDS and patients with this disorder have a deletion of chromosome 5q [del(5q] as the sole karyotypic abnormality. Several genes mapping to the commonly deleted region of the 5q- syndrome have been implicated in disease pathogenesis in recent years. Haploinsufficiency of the ribosomal gene RPS14 has been shown to cause the erythroid defect in the 5q- syndrome. Loss of the microRNA genes miR-145 and miR-146a has been associated with the thrombocytosis observed in 5q- syndrome patients. Haploinsufficiency of CSNK1A1 leads to hematopoietic stem cell expansion in mice and may play a role in the initial clonal expansion in patients with 5q- syndrome. Moreover, a subset of patients harbor mutation of the remaining CSNK1A1 allele. Mouse models of the 5q- syndrome, which recapitulate the key features of the human disease, indicate that a p53-dependent mechanism underlies the pathophysiology of this disorder. Importantly, activation of p53 has been demonstrated in the human 5q- syndrome. Recurrent TP53 mutations have been associated with an increased risk of disease evolution and with decreased response to the drug lenalidomide in del(5q MDS patients. Potential new therapeutic agents for del(5q MDS include the translation enhancer L-leucine.

  3. Main: 1B5Q [RPSD[Archive

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  4. SMA type 2 unrelated to chromosome 5q13.

    Nevo, Y; Kramer, U; Legum, C; Shomrat, R; Fatal, A; Soffer, D; Harel, S; Shapira, Y

    1998-01-13

    We describe two brothers with clinical and histological findings of type 2 spinal muscular atrophy (SMA) associated with small head circumference (protein (NAIP) deletions were detected in these sibs, and they were discordant for the haplotypes determined by DNA markers flanking the 5q13 SMA locus. These findings support the presence of a distinct anterior horn disease unrelated to 5q13. This entity may have either autosomal recessive or X-linked inheritance. PMID:9450884

  5. Cytogenetic and molecular predictors of response in patients with myeloid malignancies without del[5q] treated with lenalidomide

    Sugimoto Yuka

    2012-03-01

    Full Text Available Abstract Background While lenalidomide (LEN shows high efficacy in myelodysplastic syndromes (MDS with del[5q], responses can be also seen in patients presenting without del[5q]. We hypothesized that improved detection of chromosomal abnormalities with new karyotyping tools may better predict response to LEN. Design and methods We have studied clinical, molecular and cytogenetic features of 42 patients with MDS, myeloproliferative neoplasms (MPN, MDS/MPN overlap syndromes and secondary acute myeloid leukemia (sAML without del[5q] by metaphase cytogenetics (MC who underwent therapy with LEN. Results Fluorescence in situ hybridization (FISH or single nucleotide polymorphism array (SNP-A-based karyotyping marginally increased the diagnostic yield over MC, detecting 2/42 (4.8% additional cases with del[5q], one of whom were responded to LEN. Responses were more often observed in patients with a normal karyotype by MC (60% vs abnormal MC; 17%, p = .08 and those with gain of chromosome 8 material by either of all 3 karyotyping methods (83% vs all other chromosomal abnormalities; 44% p = .11. However, 5 out of those 6 patients received combined LEN/AZA therapy and it may also suggest those with gain of chromosome 8 material respond well to AZA. The addition of FISH or SNP-A did not improve the predictive value of normal cytogenetics by MC. Mutational analysis of TET2, UTX, CBL, EZH2, ASXL1, TP53, RAS, IDH1/2, and DNMT-3A was performed on 21 of 41 patients, and revealed 13 mutations in 11 patients, but did not show any molecular markers of responsiveness to LEN. Conclusions Normal karyotype and gain of chromosome 8 material was predictive of response to LEN in non-del[5q] patients with myeloid malignancies.

  6. 3p deletion syndrome.

    Kaur, Anupam; Khetarpal, S

    2013-08-01

    3p deletion is a rare cytogenetic finding. Here we describe a 3 months old male with congenital malformations. His karyotype revealed 3p deletion 46,XY,del(3)(p25-pter). The child had flexion deformity of wrist and elbow which has never been reported before. PMID:24036645

  7. EXTINCTION IN THE COMA OF COMET 17P/HOLMES

    On 2007 October 29, the outbursting comet 17P/Holmes passed within 0.''79 of a background star. We recorded the event using optical, narrowband photometry and detect a 3%-4% dip in stellar brightness bracketing the time of closest approach to the comet nucleus. The detected dimming implies an optical depth τ ≈ 0.04 at 1.''5 from the nucleus and an optical depth toward the nucleus center τn d = 0.006 ± 0.002 at α = 16° phase angle. Our measurements place the most stringent constraints on the extinction optical depth of any cometary coma.

  8. The duplication 17p13.3 phenotype

    Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica;

    2013-01-01

    duplications that include both the YWHAE and LIS1 genes. These patients had a relatively distinct facial phenotype and frequent structural brain abnormalities involving the corpus callosum, cerebellar vermis, and cranial base. Autism spectrum disorders were seen in a third of duplication probands, most......Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasional brain MRI abnormalities. We report 34...

  9. Transient Fragments in Outbursting Comet 17P/Holmes

    Stevenson, Rachel; Jewitt, David

    2010-01-01

    We present results from a wide-field imaging campaign at the Canada-France-Hawaii Telescope to study the spectacular outburst of comet 17P/Holmes in late 2007. Using image-processing techniques we probe inside the spherical dust coma and find sixteen fragments having both spatial distribution and kinematics consistent with isotropic ejection from the nucleus. Photometry of the fragments is inconsistent with scattering from monolithic, inert bodies. Instead, each detected fragment appears to be an active cometesimal producing its own dust coma. By scaling from the coma of the primary nucleus of 17P/Holmes, assumed to be 1.7 km in radius, we infer that the sixteen fragments have maximum effective radii between ~ 10 m and ~ 100 m on UT 2007 Nov. 6. The fragments subsequently fade at a common rate of ~ 0.2 mag/day, consistent with steady depletion of ices from these bodies in the heat of the Sun. Our characterization of the fragments supports the hypothesis that a large piece of material broke away from the nucle...

  10. Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

    Cesaretti, Claudia; Spaccini, Luigina; Righini, Andrea; Parazzini, Cecilia; Conte, Giorgio; Crosti, Francesca; Redaelli, Serena; Bulfamante, Gaetano; Avagliano, Laura; Rustico, Mariangela

    2016-05-01

    The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly. The region 5q14.3 contains several genes but the predominant role for the onset of the neurodevelopmental phenotype has been attributed to MEF2C. We describe the prenatal identification of 5q14.3 duplication, including MEF2C, in a monochorionic twin pregnancy with corpus callosum anomalies, confirmed by autopsy. To the best of our knowledge, this cerebral finding has been observed for the first time in 5q14.3 duplication patients, possibly widening the neurological picture of this scarcely known syndrome. A pathogenetic role of MEF2C overexpression in brain development may be assumed, but further studies are needed. © 2016 Wiley Periodicals, Inc. PMID:26864752

  11. Lingering grains of truth around comet 17P/Holmes

    Stevenson, R; Kramer, E A; Grav, T; Mainzer, A K; Masiero, J R

    2014-01-01

    Comet 17P/Holmes underwent a massive outburst in 2007 Oct., brightening by a factor of almost a million in under 48 hours. We used infrared images taken by the Wide-Field Survey Explorer mission to characterize the comet as it appeared at a heliocentric distance of 5.1 AU almost 3 years after the outburst. The comet appeared to be active with a coma and dust trail along the orbital plane. We constrained the diameter, albedo, and beaming parameter of the nucleus to 4.135 $\\pm$ 0.610 km, 0.03 $\\pm$ 0.01 and 1.03 $\\pm$ 0.21, respectively. The properties of the nucleus are consistent with those of other Jupiter Family comets. The best-fit temperature of the coma was 134 $\\pm$ 11 K, slightly higher than the blackbody temperature at that heliocentric distance. Using Finson-Probstein modeling we found that the morphology of the trail was consistent with ejection during the 2007 outburst and was made up of dust grains between 250 $\\mu$m and a few cm in radius. The trail mass was $\\sim$ 1.2 - 5.3 $\\times$ 10$^{10}$ kg...

  12. Lingering grains of truth around comet 17P/HOLMES

    Stevenson, R.; Bauer, J. M.; Mainzer, A. K.; Masiero, J. R. [Jet Propulsion Laboratory, California Institute of Technology, 4800 Oak Grove Drive, MS 183-427, Pasadena, CA 91109 (United States); Kramer, E. A. [Department of Physics, University of Central Florida, 4000 Central Florida Blvd, Orlando, FL 32816 (United States); Grav, T., E-mail: Rachel.A.Stevenson@jpl.nasa.gov [Planetary Science Institute, 1700 East Fort Lowell, Suite 106, Tucson, AZ 85719-2395 (United States)

    2014-06-01

    Comet 17P/Holmes underwent a massive outburst in 2007 October, brightening by a factor of almost a million in under 48 hr. We used infrared images taken by the Wide-Field Infrared Survey Explorer mission to characterize the comet as it appeared at a heliocentric distance of 5.1 AU almost 3 yr after the outburst. The comet appeared to be active with a coma and dust trail along the orbital plane. We constrained the diameter, albedo, and beaming parameter of the nucleus to 4.135 ± 0.610 km, 0.03 ± 0.01, and 1.03 ± 0.21, respectively. The properties of the nucleus are consistent with those of other Jupiter family comets. The best-fit temperature of the coma was 134 ± 11 K, slightly higher than the blackbody temperature at that heliocentric distance. Using Finson-Probstein modeling, we found that the morphology of the trail was consistent with ejection during the 2007 outburst and was made up of dust grains between 250 μm and a few cm in radius. The trail mass was ∼1.2-5.3 × 10{sup 10} kg.

  13. Water outburst activity in Comet 17P/Holmes

    de Almeida, Amaury A.; Boice, Daniel C.; Picazzio, Enos; Huebner, Walter F.

    2016-08-01

    Cometary outbursts are sporadic events whose mechanisms are not well known where the activity and consequently the brightness can increase hundreds of thousands of times within a few hours to several days. This indicates a dramatic departure from thermal equilibrium between the comet and interplanetary space and is usually documented by "light curves". In a typical cometary outburst, the brightness can increase by 2-5 magnitudes (Whitney, 1955; Gronkowski and Wesolowski, 2015). In only 42 h, Comet 17P/Holmes was reported to brighten from a magnitude of about 17 to about 2.4 at the height of the burst, representing the largest known outburst by a comet. We present the H2O production rate of Holmes for the megaburst occurring between 23 and 24 October 2007. For this, we selected more than 1900 photometric observations from the International Comet Quarterly Archive of Photometric Data (Green, 2007) and use the Semi-Empirical Method of Visual Magnitudes (SEMVM; de Almeida et al., 2007). We clearly show that the comet achieved an average water production rate of 5 × 1029 molecules s-1, corresponding to a water gas loss rate of 14,960 kg s-1, in very good agreement with Schleicher (2009) who derived the water production rate using OH measurements on 1 Nov 2007 (about 8 days after the outburst). We discuss possible physical processes that might cause cometary outbursts and propose a new qualitative mechanism, the Pressurized Obstructed Pore (POP) model. The key feature of POP is the recrystallization of water in the surface regolith as it cools, plugging pores and blocking the release of subsurface gas flow. As the interior gas pressure increases, an outburst is eventually triggered. POP is consistent with current observations and can be tested in the future with observations (e.g., Rosetta in situ measurements) and detailed simulations.

  14. A family with an inverted tandem duplication 5q22.1q23.2.

    Schmidt, T; Bartels, I; Liehr, T; Burfeind, P; Zoll, B; Shoukier, M

    2013-01-01

    Here, we report a 3-year-old boy with short stature, developmental delay and mild facial dysmorphic signs. Karyotype analysis and array-CGH revealed a pure duplication 5q22.1q23.2 with a length of 14.25 Mb. As demonstrated by multicolor-fluorescence in situ hybridization, the duplicated segment was orientated in an inverted tandem manner. One of the 2 older half-brothers of the index patient was intellectually disabled and showed short stature as well. The mother of the siblings was only 149 cm in height. The affected half-brother as well as the mother of the siblings were tested positive for the same duplication. Duplications of the long arm of chromosome 5 are rare. There are 16 reported cases of different 5q segments with a pure duplication and no additional chromosomal imbalance. In order to refine the 5q-duplication phenotype, reported cases were recently classified in 3 groups on the basis of clinical findings and the involved chromosome segments. However, our case does not fit in any of these groups but is placed in the interjacent chromosomal area between 2 of these groups. Overall, this is the second reported family with a duplication of 5q22.1q23.2 and both families share phenotypic features like short stature, facial dysmorphic signs and speech delay. The reported family provides further information for delineating phenotype-genotype correlations of pure duplications of the 5q region. PMID:23051634

  15. Cytogenetic and molecular cytogenetic findings in 43 aneurysmal bone cysts: aberrations of 17p mapped to 17p13.2 by fluorescence in situ hybridization.

    Althof, Pamela A; Ohmori, Kazuo; Zhou, Ming; Bailey, Jacqueline M; Bridge, R Stuart; Nelson, Marilu; Neff, James R; Bridge, Julia A

    2004-05-01

    Aneurysmal bone cyst is a benign, cystic lesion of bone composed of blood-filled spaces separated by fibrous septa. Relatively few cases of aneurysmal bone cyst have been cytogenetically characterized, yet abnormalities of the short arm of chromosome 17 appear to be recurrent. In this study, conventional cytogenetic analysis of 43 aneurysmal bone cyst specimens from 38 patients over a 12-year period revealed clonal chromosomal abnormalities in 12 specimens. Karyotypic anomalies of 17p, including a complex translocation and inversion, were identified in eight of these 12 specimens. In an effort to further define the aberrant 17p breakpoint, fluorescence in situ hybridization (FISH) analyses were performed using a series of probe combinations spanning a 5.1 Mb region between the TP53 (17p13.1) and Miller-Dieker lissencephaly syndrome (17p13.3) gene loci. These studies revealed the critical breakpoint locus at 17p13.2, flanked proximally by an RP11-46I8, RP11-333E1, and RP11-457I18 bacterial artificial chromosome (BAC) probe cocktail and distally by an RP11-198F11 and RP11-115H24 BAC and RP5-1050D4 P1 artificial chromosome (PAC) probe cocktail. Overall, abnormalities of the 17p13.2 locus were identified by metaphase and/or interphase cell FISH analysis in 22 of 35 (63%) aneurysmal bone cyst specimens examined including 26 karyotypically normal specimens. These cytogenetic and molecular cytogenetic findings expand our knowledge of chromosomal alterations in aneurysmal bone cyst, further localize the critically involved 17p breakpoint, and provide an alternative approach (ie FISH) for detecting 17p abnormalities in nondividing cells of aneurysmal bone cysts. The latter could potentially be utilized as an adjunct in diagnostically challenging cases. PMID:15044915

  16. Attention-Deficit/Hyperactivity Disorder in a Population Isolate: Linkage to Loci at 4q13.2, 5q33.3, 11q22, and 17p11

    Arcos-Burgos, Mauricio; Castellanos, F. Xavier; Pineda, David; Lopera, Francisco; David Palacio, Juan; Guillermo Palacio, Luis; Rapoport, Judith L.; BERG, KATE; Bailey-Wilson, Joan E.; Muenke, Maximilian

    2004-01-01

    Attention-deficit/hyperactivity disorder (ADHD [MIM 143465]) is the most common behavioral disorder of childhood. Twin, adoption, segregation, association, and linkage studies have confirmed that genetics plays a major role in conferring susceptibility to ADHD. We applied model-based and model-free linkage analyses, as well as the pedigree disequilibrium test, to the results of a genomewide scan of extended and multigenerational families with ADHD from a genetic isolate. In these families, AD...

  17. Duplication of 5q21 in a mildly retarded male and his non-retarded mother

    Stallard, R.; Zurcher, V.; Schwartz, S. [Case Western Reserve Univ., Cleveland, OH (United States)

    1994-09-01

    Euchromatic autosomal additions to chromosomal complements are typically associated with global effects including mental retardation (MR) and dysmorphism. We report a familial duplication that does not appear to cause consistent, significant effects. A hyperactive male with mild MR was referred for fra(X) testing at 8 yrs. His karyotype was fra(X) negative and normal except for an addition in one 5q. The abnormal 5 was also in the maternal karyotype, but all other parental chromosomes were normal. The addition (=8.5% the length of a 5) was interpreted as a duplication of band 5q21. FISH with Coatasome 5 (Oncor) showed the addition was from 5. The proband`s karyotype was designated 46,XY,dup(5)(q15q22.1)mat; his mother`s, 46,XX,dup(5)(q15q22.1). Single copy probes are being used to test the cytogenetic interpretation. At 39 yrs, the non-retarded, somewhat inattentive mother, who has a high school diploma and subsequent secretarial courses, cares for the proband and his chromosomally normal, but learning disabled sister at home. The family situation is chaotic with reported paternal psychiatric illness and abuse of the proband and his sister. The mother`s father is dead, but her four younger siblings and mother are reportedly normal. Their chromosomes have not been available. The proband was born at 40 weeks following an uneventful pregnancy, with length and weight at the 5-10th centiles. He walked and talked at about one year. At 9 yrs, his ht/wt ratio was 10th centile. Foot length as <3rd centile; soft masses were present on the anterior ankles. He was otherwise physically normal. His estimated I.Q. was 75 and he was severely hyperactive despite Ritalin. This is the first report of a familial duplication in 5q; no identical, isolated case is known. Although additional family members need evaluation, the presence of the dup(5q) in the non-retarded mother suggests that it may not be associated with the proband`s MR.

  18. 17 CFR 170.10 - Proficiency examinations (sections 4p and 17(p) of the Act).

    2010-04-01

    ... 17 Commodity and Securities Exchanges 1 2010-04-01 2010-04-01 false Proficiency examinations (sections 4p and 17(p) of the Act). 170.10 Section 170.10 Commodity and Securities Exchanges COMMODITY... examinations (sections 4p and 17(p) of the Act). A futures association may prescribe different...

  19. LOSS OF HETEROZYGOSITY ON CHROMOSOME 17p13.3 IN OVARIAN CANCER AND CERVICAL CANCER

    Zhang Guoling; Yang Huijian; Xu Kaili; Zhou Jin; Qin Ruidi; Lu Minghua

    1998-01-01

    Objective:To identify the loss of heterozygosity (LOH) on chromosome 17p13.3 in ovarian cancer and cervical cancer. Methods: The frequency of LOH on chromosome 17p13.3 in DNA samples from 24 ovarian cancers, 9 cervical cancers, and 13 non-malignant gynecological diseases were determined respectively, using Southern blot method with probe PYNZ.22. Results:LOH on 17p13.3 was found in 12 of 24 (50.0%) ovarian cancers (including a borderline mucinous cystadenoma), 4of 9 (44.4%) cervical carcinomas, and 1 of 13 (7.7%) nonmalignant gynecological diseases, which was cervical intraepithelial neoplasm HI (CIN Ⅲ) (P<0.01).Conclusion: These results show that LOH on 17p13.3 is associated with ovarian cancer and cervical cancer,suggesting that detection of LOH on 17p13.3 may be helpful to understand the molecular pathogenesis of ovarian cancer and cervical cancer.

  20. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

    Ryan, S. G.; Dixon, M J; Nigro, M A; Kelts, K A; Markand, O N; Terry, J C; Shiang, R; Wasmuth, J J; O'Connell, P

    1992-01-01

    Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight...

  1. An unusual combination of trisomy 21 and partial trisomy 5q.

    Kim, C J; Chi, J. G.; K. H. Lee; Lee, C. K.; Yoo, M. S.; Paik, Y K

    1992-01-01

    The authors describe a male newborn with multiple congenital anomalies; craniofacial dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance compared with Down's syndrome and hitherto reported par...

  2. Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure

    Smith, J. Gustav; Felix, Janine F.; Morrison, Alanna C.; Kalogeropoulos, Andreas; Trompet, Stella; Wilk, Jemma B.; Gidlöf, Olof; Wang, Xinchen; Morley, Michael; Mendelson, Michael; Joehanes, Roby; Ligthart, Symen; Shan, Xiaoyin; Bis, Joshua C.; Wang, Ying A.

    2016-01-01

    Failure of the human heart to maintain sufficient output of blood for the demands of the body, heart failure, is a common condition with high mortality even with modern therapeutic alternatives. To identify molecular determinants of mortality in patients with new-onset heart failure, we performed a meta-analysis of genome-wide association studies and follow-up genotyping in independent populations. We identified and replicated an association for a genetic variant on chromosome 5q22 with 36% i...

  3. Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

    Jamsheer Aleksander

    2013-01-01

    Full Text Available Abstract Background A partial duplication of the distal long arm of chromosome 5 (5q35-- > qter is known to be associated with a distinct phenotype referred to as Hunter-McAlpine syndrome. Clinical spectrum of this disorder mainly consists of mental retardation, microcephaly, short stature, skeletal anomalies, and craniofacial dysmorphism featuring flat facies, micrognathia, large, low-set dysplastic ears, hypertelorism, almond-shaped, down-slanted palpebral fissures, epicanthal folds, small nose, long philtrum, small mouth, and thin upper lip. Less frequent remarkable findings include craniosynostosis, heart defect, hypoplastic phalanges, preaxial polydactyly, hypospadias, cryptorchidism, and inguinal hernia. In most patients with a partial duplication of 5q the aberration occurred due to an inherited unbalanced translocation, therefore the phenotype was not reflective of pure trisomy 5q. Case presentation We report on a 9.5-year-old boy with some feature of Hunter-McAlpine syndrome including short stature, complex heart defect (dextrocardia, dextroversion, PFO, bilateral cryptorchidism, hypothyroidism, and craniofacial dysmorphism. Additionally, bilateral radial agenesis with complete absence of Ist digital rays, ulnar hypoplasia with bowing, choroidal and retinal coloboma, abnormal biliary vesicle were identified, which have never been noted in 5q trisomy patients. Karyotype analysis, sequencing and MLPA for TBX5 and SALL4 genes were unremarkable. Array comparative genomic hybridization detected a duplication on 5q35.2-5q35.3, resulting from a de novo chromosomal rearrangement. Our proband carried the smallest of all previously reported pure distal 5q trisomies encompassing terminal 5.4-5.6 Mb and presented with the most severe limb malformation attributed to the increased number of distal 5q copies. Conclusions We postulate that a terminal distal trisomy of 5q35.2-5q35.3, which maps 1.1 Mb telomeric to the MSX2 gene is causative for both

  4. Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

    Ryan, S.G.; O' Connell, P. (Univ. of Texas Health Science Center, San Antonio (United States)); Dixon, M.J. (Univ. of Manchester (United Kingdom)); Nigro, M.A. (Wayne State Univ., Detroit, MI (United States)); Kelts, K.A. (Black Hills Neurology, Rapid City, SD (United States)); Markand, O.N. (Indiana Univ., Indianopolis (United States)); Shiang, R.; Wasmuth, J.J. (Univ. of California, Irvine (United States)); Terry, J.C.

    1992-12-01

    Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. The authors performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region. 45 refs., 4 figs., 4 tabs.

  5. Chromosome 17p deletion in human medulloblastoma: a missing checkpoint in the Hedgehog pathway.

    De Smaele, Enrico; Di Marcotullio, Lucia; Ferretti, Elisabetta; Screpanti, Isabella; Alesse, Edoardo; Gulino, Alberto

    2004-10-01

    Although deregulation of Hedgehog signalling is considered to play a crucial oncogenic role and commonly occurrs in medulloblastoma, genetic lesions in components of this pathway are observed in a minority of cases. The recent identification of a novel putative tumor suppressor (REN(KCTD11)) on chromosome 17p13.2, a region most frequently lost in human medulloblastoma, highlights the role of allelic deletion of the gene in this brain malignancy, leading to the loss of growth inhibitory activity via suppression of Gli-dependent activation of Hedgehog target genes. The presence on 17p13 of another tumor suppressor gene (p53) whose inactivation cooperates with Hedgehog pathway for medulloblastoma formation, suggests that 17p deletion unveils haploinsufficiency conditions leading to abrogation of either direct and indirect checkpoints of Hedgehog signalling in cancer. PMID:15467454

  6. Variation in conserved non-coding sequences on chromosome 5q andsusceptibility to asthma and atopy

    Donfack, Joseph; Schneider, Daniel H.; Tan, Zheng; Kurz,Thorsten; Dubchak, Inna; Frazer, Kelly A.; Ober, Carole

    2005-09-10

    Background: Evolutionarily conserved sequences likely havebiological function. Methods: To determine whether variation in conservedsequences in non-coding DNA contributes to risk for human disease, westudied six conserved non-coding elements in the Th2 cytokine cluster onhuman chromosome 5q31 in a large Hutterite pedigree and in samples ofoutbred European American and African American asthma cases and controls.Results: Among six conserved non-coding elements (>100 bp,>70percent identity; human-mouse comparison), we identified one singlenucleotide polymorphism (SNP) in each of two conserved elements and sixSNPs in the flanking regions of three conserved elements. We genotypedour samples for four of these SNPs and an additional three SNPs each inthe IL13 and IL4 genes. While there was only modest evidence forassociation with single SNPs in the Hutterite and European Americansamples (P<0.05), there were highly significant associations inEuropean Americans between asthma and haplotypes comprised of SNPs in theIL4 gene (P<0.001), including a SNP in a conserved non-codingelement. Furthermore, variation in the IL13 gene was strongly associatedwith total IgE (P = 0.00022) and allergic sensitization to mold allergens(P = 0.00076) in the Hutterites, and more modestly associated withsensitization to molds in the European Americans and African Americans (P<0.01). Conclusion: These results indicate that there is overalllittle variation in the conserved non-coding elements on 5q31, butvariation in IL4 and IL13, including possibly one SNP in a conservedelement, influence asthma and atopic phenotypes in diversepopulations.

  7. Functional effects of 17alpha-hydroxyprogesterone caproate (17P on human myometrial contractility in vitro

    Morrison John J

    2004-12-01

    Full Text Available Abstract Background 17alpha-hydroxyprogesterone caproate (17P administration reportedly improves outcome for women with a previous spontaneous preterm delivery. This study, using in vitro strips of human uterine smooth muscle, aimed to investigate the direct non-genomic effects of 17P on spontaneous and induced contractions in tissues obtained during pregnancy, and in the non-pregnant state. Methods Biopsies of human myometrium were obtained at elective cesarean section, and from hysterectomy specimens, and dissected strips suspended for isometric recordings. The effects of 17P (1 nmol/L -10 micro mol/L on spontaneous and agonist-induced (oxytocin 0.5 nmol/L for pregnant, phenylephrine 10 μmol/L for non-pregnant contractions were measured. Integrals of contractile activity, including the mean maximal inhibition values (MMI observed at the maximal concentration, were compared with those from simultaneously run control strips. Results There was no significant direct effect exerted by 17P on pregnant or non-pregnant human myometrial contractility. The MMI ± SEM for spontaneous contractions in pregnant myometrium was 4.9% ± 7.2 (n = 6; P = 0.309 and for oxytocin-induced contractions was 2.2% ± 1.3 (n = 6; P = 0.128. For non-pregnant myometrium, the MMI ± SEM for spontaneous contractions was 8.8% ± 11.0 (n = 6; P = 0.121 and for phenylephrine induced contractions was -7.9% ± 6.5 (n = 6; P = 0.966. Conclusions The putative benefits of 17P for preterm labor prevention are not achieved, even partially, by a direct utero-relaxant effect. These findings outline the possibility that genomic effects of 17P, achieved over long periods of administration, are required for its reported therapeutic benefits.

  8. Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure

    Smith, J. Gustav; Felix, Janine F.; Morrison, Alanna C.; Trompet, Stella; Wilk, Jemma B.; Gidlöf, Olof; Morley, Michael; Joehanes, Roby; Ligthart, Symen; Shan, Xiaoyin; Bis, Joshua C.; Sjögren, Marketa; Ngwa, Julius; Stott, David J.; Aguilar, David; Rice, Kenneth M.; Sesso, Howard D.; Demissie, Serkalem; Buckley, Brendan M.; Taylor, Kent D.; Ford, Ian; Yao, Chen; Liu, Chunyu; Sotoodehnia, Nona; van der Harst, Pim; Stricker, Bruno H. Ch.; Kritchevsky, Stephen B.; Liu, Yongmei; Gaziano, J. Michael; Hofman, Albert; Moravec, Christine S.; Uitterlinden, André G.; Kellis, Manolis; van Meurs, Joyce B.; Margulies, Kenneth B.; Dehghan, Abbas; Levy, Daniel; Olde, Björn; Psaty, Bruce M.; Cupples, L. Adrienne; Jukema, J. Wouter; Djousse, Luc; Franco, Oscar H.; Boerwinkle, Eric; Boyer, Laurie A.; Newton-Cheh, Christopher; Butler, Javed; Vasan, Ramachandran S.; Cappola, Thomas P.; Smith, Nicholas L.

    2016-01-01

    Failure of the human heart to maintain sufficient output of blood for the demands of the body, heart failure, is a common condition with high mortality even with modern therapeutic alternatives. To identify molecular determinants of mortality in patients with new-onset heart failure, we performed a meta-analysis of genome-wide association studies and follow-up genotyping in independent populations. We identified and replicated an association for a genetic variant on chromosome 5q22 with 36% increased risk of death in subjects with heart failure (rs9885413, P = 2.7x10-9). We provide evidence from reporter gene assays, computational predictions and epigenomic marks that this polymorphism increases activity of an enhancer region active in multiple human tissues. The polymorphism was further reproducibly associated with a DNA methylation signature in whole blood (P = 4.5x10-40) that also associated with allergic sensitization and expression in blood of the cytokine TSLP (P = 1.1x10-4). Knockdown of the transcription factor predicted to bind the enhancer region (NHLH1) in a human cell line (HEK293) expressing NHLH1 resulted in lower TSLP expression. In addition, we observed evidence of recent positive selection acting on the risk allele in populations of African descent. Our findings provide novel genetic leads to factors that influence mortality in patients with heart failure. PMID:27149122

  9. Energy and Auger Widths of Triply Excited 3p3p3p 2po State of Lithium

    苟秉聪; 俞开智

    2003-01-01

    The high-lying triply excited 3p3p3p 2po state of the double hollow lithium atom is studied by using the saddlepoint complex-rotation method. The energy and Auger widths of this resonance are calculated. The relativistic corrections and mass polarization are included. The total Auger width is obtained by coupling the important open channels and summing over the other channels. The oscillator strength is also calculated. The results are compared with other theoretical and experimental data in the literature.

  10. p53 protein expression independently predicts outcome in patients with lower-risk myelodysplastic syndromes with del(5q)

    Saft, L.; Karimi, M.; Ghaderi, M.; Matolcsy, A.; Mufti, G.J.; Kulasekararaj, A.; Gohring, G.; Giagounidis, A.; Selleslag, D.; Muus, P.; Sanz, G.; Mittelman, M.; Bowen, D.; Porwit, A.; Fu, T.; Backstrom, J.; Fenaux, P.; MacBeth, K.J.; Hellstrom-Lindberg, E.

    2014-01-01

    Del(5q) myelodysplastic syndromes defined by the International Prognostic Scoring System as low- or intermediate-1-risk (lower-risk) are considered to have an indolent course; however, recent data have identified a subgroup of these patients with more aggressive disease and poorer outcomes. Using de

  11. Cancer of the ampulla of Vater: chromosome 17p allelic loss is associated with poor prognosis

    Scarpa, A.; Di, P; Talamini, G; Falconi, M; Lemoine, N; Iacono, C.; Achille, A.; Baron, A; Zamboni, G

    2000-01-01

    BACKGROUND—Cancer of the ampulla of Vater kills 60% of affected patients. Local spread of the tumour (T stage) is the only reliable prognostic factor. Nevertheless, any cancer stage includes long term survivors and patients dying from the disease. The molecular anomalies involved in this process have the potential to serve as additional prognostic markers.
AIM—To evaluate if allelic losses (LOH) of chromosomes 17p and 18q may be of prognostic value in multivariate survival analysis.
METHODS—W...

  12. Association analysis of GABA receptor subunit genes on 5q33 with heroin dependence in a Chinese male population.

    Loh, E W; Tang, N L S; Lee, D T S; Liu, S I; Stadlin, Alfreda

    2007-06-01

    GABAA receptor subunit genes clustered on 5q33 play a role in the development of alcoholism and methamphetamine use disorder without psychosis. The present study explored the possible contribution of the same subunit genes to the development of heroin dependence. Single nucleotide polymorphisms (SNPs) of the GABAA receptor subunits GABRB2, GABRA6, GABRA1, and GABRG2 were examined in 178 male Han Chinese heroin-dependent and 170 male control subjects. A significant difference in allele frequency for the SNP rs211014 in the GABAAgamma2 receptor subunit gene between cases and controls was identified (P = 0.015). A possible mechanism for the involvement of the GABA receptor subunit genes on 5q33 in the development of heroin dependence is discussed. PMID:17440936

  13. Allelic imbalance and fine mapping of the 17p13.3 subregion in sporadic breast carcinomas

    Hoff, C; Mollenhauer, J; Waldau, B;

    2001-01-01

    region is suspected to harbor another tumor suppressor gene. In order to get more information concerning the pattern of AIs in 17p13.3, we performed analysis of AI of 49 breast carcinomas at 6 polymorphic loci in 17p13.3. Eighty-six percent of the tumors present AI at least at one marker in 17p13......Chromosome arm 17p is frequently altered in a variety of human cancers, especially in breast cancer, and allelic imbalances (AIs) in the region 17p13.1 do not always coincide with mutations in the TP53 gene. A second interval that frequently shows AIs at 17p is the chromosomal band 17p13.3. This.......3. Among all loci tested, the highest percentage of Al was observed at loci D17S5 (77%) and D17S1528 (72%). According to these results, a minimal region of deletion could be determined between the markers D17S28 and D17S5. Fine mapping of this region revealed that the size of the deleted region is about...

  14. Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease.

    Hodgson, S V; Coonar, A S; P. J. Hanson; Cottrell, S; Scriven, P N; Jones, T; Hawley, P R; Wilkinson, M L

    1993-01-01

    Two cases are reported of patients with deletions of chromosome 5q. Both have familial adenomatous polyposis (FAP) and mild mental retardation. In both, macroscopic polyposis was confined to the proximal colon in adult life (in their thirties) although microscopic adenomatosis was shown in the more distal colon with occasional single polyps. Both subjects had dermoid cysts, and congenital hypertrophy of the retinal pigment epithelium (CHRPE) was seen in case 2. Case 1 has gastroduodenal polyp...

  15. Thermoelastic properties of Zn3P2

    Gerward, Leif; Olsen, J. Staun; Waśkowska, A.

    2011-01-01

    The bulk modulus and thermal expansion of Zn3P2 has been investigated at pressures up to 21GPa and temperatures down to 100K. The experimental zero-pressure bulk modulus is 80.7 ± 1.8GPa, in accordance with the bulk modulus scaling and lattice properties of the related compound Cd3P2. A tetragonal...... to orthorhombic phase transformation occurs above 11GPa with a relative volume change of-7.1%. Values for the thermal expansion coefficient are reported at 293, 200 and 100K....

  16. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

    D.M. Glubb (Dylan); M. Maranian (Melanie); K. Michailidou (Kyriaki); K.A. Pooley (Karen); K.B. Meyer (Kerstin); S. Kar (Siddhartha); A.F.C. Carlebur; M. O'Reilly (Marian); J.A. Betts (Joshua); K.M. Hillman (Kristine); S. Kaufmann (Susanne); J. Beesley (Jonathan); S. Canisius (Sander); J.L. Hopper (John); M.C. Southey (Melissa); H. Tsimiklis (Helen); C. Apicella (Carmel); M.K. Schmidt (Marjanka); A. Broeks (Annegien); F.B.L. Hogervorst (Frans); C.E. van der Schoot (Ellen); K.R. Muir (K.); A. Lophatananon (Artitaya); S. Stewart-Brown (Sarah); P. Siriwanarangsan (Pornthep); P.A. Fasching (Peter); M. Ruebner (Matthias); A.B. Ekici (Arif); M.W. Beckmann (Matthias W.); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia); N. Johnson (Nichola); P.D.P. Pharoah (Paul D.P.); M.K. Bolla (Manjeet); Q. Wang (Qing); J. Dennis (Joe); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); B. Burwinkel (Barbara); F. Marme (Federick); R. Yang (Rongxi); H. Surowy (Harald); P. Guénel (Pascal); T. Truong (Thérèse); F. Menegaux (Florence); M. Sanchez (Marie); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); S.F. Nielsen (Sune); H. Flyger (Henrik); A. González-Neira (Anna); J. Benítez (Javier); M.P. Zamora (Pilar); J.I. Arias Pérez (José Ignacio); H. Anton-Culver (Hoda); S.L. Neuhausen (Susan); H. Brenner (Hermann); A.K. Dieffenbach (Aida Karina); V. Arndt (Volker); C. Stegmaier (Christa); A. Meindl (Alfons); R.K. Schmutzler (Rita); H. Brauch (Hiltrud); Y.-D. Ko (Yon-Dschun); T. Brüning (Thomas); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); K. Matsuo (Keitaro); H. Ito (Hidemi); H. Iwata (Hisato); H. Tanaka (Hideo); T. Dörk (Thilo); N.V. Bogdanova (Natalia); S. Helbig (Sonja); A. Lindblom (Annika); S. Margolin (Sara); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); A.H. Wu (Anna H.); C.-C. Tseng (Chiu-Chen); D. Van Den Berg (David); D.O. Stram (Daniel O.); D. Lambrechts (Diether); H. Zhao (Hui); C. Weltens (Caroline); E. van Limbergen (Erik); J. Chang-Claude (Jenny); D. Flesch-Janys (Dieter); A. Rudolph (Anja); P. Seibold (Petra); P. Radice (Paolo); P. Peterlongo (Paolo); M. Barile (Monica); F. Capra (Fabio); F.J. Couch (Fergus); J.E. Olson (Janet); B. Hallberg (Boubou); C. Vachon (Celine); G.G. Giles (Graham); R.L. Milne (Roger); C.A. McLean (Catriona Ann); C.A. Haiman (Christopher); B.E. Henderson (Brian); F.R. Schumacher (Fredrick); L. Le Marchand (Loic); J. Simard (Jacques); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); S.-H. Teo; C.H. Yip (Cheng Har); M.-H. See (Mee-Hoong); B.K. Cornes (Belinda); C.-Y. Cheng (Ching-Yu); M.K. Ikram (Kamran); V. Kristensen (Vessela); W. Zheng (Wei); S.L. Halverson (Sandra L.); M. Shrubsole (Martha); J. Long (Jirong); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); S. Kauppila (Saila); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); S. Tchatchou (Sandrine); P. Devilee (Peter); R.A.E.M. Tollenaar (Rob); C.M. Seynaeve (Caroline); C.J. van Asperen (Christi); M. García-Closas (Montserrat); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); K. Czene (Kamila); D. Klevebring (Daniel); H. Darabi (Hatef); M. Eriksson (Mikael); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); J.W.M. Martens (John W. M.); J.M. Collee (Margriet); P. Hall (Per); J. Li (Jingmei); K. Humphreys (Keith); X.-O. Shu (Xiao-Ou); W. Lu (Wei); Y.-T. Gao (Yu-Tang); H. Cai (Hui); A. Cox (Angela); S.S. Cross (Simon); M.W.R. Reed (Malcolm); W.J. Blot (William); L.B. Signorello (Lisa B.); Q. Cai (Qiuyin); M. Shah (Mitul); M. Ghoussaini (Maya); D. Kang (Daehee); J.-Y. Choi (J.); S.K. Park (Sue); D-Y. Noh (Dong-Young); M. Hartman (Mikael); X. Miao; W.-Y. Lim (Wei-Yen); A. Tang (Anthony); U. Hamann (Ute); D. Torres (Diana); A. Jakubowska (Anna); J. Lubinski (Jan); K. Jaworska (Katarzyna); K. Durda (Katarzyna); S. Sangrajrang (Suleeporn); V. Gaborieau (Valerie); P. Brennan (Paul); J.D. McKay (James); C. Olswold (Curtis); S. Slager (Susan); A.E. Toland (Amanda); D. Yannoukakos (Drakoulis); C-Y. Shen (Chen-Yang); P.-E. Wu (Pei-Ei); J-C. Yu (Jyh-Cherng); M.-F. Hou (Ming-Feng); A.J. Swerdlow (Anthony ); A. Ashworth (Alan); N. Orr (Nick); M. Jones (Michael); G. Pita (G.); M.R. Alonso (M Rosario); N. Álvarez (Nuria); D. Herrero (Daniel); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); C. Baynes (Caroline); S. Ahmed (Shahana); S. Healey (Sue); M. Brown (Melissa); B.A.J. Ponder (Bruce A.J.); G. Chenevix-Trench (Georgia); D. Thompson (Deborah); S.L. Edwards (Stacey); D.F. Easton (Douglas); A.M. Dunning (Alison); J.D. French (Juliet)

    2015-01-01

    textabstractGenome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer indiv

  17. Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria

    Tsuchiya Naoyuki

    2009-10-01

    Full Text Available Abstract Background It has been previously demonstrated that a single nucleotide polymorphism (SNP in the IL13 promoter region, IL13 -1055T>C (rs1800925, was associated with susceptibility to severe malaria in Thais. In the present study, fine association mapping for a cytokine gene cluster including IL4, IL5, and IL13 on chromosome 5q31 was conducted using the same malaria subjects to refine the region containing a primary variant or a haplotype susceptible to severe malaria. Methods A total of 82 SNPs spanning 522 kb of the 5q31 region were analysed in 368 patients with Plasmodium falciparum malaria (203 mild malaria and 165 severe malaria patients. Results Only rs1881457 located in the promoter region of IL13, which is in linkage disequilibrium with rs1800925 (r2 = 0.73, showed a significant association with severe malaria after adjusting for multiple testing (P = 0.046 by permutation test. This SNP was in a haplotype block spanning 97 kb (from rs2069812 to rs2240032. The detected haplotype block contained the RAD50 gene and the promoter of IL13, but not the other genes. Conclusion A haplotype block in which a primary polymorphism associated with severe malaria is likely to be encoded was identified in Thai malaria patients.

  18. TP53 and MDM2 single nucleotide polymorphisms influence survival in non-del(5q) myelodysplastic syndromes.

    McGraw, Kathy L; Cluzeau, Thomas; Sallman, David A; Basiorka, Ashley A; Irvine, Brittany A; Zhang, Ling; Epling-Burnette, P K; Rollison, Dana E; Mallo, Mar; Sokol, Lubomir; Solé, Francesc; Maciejewski, Jaroslaw; List, Alan F

    2015-10-27

    P53 is a key regulator of many cellular processes and is negatively regulated by the human homolog of murine double minute-2 (MDM2) E3 ubiquitin ligase. Single nucleotide polymorphisms (SNPs) of either gene alone, and in combination, are linked to cancer susceptibility, disease progression, and therapy response. We analyzed the interaction of TP53 R72P and MDM2 SNP309 SNPs in relationship to outcome in patients with myelodysplastic syndromes (MDS). Sanger sequencing was performed on DNA isolated from 208 MDS cases. Utilizing a novel functional SNP scoring system ranging from +2 to -2 based on predicted p53 activity, we found statistically significant differences in overall survival (OS) (p = 0.02) and progression-free survival (PFS) (p = 0.02) in non-del(5q) MDS patients with low functional scores. In univariate analysis, only IPSS and the functional SNP score predicted OS and PFS in non-del(5q) patients. In multivariate analysis, the functional SNP score was independent of IPSS for OS and PFS. These data underscore the importance of TP53 R72P and MDM2 SNP309 SNPs in MDS, and provide a novel scoring system independent of IPSS that is predictive for disease outcome. PMID:26416416

  19. Miller-Dieker syndrome associated with duplication of 17p13.3 confirmed by fluorescence in situ hybridization (FISH)

    Li, S.; Tuck-Muller, C.M.; Martinez, J.E. [Univ. of South Alabama, Mobile, AL (United States)] [and others

    1994-09-01

    Miller-Dieker syndrome is characterized by profound mental retardation, craniofacial abnormalities, and lissencephaly (smooth brain). Microscopic or submicroscopic deletions of the 17p13.3 region have been reported in Miller-Dieker patients. We report a patient with this syndrome in whom a duplication of the 17p13.3 region was detected by FISH. The 9-year-old female proband was referred because of features of Miller-Dieker syndrome: microcephaly, profound psychomotor retardation, seizures, characteristic facies, and lissencephaly shown by MRI studies. High-resolution G-banding failed to demonstrate an abnormality in chromosome 17. However, FISH analysis with the DNA probe (Oncor No. 5101) specific for Miller-Dieker region of chromosome 17p13.3 demonstrated duplication of this segment instead of the classic deletion. We know of no other report of Miller-Dieker syndrome associated with duplication of 17p13.3. The family study revealed normal chromosomes in both parents by cytogenetic and FISH analysis. Our investigation suggests that duplications, as well as deletions, of the 17p13.3 region are associated with the Miller-Dieker syndrome. The presence of deletions or duplications of the same chromosomal region in patients with features of Miller-Dieker syndrome suggests that its pathogenesis may be due to gene dosage effects.

  20. Monitoring Observations of the Jupiter-Family Comet 17P/Holmes during 2014 Perihelion Passage

    Kwon, Yuna Grace; Hanayama, Hidekazu; Kuroda, Daisuke; Honda, Satoshi; Takahashi, Jun; Kim, Yoonyoung; Lee, Myung Gyoon; Choi, Young-Jun; Kim, Myung-Jin; Vaubaillon, Jeremie J; Miyaji, Takeshi; Yanagisawa, Kenshi; Yoshida, Michitoshi; Ohta, Kouji; Kawai, Nobuyuki; Fukushima, Hideo; Watanabe, Jun-ichi

    2015-01-01

    We performed a monitoring observation of a Jupiter-Family comet, 17P/Holmes, during its 2014 perihelion passage to investigate its secular change in activity. The comet has drawn the attention of astronomers since its historic outburst in 2007, and this occasion was its first perihelion passage since then. We analyzed the obtained data using aperture photometry package and derived the Afrho parameter, a proxy for the dust production rate. We found that Afrho showed asymmetric properties with respect to the perihelion passage: it increased moderately from 100 cm at the heliocentric distance r_h=2.6-3.1 AU to a maximal value of 185 cm at r_h = 2.2 AU (near the perihelion) during the inbound orbit, while dropping rapidly to 35 cm at r_h = 3.2 AU during the outbound orbit. We applied a model for characterizing dust production rates as a function of r_h and found that the fractional active area of the cometary nucleus had dropped from 20%-40% in 2008-2011 (around the aphelion) to 0.1%-0.3% in 2014-2015 (around the...

  1. Outburst of Comet 17P/Holmes Observed With The Solar Mass Ejection Imager

    Li, Jing

    2010-01-01

    We present time-resolved photometric observations of Jupiter family comet 17P/Holmes during its dramatic outburst of 2007. The observations, from the orbiting Solar Mass Ejection Imager (SMEI), provide the most complete measure of the whole-coma brightness, free from the effects of instrumental saturation and with a time-resolution well-matched to the rapid brightening of the comet. The lightcurve is divided into two distinct parts. A rapid rise between the first SMEI observation on UT 2007 October 24 06h 37m (mid-integration) and UT 2007 October 25, is followed by a slow decline until the last SMEI observation on UT 2008 April 6 22h 16m (mid-integration). We find that the rate of change of the brightness is reasonably well-described by a Gaussian function having a central time of UT 2007 October 24.54+/-0.01 and a full-width-at-half-maximum 0.44+/-0.02 days. The maximum rate of brightening occurs some 1.2 days after the onset of activity. At the peak the scattering cross-section grows at 1070+/-40 km^2/s whi...

  2. Peculiar Near-Nucleus Outgassing of Comet 17P/Holmes During Its 2007 Outburst

    Qi, Chunhua; Jewitt, David; Gurwell, Mark A; Wilner, David J

    2014-01-01

    We present high angular resolution Submillimeter Array observations ofthe outbursting Jupiter family comet 17P/Holmes on 2007 October 26-29, achieving a spatial resolution of 2.5", or ~3000 km at the comet distance. The observations resulted in detections of the rotational lines CO 3-2, HCN 4-3, H$^{13}$CN 4-3, CS 7-6, H$_2$CO 3$_{1,2}$-2$_{1,1}$, H$_2$S 2$_{2,0}$-2$_{1,1}$, and multiple CH$_3$OH lines, along with the associated dust continuum at 221 and 349 GHz. The continuum has a spectral index of 2.7$\\pm$0.3, slightly steeper than blackbody emission from large dust particles. From the imaging data, we identify two components in the molecular emission. One component is characterized by a relatively broad line width (~1 km s$^{-1}$ FWHM) exhibiting a symmetric outgassing pattern with respect to the nucleus position. The second component has a narrower line width (<0.5 km s$^{-1}$ FWHM) with the line center red-shifted by 0.1-0.2 km s$^{-1}$ (cometocentric frame), and shows a velocity shift across the nuc...

  3. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.

    Krebsová, A; Küster, W; Lestringant, G G; Schulze, B; Hinz, B; Frossard, P M; Reis, A; Hennies, H C

    2001-07-01

    Autosomal recessive congenital ichthyosis (ARCI) comprises a group of severe disorders of keratinization, characterized by variable erythema and skin scaling. It is known for its high degree of genetic and clinical heterogeneity. Mutations in the gene for keratinocyte transglutaminase (TGM1) on chromosome 14q11 were shown in patients with ARCI, and a second locus was described, on chromosome 2q, in families from northern Africa. Three other loci for ARCI, on chromosomes 3p and 19p, were identified recently. We have embarked on a whole-genome scan for further loci for ARCI in four families from Germany, Turkey, and the United Arab Emirates. A novel ARCI locus was identified on chromosome 17p, between the markers at D17S938 and D17S1856, with a maximum LOD score of 3.38, at maximum recombination fraction 0.00, at D17S945, under heterogeneity. This locus is linked to the disease in the Turkish family and in the German family. Extensive genealogical studies revealed that the parents of the German patients with ARCI were eighth cousins. By homozygosity mapping, the localization of the gene could then be refined to the 8.4-cM interval between D17S938 and D17S1879. It could be shown, however, that ARCI in the two Arab families is linked neither to the new locus on chromosome 17p nor to one of the five loci known previously. Our findings give evidence of further genetic heterogeneity that is not linked to distinctive phenotypes. PMID:11398099

  4. Lenalidomide as a disease-modifying agent in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes

    Giagounidis, Aristoteles; Mufti, Ghulam J.; Fenaux, Pierre; Germing, Ulrich; List, Alan; MacBeth, Kyle J.

    2013-01-01

    Deletion of the long arm of chromosome 5, del(5q), is the most prevalent cytogenetic abnormality in patients with myelodysplastic syndromes (MDS). In isolation, it is traditionally associated with favorable prognosis compared with other subtypes of MDS. However, owing to the inherent heterogeneity of the disease, prognosis for patients with del(5q) MDS is highly variable depending on the presence of factors such as additional chromosomal abnormalities, >5 % blasts in the bone marrow (BM), or ...

  5. $^3P_2$ Superfluids Are Topological

    Mizushima, Takeshi

    2016-01-01

    We clarify the topology of the $^3P_2$ superfluidity which is expected to be realized in the cores of neutron stars and cubic odd-parity superconductors. The phase diagram includes the unitary uniaxial/biaxial nematic phases and nonunitary ferromagnetic and cyclic phases. We here show that the low-energy structures of all the phases are governed by different types of topologically protected gapless fermionic excitations: Surface Majorana fermions in nematic phases, single itinerant Majorana fermion in the ferromagnetic phase, and a quartet of itinerant Majorana fermions in the cyclic phase. Using the superfluid Fermi liquid theory, we also demonstrate that dihedral-two and -four biaxial nematic phases are thermodynamically favored in the weak coupling limit under a magnetic field. The mass acquisition of surface Majorana fermions in nematic phases is subject to symmetry.

  6. 2007 OUTBURST OF 17P/HOLMES: THE ALBEDO AND THE TEMPERATURE OF THE DUST GRAINS

    Based on optical and infrared observations, we study the albedo and the temperature of the dust grains associated with the spectacular 2007 outburst of Jupiter-family comet 17P/Holmes. We found that the albedo at the solar phase angle ∼160 was 0.03-0.12. While the color temperature around 3-4 μm was 360 ± 40 K, the color temperature at 12.4 μm and 24.5 μm was ∼200 K, which is consistent with that of a blackbody. We studied the equilibrium temperature of the dust grains at 2.44 AU and found that the big discrepancy in the temperature was caused by the heterogeneity in particle size, that is, hotter components consist of submicron absorbing grains whereas colder components consist of large (∼>1 μm) grains. The contemporaneous optical and mid-infrared observations suggest that the albedo and the temperature could decrease within ∼ 3 days after the outburst and stabilized at typical values of the other comets. We estimated the total mass injected into the coma by the outburst on the basis of the derived albedo and the optical magnitude for the entire dust cloud, and found that at least 4 x 1010 kg (equivalent to a few meter surface layer) was removed by the initial outburst event. The derived mass suggests that the outburst is explainable by neither the exogenetic asteroidal impact nor water ice sublimation driven by solar irradiation, but by an endogenic energy source. We conclude that the outburst was triggered by the energy sources several meters or more below the nuclear surface.

  7. Detection of Remnant Dust Cloud Associated with the 2007 Outburst of 17P/Holmes

    Ishiguro, Masateru; Sarugaku, Yuki; Kuroda, Daisuke; Hanayama, Hidekazu; Kim, Yoonyoung; Kwon, Yuna G.; Maehara, Hiroyuki; Takahashi, Jun; Terai, Tsuyoshi; Usui, Fumihiko; Vaubaillon, Jeremie J.; Morokuma, Tomoki; Kobayashi, Naoto; Watanabe, Jun-ichi

    2016-01-01

    This article reports a new optical observation of 17P/Holmes one orbital period after the historical outburst event in 2007. We detected not only a common dust tail near the nucleus but also a long narrow structure that extended along the position angle 274.°6 ± 0.°1 beyond the field of view (FOV) of the Kiso Wide Field Camera, i.e., >0.°2 eastward and >2.°0 westward from the nuclear position. The width of the structure decreased westward with increasing distance from the nucleus. We obtained the total cross section of the long extended structure in the FOV, CFOV = (2.3 ± 0.5) × 1010 m2. From the position angle, morphology, and mass, we concluded that the long narrow structure consists of materials ejected during the 2007 outburst. On the basis of the dynamical behavior of dust grains in the solar radiation field, we estimated that the long narrow structure would be composed of 1 mm-1 cm grains having an ejection velocity of >50 m s-1. The velocity was more than one order of magnitude faster than that of millimeter-centimeter grains from typical comets around a heliocentric distance rh of 2.5 AU. We considered that sudden sublimation of a large amount of water-ice (≈1030 mol s-1) would be responsible for the high ejection velocity. We finally estimated a total mass of MTOT = (4-8) × 1011 kg and a total kinetic energy of ETOT = (1-6) × 1015 J for the 2007 outburst ejecta, which are consistent with those of previous studies that were conducted soon after the outburst.

  8. Detailed deletion mapping in sporadic breast cancer at chromosomal region 17p13 distal to the TP53 gene: association with clinicopathological parameters.

    Seitz, S; Poppe, K; Fischer, J; Nothnagel, A; Estévez-Schwarz, L; Haensch, W; Schlag, P M; Scherneck, S

    2001-07-01

    Chromosome 17p is among the most frequently deleted regions in a variety of human malignancies including breast cancer. This study has further refined the localization of a putative tumour suppressor gene (TSG) at 17p13 distal to the TP53 gene in breast carcinomas. It was found that 73% (37 of 51) of the breast tumours exhibited loss of heterozygosity (LOH) at one or more loci at 17p13. The allelic loss patterns of these tumours suggest the presence of at least seven commonly deleted regions on 17p13. The three most frequently deleted regions were mapped at chromosomal location 17p13.3-17p13.2 between the markers D17S831 and D17S1845 (56% LOH), at 17p13.1 between D17S1810 and D17S1832 (53% LOH), and at 17p13.1 between D17S938 and TP53 (55% LOH). A significant correlation was found between loss at 17p13 and tumour grade, size, proliferative activity, and oestrogen receptor (ER) status. Losses at 17p13 were seen more frequently in large and poorly differentiated tumours with high proliferative activity. These data support and extend previous reports on the presence of a putative TSG(s) at chromosomal region 17p13 distal to the TP53 gene and show that different subsets of LOH are associated with more aggressive tumour behaviour. PMID:11439364

  9. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

    Roos, L; Jønch, A E; Kjaergaard, S;

    2009-01-01

    cases with this duplication. METHODS: Multiplex ligation-dependent probe amplification (MLPA) or array-CGH was used to diagnose three developmentally delayed children with duplications of 17p13. The duplications were characterised further using Agilent array technology, revealing duplication sizes from...

  10. PECULIAR NEAR-NUCLEUS OUTGASSING OF COMET 17P/HOLMES DURING ITS 2007 OUTBURST

    Qi, Chunhua; Gurwell, Mark A.; Wilner, David J. [Harvard-Smithsonian Center for Astrophysics, 60 Garden Street, MS 42, Cambridge, MA 02138 (United States); Hogerheijde, Michiel R. [Leiden Observatory, Leiden University, P.O. Box 9513, 2300 RA Leiden (Netherlands); Jewitt, David, E-mail: cqi@cfa.harvard.edu [Department of Earth, Planetary and Space Sciences and Department of Physics and Astronomy, University of California at Los Angeles, 595 Charles Young Drive East, Los Angeles, CA 90095 (United States)

    2015-01-20

    We present high angular resolution Submillimeter Array observations of the outbursting Jupiter family comet 17P/Holmes on 2007 October 26-29, achieving a spatial resolution of 2.''5, or ∼3000 km at the comet distance. The observations resulted in detections of the rotational lines CO 3-2, HCN 4-3, H{sup 13}CN 4-3, CS 7-6, H{sub 2}CO 3{sub 1,} {sub 2}-2{sub 1,} {sub 1}, H{sub 2}S 2{sub 2,} {sub 0}-2{sub 1,} {sub 1}, and multiple CH{sub 3}OH lines, along with the associated dust continuum at 221 and 349 GHz. The continuum has a spectral index of 2.7 ± 0.3, slightly steeper than blackbody emission from large dust particles. From the imaging data, we identify two components in the molecular emission. One component is characterized by a relatively broad line width (∼1 km s{sup –1} FWHM) exhibiting a symmetric outgassing pattern with respect to the nucleus position. The second component has a narrower line width (<0.5 km s{sup –1} FWHM) with the line center redshifted by 0.1-0.2 km s{sup –1} (cometocentric frame), and shows a velocity shift across the nucleus position with the position angle gradually changing from 66° to 30° within the four days of observations. We determine distinctly different CO/HCN ratios for each of the components. For the broad-line component we find CO/HCN < 7, while in the narrow-line component, CO/HCN = 40 ± 5. We hypothesize that the narrow-line component originates from the ice grain halo found in near-nucleus photometry, believed to be created by sublimating recently released ice grains around the nucleus during the outburst. In this interpretation, the high CO/HCN ratio of this component reflects the more pristine volatile composition of nucleus material released in the outburst.

  11. In patients with myelodysplastic syndromes with del(5q), factors other than age and sex contribute to the prognostic advantage, which diminishes over time.

    Lauseker, Michael; Schemenau, Jennifer; Strupp, Corinna; Kündgen, Andrea; Gattermann, Norbert; Hasford, Joerg; Germing, Ulrich

    2015-09-01

    This study aimed to determine the extent to which the prognostic advantage of myelodysplastic syndromes (MDS) with del(5q) is due to the more favourable age and sex distribution of patients in that group when compared to other MDS subtypes. A total of 1912 MDS patients from the Duesseldorf registry with less than 5% blasts in the bone marrow were evaluable and had complete covariates. As endpoints, overall survival and progression to acute myeloid leukaemia (AML) were considered. Cox models were computed for both outcomes. A multivariate Cox model for survival confirmed higher age and male sex as risk factors. In addition, we found a survival advantage of 9·1 years for MDS del(5q) patients compared to refractory cytopenia with unilineage dysplasia, while the survival advantage of MDS del(5q) over refractory cytopenia with multilineage dysplasia was 18·6 years. Considering progression to AML, we did not find any significant differences between the World Health Organization classification subtypes. Our analyses show that the higher survival probabilities of MDS del(5q) patients are not only due to age and sex, although higher age and male sex were also important risk factors. Interestingly, it seems that the survival advantage of MDS del(5q) decreases over time. PMID:25960152

  12. Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

    Estop, A M; Mowery-Rushton, P A; Cieply, K M; Kochmar, S J; Sherer, C R; Clemens, M; Surti, U; McPherson, E.

    1995-01-01

    We report a case of an unbalanced cryptic telomeric translocation 46,XY,der(17),t(9;17)(q34.3;p13.3) in a boy with dysmorphic features and developmental delay. The proband had intrauterine growth retardation, postnatal short stature, and mild microcephaly. Magnetic resonance imaging showed incomplete myelination, but no evidence of lissencephaly. Cytogenetic analysis of the proband's peripheral blood showed an abnormal 17p. Fluorescence in situ hybridisation (FISH) with a Miller-Dieker cosmid...

  13. Irradiation-induced softening of Ni3P and (Ni, Fe, Cr)3P alloys

    Production of amorphous alloys by solid state reactions (SSR) has attracted much interest during the last few years. One of the methods to induce such a reaction is the irradiation of suitable crystalline alloys by fast particles. Examination of this kind of SSR in M3P type of brazing alloys (M: Metal) is attractive because of the following reason: In brazed joints of candidate structural materials like 316L stainless steel for applications in fusion reactors, crystalline intermetallic phases have been detected which are unstable relative to the amorphous state when irradiated at moderate temperatures with fast particles. It is expected that the transition to the amorphous state is accompanied by changes of the mechanical properties, which are of fundamental interest in this context. Until now, only a few studies on the evolution of mechanical properties during amorphization have been performed. Measurements of microhardness of the crystalline and the corresponding amorphous phase do not exist to the authors knowledge. In this communication, the authors present results on changes of microhardness, due to amorphization by fast ions. The measurements have been performed on a model alloy Ni3P and on the brazed joint of stainless steel 316L, containing M3P (M: Ni, Fe, Cr) as one of the phases. Though microhardness is not a fundamental property of materials, it is a manifestation of several related properties, such as yield stress, ductility, work-hardening, elastic modulus and residual stress states. It represents a resistance for indentation and is, therefore, appropriate for comparative purposes

  14. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein.

    Nigro, V; Piluso, G; Belsito, A; Politano, L; Puca, A A; Papparella, S; Rossi, E; Viglietto, G; Esposito, M G; Abbondanza, C; Medici, N; Molinari, A M; Nigro, G; Puca, G A

    1996-08-01

    Mutations in any of the genes encoding the alpha, beta or gamma-sarcoglycan components of dystrophin-associated glycoproteins result in both sporadic and familial cases of either limb-girdle muscular dystrophy or severe childhood autosomal recessive muscular dystrophy. The collective name 'sarcoglycanopathies' has been proposed for these forms. We report the identification of a fourth member of the human sarcoglycan family. We named this novel cDNA delta-sarcoglycan. Its mRNA expression is abundant in striated and smooth muscles, with a main 8 kb transcript, encoding a predicted basic transmembrane glycoprotein of 290 amino acids. Antibodies specifically raised against this protein recognized a single band at 35 kDa on western blots of human and mouse muscle. Immunohistochemical staining revealed a unique sarcolemmal localization. FISH, radiation hybrid and YAC mapping concordantly linked the delta-sarcoglycan gene to 5q33, close to D5S487 and D5S1439. The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex. PMID:8842738

  15. Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

    Vissers, L. E. L. M.; Stankiewicz, P; Yatsenko, S.A.; Crawford, E.; Creswick, H.; Proud, V K; de Vries, B.B.A.; Pfundt, R.; Marcelis, C.L.M.; Zackowski, J.; Bi, W; van Kessel, A. Geurts; Lupski, J R; Veltman, J.A.

    2007-01-01

    Recent molecular cytogenetic data have shown that the constitution of complex chromosome rearrangements (CCRs) may be more complicated than previously thought. The complicated nature of these rearrangements challenges the accurate delineation of the chromosomal breakpoints and mechanisms involved. Here, we report a molecular cytogenetic analysis of two patients with congenital anomalies and unbalanced de novo CCRs involving chromosome 17p using high-resolution array-based comparative genomic ...

  16. A novel unbalanced de novo translocation der(5t(4;5(q26;q21.1 in adult T-cell precursor lymphoblastic leukemia

    Kjeldsen Eigil

    2012-05-01

    Full Text Available Abstract We here describe a novel unbalanced de novo translocation der(5t(4;5(q26;q21.1 in a 39-year-old male diagnosed with acute T-cell lymphoblastic leukemia. Bone marrow (BM was massively infiltrated with 85 % highly proliferative polymorphic T-cell precursors. Immunologically, the malignant cells stained positive for CD7, CD34, intracytoplasmic CD3+, TdT + and negative for CD3 and CD5. G-banded chromosome analysis of BM cells showed the normal karyotype 46,XY[25] whereas BAC-based aCGH analysis revealed partial gain of 4q and partial loss of 5q. Multicolor karyotyping confirmed the presence of an unbalanced der(5t(4;5 as the sole structural abnormality. Subsequent high-resolution oligonucleotide-based aCGH analysis showed that the der(5t(4;5(q26;q21.1 resulted in partial trisomy of 4q26qter (117,719,015-190,613,014 and partial monosomy of 5q21.1qter (100,425,442-180,857,866 and that there was no indication of any gene disruptions resulting from the breakages. Interphase FISH analysis using BAC-based specific probes for 4q26 and 5q21.1 confirmed the breakpoints and revealed approximately 80 % abnormal cells accordingly. At 4q26 the MIR1973 gene is located centromeric to the breakpoint in the copy number neutral region and the TRAM1L1 gene is located within the gained region. At 5q21.1 the genes ST8SIA4 and MIR548p are located centromeric to the breakpoint and no known genes up to approximately 1 Mb telomeric to the breakpoint in the copy number loss region. Interestingly, only the gene ST8SIA4 at 5q21.1 have been implicated in T-cell regulation as it encodes one of the key enzymes for polysialysation of surface proteins on dendritic cells which are important regulators for T-cell proliferation. The der(5t(4;5 is thought to play a crucial role in the pathogenesis of acute T-ALL due to either gain of 4q, the loss of 5q, or deregulation of genes in proximity to the breakpoints.

  17. Spectra and oscillator strengths of 3p63d9-3p53d10 and 3p63d9-3p63d84p transitions for cobalt-like Sn23+ ion

    Chen Ming-Lun; Yu Xiao-Guang

    2009-01-01

    This paper calculates the spectra and oscillator strengths for highly ionized cobalt-like Sn23+ ions 3p63d9-3p53d10,3p63d9 - 3p63d84p transitions by using a multi-configuration self-consistent field method program together with the proposed fitting formula. The calculations have a good agreement with observations.

  18. Differential cross section of metastable Ne(3P0 and 3P2) scattered from ground state neon

    The differential elastic cross section for metastable Ne(3P0 and 3P2) from ground state Ne at collision energies between 70 and 150 meV have been measured. With a CW-dye laser it was possible to separate the cross sections for Ne(3P0) + Ne and Ne(3P2) + Ne and for the energy exchange process 20Ne* + 22Ne → 20Ne + 22Ne*. (Auth.)

  19. 31 CFR 30.5 - Q-5: How does a TARP recipient comply with the requirements under § 30.4 (Q-4) of this part that...

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Q-5: How does a TARP recipient comply... recipient? 30.5 Section 30.5 Money and Finance: Treasury Office of the Secretary of the Treasury TARP STANDARDS FOR COMPENSATION AND CORPORATE GOVERNANCE § 30.5 Q-5: How does a TARP recipient comply with...

  20. Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions

    Mutsaers, H.A.M.; Levtchenko, E.N.; Martinerie, L.; Pertijs, J.C.L.M.; Allegaert, K.; Devriendt, K.; Masereeuw, R.; Monnens, L.A.; Lombes, M.

    2014-01-01

    CONTEXT: Sotos syndrome is a rare genetic disorder with a distinct phenotypic spectrum including overgrowth and learning difficulties. Here we describe a new case of Sotos syndrome with a 5q35 microdeletion, affecting the fibroblast growth factor receptor 4 (FGFR4) gene, presenting with infantile hy

  1. Normal female carrier and affected male half-sibs with t(X;5)(q13;p15). Location of a gene determining male genital development.

    Callen, D F; Sutherland, G R

    1986-07-01

    A unique family in which half-brothers have a maternally derived t(X;5)(q13;p15) and similar genital malformations is described. This family provides evidence for a gene required for male genital development located at Xq13. PMID:3757297

  2. Allelic methylation levels of the noncoding VTRNA2-1 located on chromosome 5q31.1 predict outcome in AML

    Treppendahl, Marianne Bach; Qiu, Xiangning; Søgaard, Alexandra;

    2012-01-01

    Deletions of chromosome 5q are associated with poor outcomes in acute myeloid leukemia (AML) suggesting the presence of tumor suppressor(s) at the locus. However, definitive identification of putative tumor suppressor genes remains controversial. Here we show that a 106-nucleotide noncoding RNA...

  3. Differential cross section for Ne(3P0) and Ne(3P2) scattered from ground state neon

    The differential elastic cross sections for electronically excited Ne(3P0) and Ne(3P2) from ground state neon atoms at thermal collision energies have been measured separately. Potentials for Ne(3P0)+Ne could be determined and the height of the intermediate potential maxima for Ne(3P2)+Ne could be estimated to 25 meV. By preparing Ne(3P2) in special Msub(J) states scattering in single Ω molecular states could be observed. (Auth.)

  4. Differential cross section for Ne(3P0) and Ne(3P2) scattered from ground state neon

    The differential elastic cross sections for electronically exited Ne(3P0) and Ne(3P2) from ground state neon atoms at thermal collision energies have been measured separately. Potentials for Ne(3P0)+Ne could be determined and the height of the intermediate potential maxima for Ne(3P2)+Ne could be estimated to 25 meV. By preparing Ne(3P2) in special Msub(J) states scattering in single Ω molecular states could be observed. (Author)

  5. Interferometric mapping of the 3.3-mm continuum emission of comet 17P/Holmes after its 2007 outburst

    Boissier, J.; Bockelée-Morvan, D.; Biver, N; Crovisier, J; Lellouch, E.; Moreno, R.; Zakharov, V.

    2012-01-01

    Comet 17P/Holmes underwent a dramatic outburst in October 2007, caused by the sudden fragmentation of its nucleus and the production of a large quantity of grains scattering sunlight. We report on 90 GHz continuum observations carried out with the IRAM Plateau de Bure interferometer on 27.1 and 28.2 October 2007 UT, i.e., 4-5 days after the outburst. These observations probed the thermal radiation of large dust particles, and therefore provide the best constraints on the mass in the ejecta de...

  6. Structural analysis of a hepatitis B virus genome integrated into chromosome 17p of a human hepatocellular carcinoma

    Hepatitis B virus (HBV) is clearly a factor in the development of hepatocellular carcinoma, but its mechanism of action remains obscure. One possibility is that the HBV integration event alters the expression of a nearby growth-regulatory cellular gene. A 9-kilobase (kb) DNA fragment containing an HBV insert plus flanking cellular sequences was cloned from a hepatoma specimen from Shanghai, People's Republic of China. Restriction mapping of the insert revealed a large inverted repeat structure consisting of both viral sequences (encompassing all of the core and pre-S regions and portions of the X and S genes) and at least 3 kb of unique cellular sequences. The virus-cell junction mapped 11 nucleotides from the DRI region, in a position within the HBV X gene and included in the cohesive overlap region. A probe generated from 1.0 kb of the flanking cellular DNA mapped the viral insert to chromosome 17 in the region designated 17p11.2-17p12, which is near the human proto-oncogene p53. Sequence data from a portion of the flanking cellular DNA revealed a stretch of approximately 70 base pairs that showed highly significant homology with a conserved region of a number of functional mammalian DNA, including the human autonomously replicating sequence 1 (ASRI)

  7. A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13

    Balciuniene, J.; Holmgren, G.; Forsman, K. [University Hospital, Umea (Sweden)] [and others

    1995-11-20

    Inherited retinal dystrophy is a common cause of visual impairment. Cone dystrophy affects the cone function and is manifested as progressive loss of the central vision, defective color vision, and photophobia. Linkage was demonstrated between progressive cone dystrophy (CORD5) and genetic markers on chromosome 17p12-p13 in a five-generation family. Multipoint analysis gave a maximum lod score of 7.72 at the marker D17S938. Recombinant haplotypes in the family suggest that the cone dystrophy locus is located in a 25-cM interval between the markers D17S926/D17S849 and D17S804/D17S945. Furthermore, one recombination was detected between the disease locus and a microsatellite marker in the candidate gene RCV1, encoding the retinal protein recoverin. Two additional candidate genes encoding retinal guanylate cyclase (GUC2D) and pigment epithelium-derived factor (PEDF) are located at 17p13.1. Moreover, loci for retinitis pigmentosa and Leber congenital amaurosis have been mapped to the same region. Identification of the cone dystrophy locus may be of importance not only for identifying functional genes in the cone system, but also for identifying genes for other retinal disorders. 34 refs., 3 figs., 2 tabs.

  8. Gene Expression Meta-Analysis identifies Cytokine Pathways and 5q Aberrations involved in Metastasis of ERBB2 Amplified and Basal Breast Cancer

    Thomassen, Mads; Tan, Qihua; Burton, Mark;

    2013-01-01

    show that high expression of 5q14 genes and low levels of TNFR2 pathway genes were associated with poor survival in basal-like cancers. Furthermore, low expression of 5q33 genes and interleukin-12 pathway genes were associated with poor outcome exclusively in ERBB2-like tumors. Conclusion: The......Background: Breast tumors have been described by molecular subtypes characterized by pervasively different gene expression profiles. The subtypes are associated with different clinical parameters and origin of precursor cells. However, the biological pathways and chromosomal aberrations that differ...... subgroups impact metastasis. Results: We have scrutinized publicly available gene expression datasets and identified molecular subtypes in 1,394 breast tumors with outcome data. By analysis of chromosomal regions and pathways using “Gene set enrichment analysis” followed by a meta-analysis, we identified...

  9. Cooling of Neutron Stars and 3P_2 neutron gap

    Grigorian, H.; Voskresensky, D.N.(National Research Nuclear University (MEPhI), Moscow, 115409, Russia)

    2005-01-01

    We study the dependence of the cooling of isolated neutron stars on the magnitude of the $3P_2$ neutron gap. It is demonstrated that our ``Nuclear medium cooling scenario'' is in favor of a suppressed value of the $3P_2$ neutron gap.

  10. 3p - 3d intershell interaction in Cr

    The photoemission of Cr films deposited under UHV conditions has been investigated in the photon energy range from 30 eV to 230 eV. The 3p - 3d intershell interaction gives rise to a strong maximum in the 3d partial yield above the 3p threshold. (orig.) 891 KBE/orig. 892 RDG

  11. A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk

    Clark Susan

    2009-06-01

    Full Text Available Abstract Background Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH. Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21 is mutated in most colorectal tumours and its usual mode of LOH is mitotic recombination. Methods We mapped mitotic recombination boundaries ("breakpoints" between the centromere (~50 Mb and APC (~112 Mb in early colorectal tumours. Results Breakpoints were non-random, with the highest frequency between 65 Mb and 75 Mb, close to a low copy number repeat region (68–71 Mb. There were, surprisingly, few breakpoints close to APC, contrary to expectations were there constraints on tumorigenesis caused by uncovering recessive lethal alleles or if mitotic recombination were mechanistically favoured by a longer residual chromosome arm. The locations of mitotic and meiotic recombination breakpoints were correlated, suggesting that the two types of recombination are influenced by similar processes, whether mutational or selective in origin. Breakpoints were also associated with higher local G+C content. The recombination and gain/deletion breakpoint maps on 5q were not, however, associated, perhaps owing to selective constraints on APC dosage in early colorectal tumours. Since polymorphisms within the region of frequent mitotic recombination on 5q might influence the frequency of LOH, we tested the 68–71 Mb low copy number repeat and nearby tagSNPs, but no associations with colorectal cancer risk were found. Conclusion LOH on 5q is non-random, but local factors do not greatly influence the rate of LOH at APC or explain inter differential susceptibility to colorectal tumours.

  12. Assignment of human sprouty 4 gene to chromosome segment 5q32∼33 and analysis of its pattern of expression

    Hua Liu; Jin-Zhong Chen; Shao-Hua Gu; Jian-Liang Dai; En-Pang Zhao; Lu Huang; Wang-Xiang Xu; Yi Xie; Yu-Min Mao

    2003-04-01

    The human sprouty 4 (SPYR4) gene was localized to chromosome band 5q32∼33 by screening the Stanford radiation hybrid G3 panel using a SPRY4-specific primer pair for PCR. Northern blot analysis revealed two different mRNAs (5 kb and 2 kb) in liver, skeletal muscle, heart, lung, kidney, spleen, placenta and small intestine. Reverse transcriptase-PCR analysis showed that SPYR4 was expressed in all tested tissues to different levels.

  13. The human and mouse receptors of hyaluronan-mediated motility, RHAMM, genes (HMMR) map to human chromosome 5q33.2-qter and mouse chromosome 11

    Spicer, A.P.; McDonald, J.A. [Mayo Clinic Scottsdale, AZ (United States); Roller, M.L.; Camper, S.A. [Univ. of Michigan Medical School, Ann Arbor, MI (United States)] [and others

    1995-11-01

    The gene for the receptor for hyaluronan-mediated motility, RHAAM (designated hyaluronan-mediated motility receptor, HMMR (human) and Hmmr (mouse), for mapping purposes), was localized to human chromosome 5q33.2-qter by somatic cell and radiation hybrid analyses. Investigation of two interspecific back-crosses localized the mouse RHAMM (Hmmr) locus 18 cM from the centromere of mouse chromosome 11 within a region of synteny homology with human chromosome 5q23-q35 genes. The map position of the human RHAMM gene places it in a region comparatively rich in disease-associated genes, including those for low-frequency hearing loss, dominant limb-girdle muscular dystrophy, diastrophic dysplasia, Treacher Collins syndrome, and myeloid disorders associated with the 5q-syndrome. The RHAMM gene location and its ability to transform cells when overexpressed implicate RHAMM as a possible candidate gene in the pathogenesis of the recently described t(5;14)(q33-q34;q11) acute lymphoblastic leukemias. 18 refs., 1 fig.

  14. A novel mechanism for outbursts of Comet 17P/Holmes and other short-period comets

    Miles, Richard

    2007-01-01

    A mechanism is proposed to explain the outburst of comet 17P/Holmes based on; (a) oxidation of water within the porous surface of the comet nucleus to form hydrogen peroxide (H2O2) through exposure to UV radiation, to energetic solar-wind particles and to cosmic radiation, (b) concentration of the H2O2 component through solid-, liquid- and gas-phase processes involving sublimation, evaporation, fractional crystallization, diffusion, supercooling, capillary wetting and migration in voids within the nucleus, and (c) rapid exothermic decomposition of aqueous H2O2 liberating oxygen gas via a surface catalytic reaction through interaction with finely-dispersed transition metals, metal compounds and minerals, in particular those containing Fe, localised within a differentiated multi-component comet nucleus. An accelerated release of gaseous oxygen, concomitant self-heating and volatilisation of hydrocarbons within the nucleus results in its explosive disruption. This mechanism may also explain the observation of a ...

  15. Intercombination decay of 3s3p3P10 in Mg I-like Ni and Cu

    The intercombination transition 3s21S0-3s3p 3p10 in Ni16+ and Cu17+ has been studied by beam-foil spectroscopic methods. Decay curve analysis yields lifetime values of (12.0+-1.0) ns and (8.8+-0.6) ns for Ni and Cu in agreement with various predictions. (orig./WL)

  16. Deletion 17p11.2 (Smith-Magenis syndrome) is relatively common among patients having mental retardation and myopia

    Finucane, B.; Jaeger, E.R. [Elwyn, Inc. PA (United States); Freitag, S.K. [Jefferson Medical College, Philadelphia, PA (United States)

    1994-09-01

    We recently reported the finding of moderate to severe myopia in 6 of 10 patients with Smith-Magenis syndrome (SMS). To investigate the prevalence of SMS among mentally retarded people having myopia, we surveyed a cohort of patients residing at a facility for individuals with mental retardation (MR). Of 547 institutionalized individuals with MR, 72 (13.2%) had moderate to high myopia defined as a visual acuity of minus 3 diopters or more. It should be noted that our institution does not specifically select for people with visual impairment; rather, the facility serves people with a primary diagnosis of MR. Sixty-five of 72 (90.3%) myopic individuals identified were available for cytogenetic analysis. Seventeen (26.2%) of these patients had trisomy 21. Down syndrome (DS) is well known to be associated with eye abnormalities, including myopia. Of 48 individuals with moderate to high myopia not having DS, 5 (10.4%) were shown to have deletions of 17p11.2. This is a high prevalence considering the relative rarity of SMS. By contrast, in a randomized sample of 48 patients without significant myopia at the same facility, we found no individuals with deletion 17p11.2. We conclude that the diagnosis of SMS should be considered in any non-Down syndrome individual having MR and myopia, and that ophthalmologists serving people with MR should be made aware of this deletion syndrome. Furthermore, our results suggest that significant numbers of people having SMS could be identified through selective institutional screening of patients having a combination of MR and moderate to severe myopia.

  17. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

    Glubb, Dylan M; Maranian, Mel J; Michailidou, Kyriaki;

    2015-01-01

    Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals an...

  18. Transition probability values of the 1s22s3p 3P0 level in Be-like ions

    Transition probability values from the 1s22s3p 3P0 level for selected beryllium-like ions, from Z = 5 to 92, are calculated using the multi-configuration Dirac–Fock method including QED corrections, and full correlation up to the 4f subshell in both initial and final levels, for 1s22s3s 3S1, 1s22s2p 3P2 level and 1s22p23P1 decay modes of this level. (paper)

  19. Chromosome 17p13.2 transfer reverts transformation phenotypes and Fas-mediated apoptosis in breast epithelial cells.

    Lareef, Mohamed H; Tahin, Quivo; Song, Joon; Russo, Irma H; Mihaila, Dana; Slater, Carolyn M; Balsara, Binaifer; Testa, Joseph R; Broccoli, Dominique; Grobelny, Jennifer V; Mor, Gil; Cuthbert, Andrew; Russo, Jose

    2004-04-01

    Transformation of the human breast epithelial cells (HBEC) MCF-10F with the carcinogen benz(a)pyrene (BP) into BP1-E cells resulted in the loss of the chromosome 17 p13.2 locus (D17S796 marker) and formation of colonies in agar-methocel (colony efficiency (CE)), loss of ductulogenic capacity in collagen matrix, and resistance to anti-Fas monoclonal antibody (Mab)-induced apoptosis. For testing the role of that specific region of chromosome 17 in the expression of transformation phenotypes, we transferred chromosome 17 from mouse fibroblast donors to BP1-E cells. Chromosome 11 was used as negative control. After G418 selection, nine clones each were randomly selected from BP1-E-11neo and BP1-E-17neo hybrids, respectively, and tested for the presence of the donor chromosomes by fluorescent in situ hybridization and polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analyses. Sensitivity to Fas Mab-induced apoptosis and evaluation of transformation phenotype expression were tested in MCF-10F, BP1-E, and nine BP1-E-11neo and BP1-E-17neo clones each. Six BP1-E-17neo clones exhibited a reversion of transformation phenotypes and a dose dependent sensitivity to Fas Mab-induced apoptosis, behaving similarly to MCF-10F cells. All BP1-E-11neo, and three BP1-E-17neo cell clones, like BP1-E cells, retained a high CE, loss of ductulogenic capacity, and were resistant to all Fas Mab doses tested. Genomic analysis revealed that those six BP1-E-17neo clones that were Fas-sensitive and reverted their transformed phenotypes had retained the 17p13.2 (D17S796 marker) region, whereas it was absent in all resistant clones, indicating that the expression of transformation phenotypes and the sensitivity of the cells to Fas-mediated apoptosis were under the control of genes located in this region. PMID:15057875

  20. Chromosome 3p alterations in pancreatic endocrine neoplasia

    Amato, Eliana; Barbi, Stefano; Malpeli, Giorgio; Bersani, Samantha; Pelosi, Giuseppe; Capelli, Paola

    2010-01-01

    Pancreatic endocrine tumors (PET) are rare neoplasms classified as functioning (F-PET) or non-functioning (NF-PET) according to the presence of a clinical syndrome due to hormonal hypersecretion. PETs show variable degrees of clinical aggressiveness and loss of chromosome 3p has been suggested to be associated with an advanced stage of disease. We assessed chromosome 3p copy number in 113 primary PETs and 32 metastases by fluorescence in situ hybridization (FISH) using tissue microarrays. The series included 56 well-differentiated endocrine tumors (WDET), 62 well-differentiated endocrine carcinomas (WDEC), and 6 poorly differentiated endocrine carcinomas (PDEC). Chromosome 3p alterations were found in 23/113 (20%) primary tumors, with losses being predominant over gains (14% vs. 6%). Loss of 3p was found in 5/55 (9%) WDET, 11/52 (21%) WDEC, and never in PDEC. Gains of 3p were detected in 4/55 (7%) WDET, no WDEC, but notably in 3/6 (50%) PDEC (OR 23.6; P = 0.003). Metastases were more frequently monosomic for 3p compared to primary tumors (OR 3.6; P = 0.005). Monosomy was significantly associated with larger tumor size, more advanced tumor stage, and metastasis. No association was found with survival. Chromosome 3p copy number alterations are frequent events in advanced stage PET, with gains prevailing in PDEC while losses are more frequent in WDEC, supporting the view that a specific pattern of alterations are involved in these diverse disease subtypes. PMID:20981439

  1. 人膀胱移行细胞癌染色体17p13区域杂合性缺失精细作图

    郑闪; 张建军; 等

    2002-01-01

    目的:明确染色体17p13区域等位基因杂合性缺失(LOH)在人膀胱移行细胞癌(TCC)中的发生频率和最小缺失区域,为膀胱TCC相关抑癌基因的定位克隆提供线索。方法:应用位于17p13区域的13个微卫星标记,分期的关系,结果:44例患者中,35例(79.5%)的膀胱TCC组织中存在至少1个微卫星标记的LOH,缺失频率最高的微卫星标记是位于17p13.2的D17S513,达41.4%(12/29),其次为位于17p13.3的D17S1308,为40.5%(17/42);最低为位于17p13.1的D17S261,为14.3%(4/28)LOH主要集中于三个区域;位于17p13.3的D17S695-D17S1308,位于17p13.2的D17S1533-D17S831,以及位于17p13.1区域的TP53。所检测微卫星标记中仅TP53的LOH与膀胱TCC病理分级(χ2=5.104,P<0.05),和分期(χ2=5.382,P<0.05)呈正相关,结论:在17p13区域除TP53基因以外,还可能存在两个与膀胱TCC相关的抑癌基因,分别位于17p13.3的D17S695-D17S1308和17p13.3的D17S1533-D17S831,TP53的LOH是膀胱TCC发展的晚期事件,而17p13.3和17p13.2区域的LOH则可能是膀胱TCC发生的早期事件。

  2. [17p13.3 duplication as a cause of psychomotor developmental delay in an infant - a further case of a new syndrome].

    Przybylska-Kruszewska, Amanda; Kutkowska-Kaźmierczak, Anna; Krzywdzińska, Amanda; Smyk, Marta; Nowakowska, Beata; Gryglicka, Halina; Obersztyn, Ewa; Hozyasz, Kamil K

    2016-04-29

    17p13.3 duplication is a rare and heterogeneous genetic syndrome. Microdeletions of this region are responsible for the symptoms of Miller-Dieker syndrome. We present a case of 17p13.3 duplication consisting of about 730kb in a patient with psychomotor developmental delay, concerning eye-hand coordination, posture, locomotion and speech. Among other symptoms, we found excessive physical development in relation to age, hypotonia, dysmorphic facial features (high and prominent forehead, low-set ears, hypertelorism, short nose, small upturned nose, narrow lips and pointed chin) and discrete changes in the CNS - enhanced frontal horns of the lateral ventricles and quite narrow corpus callosum. These symptoms overlap with phenotype of previously described patients with 17p13.3 duplication. The aberration has been identified by array comparative genomic hybridization (aCGH) and confirmed by fluorescence in situ hybridization (FISH). This publication presents a detailed, comparative characteristic of clinical fetures expression in discussed patient with 17p13.3 duplication and patients previously described in medical literature. Further cases with different variants of 17p13.3 duplication may contribute to characterise the specific genotypephenotype correlation. PMID:27137828

  3. Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

    Lee, Cha Gon; Park, Sang-Jin; Yim, Shin-Young; Sohn, Young Bae

    2013-08-01

    Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several studies, the critical PTLS region was deduced to be 1.3Mb in length, and included RAI1 and 17 other genes. We report a 3-year-old Korean boy with the smallest duplication in 17p11.2 and a milder phenotype. He had no family history of neurologic disease or developmental delay and no history of seizure, autistic features, or behavior problems. He showed subtle facial dysmorphic features (dolichocephaly and a mildly asymmetric smile) and flat feet. All laboratory tests were normal and he had no evidence of internal organ anomalies. He was found to have mild intellectual disabilities (full scale IQ 65 on K-WPPSI) and language developmental delay (age of 2.2year-old on PRESS). Array comparative genomic hybridization (CGH) showed about a 0.25Mb microduplication on chromosome 17p11.2 containing four Refseq (NCBI reference sequence) genes, including RAI1 [arr 17p11.2(17,575,978-17,824,623)×3]. When compared with previously reported cases, the milder phenotype of our patient may be associated with the smallest duplication in 17p11.2, 0.25Mb in length. PMID:23078968

  4. Familial reciprocal translocation t(8;17(p23;q21 in a woman with recurrent spontaneous abortion

    Shadi F. Al-Ashi

    2013-08-01

    Full Text Available This work presents the results of cytogenetic analysis of a couple referred to our genetics laboratory with ten first trimester abortions and one IVF failure. The male showed a normal (46, XY karyotype whereas the female was found to carry an apparently balanced reciprocal translocation [46, XX, t(8;17(p23;q21]. Two sisters and two brothers of the eight siblings of the female proved to have the same translocation. Although the female\\'s father is deceased and his sample was not available for investigation. The origin of this translocation must be paternal since the female\\'s mother harbored a normal karyotype. It is concluded that the history of recurrent pregnancy losses in the couple is due to the production of unbalanced gametes in the female as a result of the reciprocal translocation she has and the couple was advised to undergo a PGD for embryo selection prior to their future IVF trials. The authors also recommend that all RSA couples with normal routine work-up results should be offered chromosomal analysis without delay. [Int J Reprod Contracept Obstet Gynecol 2013; 2(4.000: 695-697

  5. The promoter analysis of the human C17orf25 gene, a novel chromosome 17p13.3 gene

    JIAN; YING; GUO; JIAN; XU; DA; QIN; MAO; LI; LI; FU; JIAN; REN; GU; JING; DE; ZHU

    2002-01-01

    The human C17orf25 gene (Accession No. AF177342) is one of thirteen genes cloned from a regiondisplaying a high score of loss of heterozygosity within chromosome 17p13.3 in human hepatocellular car-cinoma in China[1]. To unveil the underlying mechanisms for the transcription regulation of this gene andunderstand its implication to the hepatocellular carcinogenesis, we looked into the relevant aspects by bothbioinformatic and experimental executions. We found: 1, The abundant expression of the C17orf25 genewas evident in all the cell lines and tissue samples tested, showing little hepatoma-selectivity; 2, Its tran-scription starts at a single site, locating at -60 from the translation initiation codon; 3, A 58 bp fragmentcontaining the transcription start, extending from -112 to -55, represents the minimal promoter; 4, Theconsensus sequence within this fragment recognized by SP1 contributes predominantly to the activity of theminimal promoter; 5, The bioinformatic analysis suggests that the C17orf25 gene may encode a protein inthe family of the glyoxalase. Our data has provided some deep insight into both function and regulation ofthe C17orf25 gene in the context of the normal liver and hepatocellular carcinoma.

  6. Large Excess of Heavy Nitrogen in Both Hydrogen Cyanide and Cyanogen from Comet 17P/Holmes

    Bockelée-Morvan, D.; Biver, N.; Jehin, E.; Cochran, A. L.; Wiesemeyer, H.; Manfroid, J.; Hutsemékers, D.; Arpigny, C.; Boissier, J.; Cochran, W.; Colom, P.; Crovisier, J.; Milutinovic, N.; Moreno, R.; Prochaska, J. X.; Ramirez, I.; Schulz, R.; Zucconi, J.-M.

    2008-05-01

    From millimeter and optical observations of the Jupiter-family comet 17P/Holmes performed soon after its huge outburst of 2007 October 24, we derive 14N/15N = 139 ± 26 in HCN and 14N/15N = 165 ± 40 in CN, establishing that HCN has the same nonterrestrial isotopic composition as CN. The same conclusion is obtained for the long-period comet C/1995 O1 (Hale-Bopp) after a reanalysis of previously published measurements. These results are compatible with HCN being the prime parent of CN in cometary atmospheres. The15N excess relative to the Earth's atmospheric value indicates that N-bearing volatiles in the solar nebula underwent important N isotopic fractionation at some stage of solar system formation. HCN molecules never isotopically equilibrated with the main nitrogen reservoir in the solar nebula before being incorporated in Oort Cloud and Kuiper Belt comets. The 12C/13C ratios in HCN and CN are measured to be consistent with the terrestrial value.

  7. Size-tunable, hexagonal plate-like Cu3P and Janus-like Cu-Cu3P nanocrystals.

    De Trizio, Luca; Figuerola, Albert; Manna, Liberato; Genovese, Alessandro; George, Chandramohan; Brescia, Rosaria; Saghi, Zineb; Simonutti, Roberto; Van Huis, Marijn; Falqui, Andrea

    2012-01-24

    We describe two synthesis approaches to colloidal Cu(3)P nanocrystals using trioctylphosphine (TOP) as phosphorus precursor. One approach is based on the homogeneous nucleation of small Cu(3)P nanocrystals with hexagonal plate-like morphology and with sizes that can be tuned from 5 to 50 nm depending on the reaction time. In the other approach, metallic Cu nanocrystals are nucleated first and then they are progressively phosphorized to Cu(3)P. In this case, intermediate Janus-like dimeric nanoparticles can be isolated, which are made of two domains of different materials, Cu and Cu(3)P, sharing a flat epitaxial interface. The Janus-like nanoparticles can be transformed back to single-crystalline copper particles if they are annealed at high temperature under high vacuum conditions, which makes them an interesting source of phosphorus. The features of the Cu-Cu(3)P Janus-like nanoparticles are compared with those of the striped microstructure discovered more than two decades ago in the rapidly quenched Cu-Cu(3)P eutectic of the Cu-P alloy, suggesting that other alloy/eutectic systems that display similar behavior might give origin to nanostructures with flat, epitaxial interface between domains of two diverse materials. Finally, the electrochemical properties of the copper phosphide plates are studied, and they are found to be capable of undergoing lithiation/delithiation through a displacement reaction, while the Janus-like Cu-Cu(3)P particles do not display an electrochemical behavior that would make them suitable for applications in batteries. PMID:22136519

  8. Au Nanowire-Striped Cu3P Platelet Photoelectrocatalysts.

    Dutta, Anirban; Samantara, Aneeya K; Adhikari, Samrat Das; Jena, Bikash Kumar; Pradhan, Narayan

    2016-03-17

    A stripy pattern of continuous epitaxial growth of thin Au nanowires on plasmonic Cu3P platelets is reported. The obtained Au-Cu3P heterostructures retain their wide area interfacial heterojunction, which is typically not observed in metal-semiconductor heterostructures. This is performed by phosphine-mediated in situ reduction of Au ions on specific facets of Cu3P platelets. The intriguing stripy movements of nanowires are regulated by strong surface binding ligands. Because this is a dual plasmon heterostructure with wide visible absorption window, these are further explored as a photoelectrocatalyst for efficient hole transfer and sensing of an important biomolecule, nicotinamide adenine dinucleotide (NADH). The observed anodic photocurrent was 30 times higher in the presence of NADH, and this proves that the heterostructured material is an ideal photosenser and an efficient catalyst for solar energy conversion. PMID:26938025

  9. Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes

    Carvalho, Claudia M B; Vasanth, Shivakumar; Shinawi, Marwan;

    2014-01-01

    The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic features, and a constellation of more variable clinical features, most prominently microcephaly. We identified five subjects...... with copy-number variants (CNVs) on 17p13.1 for whom we performed detailed clinical and molecular studies. Breakpoint mapping and retrospective analysis of published cases refined the smallest region of overlap (SRO) for microcephaly to a genomic interval containing nine genes. Dissection of this phenotype...... of discrete gene pairings induce microcephaly. Taken together, these studies support a model in which concomitant dosage perturbation of multiple genes within the CNV drive the microcephaly and possibly other neurodevelopmental phenotypes associated with rearrangements in the 17p13.1 SRO....

  10. 5q14.3 deletion neurocutaneous syndrome: Contiguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C: A progressive disease.

    Ilari, Rita; Agosta, Guillermo; Bacino, Carlos

    2016-03-01

    We report the case of a young girl who was presented with complex clinical symptoms caused by the deletion of contiguous genes: RASA1 and MEF2C, located on chromosome 5q14.3. Specifically, the diagnosis of her skin disorder and vascular malformations involving central nervous system is consistent with a RASopathy. The child's neurological manifestations are observed in most patients suffering from 5q14.3 by deletion or mutation of the MEF2C gene. A review of the literature allowed us to conclude that the contiguous deletion of genes RASA1 and MEF2C fulfills the criteria for the diagnosis of a Neurocutaneous syndrome as proposed by Carr et al. [2011]. We also assessed the penetrance of RASA1 and clinical manifestations of MEF2C according to the type of deletion. This child described presents the complete symptomatology of both deleted genes. We would also like to highlight the progression of the disorder. PMID:26774077

  11. Identification of a Potential Regulatory Variant for Colorectal Cancer Risk Mapping to Chromosome 5q31.1: A Post-GWAS Study

    Ke, Juntao; Lou, Jiao; Chen, Xueqin; Li, Jiaoyuan; Liu, Cheng; Gong, Yajie; Yang, Yang; Zhu, Ying; Zhang, Yi; Gong, Jing

    2015-01-01

    Large-scale genome-wide association studies (GWAS) have established chromosome 5q31.1 as a susceptibility locus for colorectal cancer (CRC), which was still lack of causal genetic variants. We searched potentially regulatory single nucleotide polymorphisms (SNPs) in the overlap region between linkage disequilibrium (LD) block of 5q31.1 and regulatory elements predicted by histone modifications, then tested their association with CRC via a case-control study. Among three candidate common variants, we found rs17716310 conferred significantly (heterozygous model: OR = 1.273, 95% confidence interval (95%CI) = 1.016–1.595, P = 0.036) and marginally (dominant model: OR = 1.238, 95%CI = 1.000–1.532, P = 0.050) increase risk for CRC in a Chinese population including 695 cases and 709 controls. This variation was suggested to be regulatory altering the activity of enhancer that control PITX1 expression. Using epigenetic information such as chromatin immunoprecipitation-sequencing (ChIP-seq) data might help researchers to interpret the results of GWAS and locate causal variants for diseases in post-GWAS era. PMID:26381143

  12. P3P semantic checker of site behaviours

    Grande, Robson Eduardo; Zorzo, Sérgio Donizetti

    2006-01-01

    The interactive use of the web between users and service providers introduces a privacy problem that involves the undesired disclosing of user personal information, mainly with the presence of personalization that needs this type of information. Also there are many manners to face it, but the Platform for Privacy Preferences (P3P) is one that provides a variable level of privacy for the user’s browsing. However, the P3P only introduces a privacy contract between the site and the user, without...

  13. Dsj meson decay in the C3P0 model

    Full text. Fock-Tani is a field theory formalism appropriated for the simultaneous treatment of composite particles and their constituents. The formalism was originally developed for the treatment of problems in atomic physics and it was extended later on to the treatment of problems on hadron physics. In the Fock-Tani formalism one starts with the Fock representation of the system using field operators of elementary constituents which satisfy canonical (anti) commutation relations. Composite-particle field operators are linear combinations of the elementary-particle operators and do not generally satisfy canonical (anti) commutation relations. 'Ideal' field operators acting on an enlarged Fock space are then introduced in close correspondence with the composite ones. Next, a given unitary transformation, which transforms the single composite states into single ideal states, is introduced. Application of the unitary operator on the microscopic Hamiltonian, or on other hermitian operators expressed in terms of the elementary constituent field operators, gives equivalent operators which contain the ideal field operators. The effective Hamiltonian in the new representation has a clear physical interpretation in terms of the processes it describes. Since all field operators in the new representation satisfy canonical (anti)commutation relations, the standard methods of quantum field theory can then be readily applied. For a long time the pair creation models for strong hadronic decays have been formulated. The 3P0 model is typical decay model which considers only OZI-allowed strong decays. The 3P0 model considers a quark-antiquark par creation in the presence of the initial state meson. The quark-antiquark par is created with the vacuum quantum numbers. This model can also be obtained from the non-relativistic limit of the pair creation Hamiltonian. Applying the Fock-Tani transformation to the pair creation Hamiltonian produces the characteristic expansion in powers of

  14. Doubly excited 3P(e) resonant states in Ps(-)

    Ho, Y. K.; Bhatia, A. K.

    1992-01-01

    Doubly excited 3P(e) resonant states in Ps(-) are calculated using a method of complex-coordinate rotation. Resonance parameters (both resonance positions and widths) for doubly excited states associated with the n = 2, 3, 4, 5, and 6 thresholds of positronium atoms are evaluated using elaborate Hylleraas-type functions. In addition to ten Feshbach-type resonances lying below various Ps thresholds, three shape resonances were identified, one each lying above the n = 2, 4, and 6 Ps thresholds. It is further noted that the energy levels for the present 3P(e) states are nearly degenerate with respect to the previously calculated 1P(0) states. Such a symmetric character suggests that the highly and doubly excited Ps(-), similar to its counterpart in H(-), would exhibit rovibrational behaviors analogous to those of XYX triatomic molecules.

  15. Lenalidomide for the Treatment of Low- or Intermediate-1-Risk Myelodysplastic Syndromes Associated with Deletion 5q Cytogenetic Abnormality: An Evidence Review of the NICE Submission from Celgene.

    Blommestein, Hedwig M; Armstrong, Nigel; Ryder, Steve; Deshpande, Sohan; Worthy, Gill; Noake, Caro; Riemsma, Rob; Kleijnen, Jos; Severens, Johan L; Al, Maiwenn J

    2016-01-01

    The National Institute for Health and Care Excellence (NICE) invited the manufacturer of lenalidomide (Celgene) to submit evidence of the clinical and cost effectiveness of the drug for treating adults with myelodysplastic syndromes (MDS) associated with deletion 5q cytogenetic abnormality, as part of the Institute's single technology appraisal (STA) process. Kleijnen Systematic Reviews Ltd (KSR), in collaboration with Erasmus University Rotterdam, was commissioned to act as the Evidence Review Group (ERG). This paper describes the company's submission, the ERG review, and the NICE's subsequent decisions. The ERG reviewed the evidence for clinical and cost effectiveness of the technology, as submitted by the manufacturer to the NICE. The ERG searched for relevant additional evidence and validated the manufacturer's decision analytic model to examine the robustness of the cost-effectiveness results. Clinical effectiveness was obtained from a three-arm, European, randomized, phase III trial among red blood cell (RBC) transfusion-dependent patients with low-/intermediate-1-risk del5q31 MDS. The primary endpoint was RBC independence for ≥26 weeks, and was reached by a higher proportion of patients in the lenalidomide 10 and 5 mg groups compared with placebo (56.1 and 42.6 vs 5.9 %, respectively; both p submitted a Patient Access Scheme (PAS) that provided lenalidomide free of charge for patients who remained on treatment after 26 cycles. This PAS improved the ICER to £25,300, although the AC considered the proportion of patients who received treatment beyond 26 cycles, and hence the ICER, to be uncertain. Nevertheless, the AC accepted a commitment from the manufacturer to publish, once available, data on the proportion of patients eligible for the PAS, and believed this provided reassurance that lenalidomide was a cost-effective treatment for low- or intermediate-1-risk MDS patients. PMID:26314282

  16. Myelodysplastic disorders carrying both isolated del(5q and JAK2V617F mutation: concise review, with focus on lenalidomide therapy

    Musto P

    2014-06-01

    Full Text Available Pellegrino Musto,1 Vittorio Simeon,2 Roberto Guariglia,3 Gabriella Bianchino,4 Vitina Grieco,4 Filomena Nozza,4 Francesco La Rocca,2 Gioacchino Marziano,1 Anna Vittoria Lalinga,5 Emiliano Fabiani,6 Maria Teresa Voso,6 Patrizia Scaravaglio,7 Cristina Mecucci,8 Giovanni D'Arena31Scientific Direction, 2Laboratory of Preclinical and Translational Research, 3Unit of Hematology and Stem Cell Transplantation, 4Laboratory of Clinical Research and Advanced Diagnostics, 5Pathology Unit, IRCCS, Centro di Riferimento Oncologico della Basilicata, Rionero in Vulture, Italy; 6Department of Hematology, Universita Cattolica del Sacro Cuore, Rome, Italy; 7Laboratory of Internal Medicine and Hematology, S Luigi Gonzaga Hospital, Orbassano, Italy; 8Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, ItalyAbstract: The concomitant presence of del(5q and JAK2V617F mutation is an infrequent event which occurs in rare patients with peculiar cytogenetic, molecular, morphological and clinical features, resembling those of both myelodysplastic syndromes and myeloproliferative neoplasms. Lenalidomide may induce rapid, profound, and long-lasting responses in a subset of these patients. However, the mechanism(s by which the drug acts in these conditions remain not completely elucidated. A new case report and a review of all cases published so far in this setting are provided. Furthermore, the possibility of categorizing – from a clinical, pathological, and biological point of view – for at least some of these patients as a potential distinct entity is discussed.Keywords: myelodysplastic syndromes, myeloproliferative neoplasms, lenalidomide, del(5q, JAK2, World Health Organization

  17. Configuration interaction calculations of positron binding to Be(3P )

    The configuration interaction method is applied to investigate the possibility of positron binding to the metastable beryllium (1s22s2p 3P ) state. The largest calculation obtained an estimated energy that was unstable by 0.00014 Hartree with respect to the Ps + Be+(2s) lowest dissociation channel. It is likely that positron binding to parent states with non-zero angular momentum is inhibited by centrifugal barriers

  18. Spatial and electronic structure of the Ni3P surface

    To understand the catalytic effect in the Ni-Ni3P for the growth of carbon nanostructures, the structural and electronic properties of Ni3P surface are calculated from first-principles calculations. The calculated surface energies for the (0 0 1)-Ni4P4-terminated surface, the (0 0 1)-Ni8-terminated surface, and the (1 1 0)-Ni8-terminated surface show that the (0 0 1)-Ni4P4-terminated surface is energetically more stable within the allowed range of the chemical potential of P. Through the analysis of the partial density of states of Ni and P atoms in surface and bulk states, respectively, it is further found that due to the bond contractions of the surface layer, the core-level shifts of P atoms in the (0 0 1)-Ni4P4-terminated surface make P atoms in the Ni3P particles act as a catalyst. Finally, the obtained results of the work function show that the (0 0 1)-Ni4P4-terminated surface has the largest work function when compared with the other two studied surfaces.

  19. JS3P: junior staff programme pilot project

    Pretrel, H.; Tregoures, N.; Bessiron, V.; Dehoyos, A.; Delvallee, I.; Brisson, N.; Debayle, C.; Dubreuil, M.; Nicaise, G.; Perignon, J.P.; Richard, J. [Institut de Radioprotection et de Surete Nucleaire (IRSN), 13 - Saint-Paul-lez-Durance (France); Reinke, N.; Kaulard, J.; Burgener, M.; Keesmann, S.; Schramm, B.; Seubert, A.; Sternkopf, J.; Thuma, G.; Weber, S. [Gesellschaft fuer Anlagen- und Reaktorsicherheit mbH (GRS), Koln (Germany); Smidts, O.; Maillet, E.; Bucalossi, A.; Van haesendonck, M.; Uyttenhove, W.; Mertens, J. [AVN, Bruxelles (Belgium)

    2006-07-01

    Concept: The objective of the project is to allow junior staff members from the European Technical Safety Organisations (TSOs), IRSN, GRS and AVN, to work together with the final goal of creating a junior staff network, based on technical, cultural and personal interests. These projects are to show junior staff members at a very early stage during their career the need for European collaborations. They are also a tool to explore new subjects of co-operation. It is an initiative that should strengthen the links between the organisations and contribute to establishing the future of nuclear safety in Europe. A JS3P (Junior Staff Programme Pilot Project) is a project done jointly by 'junior' staff members from the three TSOs, where experience of 'seniors' is also integrated when needed. Compared to other collaborative activities, it has certain specific features. The JS3P favours staff exchanges, and technical meetings of several days should be planned during a project in order to encourage people to work together. Technical objectives are shared and the work is done jointly (reports, articles). The team involved in the JS3P should be as small as possible to favour its efficiency. The JS3P is short and easy to realize. Its duration is fixed to a maximum of about 12 months with the option to be prolonged. Typical topics are bibliographic work, comparison issues, scientific surveys, benchmark exercises and prospective investigations on innovative ideas. They can be linked to existing joint projects and then form a smaller module integrated into the large project. Topics may concern prospective issues, tentatively investigating new topics that can be seen as exploratory co-operation projects. Subjects may also concern research issues that are not a priority but that deserve to be investigated as new attractive topics. The JS3P is defined and managed by junior staff members. It is approved by a management board committee and supervised by a technical

  20. JS3P: junior staff programme pilot project

    Concept: The objective of the project is to allow junior staff members from the European Technical Safety Organisations (TSOs), IRSN, GRS and AVN, to work together with the final goal of creating a junior staff network, based on technical, cultural and personal interests. These projects are to show junior staff members at a very early stage during their career the need for European collaborations. They are also a tool to explore new subjects of co-operation. It is an initiative that should strengthen the links between the organisations and contribute to establishing the future of nuclear safety in Europe. A JS3P (Junior Staff Programme Pilot Project) is a project done jointly by 'junior' staff members from the three TSOs, where experience of 'seniors' is also integrated when needed. Compared to other collaborative activities, it has certain specific features. The JS3P favours staff exchanges, and technical meetings of several days should be planned during a project in order to encourage people to work together. Technical objectives are shared and the work is done jointly (reports, articles). The team involved in the JS3P should be as small as possible to favour its efficiency. The JS3P is short and easy to realize. Its duration is fixed to a maximum of about 12 months with the option to be prolonged. Typical topics are bibliographic work, comparison issues, scientific surveys, benchmark exercises and prospective investigations on innovative ideas. They can be linked to existing joint projects and then form a smaller module integrated into the large project. Topics may concern prospective issues, tentatively investigating new topics that can be seen as exploratory co-operation projects. Subjects may also concern research issues that are not a priority but that deserve to be investigated as new attractive topics. The JS3P is defined and managed by junior staff members. It is approved by a management board committee and supervised by a technical steering committee

  1. Products of the Benzene + O(3P) Reaction

    Taatjes, Craig A.; Osborn, David L.; Selby, Talitha M.; Meloni, Giovanni; Trevitt, Adam J.; Epifanovsky, Evgeny; Krylov, Anna I.; Sirjean, Baptiste; Dames, Enoch; Wang, Hai

    2009-12-21

    The gas-phase reaction of benzene with O(3P) is of considerable interest for modeling of aromatic oxidation, and also because there exist fundamental questions concerning the prominence of intersystem crossing in the reaction. While its overall rate constant has been studied extensively, there are still significant uncertainties in the product distribution. The reaction proceeds mainly through the addition of the O atom to benzene, forming an initial triplet diradical adduct, which can either dissociate to form the phenoxy radical and H atom, or undergo intersystem crossing onto a singlet surface, followed by a multiplicity of internal isomerizations, leading to several possible reaction products. In this work, we examined the product branching ratios of the reaction between benzene and O(3P) over the temperature range of 300 to 1000 K and pressure range of 1 to 10 Torr. The reactions were initiated by pulsed-laser photolysis of NO2 in the presence of benzene and helium buffer in a slow-flow reactor, and reaction products were identified by using the multiplexed chemical kinetics photoionization mass spectrometer operating at the Advanced Light Source (ALS) of Lawrence Berkeley National Laboratory. Phenol and phenoxy radical were detected and quantified. Cyclopentadiene and cyclopentadienyl radical were directly identified for the first time. Finally, ab initio calculations and master equation/RRKM modeling were used to reproduce the experimental branching ratios, yielding pressure-dependent rate expressions for the reaction channels, including phenoxy + H, phenol, cyclopentadiene + CO, which are proposed for kinetic modeling of benzene oxidation.

  2. Photoinduced Kondo effect in CeZn3P3

    Kitagawa, J.; Kitajima, D.; Shimokawa, K.; Takaki, H.

    2016-01-01

    The Kondo effect, which originates from the screening of a localized magnetic moment by a spin-spin interaction, is widely observed in nonartificial magnetic materials, artificial quantum dots, and carbon nanotubes. In devices based on quantum dots or carbon nanotubes that target quantum information applications, the Kondo effect can be tuned by a gate voltage, a magnetic field, or light. However, the manipulation of the Kondo effect in nonartificial materials has not been thoroughly studied; in particular, the artificial creation of the Kondo effect remains unexplored. Per this subject study, however, a route for the optical creation of the Kondo effect in the nonartificial material p -type semiconductor CeZn3P3 is presented. The Kondo effect emerges under visible-light illumination of the material by a continuous-wave laser diode and is ultimately revealed by photoinduced electrical resistivity, which clearly exhibits a logarithmic temperature dependency. By contrast, a La-based compound (LaZn3P3 ) displays only normal metallic behavior under similar illumination. The photoinduced Kondo effect, which occurs at higher temperatures when compared with the Kondo effect in artificial systems, provides a potential range of operation for not only quantum information/computation devices but also for operation of magneto-optic devices, thereby expanding the range of device applications based on the Kondo effect.

  3. Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1

    Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia; O’Reilly, Martin; Betts, Joshua A.; Hillman, Kristine M.; Kaufmann, Susanne; Beesley, Jonathan; Canisius, Sander; Hopper, John L.; Southey, Melissa C.; Tsimiklis, Helen; Apicella, Carmel; Schmidt, Marjanka K.; Broeks, Annegien; Hogervorst, Frans B.; van der Schoot, C. Ellen; Muir, Kenneth; Lophatananon, Artitaya; Stewart-Brown, Sarah; Siriwanarangsan, Pornthep; Fasching, Peter A.; Ruebner, Matthias; Ekici, Arif B.; Beckmann, Matthias W.; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Pharoah, Paul D.P.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Sawyer, Elinor J.; Tomlinson, Ian; Kerin, Michael J.; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Yang, Rongxi; Surowy, Harald; Guénel, Pascal; Truong, Thérèse; Menegaux, Florence; Sanchez, Marie; Bojesen, Stig E.; Nordestgaard, Børge G.; Nielsen, Sune F.; Flyger, Henrik; González-Neira, Anna; Benitez, Javier; Zamora, M. Pilar; Arias Perez, Jose Ignacio; Anton-Culver, Hoda; Neuhausen, Susan L.; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Schmutzler, Rita K.; Brauch, Hiltrud; Ko, Yon-Dschun; Brüning, Thomas; Nevanlinna, Heli; Muranen, Taru A.; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Tanaka, Hideo; Dörk, Thilo; Bogdanova, Natalia V.; Helbig, Sonja; Lindblom, Annika; Margolin, Sara; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Wu, Anna H.; Tseng, Chiu-chen; Van Den Berg, David; Stram, Daniel O.; Lambrechts, Diether; Zhao, Hui; Weltens, Caroline; van Limbergen, Erik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Radice, Paolo; Peterlongo, Paolo; Barile, Monica; Capra, Fabio; Couch, Fergus J.; Olson, Janet E.; Hallberg, Emily; Vachon, Celine; Giles, Graham G.; Milne, Roger L.; McLean, Catriona; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Simard, Jacques; Goldberg, Mark S.; Labrèche, France; Dumont, Martine; Teo, Soo Hwang; Yip, Cheng Har; See, Mee-Hoong; Cornes, Belinda; Cheng, Ching-Yu; Ikram, M. Kamran; Kristensen, Vessela; Zheng, Wei; Halverson, Sandra L.; Shrubsole, Martha; Long, Jirong; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Kauppila, Saila; Andrulis, Irene L.; Knight, Julia A.; Glendon, Gord; Tchatchou, Sandrine; Devilee, Peter; Tollenaar, Robert A.E.M.; Seynaeve, Caroline; Van Asperen, Christi J.; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J.; Lissowska, Jolanta; Czene, Kamila; Klevebring, Daniel; Darabi, Hatef; Eriksson, Mikael; Hooning, Maartje J.; Hollestelle, Antoinette; Martens, John W.M.; Collée, J. Margriet; Hall, Per; Li, Jingmei; Humphreys, Keith; Shu, Xiao-Ou; Lu, Wei; Gao, Yu-Tang; Cai, Hui; Cox, Angela; Cross, Simon S.; Reed, Malcolm W.R.; Blot, William; Signorello, Lisa B.; Cai, Qiuyin; Shah, Mitul; Ghoussaini, Maya; Kang, Daehee; Choi, Ji-Yeob; Park, Sue K.; Noh, Dong-Young; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Torres, Diana; Jakubowska, Anna; Lubinski, Jan; Jaworska, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Olswold, Curtis; Slager, Susan; Toland, Amanda E.; Yannoukakos, Drakoulis; Shen, Chen-Yang; Wu, Pei-Ei; Yu, Jyh-Cherng; Hou, Ming-Feng; Swerdlow, Anthony; Ashworth, Alan; Orr, Nick; Jones, Michael; Pita, Guillermo; Alonso, M. Rosario; Álvarez, Nuria; Herrero, Daniel; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Baynes, Caroline; Ahmed, Shahana; Healey, Catherine S.; Brown, Melissa A.; Ponder, Bruce A.J.; Chenevix-Trench, Georgia; Thompson, Deborah J.; Edwards, Stacey L.; Easton, Douglas F.; Dunning, Alison M.; French, Juliet D.

    2015-01-01

    Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21–1.27, ptrend = 5.7 × 10−44) and estrogen-receptor-negative (ER−: OR = 1.10, 95% CI = 1.05–1.15, ptrend = 3.0 × 10−4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10−5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87–0.93, pcond = 1.4 × 10−4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival. PMID:25529635

  4. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    Capra Valeria

    2012-10-01

    Full Text Available Abstract Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic features associated with PAFAH1B1 or YWHAE duplication have suggested the need to classify the patient clinical features in two groups according to which gene is involved in the chromosomal duplication. Methods We analyze the proband and his family by classical cytogenetic and array-CGH analyses. The putative rearrangement was confirmed by fluorescence in situ hybridization. Results We have identified a family segregating a 17p13.3 duplication extending 329.5 kilobases by FISH and array-CGH involving the YWHAE gene, but not PAFAH1B1, affected by a mild dysmorphic phenotype with associated autism and mental retardation. We propose that BHLHA9, YWHAE, and CRK genes contribute to the phenotype of our patient. The small chromosomal duplication was inherited from his mother who was affected by a bipolar and borderline disorder and was alcohol addicted. Conclusions We report an additional familial case of small 17p13.3 chromosomal duplication including only BHLHA9, YWHAE, and CRK genes. Our observation and further cases with similar microduplications are expected to be diagnosed, and will help better characterise the clinical spectrum of phenotypes associated with 17p13.3 microduplications.

  5. First Detection of [C I] $^3$P$_1$-$^3$P$_0$ Emission from a Protoplanetary Disk

    Tsukagoshi, Takashi; Saito, Masao; Kitamura, Yoshimi; Shimajiri, Yoshito; Kawabe, Ryohei

    2015-01-01

    We performed single point [C I] $^3$P$_1$-$^3$P$_0$ and CO J=4-3 observations toward three T Tauri stars, DM Tau, LkCa 15, and TW Hya, using the Atacama Large Millimeter/submillimeter Array (ALMA) Band 8 qualification model receiver installed on the Atacama Submillimeter Telescope Experiment (ASTE). Two protostars in the Taurus L1551 region, L1551 IRS 5 and HL Tau, were also observed. We successfully detected [C I] emission from the protoplanetary disk around DM Tau as well as the protostellar targets. The spectral profile of the [C I] emission from the protoplanetary disk is marginally single-peaked, suggesting that atomic carbon (C) extends toward the outermost disk. The detected [C I] emission is optically thin and the column densities of C are estimated to be <~10$^{16}$ cm$^{-2}$ and ~10$^{17}$ cm$^{-2}$ for the T Tauri star targets and the protostars, respectively. We found a clear difference in the total mass ratio of C to dust, $M$(C)/$M$(dust), between the T Tauri stars and protostellar targets; t...

  6. Ge0.83Sn0.17 p-channel metal-oxide-semiconductor field-effect transistors: Impact of sulfur passivation on gate stack quality

    The effect of room temperature sulfur passivation of the surface of Ge0.83Sn0.17 prior to high-k dielectric (HfO2) deposition is investigated. X-ray photoelectron spectroscopy (XPS) was used to examine the chemical bonding at the interface of HfO2 and Ge0.83Sn0.17. Sulfur passivation is found to be effective in suppressing the formation of both Ge oxides and Sn oxides. A comparison of XPS results for sulfur-passivated and non-passivated Ge0.83Sn0.17 samples shows that sulfur passivation of the GeSn surface could also suppress the surface segregation of Sn atoms. In addition, sulfur passivation reduces the interface trap density Dit at the high-k dielectric/Ge0.83Sn0.17 interface from the valence band edge to the midgap of Ge0.83Sn0.17, as compared with a non-passivated control. The impact of the improved Dit is demonstrated in Ge0.83Sn0.17 p-channel metal-oxide-semiconductor field-effect transistors (p-MOSFETs). Ge0.83Sn0.17 p-MOSFETs with sulfur passivation show improved subthreshold swing S, intrinsic transconductance Gm,int, and effective hole mobility μeff as compared with the non-passivated control. At a high inversion carrier density Ninv of 1 × 1013 cm−2, sulfur passivation increases μeff by 25% in Ge0.83Sn0.17 p-MOSFETs

  7. Synthesis and crystal structure of Li3.17(P0.69Ge0.24Mo0.07)O4

    The crystal structure of Li3.17(P0.69Ge0.24Mo0.07)O4, which was synthesized by the flux method under the action of an electric field with a potential difference of 0.8 V, was studied by X-ray diffraction on a Nonius Kappa CCD diffractometer (MoKα radiation, λ = 0.71073 A, R = 0.0137). The crystal structure is based on a tetrahedral framework typical of γ-Li3PO4. The framework of the new compound is formed by (P,Ge,Mo)O4 and LiO4 tetrahedra. The positions of additional Li atoms in the structure of Li3.17(P0.69Ge0.24Mo0.07)O4 are found to be different from those in the structure of Li3.31(P0.69Ge0.31)O4, which is synthesized in the absence of an electric field and also belongs to the γ-Li3PO4 structure type

  8. Four novel Loci (19q13, 6q24, 12q24, and 5q14 influence the microcirculation in vivo.

    M Kamran Ikram

    2010-10-01

    Full Text Available There is increasing evidence that the microcirculation plays an important role in the pathogenesis of cardiovascular diseases. Changes in retinal vascular caliber reflect early microvascular disease and predict incident cardiovascular events. We performed a genome-wide association study to identify genetic variants associated with retinal vascular caliber. We analyzed data from four population-based discovery cohorts with 15,358 unrelated Caucasian individuals, who are members of the Cohort for Heart and Aging Research in Genomic Epidemiology (CHARGE consortium, and replicated findings in four independent Caucasian cohorts (n  =  6,652. All participants had retinal photography and retinal arteriolar and venular caliber measured from computer software. In the discovery cohorts, 179 single nucleotide polymorphisms (SNP spread across five loci were significantly associated (p<5.0×10(-8 with retinal venular caliber, but none showed association with arteriolar caliber. Collectively, these five loci explain 1.0%-3.2% of the variation in retinal venular caliber. Four out of these five loci were confirmed in independent replication samples. In the combined analyses, the top SNPs at each locus were: rs2287921 (19q13; p  =  1.61×10(-25, within the RASIP1 locus, rs225717 (6q24; p = 1.25×10(-16, adjacent to the VTA1 and NMBR loci, rs10774625 (12q24; p  =  2.15×10(-13, in the region of ATXN2,SH2B3 and PTPN11 loci, and rs17421627 (5q14; p = 7.32×10(-16, adjacent to the MEF2C locus. In two independent samples, locus 12q24 was also associated with coronary heart disease and hypertension. Our population-based genome-wide association study demonstrates four novel loci associated with retinal venular caliber, an endophenotype of the microcirculation associated with clinical cardiovascular disease. These data provide further insights into the contribution and biological mechanisms of microcirculatory changes that underlie cardiovascular

  9. A Case of Concurrent Miller-Dieker Syndrome (17p13.3 Deletion) and 22q11.2 Deletion Syndrome.

    Atwal, Paldeep S; Macmurdo, C

    2015-12-01

    Features of Miller-Dieker syndrome (MDS, 17p13.3 deletion syndrome, LIS1-associated lissencephaly) include classic lissencephaly, microcephaly, cardiac malformations, growth restriction, and characteristic facial changes. Individuals with 22q11.2 deletion syndrome (DiGeorge syndrome or velocardiofacial syndrome) are known to have congenital cardiac malformations (in particular conotruncal defects), palatal abnormalities (especially velopharyngeal insufficiency), hypocalcemia, immune deficiency, learning disabilities, and characteristic facial features. This case report describes phenotypic characteristics of a patient with extremely rare instance of having both MDS and 22q11.2 deletion syndrome that is unique in the medical literature. Prognosis in this concurrent phenotype is poor with our patient suffering from several malformations seen in both conditions and expiring in the neonatal period. PMID:27617133

  10. Syntenic homology of human unique DNA sequences within chromossome regions 5q31, 10q22, 13q32-33 and 19q13.1 in the great apes

    Vallente-Samonte Rhea U.

    2000-01-01

    Full Text Available Homologies between chromosome banding patterns and DNA sequences in the great apes and humans suggest an apparent common origin for these two lineages. The availability of DNA probes for specific regions of human chromosomes (5q31, 10q22, 13q32-33 and 19q13.1 led us to cross-hybridize these to chimpanzee (Pan troglodytes, PTR, gorilla (Gorilla gorilla, GGO and orangutan (Pongo pygmaeus, PPY chromosomes in a search for equivalent regions in the great apes. Positive hybridization signals to the chromosome 5q31-specific DNA probe were observed at HSA 5q31, PTR 4q31, GGO 4q31 and PPY 4q31, while fluorescent signals using the chromosome 10q22-specific DNA probe were noted at HSA 10q22, PTR 8q22, GGO 8q22 and PPY 7q22. The chromosome arms showing hybridization signals to the Quint-EssentialTM 13-specific DNA probe were identified as HSA 13q32-33, PTR 14q32-33, GGO 14q32-33 and PPY 14q32-33, while those presenting hybridization signals to the chromosome 19q13.1-specific DNA probe were identified as HSA 19q13.1, PTR 20q13, GGO 20q13 and PPY 20q13. All four probes presumably hybridized to homologous chromosomal locations in the apes, which suggests a homology of certain unique DNA sequences among hominoid species.

  11. Nascent 60S ribosomal subunits enter the free pool bound by Nmd3p.

    Ho, J. H.; Kallstrom, G; Johnson, A. W.

    2000-01-01

    Nmd3p from yeast is required for the export of the large (60S) ribosomal subunit from the nucleus (Ho et al., 2000). Here, we show that Nmd3p forms a stable complex with free 60S subunits. Using an epitope-tagged Nmd3p, we show that free 60S subunits can be coimmunoprecipitated with Nmd3p. The interaction was specific for 60S subunits; 40S subunits were not coimmunoprecipitated. Using this coprecipitation technique and pulse-chase labeling of ribosomal subunit proteins we showed that Nmd3p bo...

  12. Accurate long-range coefficients for two excited like isotope He atoms: He(2 1P)-He(2 1P), He(2 1P)-He(2 3P), and He(2 3P)-He(2 3P)

    A general formalism is used to express the long-range potential energies in inverse powers of the separation distance between two like atomic or molecular systems with P symmetries. The long-range molecular interaction coefficients are calculated for the molecular symmetries Δ, Π, and Σ, arising from the following interactions: He(2 1P)-He(2 1P), He(2 1P)-He(2 3P), and He(2 3P)-He(2 3P). The electric quadrupole-quadrupole term C5, the van der Waals (dispersion) term C6, and higher-order terms C8 and C10 are calculated ab initio using accurate variational wave functions in Hylleraas coordinates with finite nuclear mass effects. A comparison is made with previously published results where available

  13. Relativistic calculations of 3s21S0-3s3p 1P1 and 3s21S0-3s3p 3P1,2 transition probabilities in the Mg isoelectronic sequence

    Using the multi-configuration Dirac—Fock self-consistent field method and the relativistic configuration-interaction method, calculations of transition energies, oscillator strengths and rates are performed for the 3s21S0-3s3p 1P1 spin-allowed transition, 3s21S0-3s3p 3P1,2 intercombination and magnetic quadrupole transition in the Mg isoelectronic sequence (Mg I, Al II, Si III, P IV and S V). Electron correlations are treated adequately, including intravalence electron correlations. The influence of the Breit interaction on oscillator strengths and transition energies are investigated. Quantum electrodynamics corrections are added as corrections. The calculation results are found to be in good agreement with the experimental data and other theoretical calculations. (atomic and molecular physics)

  14. A balanced t(5;17) (p15;q22-23) in chondroblastoma: frequency of the re-arrangement and analysis of the candidate genes

    Chondroblastoma is a benign cartilaginous tumour of bone that predominantly affects the epiphysis of long bones in young males. No recurrent chromosomal re-arrangements have so far been observed. Methods: We identified an index case with a balanced translocation by Combined Binary Ratio-Fluorescent in situ Hybridisation (COBRA-FISH) karyotyping followed by breakpoint FISH mapping and array-Comparative Genomic Hybridisation (aCGH). Candidate region re-arrangement and candidate gene expression were subsequently investigated by interphase FISH and immunohistochemistry in another 14 cases. A balanced t(5;17)(p15;q22-23) was identified. In the index case, interphase FISH showed that the translocation was present only in mononucleated cells and was absent in the characteristic multinucleated giant cells. The t(5;17) translocation was not observed in the other cases studied. The breakpoint in 5p15 occurred close to the steroid reductase 5α1 (SRD5A1) gene. Expression of the protein was found in all cases tested. Similar expression was found for the sex steroid signalling-related molecules oestrogen receptor alpha and aromatase, while androgen receptors were only found in isolated cells in a few cases. The breakpoint in 17q22-23 was upstream of the carbonic anhydrase × (CA10) gene region and possibly involved gene-regulatory elements, which was indicated by the lack of CA10 protein expression in the index case. All other cases showed variable levels of CA10 expression, with low expression in three cases. We report a novel t(5;17)(p15;q22-23) translocation in chondroblastoma without involvement of any of the two chromosomal regions in other cases studied. Our results indicate that the characteristic multinucleated giant cells in chondroblastoma do not have the same clonal origin as the mononuclear population, as they do not harbour the same translocation. We therefore hypothesise that they might be either reactive or originate from a distinct neoplastic clone, although the

  15. KⅧ-TbLⅣ离子3s3p 3P1-3s2 1S0 的自旋禁戒跃迁%Intercombination Transitions 3s3p 3P1-3s2 1S0 in Magnesium-like Ions through KⅧ to TbLⅣ

    牟致栋; 魏琦瑛

    2004-01-01

    在对KⅧ-TbLⅣ离子3s3p 3P1能级结构的多组态相互作用理论HXR方法计算的基础上, 分析了各种效应对等电子序列离子能级结构的影响, 找出了能级沿等电子序列变化的规律性. 预测计算了K Ⅷ-Tb LⅣ离子3s3p 3P1的能级. 由此进一步计算了KⅧ-TbL Ⅳ离子自旋禁戒跃迁3s3p 3P1-3s2 1S0的谱线波长、振子强度和跃迁概率.

  16. Canavan disease: Genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution

    Kaul, R.; Balamurugan, K.; Gao, G.P.; Matalon, R. (Research Institute, Miami, FL (United States))

    1994-05-15

    Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA). Recently, a missense mutation was identified in human ASPA coding sequence from patients with Canavan disease. The human ASPA gene has been cloned and found to span 29 kb of the genome. Human aspartoacylase is coded by six exons intervened by five introns. The exons vary from 94 (exon III) to 514 (exon VI) bases. The exon/intron splice junction sites follow the gt/ag consensus sequence rule. Southern blot analysis of genomic DNA from human/mouse somatic cell hybrid cell lines localized ASPA to human chromosome 17. The human ASPA locus was further mapped in the 17p13-ter region by fluorescence in situ hybridization. The bovine aspa gene has also been cloned, and its exon/intron organization is identical to that of the human gene. The 500-base sequence upstream of the initiator ATG codon in the human gene and that in the bovine gene are 77% identical. Human ASPA coding sequences cross-hybridize with genomic DNA from yeast, chicken, rabbit, cow, dog, mouse, rat, and monkey. The specificity of cross-species hybridization of coding sequences suggests that aspartoacylase has been conserved during evolution. It should now be possible to identify mutations in the noncoding genomic sequences that lead to Canavan disease and to study the regulation of ASPA. 45 refs., 4 figs., 1 tab.

  17. Syntenic homology of human unique DNA sequences within chromossome regions 5q31, 10q22, 13q32-33 and 19q13.1 in the great apes

    Vallente-Samonte Rhea U.; Conte Robert A.; Verma Ram S.

    2000-01-01

    Homologies between chromosome banding patterns and DNA sequences in the great apes and humans suggest an apparent common origin for these two lineages. The availability of DNA probes for specific regions of human chromosomes (5q31, 10q22, 13q32-33 and 19q13.1) led us to cross-hybridize these to chimpanzee (Pan troglodytes, PTR), gorilla (Gorilla gorilla, GGO) and orangutan (Pongo pygmaeus, PPY) chromosomes in a search for equivalent regions in the great apes. Positive hybridization signals to...

  18. The direct measurement of the 3 3P0-3 3P1 fine-structure interval and the gJ-factor of atomic silicon by laser magnetic resonance

    Evenson, K. M.; Beltran-Lopez, V.; Ley-Koo, E.; Inguscio, M.

    1984-01-01

    The J - 1 fine structure interval and the g-factor of the 3P1 state have been determined with high precision in the present laser magnetic resonance measurements of the ground 3p2 3P multiplet of atomic Si. Delta-E(3P1-3P0) = 2,311,755.6(7) MHz, and gJ(3P1) = 1.500830(70). Single-configuration calculations of gJ for 3P1 and 3P2 yield a value for the latter which, at 1.501095, is noted to differ by an unexpectedly large margin from the experimental value.

  19. Relativistic effects on the hyperfine structures of 2p4(3P)3p 2Do, 4Do and 4Po in 19F I

    Carette, Thomas; Nemouchi, Messaoud; Li, Jiguang; Godefroid, Michel

    2013-01-01

    The hyperfine interaction constants of the 2p4(3P)3p 2Do_{3/2,5/2}, 4Do_{1/2-7/2} and 4Po_{1/2-5/2} levels in neutral fluorine are investigated theoretically. Large-scale calculations are carried out using the multiconfiguration Hartree-Fock (MCHF) and Dirac-Hartree-Fock (MCDHF) methods. In the framework of the MCHF approach, the relativistic effects are taken into account in the Breit-Pauli approximation using non relativistic orbitals. In the fully relativistic approach, the orbitals are op...

  20. Medium Effects in Cooling of Neutron Stars and $3P_2$ Neutron Gap

    Grigorian, H.; Voskresensky, D.N.(National Research Nuclear University (MEPhI), Moscow, 115409, Russia)

    2005-01-01

    We study the dependence of the cooling of isolated neutron stars on the magnitude of the $3P_2$ neutron gap. It is demonstrated that our ``nuclear medium cooling'' scenario is in favor of a suppressed value of the $3P_2$ neutron gap.

  1. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

    Curry, Cynthia J; Rosenfeld, Jill A; Grant, Erica; Gripp, Karen W; Anderson, Carol; Aylsworth, Arthur S; Saad, Taha Ben; Chizhikov, Victor V; Dybose, Giedre; Fagerberg, Christina; Falco, Michelle; Fels, Christina; Fichera, Marco; Graakjaer, Jesper; Greco, Donatella; Hair, Jennifer; Hopkins, Elizabeth; Huggins, Marlene; Ladda, Roger; Li, Chumei; Moeschler, John; Nowaczyk, Malgorzata J M; Ozmore, Jillian R; Reitano, Santina; Romano, Corrado; Roos, Laura; Schnur, Rhonda E; Sell, Susan; Suwannarat, Pim; Svaneby, Dea; Szybowska, Marta; Tarnopolsky, Mark; Tervo, Raymond; Tsai, Anne Chun-Hui; Tucker, Megan; Vallee, Stephanie; Wheeler, Ferrin C; Zand, Dina J; Barkovich, A James; Aradhya, Swaroop; Shaffer, Lisa G; Dobyns, William B

    2013-08-01

    Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well-known Miller-Dieker syndrome. A recently described duplication syndrome involving this region has been associated with intellectual impairment, autism and occasional brain MRI abnormalities. We report 34 additional patients from 21 families to further delineate the clinical, neurological, behavioral, and brain imaging findings. We found a highly diverse phenotype with inter- and intrafamilial variability, especially in cognitive development. The most specific phenotype occurred in individuals with large duplications that include both the YWHAE and LIS1 genes. These patients had a relatively distinct facial phenotype and frequent structural brain abnormalities involving the corpus callosum, cerebellar vermis, and cranial base. Autism spectrum disorders were seen in a third of duplication probands, most commonly in those with duplications of YWHAE and flanking genes such as CRK. The typical neurobehavioral phenotype was usually seen in those with the larger duplications. We did not confirm the association of early overgrowth with involvement of YWHAE and CRK, or growth failure with duplications of LIS1. Older patients were often overweight. Three variant phenotypes included cleft lip/palate (CLP), split hand/foot with long bone deficiency (SHFLD), and a connective tissue phenotype resembling Marfan syndrome. The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype was associated with duplication of BHLHA9 as noted in two recent reports. The connective tissue phenotype did not have a convincing critical region. Our experience with this large cohort expands knowledge of this diverse duplication syndrome. PMID:23813913

  2. A Constitutional Translocation t(1;17)(p36.2;q11.2) in a Neuroblastoma Patient Disrupts the Human NBPF1 and ACCN1 Genes

    Staes, Katrien; Vandesompele, Jo; Laureys, Geneviève; De Smet, Els; Berx, Geert; Speleman, Frank; van Roy, Frans

    2008-01-01

    The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17)(p36.2;q11.2) may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types. PMID:18493581

  3. A constitutional translocation t(1;17(p36.2;q11.2 in a neuroblastoma patient disrupts the human NBPF1 and ACCN1 genes.

    Karl Vandepoele

    Full Text Available The human 1p36 region is deleted in many different types of tumors, and so it probably harbors one or more tumor suppressor genes. In a Belgian neuroblastoma patient, a constitutional balanced translocation t(1;17(p36.2;q11.2 may have led to the development of the tumor by disrupting or activating a gene. Here, we report the cloning of both translocation breakpoints and the identification of a novel gene that is disrupted by this translocation. This gene, named NBPF1 for Neuroblastoma BreakPoint Family member 1, belongs to a recently described gene family encoding highly similar proteins, the functions of which are unknown. The translocation truncates NBPF1 and gives rise to two chimeric transcripts of NBPF1 sequences fused to sequences derived from chromosome 17. On chromosome 17, the translocation disrupts one of the isoforms of ACCN1, a potential glioma tumor suppressor gene. Expression of the NBPF family in neuroblastoma cell lines is highly variable, but it is decreased in cell lines that have a deletion of chromosome 1p. More importantly, expression profiling of the NBPF1 gene showed that its expression is significantly lower in cell lines with heterozygous NBPF1 loss than in cell lines with a normal 1p chromosome. Meta-analysis of the expression of NBPF and ACCN1 in neuroblastoma tumors indicates a role for the NBPF genes and for ACCN1 in tumor aggressiveness. Additionally, DLD1 cells with inducible NBPF1 expression showed a marked decrease of clonal growth in a soft agar assay. The disruption of both NBPF1 and ACCN1 genes in this neuroblastoma patient indicates that these genes might suppress development of neuroblastoma and possibly other tumor types.

  4. Microporosity, the wetted layer and the role of CO and CO2 driving the activity of comets 29P/Schwassmann-Wachmann and 17P/Holmes

    Miles, R.

    2013-09-01

    In a previous paper [1], it was shown that melting of cometary ices will occur in the near-surface of some cometary nuclei where the escape of volatiles is restricted by a microporous matrix held together by surface tension forces: the so-called 'wetted layer'. In this paper, two distinct melting regimes are discussed, namely; (a) an 'hydrophobic' regime at heliocentric distances, rh of ~4-10 AU, where the melting of hydrocarbons and especially ethane (C2H6) ice is likely to dominate, and (b) at rh of ~1.5-4.0 AU, where oxygenated, 'hydrophilic' species are more likely to exist in the liquid phase. Literature data show that the thermophysical properties of carbon monoxide (CO) favour solution of this gas in light hydrocarbons, in particular in liquid methane (CH4) and liquid propane (C3H8) near to their melting point (85-90 K). Consequently, CO must also dissolve in liquid C2H6 at very low ambient pressures (methanol (CH3OH) and CH3OH-H2O mixtures at low temperatures and pressures, and especially when approaching freezing point. Thermal gradients within the near-surface generated by the diurnal rotation of the nucleus will concentrate gas solutes in both hydrophobic and hydrophilic environments. Temperature rise and a rapid loss in ambient pressure can result in supersaturation and an explosive release of gas leading to an associated cometary outburst. Thermal cycling can also result in the gradual migration of volatile ices from deep within a microporous nucleus. New observations of comets 29P and 17P, including new observational evidence of the anomalously slow rotation rates of their nuclei, support these hypotheses.

  5. A case of 3p deletion syndrome associated with cerebellar hemangioblastoma.

    Suzuki-Muromoto, Sato; Hino-Fukuyo, Naomi; Haginoya, Kazuhiro; Kikuchi, Atsuo; Sato, Hiroki; Sato, Yuko; Nakayama, Tojo; Kubota, Yuki; Kakisaka, Yosuke; Uematsu, Mitsugu; Kumabe, Toshihiro; Md, Shigeo Kure

    2016-02-01

    We described clinical course of a 24-year-old woman with 3p deletion syndrome associated with cerebellar hemangioblastoma at the age of 16 years old. She presented dysmorphic facial features, growth retardation and severe psychomotor retardation associated with 3p deletion syndrome. We identified de novo 3p deletion encompassing p25 by using array-based comparative genomic hybridization, where causative gene of von Hippel-Lindau (VHL) disease located. Surgical therapy for cerebellar hemangioblastoma was performed, and histological examination was consistent in cerebellar hemangioblastoma. She showed no other tumors associated VHL disease till 24 years old. This is the first case report of a patient with 3p deletion syndrome whose cerebellar hemangioblastoma may be associated with VHL disease. Repeat imaging studies were recommended for the patients with 3p deletion syndrome. PMID:26365017

  6. Further evidence for clustering of human GABA[sub A] receptor subunit genes: Localization of the [alpha][sub 6]-subunit gene (GABRA6) to distal chromosome 5q by linkage analysis

    Hicks, A.A.; Kamphuis, W.; Darlison, M.G. (MRC Molecular Neurobiology Unit, Cambride (United Kingdom)); Bailey, M.E.S.; Johnson, K.J. (Charing Cross and Westminster Medical School, London (United Kingdom)); Riley, B.P. (St. Mary' s Hospital Medical School, London (United Kingdom)); Siciliano, M.J. (Univ. of Texas M.D. Anderson Cancer Center, Houston, TX (United States))

    1994-03-15

    GABA[sub A] receptors are hetero-oligomeric ion-channel complexes that are composed of combinations of [alpha], [beta], [gamma], and [delta] subunits and play a major role in inhibitory neurotransmission in the mammalian brain. The authors report here a microsatellite polymorphism within the human [alpha][sub 6]-subunit gene (GABRA6). Mapping of this marker in a human-hamster hybrid cell-line panel and typing of the repeat in the Centre d'Etude du Polymorphisme Humain (CEPH) reference families enabled the localization of this gene to chromosome 5q and established its linkage to the GABA[sub A] receptor [alpha][sub 1]-subunit gene (GA-BRA1) with a maximum lod score (Z[sub max]) of 39.87 at a [theta] of 0.069 (males) and 0.100 (females). These results reveal the clustering of GABRA6, GABRA1, and the GABA[sub A] receptor [gamma][sub 2]-subunit gene (GABRG2) on distal chromosome 5q. 17 refs., 1 fig., 1 tab.

  7. Ge 3P 6Si 2O 25: A cage structure closely related to the intersecting tunnel structure KMo 3P 6Si 2O 25

    Leclaire, A.; Raveau, B.

    1988-08-01

    A germanosilicophosphate Ge 3P 6Si 2O 25 has been isolated. Its structure was solved from a single-crystal study in the space group P overline31c . Its cell parameters are a = b = 7.994(1) Å, c = 16.513(2) Å, Z = 2. The refinement by full-matrix least-squares calculations leads to R = 0.043 with 686 independent reflections. The structure of this oxide is built up from corner-sharing PO 4 and SiO 4 tetrahedra and GeO 6 octahedra. One observes a feature common to several silicophosphates: the presence of the structural unit P 6Si 2O 25 built up from a disilicate group sharing its corners with six PO 4 tetrahedra. The structural relationships between this oxide and the silicophosphates AMo 3P 6Si 2O 25 and Si 3P 6Si 2O 25 (or Ge 3P 6 Ge 2O 25) are described.

  8. Stark broadening of 3s 3P0-3p 3D and 3p 3D-3d 3F0 transitions along carbon isoelectronic sequences of ions revisited

    The Stark widths of N II and O III spectral lines belonging to 3s 3P0-3p 3D and 3p 3D-3d 3F0 multiplets have been calculated and measured in a capillary discharge plasma. The calculations are extended to the same multiplets of F IV and Ne V ions. The plasma electron density in the capillary discharge is determined from the width of the He II Pβ line, while the electron temperature is measured from the relative intensities of N II lines. A comparison of the experimental and theoretical data shows good mutual agreement, which is well within the estimated experimental and theoretical uncertainties. The theory predicts the ratio of the corresponding N II to O III line widths to be larger than unity, in disagreement with our earlier experiment in a pulsed arc. In the new experiment, where all spectral lines were recorded under the same plasma conditions, the theoretical predictions and the results of the capillary experiment are in agreement. The possible sources of an error in the earlier experiment are indicated

  9. Electronic and Rovibrational Quantum Chemical Analysis of C$_3$P$^-$: The Next Interstellar Anion?

    Fortenberry, Ryan C

    2015-01-01

    C$_3$P$^-$ is analogous to the known interstellar anion C$_3$N$^-$ with phosphorus replacing the nitrogen in a simple step down the periodic table. In this work, it is shown that C$_3$P$^-$ is likely to possess a dipole-bound excited state. It has been hypothesized and observationally supported that dipole-bound excited states are an avenue through which anions could be formed in the interstellar medium. Additionally, C$_3$P$^-$ has a valence excited state that may lead to further stabilization of this molecule, and C$_3$P$^-$ has a larger dipole moment than neutral C$_3$P ($\\sim 6$ D vs. $\\sim 4$ D). As such, C$_3$P$^-$ is probably a more detectable astromolecule than even its corresponding neutral radical. Highly-accurate quantum chemical quartic force fields are also applied to C$_3$P$^-$ and its singly $^{13}$C substituted isotopologues in order to provide structures, vibrational frequencies, and spectroscopic constants that may aid in its detection.

  10. Electronic and rovibrational quantum chemical analysis of C3P-: the next interstellar anion?

    Fortenberry, Ryan C.; Lukemire, Joseph A.

    2015-11-01

    C3P- is analogous to the known interstellar anion C3N- with phosphorus replacing nitrogen in a simple step down the periodic table. In this work, it is shown that C3P- is likely to possess a dipole-bound excited state. It has been hypothesized and observationally supported that dipole-bound excited states are an avenue through which anions could be formed in the interstellar medium. Additionally, C3P- has a valence excited state that may lead to further stabilization of this molecule, and C3P- has a larger dipole moment than neutral C3P (˜6 D versus ˜4 D). As such, C3P- is probably a more detectable astromolecule than even its corresponding neutral radical. Highly accurate quantum chemical quartic force fields are also applied to C3P- and its singly 13C substituted isotopologues in order to provide structures, vibrational frequencies, and spectroscopic constants that may aid in its detection.

  11. Progress on the Multiphysics Capabilities of the Parallel Electromagnetic ACE3P Simulation Suite

    Kononenko, Oleksiy [SLAC National Accelerator Lab., Menlo Park, CA (United States)

    2015-03-26

    ACE3P is a 3D parallel simulation suite that is being developed at SLAC National Accelerator Laboratory. Effectively utilizing supercomputer resources, ACE3P has become a key tool for the coupled electromagnetic, thermal and mechanical research and design of particle accelerators. Based on the existing finite-element infrastructure, a massively parallel eigensolver is developed for modal analysis of mechanical structures. It complements a set of the multiphysics tools in ACE3P and, in particular, can be used for the comprehensive study of microphonics in accelerating cavities ensuring the operational reliability of a particle accelerator.

  12. Sizeable beta-strength in {sup 31}Ar (β3p) decay

    Koldste, G.T. [Department of Physics and Astronomy, Aarhus University, DK-8000 Aarhus C (Denmark); Blank, B. [Centre d' Études Nucléaire de Bordeaux-Gradignan, CNRS/IN2P3 – Université Bordeaux I, F-33175 Gradignan Cedex (France); Borge, M.J.G.; Briz, J.A.; Carmona-Gallardo, M. [Instituto de Estructura de la Materia, CSIC, E-28006 Madrid (Spain); Fraile, L.M. [Grupo de Física Nuclear, Universidad Complutense, CEI Moncloa, E-28040 Madrid (Spain); Fynbo, H.O.U. [Department of Physics and Astronomy, Aarhus University, DK-8000 Aarhus C (Denmark); Giovinazzo, J. [Centre d' Études Nucléaire de Bordeaux-Gradignan, CNRS/IN2P3 – Université Bordeaux I, F-33175 Gradignan Cedex (France); Johansen, J.G. [Department of Physics and Astronomy, Aarhus University, DK-8000 Aarhus C (Denmark); Jokinen, A. [Department of Physics, University of Jyväskylä, FIN-40351 Jyväskylä (Finland); Jonson, B. [Fundamental Fysik, Chalmers Tekniska Högskola, S-41296 Göteborg (Sweden); Kurturkian-Nieto, T. [Centre d' Études Nucléaire de Bordeaux-Gradignan, CNRS/IN2P3 – Université Bordeaux I, F-33175 Gradignan Cedex (France); Nilsson, T. [Fundamental Fysik, Chalmers Tekniska Högskola, S-41296 Göteborg (Sweden); Perea, A.; Pesudo, V. [Instituto de Estructura de la Materia, CSIC, E-28006 Madrid (Spain); and others

    2014-10-07

    We present for the first time precise spectroscopic information on the recently discovered decay mode β-delayed 3p-emission. The detection of the 3p events gives an increased sensitivity to the high energy part of the Gamow–Teller strength distribution from the decay of {sup 31}Ar revealing that as much as 30% of the strength resides in the β3p-decay mode. A simplified description of how the main decay modes evolve as the excitation energy increases in {sup 31}Cl is provided.

  13. Sizeable beta-strength in 31Ar (beta 3p) decay

    T. Koldste, G.; Blank, B.; J. G. Borge, M.;

    2014-01-01

    We present for the first time precise spectroscopic information on the recently discovered decay mode beta-delayed 3p-emission. The detection of the 3p events gives an increased sensitivity to the high energy part of the Gamow-Teller strength distribution from the decay of 31Ar revealing that as...... much as 30% of the strength resides in the beta-3p decay mode. A simplified description of how the main decay modes evolve as the excitation energy increases in 31Cl is provided....

  14. miR-1207-3p Is a Novel Prognostic Biomarker of Prostate Cancer.

    Das, Dibash K; Osborne, Joseph R; Lin, Hui-Yi; Park, Jong Y; Ogunwobi, Olorunseun O

    2016-06-01

    MicroRNAs (miRNAs) have been found to be dysregulated in prostate cancer (PCa). In this study, we investigated if miR-1207-3p is capable of distinguishing between indolent and aggressive PCa and if it contributes to explaining the disproportionate aggressiveness of PCa in men of African ancestry (moAA). A total of 404 patients with primary adenocarcinoma of the prostate were recruited between 1988 and 2003 at the Moffitt Cancer Center, Tampa, FL, USA. Patient clinicopathological features and demographic characteristics such as race were identified. RNA samples from 404 postprostatectomy prostate tumor tissue samples were analyzed by real-time quantitative reverse transcription polymerase chain reaction for the mRNA expression of miR-1207-3p. miR-1207-3p expression in PCa that resulted in overall death or PCa-specific death is significantly higher than in PCa cases that did not. The same positive correlation holds true for other clinical characteristics such as biochemical recurrence, Gleason score, clinical stage, and prostate-specific antigen level. Furthermore, miR-1207-3p expression was significantly less in moAA in comparison to Caucasian men. We also evaluated whether miR-1207-3p is associated with clinical outcomes adjusted for age at diagnosis and tumor stage in the modeling. Using competing risk regression, the PCa patients with a high miR-1207-3p expression (≥6 vs 3) had a high risk to develop PCa recurrence (hazard rate = 2.5, P < .001) adjusting for age at diagnosis and tumor stage. In conclusion, miR-1207-3p is a promising novel prognostic biomarker for PCa. Furthermore, miR-1207-3p may also be important in explaining the disproportionate aggressiveness of PCa in moAA. PMID:27267842

  15. MPI spectroscopy in the region of the 3p Rydberg state of some cycloketones

    Kosmidis, C.; Boulakis, G.; Bolovinos, A.; Tsekeris, P.; Brint, P.

    1992-03-01

    The two-photon resonance three photon ionization spectra of cyclopentanone, cyclohexanone and cycloheptanone in the region of the 3p Rydberg state have been recorded, analysed and compared with the one-photon absorption spectra. A new 3p origin is identified for cyclopentanone. The absence from the MPI spectra of a sharp spectral feature that is observed in the absorption spectra is discussed. Photochemical generation of acetaldehyde is observed at high laser intensities and possible mechanisms for this are considered.

  16. Determination of diffusion, reflection and deexcitation coefficients of metastable excited Ne(3P2) atom

    Suzuki, S.; Itoh, H.

    2016-05-01

    The diffusion coefficient of the metastable excited Ne(3P2) atom in neon, the reflection coefficient of Ne(3P2) at the surface of an electrode and the rate coefficient of Ne(3P2) for collisional quenching by Ne(1S0) were determined from the gas pressure dependence of the effective lifetime of Ne(3P2). The effective lifetime of Ne(3P2) was measured from the transient current after turning off the Ultraviolet (UV) light in a Townsend discharge. The observed transient current waveform was analysed by solving the diffusion equation for the metastable excited Ne(3P2) atom using the third kind of boundary condition. The rate coefficient of Ne(3P2) for collisional quenching by Ne(1S0) and the reflection coefficient were determined by a nonspectroscopic method for the first time in neon to the best of our knowledge and were (3.2  ±  0.4)  ×  10‑16 cm3 s‑1 and 0.10  ±  0.04, respectively. The obtained diffusion coefficient at 1 Torr was 177  ±  17 cm2 s‑1, which is consistent with the value reported by Dixon and Grant. Moreover, the present results are compared with the results of Phelps and were found to be in good agreement. We also discuss the deexcitation rate of Ne(3P2) at pressures of up to 60 Torr in comparison with previously reported values.

  17. MiR-373-3p Promotes Invasion and Metastasis of Lung Adenocarcinoma Cells

    Aibing WU

    2015-07-01

    Full Text Available Background and objective Lung cancer is the leading cause of cancer-related deaths worldwide, and metastasis is the major cause of death in lung cancer patients. MiR-373 is closely associated with invasion and metastasis in other tumor cells. This study explored the expression of miR-373-3p in non-small cell lung cancer (NSCLC and its effect on the invasive and metastatic capabilities of lung adenocarcinoma cells, as well as their mechanisms of action. Methods The expression of miR-373-3p in NSCLC tissues and lung adenocarcinoma cell lines was detected by quantitative reverse transcription polymerase chain reaction. The roles of miR-373-3p in regulating lung adenocarcinoma cell invasion and metastatic properties were analyzed with miR-373-3p mimic/inhibitor-transfected cells via Transwell chamber assay. Matrix metalloproteinase MMP-9 and MMP-14 protein levels were detected by Western blot in lung cancer cells after transfection. Results MiR-373-3p was upregulated in 51 NSCLC tissues and 5 NSCLC cell lines. Gain-of-function and loss-of-function studies showed that overexpression of miR-373-3p promoted H1299 cell migration and invasion, which resulted in upregulation of MMP-9 and MMP-14. By contrast, miR-373-3p knockdown inhibited these processes in A549 cells and downregulated the expression of MMP-9 and MMP-14. Conclusion Our results demonstrated that miR-373-3p participated in the invasion and metastasis of lung adenocarcinoma cells, partly by upregulation of MMP-9 and MMP-14.

  18. Ab-initio calculation of the 2s21S0-2s3p 3P1 intercombination transition in beryllium-like ions

    Transition probabilities of the 2s21S0-2s3p 1,3P1 intercombination and resonance lines have been calculated for 14 beryllium-like ions in the atomic range 7 ≤ Z ≤ 36. We used multiconfiguration Dirac-Fock wave functions to explore the effects of configuration interaction, of electron rearrangement as well as of relativity in a consistent scheme along the isoelectronic sequence. To show the number of configurations needed in a proper expansion of the wave functions we systematically enlarged the basis from small to large-scale. For the low-Z elements, virtual excitations of the 2s and 3p electrons up to the 5l subshells contribute significantly to the intercombination probability even though the transition energies remain almost unaffected by excitations beyond the 3l shells. The incomplete orthogonality of the orbital functions due to the rearrangement of the electron density clearly shifts the intercombination rates and appears to be independent of the configuration expansion. This effect decreases, as expected, at higher nuclear charges. (orig.)

  19. miR-193a-3p is a potential tumor suppressor in malignant pleural mesothelioma.

    Williams, Marissa; Kirschner, Michaela B; Cheng, Yuen Yee; Hanh, Jacky; Weiss, Jocelyn; Mugridge, Nancy; Wright, Casey M; Linton, Anthony; Kao, Steven C; Edelman, J James B; Vallely, Michael P; McCaughan, Brian C; Cooper, Wendy; Klebe, Sonja; Lin, Ruby C Y; Brahmbhatt, Himanshu; MacDiarmid, Jennifer; van Zandwijk, Nico; Reid, Glen

    2015-09-15

    Malignant pleural mesothelioma (MPM) is an asbestos-induced cancer with poor prognosis that displays characteristic alterations in microRNA expression. Recently it was reported that the expression of a subset of microRNAs can distinguish between MPM and adenocarcinoma of the lung. However, the functional importance of these changes has yet to be investigated. We compared expression of miR-192, miR-193a-3p and the miR-200 family in normal pleura and MPM tumor specimens and found a statistically significant reduction in the levels of miR-193a-3p (3.1-fold) and miR-192 (2.8-fold) in MPM. Transfection of MPM cells with a miR-193a-3p mimic resulted in inhibition of growth and an induction of apoptosis and necrosis in vitro. The growth inhibitory effects of miR-193a-3p were associated with a decrease in MCL1 expression and were recapitulated by RNAi-mediated MCL1 silencing. Targeted delivery of miR-193a-3p mimic using EDV minicells inhibited MPM xenograft tumour growth, and was associated with increased apoptosis. In conclusion, miR-193a-3p appears to have importance in the biology of MPM and may represent a target for therapeutic intervention. PMID:26125439

  20. Protective role of miR-23b-3p in kainic acid-induced seizure.

    Zhan, Lianbo; Yao, Yi; Fu, Huajun; Li, Zhenghui; Wang, Fengpeng; Zhang, Xiaobin; He, Wencan; Zheng, Weihong; Zhang, Yunwu; Zheng, Honghua

    2016-07-01

    Dysregulation of microRNAs has been proposed to contribute toward epilepsy. The miRNA miR-23b-3p has been found to protect against neuronal apoptosis and the production of reactive oxygen species. In this study, we assessed the potential role of miR-23b-3p in the kainic acid (KA)-induced seizure model. We found that miR-23b-3p levels were significantly decreased in the brain cortex of mice and in cultured mouse primary neurons treated with KA. Importantly, supplement of miR-23b-3p agomir by an intacerebroventricular injection alleviated seizure behaviors and abnormal cortical electroencephalogram recordings in KA-treated mice. Together, these results indicate that miR-23b-3p plays a crucial role in suppressing seizure formation in experimental models of epilepsy and that miR-23b-3p supplement may be a potential anabolic strategy for ameliorating seizure. PMID:27232518

  1. Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three mentally retarded individuals.

    Granzow, M; Popp, S; Keller, M; Holtgreve-Grez, H; Brough, M; Schoell, B; Rauterberg-Ruland, I; Hager, H D; Tariverdian, G; Jauch, A

    2000-07-01

    Cryptic rearrangements involving the terminal regions of chromosomes are suspected to be the cause of idiopathic mental retardation in a significant number of cases. This finding highlights the necessity of a primary screening test for such chromosome aberrations. Here we present a multiplex fluorescence in situ hybridization telomere integrity assay which allows the detection of submicroscopic aberrations in the telomeric regions of all chromosomes. This novel approach identified an unbalanced cryptic translocation der(5)t(3;5)(q27;p15.3) in a family with three cases of unexplained mental retardation and dysmorphic features. The symptoms of the patients represent neither the classical dup(3q)- nor cri du chat syndrome, although all affected individuals demonstrate several features of both syndromes. The identification of two balanced translocation carriers emphasizes the significance of the telomere integrity assay for genetic counseling and prenatal diagnosis. PMID:10982035

  2. Increased miR-132-3p expression is associated with chronic neuropathic pain.

    Leinders, M; Üçeyler, N; Pritchard, R A; Sommer, C; Sorkin, L S

    2016-09-01

    Alterations in the neuro-immune balance play a major role in the pathophysiology of chronic neuropathic pain. MicroRNAs (miRNA) can regulate both immune and neuronal processes and may function as master switches in chronic pain development and maintenance. We set out to analyze the role of miR-132-3p, first in patients with peripheral neuropathies and second in an animal model of neuropathic pain. We initially determined miR-132-3p expression by measuring its levels in white blood cells (WBC) of 30 patients and 30 healthy controls and next in sural nerve biopsies of 81 patients with painful or painless inflammatory or non-inflammatory neuropathies based on clinical diagnosis. We found a 2.6 fold increase in miR-132-3p expression in WBC of neuropathy patients compared to healthy controls (panimal model of neuropathic pain, the spared nerve injury model (SNI). For this purpose miR-132-3p expression levels were measured in dorsal root ganglia and spinal cord of rats. Subsequently, miR-132-3p expression was pharmacologically modulated with miRNA antagonists or mimetics, and evoked pain and pain aversion were assessed. Spinal miR-132-3p levels were highest 10days after SNI, a time when persistent allodynia was established (pbehavior in the place escape avoidance paradigm (pbehavior in naïve rats (p<0.001). Taken together these results indicate a pro-nociceptive effect of miR-132-3p in chronic neuropathic pain. PMID:27349406

  3. Misregulation of Scm3p/HJURP causes chromosome instability in Saccharomyces cerevisiae and human cells.

    Prashant K Mishra

    2011-09-01

    Full Text Available The kinetochore (centromeric DNA and associated proteins is a key determinant for high fidelity chromosome transmission. Evolutionarily conserved Scm3p is an essential component of centromeric chromatin and is required for assembly and function of kinetochores in humans, fission yeast, and budding yeast. Overexpression of HJURP, the mammalian homolog of budding yeast Scm3p, has been observed in lung and breast cancers and is associated with poor prognosis; however, the physiological relevance of these observations is not well understood. We overexpressed SCM3 and HJURP in Saccharomyces cerevisiae and HJURP in human cells and defined domains within Scm3p that mediate its chromosome loss phenotype. Our results showed that the overexpression of SCM3 (GALSCM3 or HJURP (GALHJURP caused chromosome loss in a wild-type yeast strain, and overexpression of HJURP led to mitotic defects in human cells. GALSCM3 resulted in reduced viability in kinetochore mutants, premature separation of sister chromatids, and reduction in Cse4p and histone H4 at centromeres. Overexpression of CSE4 or histone H4 suppressed chromosome loss and restored levels of Cse4p at centromeres in GALSCM3 strains. Using mutant alleles of scm3, we identified a domain in the N-terminus of Scm3p that mediates its interaction with CEN DNA and determined that the chromosome loss phenotype of GALSCM3 is due to centromeric association of Scm3p devoid of Cse4p/H4. Furthermore, we determined that similar to other systems the centromeric association of Scm3p is cell cycle regulated. Our results show that altered stoichiometry of Scm3p/HJURP, Cse4p, and histone H4 lead to defects in chromosome segregation. We conclude that stringent regulation of HJURP and SCM3 expression are critical for genome stability.

  4. QTL Information Table: 5 [Q-TARO

    Full Text Available Physiological trait Eating quality Grain l/w ratio SSR C)Interval DH from BC3F1 Cai..., C., Bergman, C., and Oard, J.H. (2004). QTL mapping of grain quality traits from the interspecific cross Oryza sativa x O. glaberrima. Theor Appl Genet 109, 630-639. ...

  5. Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems

    Capra Valeria; Mirabelli-Badenier Marisol; Stagnaro Michela; Rossi Andrea; Tassano Elisa; Gimelli Stefania; Gimelli Giorgio

    2012-01-01

    Abstract Background Deletions and duplications of the PAFAH1B1 and YWHAE genes in 17p13.3 are associated with different clinical phenotypes. In particular, deletion of PAFAH1B1 causes isolated lissencephaly while deletions involving both PAFAH1B1 and YWHAE cause Miller-Dieker syndrome. Isolated duplications of PAFAH1B1 have been associated with mild developmental delay and hypotonia, while isolated duplications of YWHAE have been associated with autism. In particular, different dysmorphic fea...

  6. BOREAS Level-3p Landsat TM Imagery: Geocoded and Scaled At-sensor Radiance

    Nickeson, Jaime; Knapp, David; Newcomer, Jeffrey A.; Hall, Forrest G. (Editor); Cihlar, Josef

    2000-01-01

    For BOReal Ecosystem-Atmosphere Study (BOREAS), the level-3p Landsat Thematic Mapper (TM) data were used to supplement the level-3s Landsat TM products. Along with the other remotely sensed images, the Landsat TM images were collected in order to provide spatially extensive information over the primary study areas. This information includes radiant energy, detailed land cover, and biophysical parameter maps such as Fraction of Photosynthetically Active Radiation (FPAR) and Leaf Area Index (LAI). Although very similar to the level-3s Landsat TM products, the level-3p images were processed with ground control information, which improved the accuracy of the geographic coordinates provided. Geographically, the level-3p images cover the BOREAS Northern Study Area (NSA) and Southern Study Area (SSA). Temporally, the four images cover the period of 20-Aug-1988 to 07-Jun-1994. Except for the 07-Jun-1994 image, which contains seven bands, the other three contain only three bands.

  7. A new form of Ca3P2 with a ring of Dirac nodes

    We report the synthesis and crystal structure of a new high-temperature form of Ca3P2. The crystal structure was determined through Rietveld refinements of synchrotron powder x-ray diffraction data. This form of Ca3P2 has a crystal structure of the hexagonal Mn5Si3 type, with a Ca ion deficiency compared to the ideal 5:3 stoichiometry. This yields a stable, charge-balanced compound of Ca2+ and P3−. We also report the observation of a secondary hydride phase, Ca5P3H, which again is a charge-balanced compound. The calculated band structure of Ca3P2 indicates that it is a three-dimensional Dirac semimetal with a highly unusual ring of Dirac nodes at the Fermi level. The Dirac states are protected against gap opening by a mirror plane in a manner analogous to what is seen for graphene

  8. PbS/Cd3P2 quantum heterojunction colloidal quantum dot solar cells

    Here, we demonstrated the quantum heterojunction colloidal quantum dot (CQD) solar cells employing the PbS CQDs/Cd3P2 CQDs architecture in which both the p-type PbS and n-type Cd3P2 CQD layers are quantum-tunable and solution-processed light absorbers. We synthesized well-crystallized and nearly monodispersed tetragonal Cd3P2 CQDs and then engineered their energy band alignment with the p-type PbS by tuning the dot size and hence the bandgap to achieve efficient light absorbing and charge separation. We further optimized the device through the Ag-doping strategy of PbS CQDs that may leverage an expanded depletion region in the n-layer, which greatly enhances the photocurrent. The resulting devices showed an efficiency of 1.5%. (paper)

  9. Influence of Optical Properties on the Spin Polarization of Cu3P Photoelectrons

    Chassé, A.; Niebergall, L.

    We have investigated the influence of optical properties of Cu(001) on the spin polarization in Cu3p photoelectron diffraction patterns. The refraction and absorption of light have been taken into account in the calculation of the dipole transition matrix element. Therefore, a general polarization vector of light is defined within a macroscopic theory of electromagnetic fields. Results are shown and discussed for Cu3p photoelectrons excited by linearly or circularly polarized light, respectively. It is shown that the optical behavior of crystals may cause a symmetry breaking in the angular dependence of the photoelectron intensity. Besides, there are strong quantitative changes in the related spin polarization of Cu3p photoelectrons.

  10. Doubly excited 2s2p 1,3p1 resonances in photoionization of helium

    Wan Jian-Jie; Dong Chen-Zhong

    2009-01-01

    The multi-configuration Dirac-Fock (MCDF) method is implemented to study doubly excited 2s2p 1,3P1 resonances of the helium atom and the interference between photoionization and photoexcitation autoionization processes.In order to reproduce the total photoionization sprectra,the excited energies from the ground ls2 1 S0 state to the doubly excited 2s2p 1'3P1 states and the relevant Auger decay rates and widths are calculated in detail. Furthermore,the interference profile determined by the so-called Fano parameters q and p2 is also reproduced. Good agreement is found between the present results and other available theoretical and experimental results. This indeed shows a promising way to investigate the Fano resonances in photoionization of atoms within the MCDF scheme,although there are some discrepancies in the present calculations of the 2s2p 3P1 state.

  11. Relativistic effects on the hyperfine structures of 2p4(3P)3p 2Do, 4Do and 4Po in 19F I

    Carette, Thomas; Li, Jiguang; Godefroid, Michel

    2013-01-01

    The hyperfine interaction constants of the 2p4(3P)3p 2Do_{3/2,5/2}, 4Do_{1/2-7/2} and 4Po_{1/2-5/2} levels in neutral fluorine are investigated theoretically. Large-scale calculations are carried out using the multiconfiguration Hartree-Fock (MCHF) and Dirac-Hartree-Fock (MCDHF) methods. In the framework of the MCHF approach, the relativistic effects are taken into account in the Breit-Pauli approximation using non relativistic orbitals. In the fully relativistic approach, the orbitals are optimized using the Dirac-Coulomb Hamiltonian with correlation models inspired by the non relativistic calculations. Higher-order excitations are captured through multireference configuration interaction calculations including the Breit interaction. In a third (intermediate) approach, the Dirac-Coulomb-Breit Hamiltonian matrix is diagonalized in a relativistic configuration space built with non relativistic MCHF radial functions converted into Dirac spinors using the Pauli approximation. The magnetic dipole hyperfine struct...

  12. Single gene microdeletions and microduplication of 3p26.3 in three unrelated families

    Kashevarova, Anna A; Nazarenko, Lyudmila P; Schultz-Pedersen, Soren; Skryabin, Nikolay A; Salyukova, Olga A; Chechetkina, Nataliya N; Tolmacheva, Ekaterina N; Rudko, Aleksey A; Magini, Pamela; Graziano, Claudio; Romeo, Giovanni; Joss, Shelagh; Tümer, Zeynep; Lebedev, Igor N

    2014-01-01

    BACKGROUND: Detection of submicroscopic chromosomal alterations in patients with a idiopathic intellectual disability (ID) allows significant improvement in delineation of the regions of the genome that are associated with brain development and function. However, these chromosomal regions usually...... contain several protein-coding genes and regulatory elements, complicating the understanding of genotype-phenotype correlations. We report two siblings with ID and an unrelated patient with atypical autism who had 3p26.3 microdeletions and one intellectually disabled patient with a 3p26.3 microduplication...

  13. Absolute frequency measurement of the magnesium intercombination transition $^1S_0 \\to ^3P_1$

    Friebe, Jan; Pape, André; Riedmann, Matthias; Moldenhauer, Karsten; Mehlstäubler, Tanja; Rehbein, Nils; Lisdat, Christian; Rasel, Ernst M.; Ertmer, Wolfgang; Schnatz, Harald; Lipphardt, Burghard; Grosche, Gesine

    2007-01-01

    We report on a frequency measurement of the $(3s^2)^1S_0\\to(3s3p)^3P_1$ clock transition of $^{24}$Mg on a thermal atomic beam. The intercombination transition has been referenced to a portable primary Cs frequency standard with the help of a femtosecond fiber laser frequency comb. The achieved uncertainty is $2.5\\times10^{-12}$ which corresponds to an increase in accuracy of six orders of magnitude compared to previous results. The measured frequency value permits the calculation of several ...

  14. MiR-373-3p Promotes Invasion and Metastasis of Lung Adenocarcinoma Cells

    Wu, Aibing; Jinmei LI; Kunpeng WU; Mo, Yanli; Luo, Yiping; Haiyin YE; Shen, Xiang; Li, Shujun; Yahai LIANG; Liu, Meilian; Yang, Zhixiong

    2015-01-01

    Background and objective Lung cancer is the leading cause of cancer-related deaths worldwide, and metastasis is the major cause of death in lung cancer patients. MiR-373 is closely associated with invasion and metastasis in other tumor cells. This study explored the expression of miR-373-3p in non-small cell lung cancer (NSCLC) and its effect on the invasive and metastatic capabilities of lung adenocarcinoma cells, as well as their mechanisms of action. Methods The expression of miR-373-3p in...

  15. Domain architectures of the Scm3p protein provide insights into centromere function and evolution

    Aravind, L.; Lakshminarayan, M. Iyer; Wu, Carl

    2007-01-01

    Recently, Scm3p has been shown to be a nonhistone component of centromeric chromatin that binds stoichiometrically to CenH3–H4 histones, and to be required for the assembly of kinetochores in S. cerevisiae. Scm3p is conserved across fungi, and displays a remarkable variation in protein size, ranging from ~200 amino acids in Saccharomyces cerevisiae to ~1300 amino acids in Neurospora crassa. This is primarily due a variable C-terminal segment that is linked to a conserved N-terminal, CenH3-int...

  16. Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles.

    Hoebeeck, Jasmien; De Wilde, Bram; Michels, Evi; Combaret, Valérie; Yigit, Nurten; De Smet, Els; Van Roy, Nadine; Stanbridge, Eric; Ru, Ning; Laureys, Geneviève; De Paepe, Anne; Speleman, Frank; Vandesompele, Jo

    2009-10-01

    Pinpointing critical regions of recurrent loss may help localize tumor suppressor genes. To determine the regions of loss on chromosome 3p in neuroblastoma, we performed loss of heterozygosity analysis using 16 microsatellite markers in a series of 65 primary tumors and 29 neuroblastoma cell lines. In this study, we report the results and discuss the technical hurdles that we encountered during data generation and interpretation that are of relevance for current studies or tests employing microsatellites. To provide functional support for the implication of 3p tumor suppressor genes in this childhood malignancy, we performed a microcell-mediated chromosome 3 transfer in neuroblastoma cells. PMID:19544108

  17. Linkage of atopic dermatitis to chromosomes 4q22, 3p24 and 3q21

    Christensen, Ulla; Møller-Larsen, Steffen; Nyegaard, Mette;

    2009-01-01

    Atopic dermatitis (AD) is a common, itchy skin disease of complex inheritance characterized by dermal and epidermal inflammation. The heritability is considerable and well documented. To date, four genome scans have examined the AD phenotype, showing replicated linkage at 3p26-22, 3q13-21 and 18q11...

  18. Canine-Origin G3P[3] Rotavirus Strain in Child with Acute Gastroenteritis

    De Grazia, Simona; Martella, Vito; Giammanco, Giovanni M; Gòmara, Miren Iturriza; Ramirez, Stefania; Cascio, Antonio; Colomba, Claudia; Arista, Serenella

    2007-01-01

    Infection by an animal-like strain of rotavirus (PA260/97) was diagnosed in a child with gastroenteritis in Palermo, Italy, in 1997. Sequence analysis of VP7, VP4, VP6, and NSP4 genes showed resemblance to a G3P[3] canine strain identified in Italy in 1996. Dogs are a potential source of human viral pathogens.

  19. miR-141-3p inhibits human stromal (mesenchymal) stem cell proliferation and differentiation

    Qiu, Weimin; Kassem, Moustapha

    2014-01-01

    Wnt signaling determines human stromal (mesenchymal) stem cell (hMSC) differentiation fate into the osteoblast or adipocyte lineage. microRNAs (miRNAs) are small RNA molecules of 21-25 nucleotides that regulate many aspects of osteoblast biology. Thus, we examined miRNAs regulated by Wnt signaling...... in hMSC. We identified miRNA (miR)-141-3p as a Wnt target which in turn inhibited Wnt signaling. Moreover, miR-141-3p inhibited hMSC proliferation by arresting cells at the G1 phase of the cell cycle. miR-141-3p inhibited osteoblast differentiation of hMSC as evidenced by reduced alkaline phosphatase...... activity, gene expression and in vitro mineralized matrix formation. Bioinformatic studies, Western blot analysis and 3'UTR reporter assay demonstrated that cell division cycle 25A (CDC25A) is a direct target of miR-141-3p. siRNA-mediated knock-down of CDC25A inhibited hMSC proliferation and osteoblast...

  20. $\\beta$3p- spectroscopy and P-$\\gamma$ width determination in the decay of $^{31}$Ar

    We propose to perform a detailed study of the $\\beta$-decay of the dripline nucleus $^{31}$Ar. This will allow a detailed study of the $\\beta$-delayed 3p-decay as well as provide important information on the resonances of $^{30}$S and $^{29}$P, in particular the ratio between the P- and $\\gamma$- partial widths relevant for astrophysics.

  1. Electron impact investigation of the 3p-Rydberg transitions of acetone

    High resolution (15 meV), gas phase, electron impact energy loss spectra of acetone, and acetone-d6 measured as a function of incident energy and scattering angle have been used to study the anomalously weak 7.4 eV 3p-Rydberg transition in acetone. Assignments made on the basis of isotope shifts and differential electron scattering cross sections show that the weak transition observed optically and in the high energy electron impact spectrum is a forbidden transition to the out-of-plane 3p-Rydberg orbital. The band system is built on a vibronically allowed false origin enabled by the ν23 (CO bend) vibration. The analogous transition in the less symmetric molecule methyl ethyl ketone was observed to be optically allowed. All observed bands could be assigned to the one electronic transition to the out-of-plane 3p-Rydberg orbital. The other two 3p-Rydberg transitions do not appear to be active in acetone or methyl ethyl ketone. An unusual feature of this investigation was the experimental investigation of the relative differential scattering cross sections of both true and false vibronic origins within a single electronic transition. The high energy resolution allowed isotopic substitution, a traditional technique of optical spectroscopy, to be used to establish assignments in an electron impact experiment

  2. Synthesization of the Ar VIII 3s-3p beam-foil decay curve

    The beam-foil decay curve for the 3s-3p transition in Ar VIII has been simulated from experimentally determined relative initial level populations and transition probabilities calculated in the numerical Coulomb approximation. Good agreement is observed between simulated and measured decay curves. A discussion of the simulation is given. (Auth.)

  3. miR-200a-3p regulates TLR1 expression in bacterial challenged miiuy croaker.

    Wang, Yanjin; Xu, Guoliang; Han, Jingjing; Xu, Tianjun

    2016-10-01

    MicroRNAs (miRNAs) are highly conserved, small non-coding RNAs which post-transcriptionally regulate various biological processes by repressing mRNA translation or degradating mRNA. It has been demonstrated that miRNAs play crucial roles in regulating the immune system. In this study, we explored the potential roles of miR-200a-3p in regulating TLR signaling pathway in miiuy croaker. Bioinformatics analysis showed that miiuy croaker TLR1 (mmiTLR1) was a putative target of miR-200a-3p. Negative expression profiles in spleen of Vibrio anguillarum challenged miiuy croaker and in lipopolysaccharide (LPS) stimulated miiuy croaker leukocytes further validated the prediction. Luciferase reporter assays showed that the dual-luciferase reporter fused to the 3'UTR of wild type mmiTLR1 cotransfected with miR-200a-3p mimics exhibited a reduction in luciferase activity compared with the controls. All of the present data provide direct evidence that miR-200a-3p is involved in TLR1 expression modulation in miiuy croaker, which will offer a basis for better understanding of miRNA regulation in fish TLR signaling pathways. PMID:27288848

  4. miR-511-3p Modulates Genetic Programs of Tumor-Associated Macrophages

    Mario Leonardo Squadrito

    2012-02-01

    Full Text Available Expression of the mannose receptor (MRC1/CD206 identifies macrophage subtypes, such as alternatively activated macrophages (AAMs and M2-polarized tumor-associated macrophages (TAMs, which are endowed with tissue-remodeling, proangiogenic, and protumoral activity. However, the significance of MRC1 expression for TAM's protumoral activity is unclear. Here, we describe and characterize miR-511-3p, an intronic microRNA (miRNA encoded by both mouse and human MRC1 genes. By using sensitive miRNA reporter vectors, we demonstrate robust expression and bioactivity of miR-511-3p in MRC1+ AAMs and TAMs. Unexpectedly, enforced expression of miR-511-3p tuned down the protumoral gene signature of MRC1+ TAMs and inhibited tumor growth. Our findings suggest that transcriptional activation of Mrc1 in TAMs evokes a genetic program orchestrated by miR-511-3p, which limits rather than enhances their protumoral functions. Besides uncovering a role for MRC1 as gatekeeper of TAM's protumoral genetic programs, these observations suggest that endogenous miRNAs may operate to establish thresholds for inflammatory cell activation in tumors.

  5. 3P2-3F2 pairing in dense neutron matter: the spectrum of solutions

    The 3P2-3F2 pairing model is generally considered to provide an adequate description of the superfluid states of neutron matter at densities some 2-3 times that of saturated symmetrical nuclear matter. The problem of solving the system of BCS gap equations expressing the 3P2-3F2 model is attacked with the aid of the separation approach. This method, developed originally for quantitative study of S-wave pairing in the presence of strong short-range repulsions, serves effectively to reduce the coupled, singular, nonlinear BCS integral equations to a set of coupled algebraic equations. For the first time, sufficient precision becomes accessible to resolve small energy splittings between the different pairing states. Adopting a perturbative strategy, we are able to identify and characterize the full repertoire of real solutions of the 3P2-3F2 pairing model, in the limiting regime of small tensor-coupling strength. The P-F channel coupling is seen to lift the striking parametric degeneracies revealed by a earlier separation treatment of the pure, uncoupled 3P2 pairing problem. Remarkably, incisive and robust results are obtained solely on the basis of analytic arguments. Unlike the traditional Ginzburg-Landau approach, the analysis is not restricted to the immediate vicinity of the critical temperature, but is equally reliable at zero temperature. Interesting connections and contrasts are drawn between triplet pairing in dense neutron matter and triplet pairing in liquid 3He

  6. Transition probabilities for the 3s2 3p(2P0)-3s3p2(4P) intersystem lines of Si II

    Calamai, Anthony G.; Smith, Peter L.; Bergeson, S. D.

    1993-01-01

    Intensity ratios of lines of the spin-changing 'intersystem' multiplet of S II (4P yields 2P0) at 234 nm have been used to determine electron densities and temperatures in a variety of astrophysical environments. However, the accuracy of these diagnostic calculations have been limited by uncertainties associated with the available atomic data. We report the first laboratory measurement, using an ion-trapping technique, of the radiative lifetimes of the three metastable levels of the 3s3p2 4P term of Si II. Our results are 104 +/- 16, 406 +/- 33, and 811 +/- 77 micro-s for lifetimes of the J = 1/2, 5/2, and 3/2 levels, respectively. A-values were derived from our lifetimes by use of measured branching fractions. Our A-values, which differ from calculated values by 30 percent or more, should give better agreement between modeled and observed Si II line ratios.

  7. Photoelectric characteristics of CH3NH3PbI3/p-Si heterojunction

    Yamei, Wu; Ruixia, Yang; Hanmin, Tian; Shuai, Chen

    2016-05-01

    Organic–inorganic hybrid perovskite CH3NH3PbI3 film is prepared on p-type silicon substrate using the one-step solution method to form a CH3NH3PbI3/p-Si heterojunction. The film morphology and structure are characterized by atomic force microscopy (AFM) and scanning electron microscopy (SEM). The photoelectric properties of the CH3NH3PbI3/p-Si heterojunction are studied by testing the current–voltage (I–V) with and without illumination and capacitance–voltage (C–V) characteristics. It turns out from the I–V curve without illumination that the CH3NH3PbI3/p-Si heterojunction has a rectifier feature with the rectification ratio over 70 at the bias of ±5 V. Also, there appears a photoelectric conversion phenomenon on this heterojunction with a short circuit current (Isc) of 0.16 μA and an open circuit voltage (Voc) of about 10 mV The high frequency C–V characteristic of the Ag/CH3NH3PbI3/p-Si heterojunction turns out to be similar to that of the metal–insulator–semiconductor (MIS) structure, and a parallel translation of the C–V curve along the forward voltage axis is found. This parallel translation means the existence of defects at the CH3NH3PbI3/p-Si interface and positive fixed charges in the CH3NH3PbI3 layer. The defects at the interface of the CH3NH3PbI3/p-Si heterojunction result in the dramatic decline of the Voc. Besides, the C–V test of CH3NH3PbI3 film shows a non-linear dielectric property and the dielectric value is about 4.64 as calculated. Project supported by the Hebei Province Natural Science Foundation of China (No. F2014202184) and the Tianjin Natural Science Foundation of China (No. 15JCZDJC37800).

  8. Parallel 3D Finite Element Particle-in-Cell Simulations with Pic3P

    Candel, A.; Kabel, A.; Lee, L.; Li, Z.; Ng, C.; Schussman, G.; Ko, K.; /SLAC; Ben-Zvi, I.; Kewisch, J.; /Brookhaven

    2009-06-19

    SLAC's Advanced Computations Department (ACD) has developed the parallel 3D Finite Element electromagnetic Particle-In-Cell code Pic3P. Designed for simulations of beam-cavity interactions dominated by space charge effects, Pic3P solves the complete set of Maxwell-Lorentz equations self-consistently and includes space-charge, retardation and boundary effects from first principles. Higher-order Finite Element methods with adaptive refinement on conformal unstructured meshes lead to highly efficient use of computational resources. Massively parallel processing with dynamic load balancing enables large-scale modeling of photoinjectors with unprecedented accuracy, aiding the design and operation of next-generation accelerator facilities. Applications include the LCLS RF gun and the BNL polarized SRF gun.

  9. Gamma-ray irradiation induced bulk photochromism in WO3-P2O5 glass

    Shen, Wei; Baccaro, Stefania; Cemmi, Alessia; Xu, Xiaoqing; Chen, Guorong

    2015-11-01

    In the present work, photochromism of WO3-P2O5 glass under gamma-ray irradiation was reported. As-prepared glass samples with different WO3 content are all optically transparent in the visible wavelength range thanks to the addition of a small amount of oxidizing couple Sb2O3-NaNO3. The photochromic properties are identified by transmission spectra of the glasses before and after irradiation. The results show that the irradiation induced darkening results from the reduction of W6+ to W5+ or W4+. The existence of WO6 clusters in glasses of high WO3 content is proved by XPS, which is the main reason for the obvious photochromic effects. The WO3-P2O5 glass is a promising candidate in gamma-ray sensitive detector.

  10. Redox mechanism in the binary transition metal phosphide Cu3P

    Mauvernay, B.; Doublet, M.-L.; Monconduit, L.

    2006-05-01

    The electrochemical behaviour of the binary transition metal phosphide Cu3P towards lithium is investigated through galvano- and potentiostatic measurements. Obtained through high-temperature synthesis, this system shows a better volumetric capacity than graphite and a good capacity retention. In situ X-ray diffraction and first-principles electronic structure calculations are combined with the electrochemical results to show that the complete insertion of 3Li+ in the Cu3P electrode proceeds with the formation of three intermediate phases of lithium composition LixCu(3-x)P (x=1,2,3). The extra capacity previously observed in discharge is now clearly assigned to lithium insertion into the CuP2 impurity and to SEI reactions.

  11. Chemoimmunotherapy for relapsed/refractory and progressive 17p13-deleted chronic lymphocytic leukemia (CLL) combining pentostatin, alemtuzumab, and low-dose rituximab is effective and tolerable and limits loss of CD20 expression by circulating CLL cells.

    Zent, Clive S; Taylor, Ronald P; Lindorfer, Margaret A; Beum, Paul V; LaPlant, Betsy; Wu, Wenting; Call, Timothy G; Bowen, Deborah A; Conte, Michael J; Frederick, Lori A; Link, Brian K; Blackwell, Sue E; Veeramani, Suresh; Baig, Nisar A; Viswanatha, David S; Weiner, George J; Witzig, Thomas E

    2014-07-01

    Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL) patients with purine analog refractory disease or TP53 dysfunction still have limited treatment options and poor survival. Alemtuzumab-containing chemoimmunotherapy regimens can be effective but frequently cause serious infections. We report a Phase II trial testing the efficacy and tolerability of a short-duration regimen combining pentostatin, alemtuzumab, and low-dose high-frequency rituximab designed to decrease the risk of treatment-associated infections and to limit the loss of CD20 expression by CLL cells. The study enrolled 39 patients with progressive CLL that was either relapsed/refractory (n = 36) or previously untreated with 17p13 deletion (17p13-) (n = 3). Thirteen (33%) patients had both 17p13- and TP53 mutations predicted to be dysfunctional, and eight patients had purine analog refractory CLL without TP53 dysfunction. Twenty-six (67%) patients completed therapy, with only five (13%) patients having treatment-limiting toxicity and no treatment-related deaths. Twenty-two (56%) patients responded to treatment, with 11 (28%) complete responses (four with incomplete bone marrow recovery). Median progression-free survival was 7.2 months, time to next treatment was 9.1 months, and overall survival was 34.1 months. The majority of deaths (82%) were caused by progressive disease, including transformed diffuse large B-cell lymphoma (n = 6). Correlative studies showed that low-dose rituximab activates complement and natural killer cells without a profound and sustained decrease in expression of CD20 by circulating CLL cells. We conclude that pentostatin, alemtuzumab, and low-dose high-frequency rituximab is a tolerable and effective therapy for CLL and that low-dose rituximab therapy can activate innate immune cytotoxic mechanisms without substantially decreasing CD20 expression. PMID:24723493

  12. Ge{sub 0.83}Sn{sub 0.17} p-channel metal-oxide-semiconductor field-effect transistors: Impact of sulfur passivation on gate stack quality

    Lei, Dian; Wang, Wei; Gong, Xiao, E-mail: elegong@nus.edu.sg, E-mail: yeo@ieee.org; Liang, Gengchiau; Yeo, Yee-Chia, E-mail: elegong@nus.edu.sg, E-mail: yeo@ieee.org [Department of Electrical and Computer Engineering, National University of Singapore, Singapore 117576 (Singapore); Zhang, Zheng; Pan, Jisheng [Institute of Material Research and Engineering, A*STAR (Agency for Science, Technology and Research), 3 Research Link, Singapore 117602 (Singapore); Tok, Eng-Soon [Department of Physics, National University of Singapore, Singapore 117551 (Singapore)

    2016-01-14

    The effect of room temperature sulfur passivation of the surface of Ge{sub 0.83}Sn{sub 0.17} prior to high-k dielectric (HfO{sub 2}) deposition is investigated. X-ray photoelectron spectroscopy (XPS) was used to examine the chemical bonding at the interface of HfO{sub 2} and Ge{sub 0.83}Sn{sub 0.17}. Sulfur passivation is found to be effective in suppressing the formation of both Ge oxides and Sn oxides. A comparison of XPS results for sulfur-passivated and non-passivated Ge{sub 0.83}Sn{sub 0.17} samples shows that sulfur passivation of the GeSn surface could also suppress the surface segregation of Sn atoms. In addition, sulfur passivation reduces the interface trap density D{sub it} at the high-k dielectric/Ge{sub 0.83}Sn{sub 0.17} interface from the valence band edge to the midgap of Ge{sub 0.83}Sn{sub 0.17}, as compared with a non-passivated control. The impact of the improved D{sub it} is demonstrated in Ge{sub 0.83}Sn{sub 0.17} p-channel metal-oxide-semiconductor field-effect transistors (p-MOSFETs). Ge{sub 0.83}Sn{sub 0.17} p-MOSFETs with sulfur passivation show improved subthreshold swing S, intrinsic transconductance G{sub m,int}, and effective hole mobility μ{sub eff} as compared with the non-passivated control. At a high inversion carrier density N{sub inv} of 1 × 10{sup 13 }cm{sup −2}, sulfur passivation increases μ{sub eff} by 25% in Ge{sub 0.83}Sn{sub 0.17} p-MOSFETs.

  13. Omega3P: A Parallel Finite-Element Eigenmode Analysis Code for Accelerator Cavities

    Lee, Lie-Quan; Li, Zenghai; Ng, Cho; Ko, Kwok; /SLAC

    2009-03-04

    Omega3P is a parallel eigenmode calculation code for accelerator cavities in frequency domain analysis using finite-element methods. In this report, we will present detailed finite-element formulations and resulting eigenvalue problems for lossless cavities, cavities with lossy materials, cavities with imperfectly conducting surfaces, and cavities with waveguide coupling. We will discuss the parallel algorithms for solving those eigenvalue problems and demonstrate modeling of accelerator cavities through different examples.

  14. Ca3P2 and other topological semimetals with line nodes and drumhead surface states

    Chan, Y.-H.; Chiu, Ching-Kai; Chou, M. Y.; Schnyder, Andreas P.

    2016-05-01

    As opposed to ordinary metals, whose Fermi surfaces are two dimensional, topological (semi)metals can exhibit protected one-dimensional Fermi lines or zero-dimensional Fermi points, which arise due to an intricate interplay between symmetry and topology of the electronic wave functions. Here, we study how reflection symmetry, time-reversal symmetry, SU(2) spin-rotation symmetry, and inversion symmetry lead to the topological protection of line nodes in three-dimensional semimetals. We obtain the crystalline invariants that guarantee the stability of the line nodes in the bulk and show that a quantized Berry phase leads to the appearance of protected surfaces states, which take the shape of a drumhead. By deriving a relation between the crystalline invariants and the Berry phase, we establish a direct connection between the stability of the line nodes and the drumhead surface states. Furthermore, we show that the dispersion minimum of the drumhead state leads to a Van Hove singularity in the surface density of states, which can serve as an experimental fingerprint of the topological surface state. As a representative example of a topological semimetal, we consider Ca3P2 , which has a line of Dirac nodes near the Fermi energy. The topological properties of Ca3P2 are discussed in terms of a low-energy effective theory and a tight-binding model, derived from ab initio DFT calculations. Our microscopic model for Ca3P2 shows that the drumhead surface states have a rather weak dispersion, which implies that correlation effects are enhanced at the surface of Ca3P2 .

  15. Temperature dependence and mechanism of the reaction between O(3P) and chlorine dioxide

    Colussi, A. J.; Sander, S. P.; Fiedl, R. R.

    1992-01-01

    Second-order rate constants for the decay of O(3P) in excess chlorine dioxide, k(II), were measured as a function of total pressure (20-600 Torr argon) and temperature (248-312 K), using flash photolysis-atomic resonance fluorescence. Results indicate that k(II) is pressure dependent with a value, K(b), that is nonzero at zero pressure, and both the third-order rate constant and k(b) have negative temperature dependences.

  16. The Participative Design of an Endoscopy Facility using Lean 3P.

    Smith, Iain

    2016-01-01

    In the UK, bowel cancer is the second largest cancer killer. Diagnosing people earlier can save lives but demand for endoscopies is increasing and this can put pressure on waiting times. To address this challenge, an endoscopy unit in North East England decided to improve their facilities to increase capacity and create environments that improve the experience of users. This presented a significant opportunity for step change improvement but also a problem in terms of creating designs that meet user requirements whilst addressing structural or space constraints. The Lean design process known as '3P' (standing for the production preparation process) was utilised as a participative design strategy to engage stakeholders in the design of the new department. This involved a time-out workshop (or 3P event) in which Lean and participative design tools were utilised to create an innovative design based on 'point of delivery' (POD) principles. The team created a design that demonstrated an increase in treatment room capacity by 25% and bed capacity by 70% whilst reducing travel distance for patients by 25.8% and staff by 27.1%. This was achieved with an increase in available space of only 13%. The Lean 3P method provided a structured approach for corporate and clinical staff to work together with patient representatives as cross-functional teams. This participative approach facilitated communication and learning between stakeholders about care processes and personal preferences. Lean 3P therefore appears to be a promising approach to improving the healthcare facilities design process to meet user requirements. PMID:27493744

  17. Resonant inverse photoemission study of late transition metals at 3p absorption edge

    Full text: Resonant inverse photoemission spectra (RIPES) of late transition metals (TM) were observed near TM 3p absorption edge. The RIPES spectra of polycrystalline Co, Ni and Cu, as well as single crystal Ni, were observed. Figure 1 shows resonant IPES spectra of polycrystalline Co, Ni and Cu, which were prepared by evaporation. These spectra ware excited by energy above 3p absorption edge (off-resonance). Since a core hole is created by these energies, TM 3d → 3p fluorescence peak is observed in each spectrum at high energy, which is indicated by vertical bars. The main peak just above EF is TM 3d structure, while TM 4sp is observed at 10 ∼ 15 eV. In resonant spectra, the 3d structure changes its intensity, while the 4sp structure does not. In case of Ni metal, satellite structures are also observed at about 2 and 4 eV. From a calculation by Tanaka and Jo, which is based on the Anderson impurity model, the observation of satellite structures suggests the 10 ∼ 20 % 3d8 in ground state The RIPES spectra in this study give us a direct evidence of 3d8 component in Ni metal

  18. $^3P_2$-$^3F_2$ Pairing in Dense Neutron Matter The Spectrum of Solutions

    Zverev, M V; Khodel, V A

    2003-01-01

    The $^3P_2$-$^3F_2$ pairing model is generally considered to provide an adequate description of the superfluid states of neutron matter at densities some 2-3 times that of saturated symmetrical nuclear matter. The problem of solving the system of BCS gap equations expressing the $^3P_2$-$^3F_2$ model is attacked with the aid of the separation approach. This method, developed originally for quantitative study of S-wave pairing in the presence of strong short-range repulsions, serves effectively to reduce the coupled, singular, nonlinear BCS integral equations to a set of coupled algebraic equations. For the first time, sufficient precision becomes accessible to resolve small energy splittings between the different pairing states. Adopting a perturbative strategy, we are able to identify and characterize the full repertoire of real solutions of the $^3P_2$-$^3F_2$ pairing model, in the limiting regime of small tensor-coupling strength. The P-F channel coupling is seen to lift the striking parametric degeneracie...

  19. Study of the Ne(^3P_2) + CH_3F Electron Transfer Reaction below 1 Kelvin

    Jankunas, Justin; Osterwalder, Andreas

    2014-01-01

    Relatively little is known about the dynamics of electron transfer reactions at low collision energy. We present a study of Penning ionization of ground state methyl fluoride molecules by electronically excited neon atoms in the 13 $\\mu$eV--4.8 meV (150 mK--56 K) collision energy range, using a neutral-neutral merged beam setup. Relative cross sections have been measured for three Ne($^3P_2$)+ CH$_3$F reaction channels by counting the number of CH$_3$F$^+$, CH$_2$F$^+$, and CH$_3^+$ product ions, as a function of relative velocity between the neon and methyl fluoride molecular beams. Experimental cross sections markedly deviate from the Langevin capture model at collision energies above 20 K. The branching ratios are constant. In other words, the chemical shape of the CH$_3$F molecule, as seen by Ne($^3P_2$) atom, appears not to change as the collision energy is varied, in contrast to related Ne($^3P_J$) + CH$_3$X (X=Cl and Br) reactions at higher collision energies.

  20. Absolute frequency measurement of the magnesium intercombination transition $^1S_0 \\to ^3P_1$

    Friebe, Jan; Riedmann, Matthias; Moldenhauer, Karsten; Mehlstäubler, Tanja; Rehbein, Nils; Lisdat, Christian; Rasel, Ernst M; Ertmer, Wolfgang; Schnatz, Harald; Lipphardt, Burghard; Grosche, Gesine

    2007-01-01

    We report on a frequency measurement of the $(3s^2)^1S_0\\to(3s3p)^3P_1$ clock transition of $^{24}$Mg on a thermal atomic beam. The intercombination transition has been referenced to a portable primary Cs frequency standard with the help of a femtosecond fiber laser frequency comb. The achieved uncertainty is $2.5\\times10^{-12}$ which corresponds to an increase in accuracy of six orders of magnitude compared to previous results. The measured frequency value permits the calculation of several other optical transitions from $^1S_0$ to the $^3P_J$-level system for $^{24}$Mg, $^{25}$Mg and $^{26}$Mg. We describe in detail the components of our optical frequency standard like the stabilized spectroscopy laser, the atomic beam apparatus used for Ramsey-Bord\\'e interferometry and the frequency comb generator and discuss the uncertainty contributions to our measurement including the first and second order Doppler effect. An upper limit of $3\\times10^{-13}$ in one second for the short term instability of our optical f...

  1. Phase transitions in Cd3P2 at high pressures and high temperatures

    Yel'kin, F.S.; Sidorov, V.A.; Waskowska, A.;

    2008-01-01

    The high-pressure, high-temperature structural behaviour of Cd3P2 has been studied using electrical resistance measurements, differential thermal analysis, thermo baric analysis and X-ray diffraction. At room temperature, a phase transformation is observed at 4.0 GPa in compression. The experimen......The high-pressure, high-temperature structural behaviour of Cd3P2 has been studied using electrical resistance measurements, differential thermal analysis, thermo baric analysis and X-ray diffraction. At room temperature, a phase transformation is observed at 4.0 GPa in compression....... The experimental zero-pressure bulk modulus of the low-pressure phase is 64.7(7) GPa, which agrees quite well with the calculated value of 66.3 GPa using the tight-binding linear muffin-tin orbital method within the local density approximation. Tentatively, the high-pressure phase has an orthorhombic crystal...... structure with space group Pmmn (#59). The relative volume change at the phase transition is Delta V/V= -5.5%. Amorphization of the sample occurs above 25 GPa. A P-T phase diagram of Cd3P2 has been constructed. A metastable phase is observed at ambient conditions after heating the sample to above 600 K...

  2. Ypq3p-dependent histidine uptake by the vacuolar membrane vesicles of Saccharomyces cerevisiae.

    Manabe, Kunio; Kawano-Kawada, Miyuki; Ikeda, Koichi; Sekito, Takayuki; Kakinuma, Yoshimi

    2016-06-01

    The vacuolar membrane proteins Ypq1p, Ypq2p, and Ypq3p of Saccharomyces cerevisiae are known as the members of the PQ-loop protein family. We found that the ATP-dependent uptake activities of arginine and histidine by the vacuolar membrane vesicles were decreased by ypq2Δ and ypq3Δ mutations, respectively. YPQ1 and AVT1, which are involved in the vacuolar uptake of lysine/arginine and histidine, respectively, were deleted in addition to ypq2Δ and ypq3Δ. The vacuolar membrane vesicles isolated from the resulting quadruple deletion mutant ypq1Δypq2Δypq3Δavt1Δ completely lost the uptake activity of basic amino acids, and that of histidine, but not lysine and arginine, was evidently enhanced by overexpressing YPQ3 in the mutant. These results suggest that Ypq3p is specifically involved in the vacuolar uptake of histidine in S. cerevisiae. The cellular level of Ypq3p-HA(3) was enhanced by depletion of histidine from culture medium, suggesting that it is regulated by the substrate. PMID:26928127

  3. miR-342-3p affects hepatocellular carcinoma cell proliferation via regulating NF-κB pathway

    Zhao, Liang; Zhang, Yubao, E-mail: zhyb880077@sina.com

    2015-02-13

    Recent research indicates that non-coding microRNAs (miRNAs) help regulate basic cellular processes in many types of cancer cells. We hypothesized that overexpression of miR-342-3p might affect proliferation of hepatocellular carcinoma (HCC) cells. After confirming overexpression of miR-342-3p with qRT-PCR, MTT assay showed that HCC cell proliferation was significantly inhibited by miR-342-3p, and that it significantly decreased BrdU-positive cell proliferation by nearly sixfold. Searching for targets using three algorithms we found that miR-342-3p is related to the NF-κB pathway and luciferase assay found that IKK-γ, TAB2 and TAB3 are miR-342-3p target genes. Results of western blot on extracted nuclear proteins of HepG2 and HCT-116 cells showed that miR-342-3p reduced and miR-342-3p-in increased p65 nuclear levels and qRT-PCR found that NF-κB pathway downstream genes were downregulated by miR-342-3p and upregulated by miR-342-3p-in, confirming that miR-342 targets NF-κB pathway. Overexpression of Ikk-γ, TAB2 and TAB3 partially rescued HCC cells proliferation inhibited by miR-342-3p. Using the GSE54751 database we evaluated expression from 10 HCC samples, which strongly suggested downregulation of miR-342-3p and we also found inverse expression between miR-342-3p and its targets IKK-γ, TAB2 and TAB3 from 71 HCC samples. Our results show that miR-342-3p has a significant role in HCC cell proliferation and is suitable for investigation of therapeutic targets. - Highlights: • MiR-342-3p suppresses hepatocellular carcinoma cell proliferation. • MiR-342-3p targets IKK-γ, TAB2 and TAB3 genes. • MiR-342-3p downregulates NF-kB signaling pathway. • MiR-342-3p is downregulated in clinical hepatocellular carcinoma samples. • The expression of miR-342-3p and its target gene is inversely related.

  4. miR-342-3p affects hepatocellular carcinoma cell proliferation via regulating NF-κB pathway

    Recent research indicates that non-coding microRNAs (miRNAs) help regulate basic cellular processes in many types of cancer cells. We hypothesized that overexpression of miR-342-3p might affect proliferation of hepatocellular carcinoma (HCC) cells. After confirming overexpression of miR-342-3p with qRT-PCR, MTT assay showed that HCC cell proliferation was significantly inhibited by miR-342-3p, and that it significantly decreased BrdU-positive cell proliferation by nearly sixfold. Searching for targets using three algorithms we found that miR-342-3p is related to the NF-κB pathway and luciferase assay found that IKK-γ, TAB2 and TAB3 are miR-342-3p target genes. Results of western blot on extracted nuclear proteins of HepG2 and HCT-116 cells showed that miR-342-3p reduced and miR-342-3p-in increased p65 nuclear levels and qRT-PCR found that NF-κB pathway downstream genes were downregulated by miR-342-3p and upregulated by miR-342-3p-in, confirming that miR-342 targets NF-κB pathway. Overexpression of Ikk-γ, TAB2 and TAB3 partially rescued HCC cells proliferation inhibited by miR-342-3p. Using the GSE54751 database we evaluated expression from 10 HCC samples, which strongly suggested downregulation of miR-342-3p and we also found inverse expression between miR-342-3p and its targets IKK-γ, TAB2 and TAB3 from 71 HCC samples. Our results show that miR-342-3p has a significant role in HCC cell proliferation and is suitable for investigation of therapeutic targets. - Highlights: • MiR-342-3p suppresses hepatocellular carcinoma cell proliferation. • MiR-342-3p targets IKK-γ, TAB2 and TAB3 genes. • MiR-342-3p downregulates NF-kB signaling pathway. • MiR-342-3p is downregulated in clinical hepatocellular carcinoma samples. • The expression of miR-342-3p and its target gene is inversely related

  5. Identification of miR-508-3p and miR-509-3p that are associated with cell invasion and migration and involved in the apoptosis of renal cell carcinoma

    Zhai, Qingna [Department of Clinical Laboratory, Peking University Shenzhen Hospital, Guangdong (China); Shantou University Medical College, Guangdong (China); Zhou, Liang [Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Guangdong (China); Zhao, Chunjuan [Department of Clinical Laboratory, Peking University Shenzhen Hospital, Guangdong (China); Shantou University Medical College, Guangdong (China); Wan, Jun [Section of Biochemistry and Cell Biology, Division of Life Science, The Hong Kong University of Science and Technology (Hong Kong); Yu, Zhendong, E-mail: zhendongyu66@hotmail.com [Department of Clinical Laboratory, Peking University Shenzhen Hospital, Guangdong (China); Guo, Xin; Qin, Jie; Chen, Jing [Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, Guangdong (China); Lu, Ruijing [Department of Clinical Laboratory, Peking University Shenzhen Hospital, Guangdong (China); Shantou University Medical College, Guangdong (China)

    2012-03-23

    Highlights: Black-Right-Pointing-Pointer Previous method was the second-generation sequencing technology. Black-Right-Pointing-Pointer miR-508-3p and miR-509-3p were significantly down-regulated in RCC tissues. Black-Right-Pointing-Pointer They can inhibit cell proliferation and migration and promote cell apoptosis. Black-Right-Pointing-Pointer The expression of miR-508-3p was significantly decreased in RCC patients plasma. Black-Right-Pointing-Pointer miR-508-3p may be a novel diagnostic marker of RCC. -- Abstract: MicroRNAs (miRNAs) have emerged as powerful regulators of multiple processes linked to human cancer, including cell apoptosis, proliferation and migration, suggesting that the regulation of miRNA function could play a critical role in cancer progression. Recent studies have found that human serum/plasma contains stably expressed miRNAs. If they prove indicative of disease states, miRNAs measured from peripheral blood samples may be a source for routine clinical detection of cancer. Our studies showed that both miR-508-3p and miR-509-3p were down-regulated in renal cancer tissues. The level of miR-508-3p but not miR-509-3p in renal cell carcinoma (RCC) patient plasma demonstrated significant differences from that in control plasma. In addition, the overexpression of miR-508-3p and miR-509-3p suppressed the proliferation of RCC cells (786-0), induced cell apoptosis and inhibited cell migration in vitro. Our data demonstrated that miR-508-3p and miR-509-3p played an important role as tumor suppressor genes during tumor formation and that they may serve as novel diagnostic markers for RCC.

  6. Identification of miR-508-3p and miR-509-3p that are associated with cell invasion and migration and involved in the apoptosis of renal cell carcinoma

    Highlights: ► Previous method was the second-generation sequencing technology. ► miR-508-3p and miR-509-3p were significantly down-regulated in RCC tissues. ► They can inhibit cell proliferation and migration and promote cell apoptosis. ► The expression of miR-508-3p was significantly decreased in RCC patients plasma. ► miR-508-3p may be a novel diagnostic marker of RCC. -- Abstract: MicroRNAs (miRNAs) have emerged as powerful regulators of multiple processes linked to human cancer, including cell apoptosis, proliferation and migration, suggesting that the regulation of miRNA function could play a critical role in cancer progression. Recent studies have found that human serum/plasma contains stably expressed miRNAs. If they prove indicative of disease states, miRNAs measured from peripheral blood samples may be a source for routine clinical detection of cancer. Our studies showed that both miR-508-3p and miR-509-3p were down-regulated in renal cancer tissues. The level of miR-508-3p but not miR-509-3p in renal cell carcinoma (RCC) patient plasma demonstrated significant differences from that in control plasma. In addition, the overexpression of miR-508-3p and miR-509-3p suppressed the proliferation of RCC cells (786-0), induced cell apoptosis and inhibited cell migration in vitro. Our data demonstrated that miR-508-3p and miR-509-3p played an important role as tumor suppressor genes during tumor formation and that they may serve as novel diagnostic markers for RCC.

  7. Theoretical study of intramultiplet transitions in collisions of atoms in 3P electronic states with structureless targets: Ca(3P)+He

    The quantum close-coupling (CC) treatment of collisions of an atom in a 3P electronic state with a structureless target is developed, based on earlier work of Mies [Phys. Rev. A 7, 942 (1973)], and a j/sub z/-conserving [coupled-states (CS)] simplification presented. There is no direct coupling between the J = 0 and J = 1 levels; transitions between these levels will occur only as a result of Coriolis coupling involving the J = 2 state. Actual CC and CS calculations are reported for collisions of Ca 43P/sup o/ with He, based on the potential curves of Malvern [J. Phys. B 11, 831 (1978)]. In the CC results, of the three independent cross sections, J = 2→1 is predicted to be largest, and J = 2→0 smallest, over the entire range of collision energies sampled. By contrast, the CS approximation predicts the 1→0 transition to be forbidden, and yields only fair accuracy for the CC 2→1 and 2→0 transitions. The coupling between spin-orbit states is also interpreted within an adiabatic model. A comparison with the experimental results of Yuh and Dagdigian (preceding paper) is made by averaging the CC cross sections over the experimental translational energy distribution. The experimental cross sections for the 2→1 and 2→0 transitions are 3--4 times larger than the theoretical values, and the 2→0 cross section is found experimentally to be approx.3 times larger than the 1→0 cross section, in direct contrast with the theoretical prediction for this ratio

  8. Thr(118Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication

    W. Marques Jr.

    2003-10-01

    Full Text Available The Thr(118Met substitution in the peripheral myelin protein 22 (PMP22 gene has been detected in a number of families with demyelinating Charcot-Marie-Tooth (CMT1 neuropathy or with the hereditary neuropathy with liability to pressure palsy, but in none of them has it consistently segregated with the peripheral neuropathy. We describe here a CMT1 family (a 63-year-old man, his brother and his niece in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene. A genotype/phenotype correlation study showed that the neuropathy segregates with the duplication and that the amino acid substitution does not seem to modify the clinical characteristics or the severity of the peripheral neuropathy. We did not find any evidence to characterize this substitution as a polymorphism in the population studied and we propose that the high frequency reported for this point mutation in the literature suggests that the Thr(118Met substitution may be a hotspot for mutations in the PMP22 gene.

  9. Dsj meson decay in the C{sup 3}P{sub 0} model

    Silva, D.T. da; Silva, M.L.L. da; Quadros, J.N. de; Vasconcellos, C.A.Z.; Hadjimichef, D. [Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS (Brazil)

    2010-07-01

    Full text. Fock-Tani is a field theory formalism appropriated for the simultaneous treatment of composite particles and their constituents. The formalism was originally developed for the treatment of problems in atomic physics and it was extended later on to the treatment of problems on hadron physics. In the Fock-Tani formalism one starts with the Fock representation of the system using field operators of elementary constituents which satisfy canonical (anti) commutation relations. Composite-particle field operators are linear combinations of the elementary-particle operators and do not generally satisfy canonical (anti) commutation relations. 'Ideal' field operators acting on an enlarged Fock space are then introduced in close correspondence with the composite ones. Next, a given unitary transformation, which transforms the single composite states into single ideal states, is introduced. Application of the unitary operator on the microscopic Hamiltonian, or on other hermitian operators expressed in terms of the elementary constituent field operators, gives equivalent operators which contain the ideal field operators. The effective Hamiltonian in the new representation has a clear physical interpretation in terms of the processes it describes. Since all field operators in the new representation satisfy canonical (anti)commutation relations, the standard methods of quantum field theory can then be readily applied. For a long time the pair creation models for strong hadronic decays have been formulated. The {sup 3}P{sub 0} model is typical decay model which considers only OZI-allowed strong decays. The {sup 3}P{sub 0} model considers a quark-antiquark par creation in the presence of the initial state meson. The quark-antiquark par is created with the vacuum quantum numbers. This model can also be obtained from the non-relativistic limit of the pair creation Hamiltonian. Applying the Fock-Tani transformation to the pair creation Hamiltonian produces the

  10. MiR-142-3p is a RANKL-dependent inducer of cell death in osteoclasts.

    Fordham, Jezrom B; Guilfoyle, Katherine; Naqvi, Afsar Raza; Nares, Salvador

    2016-01-01

    MicroRNA are small, non-coding, single-stranded RNAs that are estimated to regulate ~60% of the human genome. MiRNA profiling of monocyte-to-osteoclast differentiation identified miR-142-3p as a miRNA that is significantly, differentially expressed throughout osteoclastogenesis. Enforced expression of miR-142-3p via transient transfection with miR-142-3p mimic inhibited cell-to-cell contact and fusion, decreased protein kinase C alpha expression, and ultimately reduced cell viability. miR-142-3p was also identified as significantly differentially expressed during monocyte-to-macrophage differentiation and overexpression of miR-142-3p prevented their conversion to osteoclasts. Furthermore, the inhibitory effect of miR-142-3p on osteoclastogenesis extended to the conversion of a third osteoclast precursor cell type- dendritic cells. These results demonstrate miR-142-3p to be a negative regulator of osteoclastogenesis from the 3 main precursor cell types: monocytes, macrophages and dendritic cells. Importantly, decreased survival was dependent upon both miR-142-3p expression and RANK-signaling, with no harmful effects detected in the absence of this combination. As such, miR-142-3p represents a novel target for the selective removal of osteoclasts by targeting of osteoclastogenic pathways. PMID:27113904

  11. MicroRNA-409-3p inhibits osteosarcoma cell migration and invasion by targeting catenin-δ1.

    Wu, Shifeng; Du, Xinjie; Wu, Manwu; Du, Hechun; Shi, Xiaoliang; Zhang, Tao

    2016-06-10

    Osteosarcoma is the most common primary bone cancer which is associated with early metastatic potential and poor prognosis. However, the molecular mechanisms underlying osteosarcoma progression are not well characterized. Here, we investigated the role of miR-409-3p in osteosarcoma metastasis. Osteosarcoma tissue showed decreased expression of miR-409-3p compared to adjacent non-tumorous tissue. The expression level of miR-409-3p was negatively correlated with osteosarcoma metastasis. Overexpression of miR-409-3p in osteosarcoma cells (U2OS) inhibited cell migration and invasion. Bioinformatics analysis showed that catenin-δ1 (CTNND1, p120-catenin) is a direct target of miR-409-3p. Overexpression of miR-409-3p repressed the expression of catenin-δ1 in U2OS cells at both mRNA and protein levels. Meanwhile, miR-409-3p repressed the activity of luciferase reporter containing the 3'-untranslated region (3'UTR) of CTNND1 gene. Furthermore, expression of catenin-δ1 rescued the inhibitory effect of miR-409-3p on cell migration and invasion. Altogether, these results indicated that miR-409-3p targets catenin-δ1 to repress osteosarcoma metastasis. PMID:26992637

  12. Quantum chaos in ultracold collisions between Yb($^1$S$_0$) and Yb($^3$P$_2$)

    Green, Dermot G; Frye, Matthew D; Morita, Masato; Hutson, Jeremy M

    2015-01-01

    We calculate and analyze Feshbach resonance spectra for ultracold Yb($^1$S$_0$) + Yb($^3$P$_2$) collisions as a function of an interatomic potential scaling factor $\\lambda$ and external magnetic field. We show that, at zero field, the resonances are distributed randomly in $\\lambda$, but that signatures of quantum chaos emerge as a field is applied. The random zero-field distribution arises from superposition of structured spectra associated with individual total angular momenta. In addition, we show that the resonances in magnetic field in the experimentally accessible range 400 to 2000~G are chaotically distributed, with strong level repulsion that is characteristic of quantum chaos.

  13. Photoionization from the excited (3p, 3d, 4s, 4p) states of sodium

    Calculations are presented for the total cross section (σ) and the angular distribution of asymmetry parameter (β) for photoionization from initial excited (3p, 3d, 4s and 4p) states of sodium atom. Comparison of our results for σ and β is made with other available theoretical calculations and the experimental data. We also present results for the angular distributions in electron-Na+ elastic scattering at energies of k 0.5 and 1.0 a0. (author). 43 refs., 7 figs., 2 tabs

  14. Gene-centric Association Mapping of Chromosome 3p implicates MST1 in IBD pathogenesis

    Goyette, Philippe; Ng, Aylwin; Lefebvre, Céline; Brant, Steven R.; Cho, Judy H; Duerr, Richard H.; Silverberg, Mark S; Kent D. Taylor; Latiano, Anna; Aumais, Guy; Deslandres, Colette; Jobin, Gilles; Annese, Vito; Daly, Mark J.; Xavier, Ramnik J.

    2008-01-01

    Association mapping and candidate gene studies within IBD linkage regions, as well as genome-wide association studies in CD have led to the discovery of multiple risk genes, but these only explain a fraction of the genetic susceptibility observed in IBD. We have thus been pursuing a region on chromosome 3p21-22 showing linkage to CD and UC using a gene-centric association mapping approach. We identified twelve functional candidate genes by searching for literature co-citations with relevant k...

  15. Electron-phonon superconductivity in $A$Pt$_3$P compounds: from weak to strong coupling

    Subedi, Alaska; Ortenzi, Luciano; Boeri, Lilia

    2012-01-01

    We study the newly discovered Pt phosphides $A$Pt$_3$P ($A$=Sr, Ca, La) [ T. Takayama et al. Phys. Rev. Lett. 108, 237001 (2012)] using first-principles calculations and Migdal-Eliashberg theory. Given the remarkable agreement with the experiment, we exclude the charge-density wave scenario proposed by previous first-principles calculations, and give conclusive answers concerning the superconducting state in these materials. The pairing increases from La to Ca and Sr due to changes in the ele...

  16. A quasi-particle description of the M(3,p) models

    Jacob, P.; Mathieu, P

    2005-01-01

    The M(3,p) minimal models are reconsidered from the point of view of the extended algebra whose generators are the energy-momentum tensor and the primary field \\phi_{2,1} of dimension $(p-2)/4$. Within this framework, we provide a quasi-particle description of these models, in which all states are expressed solely in terms of the \\phi_{2,1}-modes. More precisely, we show that all the states can be written in terms of \\phi_{2,1}-type highest-weight states and their phi_{2,1}-descendants. We fu...

  17. Absolute frequency measurement of the 1S0 - 3P0 transition of 171Yb

    Pizzocaro, Marco; Rauf, Benjamin; Bregolin, Filippo; Milani, Gianmaria; Clivati, Cecilia; Costanzo, Giovanni A; Levi, Filippo; Calonico, Davide

    2016-01-01

    We report the absolute frequency measurement of the unperturbed transition 1S0 - 3P0 at 578 nm in 171Yb realized in an optical lattice frequency standard. The absolute frequency is measured 518 295 836 590 863.55(28) Hz relative to a cryogenic caesium fountain with a fractional uncertainty of 5.4x10-16 . This value is in agreement with the ytterbium frequency recommended as a secondary representation of the second in the International System of Units.

  18. Diagnostic value of solitary pulmonary nodules using 99Tm-3P4-RGD2 scintigraphy

    Objective: To investigate the value of 99Tcm-HYNIC-(poly-(ethylene glycol), PEG)4-E (PEG4-c(RGDfK))2 (99Tcm-3P4-RGD2) SPECT imaging in the diagnosis of SPN by visual and semiquantitative analysis.Methods Twenty-one patients (13 men, 8 women; age range 37-77 (58±11) years) with SPN observed on CT were analyzed prospectively. All patients underwent SPECT imaging after administration of 99Tcm-3P4-RGD2 with a dose of (939 ± 118) MBq. The gold standard was based on the histopathological diagnosis of the surgical samples from all recruited patients. The diagnostic performance of CT, SPECT visual and semiquantitative analysis was compared and analyzed with ROC curves. Immunohistochemistry was performed in part of the samples to obtain the information of integrin αvβ3 expression. Informed consent was obtained from all patients. Application of a new radiopharmaceutical was permitted and approved by the local independent Ethics Committee and the Institutional Review Board of the China-Japan Union Hospital. One-way analysis of variance,two-sample t test were used with SPSS 13.0. Results: Among the 21 SPN patients, 15 cases (71%) were diagnosed as malignant, and the other 6 (29%) were benign. T/NT ratio in malignant SPN was higher than that in benign SPN (1.87 ± 0.39 vs 1.41 ± 0.65), but with no statistical significance (t=2.01, P>0.05). The sensitivities for CT, SPECT visual and semiquantitative analysis were 80% (12/15), 100% (15/15) and 100% (15/15) respectively,and the specificity were all 4/6. The AUC was 0.811 (95% CI 58%-95%) for CT, 0.833 (95% CI 61%-96%) for SPECT and 0.844 (95% CI 62%-96%) for T/NT ratios, which showed no statistical significance (F=0.83, P>0.05). Immunohistochemistry confirmed αvβ3 expression in both the malignant and benign nodules which had uptake of 99Tcm-3P4-RGD2 in SPECT imaging. Conclusion: SPECT visual and semiquantitative analysis with 99Tcm-3P4-RGD2 appears to have high sensitivity and consistency in diagnosis of SPN. (authors)

  19. High current Cu3P liquid metal ion source using a novel extractor configuration

    Higuchi-Rusli, R. H.; Corelli, J. C.

    1987-12-01

    It has been found that by utilizing a sharp needle for the extractor electrode in close proximity to the source tip wetted with Cu3P liquid alloy, a large increase (factor ˜300) in ion current is observed in comparison to standard liquid metal ion sources (LMIS's). In standard previously used LMIS's the extractor electrode was a flat plane with a circular hole centered on the source needle tip. This new high current source has important applications in focused and broad ion beam deposition systems.

  20. Pulsar Spin-Down by 3P2 Superfluid Neutron with Field Decay

    LUO Xin-Lian; PENG Qiu-He; CHOU Chih-Kang

    2003-01-01

    To describe pulsar spin-down, we present a simple combined torque model that takes into account both the standard magnetic dipole radiation and the electromagnetic radiation from the 3P2 superSuid vortex neutrons inside neutron star. Using an ordinary exponential model for the magnetic field decay, we derive an analytical formulae for pulsar evolution tracks. The pulsar evolution on the P-P diagram is quite different from that of the standard magnetic dipole radiation model, especially when the supernuid torque or Geld decay becomes dominant.

  1. sup 3 P sub 0 study of meson decays in a chiral quark model

    Bonnaz, R; Silvestre-Brac, B; Fernández, F; Valcarce, A

    2001-01-01

    The strong decays of a meson into two mesons are studied in the framework of the sup 3 P sub 0 model. The meson wave functions are determined by means of a realistic chiral quark model constructed in the baryon sector and comparison is made with a traditional potential of 'Coulomb + linear' type. Two different forms for the creation vertex are analyzed. A momentum dependent vertex is proved to be definitively superior. The chiral quark model provides an overall good description of all known transitions and gives results of roughly the same quality as those obtained from phenomenological quark-antiquark potentials.

  2. MiR-519d-3p suppresses invasion and migration of trophoblast cells via targeting MMP-2.

    Jie Ding

    Full Text Available Our study was approved by the Medical Ethics Committee of Tang Du Hospital, Fourth Military Medical University and complied strictly with national ethical guidelines. Preeclampsia (PE is a specific clinical disorder characterized by gestational hypertension and proteinuria and is a leading cause of maternal and perinatal mortality worldwide. The miR-519d-3p is upregulated in the maternal plasma of patients with PE which indicates a possible association between this microRNA and the pathogenesis of PE. No studies to date have addressed the effect of miR-519d-3p on the invasion and migration of trophoblast cells. In our study, we found that miR-519d-3p expression was elevated in placental samples from patients with PE. In vitro, overexpression of miR-519d-3p significantly inhibited trophoblast cell migration and invasion, whereas transfection of a miR-519d-3p inhibitor enhanced trophoblast cell migration and invasion. Luciferase assays confirmed that matrix metalloproteinase-2 (MMP-2 is a direct target of miR-519d-3p. Quantitative real-time PCR and western blot assays showed that overexpression of miR-519d-3p downregulated MMP-2 mRNA and protein expression. Knockdown of MMP-2 using a siRNA attenuated the increased trophoblast migration and invasion promoted by the miR-519d-3p inhibitor. In placentas from patients with PE or normal pregnancies, a negative correlation between the expression of MMP-2 and miR-519d-3p was observed using the Pearson correlation and linear regression analysis. Our present findings suggest that upregulation of miR-519d-3p may contribute to the development of PE by inhibiting trophoblast cell migration and invasion via targeting MMP-2; miR-519d-3p may represent a potential predictive and therapeutic target for PE.

  3. A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.

    Lovrecic, Luca; Bertok, Sara; Žerjav Tanšek, Mojca

    2016-05-01

    Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a de novo deletion of 3p21.31, encompassing 29 OMIM genes. Despite the wide use of microarrays, no similar case has been reported in the literature so far. Five overlapping cases are deposited in the DECIPHER database, 2 of which have significant overlapping chromosomal aberrations. They both share some phenotypic characteristics with our case, e.g. developmental delay, intellectual disability and facial dysmorphism (arched eyebrows, hypertelorism, low-set ears, and a large nose tip). In addition, loss-of-function mutations in the SETD2 gene (OMIM 612778) of the deleted region have been described in 3 patients, presenting with some similar clinical features, namely overgrowth, intellectual disability, speech delay, hypotonia, autism, and epilepsy. Therefore, SETD2 may explain part of the phenotype in our case. We focused on 3 other genes in the deleted region, based on their known functions, namely CSPG5 (OMIM 606775), PTH1R (OMIM 168468) and SMARCC1 (OMIM 601732), and assessed their potentially important role in describing the patient's phenotype. Additional cases with haploinsufficiency of this region are needed to elucidate further genotype-phenotype correlations. PMID:27385966

  4. Optical potentials for Ne*(3P2,0)-Ar, N2 interactions

    Baudon, J.; Feron, P.; Miniatura, C.; Perales, F.; Reinhardt, J.; Robert, J.; Haberland, H.; Brunetti, B.; Vecchiocattivi, F.

    1991-08-01

    The differential elastic cross sections for Ne*(3P2,0)-Ar and Ne*(3P2,0)-N2 collisions have been measured in crossed beam experiments at 0.064 and 0.318 and at 0.071 and 0.295 eV, collision energies, respectively. These results have been analyzed simultaneously with integral cross sections and total ionization cross sections already available and optical spherical potentials for these two systems have been obtained. These potentials appear to be rather accurate in the distance range from 2.5 to ˜9 and from 3.0 to ˜9 Å for Ne*-Ar and Ne*-N2, respectively. The well depths and equilibrium distances are 5.12 meV and 4.9 Å for Ne*-Ar and 3.56 meV and 5.40 Å for Ne*-N2. The short-range repulsion in both cases exhibits a change in slope which can be correlated with the influence, for the interaction at shorter distances, of the Ne+ core of the metastable atom, which becomes less effective when the intermolecular distance increases. The optical potentials proposed here are given in analytical form suitable for the calculation of dynamical observables of these systems.

  5. Hyperfine Quenching of the 2s2p 3P0 State of Berylliumlike Ions

    Cheng, K T; Chen, M H; Johnson, W R

    2008-03-13

    The hyperfine-induced 2s2p {sup 3}P{sub 0}-2s{sup 2} {sup 1}S{sub 0} transition rate for Be-like {sup 47}Ti{sup 18+} was recently measured in a storage-ring experiment by Schippers et al. [Phys. Rev. Lett. 98, 033001 (2007)]. The measured value of 0.56(3) s{sup -1} is almost 60% larger than the theoretical value of 0.356 s{sup -1} from a multiconfiguration Dirac-Fock calculation by Marques et al. [Phys. Rev. A 47, 929 (1993)]. In this work, we use a large-scale relativistic configuration-interaction method to calculate these hyperfine-induced rates for ions with Z = 6-92. Coherent hyperfine-quenching effects between the 2s2p {sup 1,3}P{sub 1} states are included in a perturbative as well as a radiation damping approach. Contrary to the claims of Marques et al., contributions from the {sup 1}P{sub 1} state are substantial and lead to a hyperfine-induced rate of 0.67 s{sup -1}, in better agreement with, though larger than, the measured value.

  6. A Mixed-Valent Molybdenum Monophosphate with a Layer Structure: KMo 3P 2O 14

    Guesdon, A.; Borel, M. M.; Leclaire, A.; Grandin, A.; Raveau, B.

    1994-03-01

    A new mixed-valent molybdenum monophosphate with a layer structure KMo 3P 2O 14 has been isolated. It crystallizes in the space group P2 1/ m with a = 8.599(2) Å, b = 6.392(2) Å, c = 10.602(1) Å, and β = 111.65(2)°. The layers [Mo 3P 2O 14] ∞ are parallel to (100) and consist of [MoPO 8] ∞ chains running along limitb→ , in which one MoO 6 octahedron alternates with one PO 4 tetrahedron. In fact, four [MoPO 8] ∞ chains share the corners of their polyhedra and the edges of their octahedra, forming [Mo 4P 4O 24] ∞ columns which are linked through MoO 5 bipyramids along limitc→. The K + ions interleaved between these layers are surrounded by eight oxygens, forming bicapped trigonal prisms KO 8. Besides the unusual trigonal bipyramids MoO 5, this structure is also characterized by a tendency to the localization of the electrons, since one octahedral site is occupied by Mo(V), whereas the other octahedral site and the trigonal bipyramid are occupied by Mo(VI). The similarity of this structure with pure octahedral layer structures suggests the possibility of generating various derivatives, and of ion exchange properties.

  7. Controlling the $2p$ Hole Alignment in Neon via the $2s$-$3p$ Fano Resonance

    Heinrich-Josties, Elisabeth; Santra, Robin

    2014-01-01

    We study the state-resolved production of neon ion after resonant photoionization of Ne via the $2s$-$3p$ Fano resonance. We find that by tuning the photon energy across the Fano resonance a surprisingly high control over the alignment of the final $2p$ hole along the polarization direction can be achieved. In this way hole alignments can be created that are otherwise very hard to achieve. The mechanism responsible for this hole alignment is the destructive interference of the direct and indirect (via the autoionizing $2s^{-1}3p$ state) ionization pathways of $2p$. By changing the photon energy the strength of the interference varies and $2p$-hole alignments with ratios up to 19:1 between $2p_0$ and $2p_{\\pm 1}$ holes can be created: an effect normally only encountered in tunnel ionization using strong-field IR pulses. Including spin-orbit interaction does not change the qualitative feature and leads only to a reduction in the alignment by $2/3$. Our study is based on a time-dependent configuration-interactio...

  8. CHARACTERIZATION AND CHROMOSOMAL ASSIGNMENT OF YEAST ARTIFICIAL CHROMOSOMES CONTAINING HUMAN 3P13-P21-SPECIFIC SEQUENCE-TAGGED SITES

    MICHAELIS, SC; BARDENHEUER, W; LUX, A; SCHRAMM, A; GOCKEL, A; SIEBERT, R; WILLERS, C; SCHMIDTKE, K; TODT, B; VANDERHOUT, AH; BUYS, CHCM; HEPPELLPARTON, AC; RABBITTS, PH; UNGAR, S; SMITH, D; LEPASLIER, D; COHEN, D; OPALKA, B; SCHUTTE, J

    1995-01-01

    Human chromosomal region 3p12-p23 is proposed to harbor at least three tumor suppressor genes involved in the development of lung cancer, renal cell carcinoma, and other neoplasias. In order to identify one of these genes we defined sequence tagged sites (STSs) specific for 3p13-p24.2 by analyzing a

  9. Interaction between 4p photoionization and 3p resonant excitation channels of krypton

    Complete text of publication follows. The angular distribution of Kr 4p photoelectrons was measured employing a linearly polarized photon beam at energies from 205 eV to 230 eV. In this range the Kr 3p→ns/md (n,m=4,5,6, etc.) resonances can be excited. The experimental anisotropy parameters (β, γ and δ) were determined for the Kr 4p shell and its fine structure components. The measurement was carried out at beamline BW3 of the DORIS III synchrotron light source at HASYLAB (Hamburg, Germany). The ESA-22D electrostatic electron spectrometer was used to analyze the emitted electrons. The spectrometer consists of a spherical and a cylindrical mirror analyzer. The spherical mirror focuses the electrons from the scattering plane to the entrance slit of the cylindrical analyzer performing the energy analysis of the electrons. (For detailed description of an ESA- 22-type electron spectrometer see Ref. [1].) The measured dipole anisotropy parameters ? of Kr 4p photoelectrons are shown in Fig. 1 as a function of photon energy. Resonance-like structure can be seen in the photon energy dependence of the dipole parameters. This structure indicates that the channel interactions are important between the 3p resonant excitation-autoionization and 4p direct photoionization processes in krypton. The natural line width of the 3p photoelectron peaks was determined from the measured spectra and it is about 0.8 eV while the experimental width of the resonance near 220 eV photon energy (3p1/2-1→5s resonant excitation) is approximately 2 eV in Fig. 1. This broadening can be explained with the strong interference between the ionization and excitation channels. As before, we conclude that the angular distribution of photoelectrons is strongly influenced by the excitation processes. Acknowledgements. The authors wish to thank the DORIS III staff for providing excellent working conditions. This work was supported by the NKTH-OTKA (Grant No. K67719), and by the European Community

  10. Unified interpretation of Hund's first and second rules for 2p and 3p atoms.

    Oyamada, Takayuki; Hongo, Kenta; Kawazoe, Yoshiyuki; Yasuhara, Hiroshi

    2010-10-28

    A unified interpretation of Hund's first and second rules for 2p (C, N, O) and 3p (Si, P, S) atoms is given by Hartree-Fock (HF) and multiconfiguration Hartree-Fock (MCHF) methods. Both methods exactly satisfy the virial theorem, in principle, which enables one to analyze individual components of the total energy E(=T+V(en)+V(ee)), where T, V(en), and V(ee) are the kinetic, the electron-nucleus attraction, and the electron-electron repulsion energies, respectively. The correct interpretation for each of the two rules can only be achieved under the condition of the virial theorem 2T+V=0 by investigating how V(en) and V(ee) interplay to attain the lower total potential energy V(=V(en)+V(ee)). The stabilization of the more stable states for all the 2p and 3p atoms is ascribed to a greater V(en) that is caused by contraction of the valence orbitals accompanied with slight expansion of the core orbitals. The contraction of the valence orbitals for the two rules is a consequence of reducing the Hartree screening of the nucleus at short interelectronic distances. The reduced screening in the first rule is due to a greater amount of Fermi hole contributions in the state with the highest total spin-angular momentum S. The reduced screening in the second rule is due to the fact that two valence electrons are more likely to be on opposite sides of the nucleus in the state with the highest total orbital-angular momentum L. For each of the two rules, the inclusion of correlation does not qualitatively change the HF interpretation, but HF overestimates the energy difference ∣ΔE∣ between two levels being compared. The magnitude of the correlation energy is significantly larger for the lower L states than for the higher L states since two valence electrons in the lower L states are less likely to be on opposite sides of the nucleus. The MCHF evaluation of ∣ΔE∣ is in excellent agreement with experiment. The present HF and MCHF calculations demonstrate the above statements

  11. Functional Expression and Characterization of Schizosaccharomyces pombe Avt3p as a Vacuolar Amino Acid Exporter in Saccharomyces cerevisiae.

    Soracom Chardwiriyapreecha

    Full Text Available In Saccharomyces cerevisiae, Avt3p and Avt4p mediate the extrusion of several amino acids from the vacuolar lumen into the cytosol. SpAvt3p of Schizosaccharomyces pombe, a homologue of these vacuolar amino acid transporters, has been indicated to be involved in spore formation. In this study, we confirmed that GFP-SpAvt3p localized to the vacuolar membrane in S. pombe. The amounts of various amino acids increased significantly in the vacuolar pool of avt3Δ cells, but decreased in that of avt3+-overexpressing avt3Δ cells. These results suggest that SpAvt3p participates in the vacuolar compartmentalization of amino acids in S. pombe. To examine the export activity of SpAvt3p, we expressed the avt3+ gene in S. cerevisiae cells. We found that the heterologously overproduced GFP-SpAvt3p localized to the vacuolar membrane in S. cerevisiae. Using the vacuolar membrane vesicles isolated from avt3+-overexpressing S. cerevisiae cells, we detected the export activities of alanine and tyrosine in an ATP-dependent manner. These activities were inhibited by the addition of a V-ATPase inhibitor, concanamycin A, thereby suggesting that the activity of SpAvt3p is dependent on a proton electrochemical gradient generated by the action of V-ATPase. In addition, the amounts of various amino acids in the vacuolar pools of S. cerevisiae cells were decreased by the overproduction of SpAvt3p, which indicated that SpAvt3p was functional in S. cerevisiae cells. Thus, SpAvt3p is a vacuolar transporter that is involved in the export of amino acids from S. pombe vacuoles.

  12. MicroRNA-490-3p inhibits proliferation of A549 lung cancer cells by targeting CCND1

    Highlights: • We examined the level of miR-490-3p in A549 lung cancer cells compared with normal bronchial epithelial cell line. • We are the first to show the function of miR-490-3p in A549 lung cancer cells. • We demonstrate CCND1 may be one of the targets of miR-490-3p. - Abstract: MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate the translation of messenger RNAs by binding their 3′-untranslated region (3′UTR). In this study, we found that miR-490-3p is significantly down-regulated in A549 lung cancer cells compared with the normal bronchial epithelial cell line. To better characterize the role of miR-490-3p in A549 cells, we performed a gain-of-function analysis by transfecting the A549 cells with chemically synthesized miR-490-3P mimics. Overexpression of miR-490-3P evidently inhibits cell proliferation via G1-phase arrest. We also found that forced expression of miR-490-3P decreased both mRNA and protein levels of CCND1, which plays a key role in G1/S phase transition. In addition, the dual-luciferase reporter assays indicated that miR-490-3P directly targets CCND1 through binding its 3′UTR. These findings indicated miR-490-3P could be a potential suppressor of cellular proliferation

  13. Mechanisms and Kinetics of Radical Reaction of O(1D,3P) + HCN System

    HUANG Yu-Cheng; DU Jin-Yan; JU Xue-Hai; YE Shi-Yong; ZHOU Tao

    2008-01-01

    The reaction of HCN with O(1D, 3P) radical has been investigated by density functional theory (DFT) and ab initio methods. The stationary points on the reaction paths(reactants, intermediates and products) were optimized at the (U)B3LYP/aug-cc-pVTZ level.Single-point calculations were performed at the (U)QCISD(T)/aug-cc-pVTZ level for the optimized structures and all the total energies were corrected by zero-point energy. It is shown that there exist three competing mechanisms of oxygen attacking nitrogen O→N, oxygen attacking carbon O→C and oxygen attacking hydrogen O→H. The rate constants were obtained via Eyring transition-state theory in the temperature range of 600~2000 K. The linear relationship between lnk and 1/T was presented. The results show that path 1 is the main reaction channel and the product of NCO + H is predominant.

  14. High strength Al–Al2O3p composites: Optimization of extrusion parameters

    Luan, B.F.; Hansen, Niels; Godfrey, A.;

    2011-01-01

    Composite aluminium alloys reinforced with Al2O3p particles have been produced by squeeze casting followed by hot extrusion and a precipitation hardening treatment. Good mechanical properties can be achieved, and in this paper we describe an optimization of the key processing parameters. The...... investigation of their mechanical properties and microstructure, as well as on the surface quality of the extruded samples. The evaluation shows that material with good strength, though with limited ductility, can be reliably obtained using a production route of squeeze casting, followed by hot extrusion and a...... precipitation hardening treatment. For the extrusion step optimized processing parameters have been determined as: (i) extrusion temperature=500°C–560°C; (ii) extrusion rate=5mm/s; (iii) extrusion ratio=10:1....

  15. Spin structure of binary processes in the 3P0 model of coloured tube

    The binary processes 0+1/2 →0+1/2 (π-p → π0n, π-p → ηn) are considered in the coloured tube model. It is shown that the relations of residues of the amplitude M0+iσ-vectorn-vectorq/2q0M1 and their q2-dependence at the secondary Regge pole exchange is determined by the wave function of a gg-bar pair which appears in the 3P0 state at disruption of a coloured tube. The account of the Thomas interaction gives a small contribution into matrix elements logarithmically decreasing with energy. The model, accounting for absorption, agrees semiquantitatively with experimental data

  16. Product lambda-doublet ratios for the O(3P) + D2 reaction: A mechanistic imprint

    Jambrina, P G; Aldegunde, J; Brouard, M; Aoiz, F J

    2016-01-01

    In the last decade, the development of theoretical methods have allowed chemists to reproduce and explain almost all of the experimental data associated with elementary atom plus diatom collisions. However, there are still a few examples where theory cannot account yet for experimental results. This is the case for the preferential population of one of the $\\Lambda$-doublet states produced by chemical reactions. In particular, recent measurements of the OD($^2\\Pi$) product of the O($^3$P) + D$_2$ reaction have shown a clear preference for the $\\Pi(A')$ $\\Lambda$-doublet states, in apparent contradiction with {\\em ab initio} calculations, which predict a larger reactivity on the $A"$ potential energy surface. Here we present a method to calculate the $\\Lambda$-doublet ratio when concurrent potential energy surfaces participate in the reaction. It accounts for the experimental $\\Lambda$-doublet populations via explicit consideration of the stereodynamics of the process. Furthermore, our results demonstrate that...

  17. Lanthanide refractory semiconductors based on the Th/sub 3/P/sub 4/ structure

    The phase relationships and the important structural, electrical and thermal properties of the R/sub 3/X/sub 4/-R/sub 2/X/sub 3/ (where R = lanthanides and X = S, Se and Te) phases having the Th/sub 3/P/sub 4/-type structure are reviewed. The room temperature electrical resistivity and Seebeck coefficient of these materials are independent of R and only slightly dependent on X, but critically dependent on the X:R ratio. The long term stability of these phases is also reviewed. Although these materials have good thermoelectric properties there are some problems which need to be solved before these phases can be utilized in thermoelectric devices. These problems include long term stability, higher than desirable thermal conductivities, and low electron mobilities

  18. Precision Hyperfine Structure of 2;^3P State of ^3He with External Magnetic

    Wu, Qixue; Drake, G. W. F.

    2007-06-01

    The theory of the Zeeman effect can be used to extrapolate precise measurements for the fine structure or the hyperfine structure to zero-field strength. In the present work, the hyperfine structure of 2;^3P state of ^3He with external magnetic fields is precisely calculated. The values of the fields for 32 crossings and five anticrossings of the magnetic sublevels are theoretically predicted for magnetic field strengths up to 1 Tesla. The results are compared with experimental work. We include the linear terms, diamagnetic terms, and the 2̂ relativistic correction terms in the Zeeman Hamiltonian. All related matrix elements are calculated with high accuracy by the use of double basis set Hylleraas type variational wave functions[1,2].[1] Z. -C. Yan and G.W.F. Drake, Phys. Rev. A 50, R1980 (1994).[2] Q. Wu and G.W.F. Drake, J. Phys. B 40, 393 (2007).

  19. Electron impact excitation of 2p and 3p states of hydrogen at intermediate energies

    A coupled-channel-optical (CCO) calculation with 9 and 12 atomic states supplemented with the continuum optical potentials for the stronger coupling channels has been performed for the electron impact excitation of hydrogen. The calculated n = 2 and n = 3 differential cross sections and the reduced Stokes parameters are comparable with the state-of-the art calculations. There is closer agreement between the present calculations and the experimental measurements for the reduced Stokes parameters P-bar1 and P-bar3 in the n = 2p excitation at 54.4 eV. The present CCO calculations also display good accord with the limited experimental data for the reduced Stokes parameters in the n = 3p excitation. (authors)

  20. Expression of miR-199a-3p in human adipocytes is regulated by free fatty acids and adipokines.

    Gu, Nan; You, Lianghui; Shi, Chunmei; Yang, Lei; Pang, Lingxia; Cui, Xianwei; Ji, Chenbo; Zheng, Wen; Guo, Xirong

    2016-08-01

    Obesity is associated with a notable risk for disease, including risk of cardiovascular disorders, type 2 diabetes mellitus (T2DM) and hypertension. Adipose tissue modulates the metabolism by releasing free fatty acids (FFAs) and adipokines, including leptin, resistin, tumor necrosis factor-α (TNF-α) and interleukin 6 (IL‑6). Altered secretion patterns of FFAs and adipokines have been demonstrated to result in obesity‑associated insulin resistance (IR) and inflammatory responses. MicroRNA-199a-3p (miR)-199a-3p expression is significantly induced in differentiated human adipose-derived mesenchymal stem cells and indicates the association with T2DM. However, the association between miR-199a-3p levels in adipocytes and obesity‑associated IR, as well as inflammatory responses remains to be elucidated. The present study observed an elevation of miR‑199a‑3p expression level in mature human adipocytes (visceral) compared with pre-adipocytes. In addition, miR‑199a‑3p expression was higher in visceral adipose deposits from obese subjects. FFA, TNF-α, IL‑6 and leptin significantly induced miR‑199a‑3p expression in mature human adipocytes, while resistin had the opposite effect. miR‑199a‑3p may represent a factor in the modulation of obesity‑associated IR and inflammatory responses. PMID:27279151

  1. miR-224-3p inhibits autophagy in cervical cancer cells by targeting FIP200.

    Fang, Wang; Shu, Shan; Yongmei, Li; Endong, Zhu; Lirong, Yin; Bei, Sun

    2016-01-01

    Cervical cancer (CC) is a malignant solid tumor, which is one of the main causes of morbidity and mortality in women. Persistent High-risk human papillomavirus (hrHPV) infection is closely related to cervical cancer and autophagy has been suggested to inhibit viral infections. miRNAs have been reported to regulate autophagy in many solid tumors with many studies implicating miR-224-3p in the regulation of autophagy. In this study, we performed a miRNA microarray analysis on CC tissues and found that a large number of miRNAs with differential expressions in hrHPV-infected tissues. We identified miR-224-3p as a candidate miRNA selectively up regulated in HPV-infected tissues and cell lines. Further analysis revealed that miR-224-3p regulates autophagy in cervical cancer tissues and cell lines. While the overexpression of miR-224-3p inhibits autophagy in HPV-infected cells, knocking down endogenous miR-224-3p increases autophagy activity in the same cells. In addition, we found that miR-224-3p directly inhibits the expression of autophagy related gene, FAK family-interacting protein of 200 kDa (FIP200). In summary, we found that miR-224-3p regulates autophagy in hrHPV-induced cervical cancer cells through targeting FIP200 expression. PMID:27615604

  2. miR-208-3p promotes hepatocellular carcinoma cell proliferation and invasion through regulating ARID2 expression

    MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression at post-transcriptional level. miRNA dysregulation plays a causal role in cancer progression. In this study, miR-208-3p was highly expressed and directly repressed ARID2 expression. As a result, ARID2 expression in hepatocellular carcinoma (HCC) was decreased. In vitro, miR-208-3p down-regulation and ARID2 over-expression elicited similar inhibitory effects on HCC cell proliferation and invasion. In vivo test results revealed that miR-208-3p down-regulation inhibited HCC tumorigenesis in Hep3B cells. Moreover, ARID2 was possibly a downstream element of transforming growth factor beta1 (TGFβ1)/miR-208-3p/ARID2 regulatory pathway. These findings suggested that miR-208-3p up-regulation is associated with HCC cell progression and may provide a new target for liver cancer treatment. - Highlights: • miR-208-3p was highly expressed and directly repressed the expression of ARID2 in HCC. • miR-208-3p contributed to HCC cell progression both in vitro and in vivo. • Over-expression of ARID2 inhibited the HCC cell proliferation and invasion. • Restoration of ARID2 partly reversed the the effect of miR-208-3p down-regulation on HCC cells. • Newly regulatory pathway: miR-208-3p mediated the repression of ARID2 by TGFβ1 in HCC cells

  3. MicroRNA-23a-3p promotes the development of osteoarthritis by directly targeting SMAD3 in chondrocytes.

    Kang, Liang; Yang, Cao; Song, Yu; Liu, Wei; Wang, Kun; Li, Shuai; Zhang, Yukun

    2016-09-01

    Osteoarthritis (OA) is a common chronic degenerative joint disease. Progressive destruction of the integrity of articular cartilage is an important pathological feature, but treatment options that reverse this damage have not been developed. According to recent studies, microRNAs have important regulatory roles in the initiation and progression of OA. In the current study, the biological effects of miR-23a-3p and its expression in OA tissues were examined. We found that miR-23a-3p expression was obviously higher and SMAD3 expression was significantly lower in OA cartilage than in normal tissues. The hypomethylation status of CpG islands in the promoter region of miR-23a-3p was confirmed by methylation-specific polymerase chain reaction in OA cartilage tissues. Furthermore, a bioinformatics analysis and luciferase reporter assay identified SMAD3 as a target gene of miR-23a-3p and SMAD3 expression at both the protein and mRNA levels was inhibited by miR-23a-3p. A functional analysis demonstrated that miR-23a-3p overexpression suppresses type II collagen and aggrecan expression, while miR-23a-3p inhibition had the opposite effects. Small interfering RNA-mediated knockdown of SMAD3 reversed the effects of the miR-23a-3p inhibitor on the expression of type II collagen and aggrecan. Our results suggested that miR-23a-3p contributes to OA progression by directly targeting SMAD3, providing a potential therapeutic target for OA treatment. PMID:27318087

  4. miR-208-3p promotes hepatocellular carcinoma cell proliferation and invasion through regulating ARID2 expression

    Yu, Peng; Wu, Dingguo; You, Yu; Sun, Jing; Lu, Lele; Tan, Jiaxing; Bie, Ping, E-mail: bieping2010@163.com

    2015-08-15

    MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression at post-transcriptional level. miRNA dysregulation plays a causal role in cancer progression. In this study, miR-208-3p was highly expressed and directly repressed ARID2 expression. As a result, ARID2 expression in hepatocellular carcinoma (HCC) was decreased. In vitro, miR-208-3p down-regulation and ARID2 over-expression elicited similar inhibitory effects on HCC cell proliferation and invasion. In vivo test results revealed that miR-208-3p down-regulation inhibited HCC tumorigenesis in Hep3B cells. Moreover, ARID2 was possibly a downstream element of transforming growth factor beta1 (TGFβ1)/miR-208-3p/ARID2 regulatory pathway. These findings suggested that miR-208-3p up-regulation is associated with HCC cell progression and may provide a new target for liver cancer treatment. - Highlights: • miR-208-3p was highly expressed and directly repressed the expression of ARID2 in HCC. • miR-208-3p contributed to HCC cell progression both in vitro and in vivo. • Over-expression of ARID2 inhibited the HCC cell proliferation and invasion. • Restoration of ARID2 partly reversed the the effect of miR-208-3p down-regulation on HCC cells. • Newly regulatory pathway: miR-208-3p mediated the repression of ARID2 by TGFβ1 in HCC cells.

  5. Genomic characterization of uncommon human G3P[6] rotavirus strains causing diarrhea in children in Italy in 2009.

    Ianiro, Giovanni; Delogu, Roberto; Fiore, Lucia; Ruggeri, Franco M

    2015-07-01

    Group A rotaviruses (RVA) are the leading cause of acute gastroenteritis in young children, causing up to 450,000 deaths worldwide, mostly in developing countries. Most of RVA human infections in developed countries are related to five major G/P combinations: G1P[8], G2P[4], G3P[8], G4P[8] and G9P[8]. During the surveillance activity of RotaNet-Italy, three uncommon G3P[6] RVA strains, designated as RVA/Human-wt/ITA/NA01/2009/G3P[6], RVA/Human-wt/ITA/NA06/2009/G3P[6], and RVA/Human-wt/ITA/NA19/2009/G3P[6], were identified in the stools of children with diarrhea hospitalized in Southern Italy in 2009. Samples NA01, NA06 and NA19 were characterized as genotype G3P[6]. To investigate the three strains further, partial sequencing of the eleven genomic segments was performed. RVA strains NA01, NA06 and NA19 were found to share the rare genotype constellation: G3-P[6]-I2-R2-C2-M2-A2-N2-T2-E2-H2, which had not been reported previously in continental Italy. The phylogenetic analysis of the eleven genomic segments showed no evidence of zoonosis or inter-species reassortment at the origin of the Italian G3P[6] strains, indicating that they possessed DS-1-like genomic constellations similar to those detected previously in human cases in Africa and Europe. The analysis of the hypervariable regions of VP7 and VP4 (VP8*) revealed high amino acid identity between the Italian G3P[6] RVA strains involved in this study. PMID:25913157

  6. Wakefield Computations for the CLIC PETS using the Parallel Finite Element Time-Domain Code T3P

    Candel, A; Kabel, A.; Lee, L.; Li, Z.; Ng, C.; Schussman, G.; Ko, K.; /SLAC; Syratchev, I.; /CERN

    2009-06-19

    In recent years, SLAC's Advanced Computations Department (ACD) has developed the high-performance parallel 3D electromagnetic time-domain code, T3P, for simulations of wakefields and transients in complex accelerator structures. T3P is based on advanced higher-order Finite Element methods on unstructured grids with quadratic surface approximation. Optimized for large-scale parallel processing on leadership supercomputing facilities, T3P allows simulations of realistic 3D structures with unprecedented accuracy, aiding the design of the next generation of accelerator facilities. Applications to the Compact Linear Collider (CLIC) Power Extraction and Transfer Structure (PETS) are presented.

  7. Hyperfine Quenching of the $4s4p ^{3}P_{0}$ Level in Zn-like Ions

    Marques, J P; Indelicato, Paul

    2007-01-01

    In this paper, we used the multiconfiguration Dirac-Fock method to compute with high precision the influence of the hyperfine interaction on the $[Ar]3d^{10} 4s4p ^3P_0$ level lifetime in Zn-like ions for stable and some quasi-stable isotopes of nonzero nuclear spin between Z=30 and Z=92. The influence of this interaction on the $[Ar]3d^{10} 4s4p ^3P_1 - [Ar]3d^{10} 4s4p ^3P_0$ separation energy is also calculated for the same ions.

  8. Energy-band alignment of II-VI/Zn3P2 heterojunctions from x-ray photoemission spectroscopy

    Watson, Graeme

    2013-01-01

    PUBLISHED The energy-band alignments for zb-ZnSe(001)/ a -Zn 3 P 2 (001), w-CdS(0001)/ a -Zn 3 P 2 (001), and w-ZnO(0001)/ a -Zn 3 P 2 (001) heterojunctions have been determined using high-resolution x-ray photoelectron spectroscopy via the Kraut method. Ab initio hybrid density functional theory calculations of the valence-band density of states were used to determine the energy differences between the core level and ...

  9. (2p2)3P state of H- and the convergence of the CI series

    A sequence of increasingly accurate configuration interaction (CI) wave functions is used to discuss binding and the convergence of the CI series for the (2p2)3P state of H-. We get an upper bound energy E/sub u/=-0.1 253 547 166 a.u.(H), the lowest yet obtained, lying within an estimated 0.4 μhartree from the exact eigenvalue of Schroedinger's nonrelativistic equation. The angular energy limits define angular energy increments ΔE/sub l/ which follows the formula ΔE/sub l/approx. =0.18 (l+1/2)-7a.u. for l> or =4. Five or eighty per cent of binding is obtained with a three-term Psi=c1(2p)2+c2(2p')2+c3 (3d)2 depending on whether the 2p,2p', and 3d orbitals are energy optimized STO's or accurate natural orbitals, respectively

  10. Half-quantized Non-Abelian Vortices in Neutron $^3P_2$ Superfluids inside Magnetars

    Masuda, Kota

    2016-01-01

    We point out that half-quantized non-Abelian vortices exist as the minimum energy states in rotating neutron $^3P_2$ superfluids in the inner cores of magnetars with magnetic field greater than $3 \\times 10^{15}$ Gauss, while they do not in ordinary neutron stars with smaller magnetic fields. One integer vortex is split into two half-quantized vortices. The number of vortices is about $10^{19}$ and they are separated at about $\\mu$m in a vortex lattice for typical parameters, while the vortex core size is about 10-100 fm. They are non-Abelian vortices characterized by non-Abelian first homotopy group, and consequently when two vortices corresponding to non-commutative elements collide, a rung vortex must be created between them, implying the formation of an entangled vortex network inside the cores of magnetars. We find the spontaneous magnetization in the vortex core showing anti-ferromagnetism whose typical magnitude is about $10^{8-9}$ Gauss that is ten times larger than that of integer vortices, when exte...

  11. ACE3P Computations of Wakefield Coupling in the CLIC Two-Beam Accelerator

    Candel, Arno; Li, Z.; Ng, C.; Rawat, V.; Schussman, G.; Ko, K.; /SLAC; Syratchev, I.; Grudiev, A.; Wuensch, W.; /CERN

    2010-10-27

    The Compact Linear Collider (CLIC) provides a path to a multi-TeV accelerator to explore the energy frontier of High Energy Physics. Its novel two-beam accelerator concept envisions rf power transfer to the accelerating structures from a separate high-current decelerator beam line consisting of power extraction and transfer structures (PETS). It is critical to numerically verify the fundamental and higher-order mode properties in and between the two beam lines with high accuracy and confidence. To solve these large-scale problems, SLAC's parallel finite element electromagnetic code suite ACE3P is employed. Using curvilinear conformal meshes and higher-order finite element vector basis functions, unprecedented accuracy and computational efficiency are achieved, enabling high-fidelity modeling of complex detuned structures such as the CLIC TD24 accelerating structure. In this paper, time-domain simulations of wakefield coupling effects in the combined system of PETS and the TD24 structures are presented. The results will help to identify potential issues and provide new insights on the design, leading to further improvements on the novel CLIC two-beam accelerator scheme.

  12. Join the CERN ISEF special award winners | 16 June - 3 p.m.

    2016-01-01

    Come and join the CERN ISEF special award winners at their lightning talks session on 16 June at 3.00 p.m. in the main auditorium.   The 2016 Intel ISEF CERN special award winners on stage with the selection committee on 17 May 2016 in Phoenix, Arizona, USA. (Picture: Society for Science and the Public) Between 11 and 17 June 2016, the ten finalists of the Intel International Science and Engineering Fair (ISEF) who won the CERN Special Award, will visit CERN to partake in various educational lectures. ISEF is the world's largest international pre-college science competition, with approximately 1,700 high school students from more than 75 countries taking part. They will present their projects in short 5 minutes lightning talks' sessions at the main auditorium on Thursday 16 June at 3 p.m. The award winners would be also very happy to have a chance to interact and discuss with you af...

  13. Precision frequency measurement of 1S0–3P1 intercombination lines of Sr isotopes

    We report on frequency measurement of the intercombination (5s2)1S0–(5s5p)3P1 transition of the four natural isotopes of strontium, including 88Sr (82.58%), 87Sr (7.0%), 86Sr (9.86%), and 84Sr (0.56%). A narrow-linewidth laser that is locked to an ultra-low expansion (ULE) optical cavity with a finesse of 12000 is evaluated at a linewidth of 200 Hz with a fractional frequency drift of 2.8×10−13 at an integration time of 1 s. The fluorescence collector and detector are specially designed, based on a thermal atomic beam. Using a double-pass acousto-optic modulator (AOM) combined with a fiber and laser power stabilization configuration to detune the laser frequency enables high signal-to-noise ratios and precision saturated spectra to be obtained for the six transition lines, which allows us to determine the transition frequency precisely. The optical frequency is measured using an optical frequency synthesizer referenced to an H maser. Both the statistical values and the final values, including the corrections and uncertainties, are derived for a comparison with the values given in other works. (paper)

  14. Utilising the `3P-model' to Characterise the Discipline of Didactics of Science

    Adúriz-Bravo, Agustín; Izquierdo-Aymerich, Mercè

    In our research within didactics of science, we have been exploring contributions of the so called cognitive models from contemporary philosophy of science. We have used these philosophical frameworks on different levels. As an outcome, we have formulated a model of didactics of science according to which this discipline adapts and transforms theoretical contributions from different scholarly fields. In this paper, we concentrate on this description of didactics of science, which we have called the 3P-model (i.e., philosophy + psychology + pedagogy). This model of the internal functioning of the discipline may be useful to make innovations in science curriculum design and re-conceptualise the role of science teachers as professionals. We see didactics of science as a set of interrelated activities, performed by different individuals, and ranging from theoretical production to practice of science education at school. We find the concept of technoscience suitable to account for this diversity of goals. According to this concept, scientific disciplines are identified both with generation of knowledge and with active intervention on the world. Within current didactics of science, we recognise several kinds of research, having goals more or less directed to practical intervention in science education.

  15. Prm3p Is a Pheromone-induced Peripheral Nuclear Envelope Protein Required for Yeast Nuclear Fusion

    Shen, Shu; Tobery, Cynthia E.; Rose, Mark D.

    2009-01-01

    Nuclear membrane fusion is the last step in the mating pathway of the yeast Saccharomyces cerevisiae. We adapted a bioinformatics approach to identify putative pheromone-induced membrane proteins potentially required for nuclear membrane fusion. One protein, Prm3p, was found to be required for nuclear membrane fusion; disruption of PRM3 caused a strong bilateral defect, in which nuclear congression was completed but fusion did not occur. Prm3p was localized to the nuclear envelope in pheromon...

  16. Electron impact excitation out of the metastable levels of argon into the 3p54p J = 3 level

    We have measured the direct cross section for electron impact excitation out of the metastable 3p54s[3/2]20 level (1s5 in Paschen's notation) into the 3p54p[5/2]3 level (2p9) of argon from threshold to 800 eV. The direct cross section is 40 x 10-16 cm2 at 10 eV. (author)

  17. MicroRNA-124-3p regulates cell proliferation, invasion, apoptosis, and bioenergetics by targeting PIM1 in astrocytoma.

    Deng, Danni; Wang, Lei; Chen, Yao; Li, Bowen; Xue, Lian; Shao, Naiyuan; Wang, Qiang; Xia, Xiwei; Yang, Yilin; Zhi, Feng

    2016-07-01

    The PIM1 protein is an important regulator of cell proliferation, the cell cycle, apoptosis, and metabolism in various human cancers. MicroRNAs (miRNAs) are powerful post-transcriptional gene regulators that function through translational repression or transcript destabilization. Therefore, we aimed to identify whether a close relationship exists between PIM1 and miRNAs. PIM1 protein levels and mRNA levels were significantly upregulated in astrocytoma tissues, indicating the oncogenic role of PIM1 in astrocytoma. Further bioinformatics analysis indicated that miR-124-3p targeted the 3'-UTR of PIM1. We also observed an inverse correlation between the miR-124-3p levels and PIM1 protein or mRNA levels in astrocytoma samples. Next, we experimentally confirmed that miR-124-3p directly recognizes the 3'-UTR of the PIM1 transcript and regulates PIM1 expression at both the protein and mRNA levels. Furthermore, we examined the biological consequences of miR-124-3p targeting PIM1 in vitro. We showed that the repression of PIM1 in astrocytoma cancer cells by miR-124-3p suppressed proliferation, invasion, and aerobic glycolysis and promoted apoptosis. We observed that the restoration or inhibition of PIM1 activity resulted in effects that were similar to those induced by miR-124-3p inhibitors or mimics in cancer cells. Finally, overexpression of PIM1 rescued the inhibitory effects of miR-124-3p. In summary, these findings aid in understanding the tumor-suppressive role of miR-124-3p in astrocytoma pathogenesis through the inhibition of PIM1 translation. PMID:27088547

  18. miR-193a-3p regulation of chemoradiation resistance in oesophageal cancer cells via the PSEN1 gene.

    Meng, Fang; Qian, Liting; Lv, Lei; Ding, Bojin; Zhou, Gieping; Cheng, Xu; Niu, Sanqiang; Liang, Yu

    2016-04-01

    Chemoradiation therapy is an important component of the curative treatment for oesophageal carcinomas. These therapeutic effects are prevented in patients according to radioresistance and multi-drug resistance, and the cause of such resistance remains unclear. In this study, we identified the role of miR-193a-3p in modulating the radioresistance and chemoresistance of oesophageal cancer cells. We found that KYSE150 and KYSE410 cells could be characterized as relatively radiation-sensitive and radiation-resistant cells, respectively. Similarly, KYSE150 and KYSE410 cells were found to be chemosensitive and chemoresistant, respectively. Over-expression of miR-193a-3p increased the radioresistance and chemoresistance of oesophageal squamous cell carcinoma (ESCC) cells. In contrast, the down-regulation of miR-193a-3p decreased the radioresistance and chemoresistance of ESCC cells. In addition, miR-193a-3p inducing DNA damage has also been demonstrated through measuring the level of gamma-H2AX associated with miR-193a-3p. Moreover, a small interfering RNA(siRNA)-induced repression of the PSEN1 gene had an effect similar to that of miR-193a-3p up-regulation. The above processes also inhibited oesophageal cancer cells apoptosis. These findings suggest that miR-193a-3p contributes to the radiation and chemotherapy resistance of oesophageal carcinoma by down-regulating PSEN1. Thus, miR-193a-3p and PSEN1 might be potential biomarkers for chemoradiation resistant cancers. PMID:26743123

  19. Novel Mad2-targeting miR-493-3p controls mitotic fidelity and cancer cells' sensitivity to paclitaxel.

    Tambe, Mahesh; Pruikkonen, Sofia; Mäki-Jouppila, Jenni; Chen, Ping; Elgaaen, Bente Vilming; Straume, Anne Hege; Huhtinen, Kaisa; Cárpen, Olli; Lønning, Per Eystein; Davidson, Ben; Hautaniemi, Sampsa; Kallio, Marko J

    2016-03-15

    The molecular pathways that contribute to the proliferation and drug response of cancer cells are highly complex and currently insufficiently characterized. We have identified a previously unknown microRNA-based mechanism that provides cancer cells means to stimulate tumorigenesis via increased genomic instability and, at the same time, evade the action of clinically utilized microtubule drugs. We demonstrate miR-493-3p to be a novel negative regulator of mitotic arrest deficient-2 (MAD2), an essential component of the spindle assembly checkpoint that monitors the fidelity of chromosome segregation. The microRNA targets the 3' UTR of Mad2 mRNA thereby preventing translation of the Mad2 protein. In cancer cells, overexpression of miR-493-3p induced a premature mitotic exit that led to increased frequency of aneuploidy and cellular senescence in the progeny cells. Importantly, excess of the miR-493-3p conferred resistance of cancer cells to microtubule drugs. In human neoplasms, miR-493-3p and Mad2 expression alterations correlated with advanced ovarian cancer forms and high miR-493-3p levels were associated with reduced survival of ovarian and breast cancer patients with aggressive tumors, especially in the paclitaxel therapy arm. Our results suggest that intratumoral profiling of miR-493-3p and Mad2 levels can have diagnostic value in predicting the efficacy of taxane chemotherapy. PMID:26943585

  20. Integrated multi-omics analyses reveal the pleiotropic nature of the control of gene expression by Puf3p.

    Kershaw, Christopher J; Costello, Joseph L; Talavera, David; Rowe, William; Castelli, Lydia M; Sims, Paul F G; Grant, Christopher M; Ashe, Mark P; Hubbard, Simon J; Pavitt, Graham D

    2015-01-01

    The PUF family of RNA-binding proteins regulate gene expression post-transcriptionally. Saccharomyces cerevisiae Puf3p is characterised as binding nuclear-encoded mRNAs specifying mitochondrial proteins. Extensive studies of its regulation of COX17 demonstrate its role in mRNA decay. Using integrated genome-wide approaches we define an expanded set of Puf3p target mRNAs and quantitatively assessed the global impact of loss of PUF3 on gene expression using mRNA and polysome profiling and quantitative proteomics. In agreement with prior studies, our sequencing of affinity-purified Puf3-TAP associated mRNAs (RIP-seq) identified mRNAs encoding mitochondrially-targeted proteins. Additionally, we also found 720 new mRNA targets that predominantly encode proteins that enter the nucleus. Comparing transcript levels in wild-type and puf3∆ cells revealed that only a small fraction of mRNA levels alter, suggesting Puf3p determines mRNA stability for only a limited subset of its target mRNAs. Finally, proteomic and translatomic studies suggest that loss of Puf3p has widespread, but modest, impact on mRNA translation. Taken together our integrated multi-omics data point to multiple classes of Puf3p targets, which display coherent post-transcriptional regulatory properties and suggest Puf3p plays a broad, but nuanced, role in the fine-tuning of gene expression. PMID:26493364

  1. Up- regulation of miR-328-3p sensitizes non-small cell lung cancer to radiotherapy.

    Ma, Wei; Ma, Chao-Nan; Zhou, Nan-Nan; Li, Xian-Dong; Zhang, Yi-Jie

    2016-01-01

    MicroRNAs (miRNAs) are believed to be resistant against radiotherapy in certain types of cancers. The aim of our study was to determine the clinical application of miRNAs in non-small cell lung cancer (NSCLC). Sixty NSCLC tissue samples and adjacent histologically normal tissues were obtained for miRNAs microarray analysis and validated by RT-qPCR. Correlation between miRNA expression level and clinicopathological features was evaluated. Our study examined the influence of changed miRNA expression on the damaged DNA and its associated radio sensitivity. Luciferase assay was performed to determine potential effects on the targeted gene. Our study identified fifteen altered miRNAs in which miR-328-3p was down regulated in NSCLC tumour tissue as compared to normal tissues. Down-expression of miR-328-3p was positively associated with an enhanced lymph node metastasis, advanced clinical stage and a shortened survival rate. miR-328-3p expression was decreased in A549 cells compared to other NSCLC cell lines. Up-regulation of miR-328-3p demonstrated a survival inhibition effect in A549 and restored NSCLC cells' sensitivity to radio therapy. An increased miR-328-3p expression promoted irradiation-induced DNA damage in cells. γ-H2AX was identified as the direct target of miR-328-3p. Over-expressed miR-328-3p can improve the radiosensitvity of cells by altering the DNA damage/repair signalling pathways in NSCLC. PMID:27530148

  2. Colloidal CdSe/Cu3P/CdSe nanocrystal heterostructures and their evolution upon thermal annealing.

    De Trizio, Luca; De Donato, Francesco; Casu, Alberto; Genovese, Alessandro; Falqui, Andrea; Povia, Mauro; Manna, Liberato

    2013-05-28

    We report the synthesis of colloidal CdSe/Cu(3)P/CdSe nanocrystal heterostructures grown from hexagonal Cu(3)P platelets as templates. One type of heterostructure was a sort of "coral", formed by vertical pillars of CdSe grown preferentially on both basal facets of a Cu(3)P platelet and at its edges. Another type of heterostructure had a "sandwich" type of architecture, formed by two thick, epitaxial CdSe layers encasing the original Cu(3)P platelet. When the sandwiches were annealed under vacuum up to 450 °C, sublimation of P and Cd species with concomitant interdiffusion of Cu and Se species was observed by in situ HR- and EFTEM analyses. These processes transformed the starting sandwiches into Cu2Se nanoplatelets. Under the same conditions, both the pristine (uncoated) Cu(3)P platelets and a control sample made of isolated CdSe nanocrystals were stable. Therefore, the thermal instability of the sandwiches under vacuum might be explained by the diffusion of Cu species from Cu(3)P cores into CdSe domains, which triggered sublimation of Cd, as well as out-diffusion of P species and their partial sublimation, together with the overall transformation of the sandwiches into Cu(2)Se nanocrystals. A similar fate was followed by the coral-like structures. These CdSe/Cu(3)P/CdSe nanocrystals are therefore an example of a nanostructure that is thermally unstable, despite its separate components showing to be stable under the same conditions. PMID:23557168

  3. The state dependence of the interaction of metastable rare gas atoms Rg sup * (ms sup 3 P sub 2 , sup 3 P sub 0 ) (Rg=Ne, Ar, Kr, Xe) with ground state sodium atoms

    Schohl, S.; Mueller, M.W.; Meijer, H.A.J.; Ruf, M.W.; Hotop, H. (Kaiserslautern Univ. (Germany, F.R.). Fachbereich Physik); Morgner, H. (Witten-Herdecke Univ., Witten (Germany, F.R.). Inst. fuer Experimentalphysik)

    1990-08-01

    Using crossed beams of metastable rare gas atoms Rg{sup *}(ms {sup 3}P{sub 2}, {sup 3}P{sub 0}) (Rg=Ne, Ar, Kr, Xe) and ground state sodium atoms Na(3s {sup 2}S{sub 1/2}), we have measured the energy spectra of electrons released in the respective Penning ionization processes at thermal collision energies. For Rg{sup *}({sup 3}P{sub 2})+Na(3s), the spectra are quite similar for the different rare gases, both in width and shape; they reflect attractive interactions in the entrance channel with well depths D{sub e}{sup *} (meV) decreasing slowly from Rg=Ne to Xe as follows: 676(18); 602(23); 565(26); 555(30). For Rg{sup *}({sup 3}P{sub 0})+Na(3 s), the spectra vary strongly with the rare gas, indicating a change in the character of the interaction from van der Waals type attraction (Ne) to chemical binding for Kr and Xe with well depths D{sub e}{sup *} (meV) of: 51(19); 107(25); 432(30); 530(50). These findings are explained through model calculations of the respective potential curves, in which the exchange and the spin orbit interaction in the excited rare gas and the molecular interaction between the two valence s-electrons in terms of suitably chosen singlet and triplet potentials are taken into account. These calculations also explain qualitatively the experimental finding that the ratios q{sub 2}/q{sub 0} of the ionization cross sections for Rg{sup *}({sup 3}P{sub 2})+Na and Rg{sup *}({sup 3}P{sub 0})+Na vary strongly with the rare gas from Ne to Xe as follows: 15.8(3.2); 2.6(4); 1.4(2); 1.6(4). (orig.).

  4. Soft-mode enhanced superconductivity in the antiperovskite APt{sub 3}P, A=Sr, Ca, La

    Heid, Rolf; Bohnen, Klaus-Peter [Institut fuer Festkoerperphysik, Karlsruher Institut fuer Technologie (Germany)

    2013-07-01

    The surprising discovery of superconductivity in iron pnictides initiated an increased search for superconductivity in other unconventional compounds. Recently, a new class of P-based antiperovskites was synthesized, and superconductivity with a T{sub c} of 8.4 K was observed for SrPt{sub 3}P. Specific heat measurements indicated a strong-coupling scenario and the presence of low-energy phonon modes. Replacing Sr by Ca or La resulted in lower T{sub c}'s and a progressive loss of strong-coupling signatures. Here we present results of a first principles study of lattice dynamics and electron-phonon coupling properties of APt{sub 3}P, A=Sr,Ca,La, with full consideration of spin-orbit interaction. For SrPt{sub 3}P, the coupling is carried almost totally by a single low-frequency branch consisting of planar Pt vibrations, which result in a coupling constant of λ∼2. In CaPt{sub 3}P this mode stiffens significantly thereby reducing λ to about 1, while in LaPt{sub 3}P the coupling is further reduced to 0.5 because of a shift of the electronic bands. In contrast to previous work, our ab initio results provide a consistent quantitative description of the key features of superconductivity in this new class of materials within the framework of the strong-coupling Eliashberg theory.

  5. Physico-chemical studies of MgNa3P3O10·12H2O

    Fahim I.

    2013-09-01

    Full Text Available A magnesium-sodium triphosphate MgNa3P3O10·12H2O already known has been prepared by the method of ion exchange resin of aqueous chemistry and studied by X-Ray diffraction, thermal analyses (TGA-DTA, differential scanning calorimetry (DSC and infrared spectrometry which show the characteristic bands of a triphosphate P3O. The results of differential thermal analysis, X-Ray powder diffraction and IR spectra of the compound heated at different temperatures showed that, after dehydration, MgNa3P3O10·12H2O decomposes into an amorphous compound, then it crystallizes at 600 ° C in order to give the anhydrous triphosphate MgNa3P3O10. MgNa3P3O10 is stable until its melting point at 612 ° C. Two different methods Ozawa and KAS have been selected in studying the kinetics of thermal behavior of the triphosphate P3O10 for the first time. The kinetic and thermodynamic characteristics of the dehydration of MgNa3P3O10·12H2O and the thermal phenomena accompanying this dehydration were determinated and discussed on the basis of the proposed crystalline structure.

  6. MicroRNA-29a-3p attenuates ET-1-induced hypertrophic responses in H9c2 cardiomyocytes.

    Li, Man; Wang, Nan; Zhang, Jian; He, Hong-Peng; Gong, Hui-Qin; Zhang, Rui; Song, Tie-Feng; Zhang, Li-Nan; Guo, Zhi-Xia; Cao, Dong-Sun; Zhang, Tong-Cun

    2016-07-01

    Transcription factor nuclear factor of activated T cells c4 (NFATc4) is the best-characterized target for the development of cardiac hypertrophy. Aberrant microRNA-29 (miR-29) expression is involved in the development of cardiac fibrosis and congestive heart failure. However, whether miR-29 regulates hypertrophic processes is still not clear. In this study, we investigated the potential functions of miR-29a-3p in endothelin-1 (ET-1)-induced cardiomyocyte hypertrophy. We showed that miR-29a-3p was down-regulated in ET-1-treated H9c2 cardiomyocytes. Overexpression of miR-29a-3p significantly reduced ET-1-induced hypertrophic responses in H9c2 cardiomyocytes, which was accompanied by a decrease in NFATc4 expression. miR-29a-3p targeted directly to the 3'-UTR of NFATc4 mRNA and silenced NFATc4 expression. Our results indicate that miR-29a-3p inhibits ET-1-induced cardiomyocyte hypertrophy via inhibiting NFATc4 expression. PMID:26992639

  7. Development of a chromosomally integrated metabolite-inducible Leu3p-alpha-IPM "off-on" gene switch.

    Maria Poulou

    Full Text Available BACKGROUND: Present technology uses mostly chimeric proteins as regulators and hormones or antibiotics as signals to induce spatial and temporal gene expression. METHODOLOGY/PRINCIPAL FINDINGS: Here, we show that a chromosomally integrated yeast 'Leu3p-alpha-IotaRhoMu' system constitutes a ligand-inducible regulatory "off-on" genetic switch with an extensively dynamic action area. We find that Leu3p acts as an active transcriptional repressor in the absence and as an activator in the presence of alpha-isopropylmalate (alpha-IotaRhoMu in primary fibroblasts isolated from double transgenic mouse embryos bearing ubiquitously expressing Leu3p and a Leu3p regulated GFP reporter. In the absence of the branched amino acid biosynthetic pathway in animals, metabolically stable alpha-IPM presents an EC(50 equal to 0.8837 mM and fast "OFF-ON" kinetics (t(50ON = 43 min, t(50OFF = 2.18 h, it enters the cells via passive diffusion, while it is non-toxic to mammalian cells and to fertilized mouse eggs cultured ex vivo. CONCLUSIONS/SIGNIFICANCE: Our results demonstrate that the 'Leu3p-alpha-IotaRhoMu' constitutes a simpler and safer system for inducible gene expression in biomedical applications.

  8. Reactions of N+ (3P) ions with H2 and HD molecules at low temperatures

    Grozdanov, Tasko P.; McCarroll, Ronald; Roueff, Evelyne

    2016-04-01

    formation of ND+. The calculated value is consistent with the available experimental data. Conclusions: The present results allow for the determination of reaction rate coefficients for any given distribution of specific fine structure and rotational state populations of the reactants. In interstellar conditions, where N+ is in its 3P0 state and para- and ortho-H2 respectively in J = 0 and J = 1. Our results enable a study of the influence of the ortho/para evolution of molecular hydrogen on the formation of nitrogen compounds.

  9. Regulatory role of the sequences downstream from nodD3 P1 promoter of Rhizobium meliloti

    2000-01-01

    The 660 bp region between nodD3 P1 promoter and the following coding region of Rhizobium meliloti has been studied.This region is designated "downstream sequences".It consists of two potential open reading frames,ORF1 and ORF2.Studies on the role of the downstream sequences on the activity of nodD3 P1 with nod D3(P1)-lacZ fusion show that deletion of the sequences containing ORF2 causes the increase of the activity of the fusion; on the contrary,addition of extra copies of ORF2 markedly decreases the activity of the fusion.These results indicate that the product of ORF2 plays a negative role in the expression of nod D3.

  10. Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p.

    Pearce, D A; Nosel, S A; Sherman, F

    1999-04-01

    Although the gene responsible for Batten disease, CLN3, was positionally cloned in 1995, the function of Cln3p and the molecular basis of the disease still remain elusive. We previously reported that the yeast Saccharomyces cerevisiae contains a homolog to Cln3p, designated Btn1p, and that the human Cln3p complemented the pH-dependent resistance to D-(-)-threo-2-amino-1-[p-nitrophenyl]-1, 3-propanediol in btn1-Delta yeast mutants. We have determined that yeast lacking Btn1p have an elevated ability to acidify media during growth that correlates with an elevated plasma membrane ATPase activity. Btn1p may be involved in maintaining pH homeostasis of yeast cells. PMID:10191121