machado-joseph disease mutation: Topics by WorldWideScience.org

KMeyeDB: a graphical database of mutations in genes that cause eye diseases

Hypophosphatasia is a congenital disease characterized by deficiency of serum and tissue non-specific alkaline phosphatase activity. The disease occurs due to mutations in the liver/bone/kidney alkaline...Full Text Available

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British Library Electronic Table of Contents (United Kingdom)

KMeyeDB () is a database of human gene mutations that cause eye diseases. We have substantially enriched the amount of data in the database, which now contains information about the mutations of 167 human genes causing eye-related diseases including retinitis pigmentosa, cone-rod dystrophy, night blindness, Oguchi disease, Stargardt disease, macular degeneration, Leber congenital amaurosis, corneal dystrophy, cataract, glaucoma, retinoblastoma, Bardet-Biedl syndrome, and Usher syndrome. KMeyeDB is operated using the database software MutationView, which deals with various characters of mutations, gene structure, protein functional domains, and polymerase chain reaction (PCR) primers, as well as clinical data for each case. Users can access the database using an ordinary Internet browser wi...

2010-01-01

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X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis.

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

1993-09-01

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A neurodegenerative disease mutation that accelerates the clearance of apoptotic cells

Fast and efficient high-throughput techniques are essential for the molecular diagnosis of highly heterogeneous hereditary diseases, such as retinitis pigmentosa (RP). We had previously approached RP...Full Text Available

2010-01-01

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Cis-regulatory mutations in human disease

Frontotemporal lobar degeneration is a progressive neurodegenerative syndrome that is the second most common cause of early-onset dementia. Mutations in the progranulin gene are a major cause of familial...Full Text Available

2011-03-15

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Technical approaches for mouse models of human disease

Cis-acting regulatory sequences are required for the proper temporal and spatial control of gene expression. Variation in gene expression is highly heritable and a significant determinant...Full Text Available

2009-07-01

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Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies

The mouse is the leading organism for disease research. A rich resource of genetic variation occurs naturally in inbred and special strains owing to spontaneous mutations. However, one can also obtain...Full Text Available

2011-05-01

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Apolipoprotein E-Mimetics Inhibit Neurodegeneration and Restore Cognitive Functions in a Transgenic Drosophila Model of Alzheimer's Disease

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter super-family (ABCA4) have been associated with a diverse group of human retinal diseases....Full Text Available

2010-10-01

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Mapping of the human cone transducin {alpha}-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease

BackgroundMutations of the amyloid precursor protein gene (APP) are found in familial forms of Alzheimer's disease (AD) and some lead to the elevated production...Full Text Available

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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA

We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease. 19 refs., 1 fig., 1 tab.

1995-01-01

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Genetic heterogeneity in type 1 Gaucher disease: Multiple genotypes in Ashkenazic and non-Ashkenazic individuals

The Lesch-Nyhan (LN) syndrome is a severe X chromosome-linked disease that results from a deficiency of the purine salvage enzyme hypoxanthine phosphoribosyltransferase (HPRT). The mutations leading to the disease are heterogeneous and frequently arise as de novo events. The authors have identified nucleotide alterations in 15 independently arising HPRT-deficiency cases by direct DNA sequencing of in vitro amplified HPRT cDNA. They also demonstrate that the direct DNA sequence analysis can be automated, further simplifying the detection of new mutations at this locus. The mutations include DNA base substitutions, small DNA deletions, a single DNA base insertion, and errors in RNA splicing. The application of these procedures allows DNA diagnosis and carrier identification by the direct detection of the mutant alleles within individual families affected by LN.

1989-03-01

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aHUS caused by complement dysregulation: new therapies on the horizon

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. Allele-specific hybridization with oligonucleotide probes demonstrated that this mutation was found exclusively in type 1 phenotype. None of the 6 type 2 patients, 11 type 3 patients, or 12 normal controls had this allele. In contrast, 15 of 24 type 1 patients had one allele with this mutation, and 3 others were homozygous for the mutation. Furthermore, some of the Ashkenazic Jewish type 1 patients had ...

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The dimerization domain of SOX9 is required for transcription activation of a chondrocyte-specific chromatin DNA template

Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disease that is caused by defective complement regulation in over 50% of cases. Mutations have been identified in genes encoding both complement...Full Text Available

2011-01-01

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Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).

Mutations in SOX9, a gene essential for chondrocyte differentiation cause the human disease campomelic dysplasia (CD). To understand how SOX9 activates transcription, we characterized...Full Text Available

2010-10-01

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Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

BACKGROUND: Epidermolysis bullosa (EB) is a group of heritable diseases that manifest as blistering and erosions of the skin and mucous membranes. In the dystrophic forms of EB (DEB), the diagnostic...Full Text Available

1996-01-01

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Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

The majority of diseases in the retina are caused by genetic mutations affecting the development and function of photoreceptor cells. The transcriptional networks directing these processes are regulated...Full Text Available

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Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration

BackgroundAmyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3–10% of patients....Full Text Available

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Gene Therapy in the Retinal Degeneration Slow Model of Retinitis Pigmentosa

BackgroundMitochondrial dysfunction, oxidative damage and the accumulation of somatic mutations in mitochondrial DNA (mtDNA) have been associated with certain neurodegenerative disorders....Full Text Available

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Cyst Formation in Kidney via B-Raf Signaling in the PKD2 Transgenic Mice*

Human blinding disorders are often initiated by hereditary mutations that insult rod and/or cone photoreceptors and cause subsequent cellular death. Generally, the disease phenotype can be predicted...Full Text Available

2010-01-01

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Chapter 61: Photoreceptor Cell Degeneration in Abcr^?/? Mice

The pathogenic mechanisms of human autosomal dominant polycystic kidney disease (ADPKD) have been well known to include the mutational inactivation of PKD2. Although haploinsufficiency...Full Text Available

2009-03-13

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Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

Mice harboring a null mutation in Abca4/Abcr serve as a model of autosomal recessive Stargardt disease. Consistent with the human retinal disorder, deficiency...Full Text Available

2010-01-01

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A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

Familial defective apolipoprotein (apo) B-100 is a genetic disease that leads to hypercholesterolemia and to an increased serum concentration of low density lipoproteins that bind defectively to the...Full Text Available

1989-01-01

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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

PurposeTo detail the highly variable ocular phenotypes of a French family affected with an autosomal dominantly inherited vitreoretinopathy and to identify the disease gene.MethodsSixteen...Full Text Available

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Mapping of the human cone transducin {alpha} subunit (GNAT2) gene to 1p13 and mutation analysis in patients with Stargardt`s disease

Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm, and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant...Full Text Available

2010-02-01

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Transducin {alpha} subunits are members of a large family of G-proteins and play an important role in phototransduction in rod and cone photoreceptors. We report the localization of the human cone {alpha} transducin (GNAT2) gene using fluorescence in situ hybridization (FISH) on chromosome 1 in band p13. The recent assignment of a gene for Stargardt`s disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. Stargardt`s disease is characterized by degeneration in late childhood or early adulthood of the macula of the retina, a region rich in cones. We screened patients with Stargardt`s disease, with or without peripheral cone involvement as monitored by the full-field ERG, for mutations in this gene. We investigated 66 unrelated patients including 22 with peripheral cone dysfunction for ...

1994-09-01

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ORNL `90

This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

1990-12-31

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ORNL '90

Metabolomic analysis of the plant pathogenic fungi Fusarium graminearum and Fusarium culmorum

This overview of research conducted at ORNL in 1991 presents information on the subjects of biology, physics, and the environment. Specific topics include gene mutations in kidney disease, technology assessments in thermonuclear fusion, submarine hunting technology, ozone-safe refrigerants, optical data storage via surface enhanced raman spectroscopy, and waste mitigating microbes. (GHH)

1990-01-01

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Environmental Research Database

DescriptionThis project is part of the BBSRCs special initiative on plant and microbial metabolomics. The project will primarily focus on the trichothecene mycotoxin producing Ascomycete fungus Fusarium graminearum (Fg) which causes ear blight disease of small grain cereals. The project aims to explore the metabolome of various wild-type and single gene deletion Fg strains and to compare some of these with the identical gene mutation in the budding yeast, S. cerevisiae (Sc) and the saprophytic filamentous [continued...

2008-01-31

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Expression of V642 APP mutant causes cellular apoptosis as Alzheimer trait-linked phenotype.

S1 nuclease analysis of #alpha#-globin gene expression in preleukemic patients with acquired hemoglobin H disease after transfer to mouse erythroleukemia cells

APP is a transmembrane precursor of beta-amyloid. In dominantly inherited familial Alzheimer's disease (FAD), point mutations V6421, V642F and V642G have been discovered in APP695. Here we show that...Full Text Available

1996-02-01

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Three novel mutations responsible for Cockayne syndrome group A

The loss of #alpha#-globin gene transcriptional activity rarely occurs as an acquired abnormality during the evolution of myeloproliferative disease or preleukemia. To test whether the mutation responsible for the loss of #alpha#-globin gene expression (hemoglobin H disease) in these patients is linked with the #alpha#-globin genes on chromosome 16, the authors transferred chromosome 16 from preleukemic patients with acquired hemoglobin H disease to mouse erythroleukemia cells and measured the transcriptional activity of the human #alpha#-globin genes. After transfer to mouse erythroleukemia cells, the expression of human #alpha#-globin genes from the peripheral blood or marrow cells of preleukemic patients with acquired hemoglobin H disease was similar to that of human #alpha#-globin genes transferred to mouse erythroleukemia cells from normal donors. These data showed that ...

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Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease

Cockayne syndrome (CS) is a rare autosomal recessive disease, which shows diverse clinical symptoms such as photosensitivity, severe mental retardation and developmental defects. CS cells are hypersensitive to killing by ultraviolet (UV)-irradiation and defective in transcription-coupled repair. Two genetic complementation groups in CS (CS-A and CS-B) have been identified. We analyzed mutations of the CSA gene in 5 CS-A patients and identified 3 types of mutations. Four unrelated CS-A patients (CS2OS, CS2AW, Nps2 and CS2SE) had a deletion including exon 4, suggesting that there is a founder effect on the CSA mutation in Japanese CS-A patients. Patient CS2SE was a compound heterozygote for this deletion and an amino acid substitution at the 106th glutamine to proline (Q106P) in the WD-40 repeat motif of the CSA protein, which resulted in a defective nucleotide excision repair. Patient Mps1 had a large ...

2003-02-01

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British Library Electronic Table of Contents (United Kingdom)

Lebers hereditary optic neuropathy (LHON), the most frequent mitochondrial disorder, is mostly due to three mitochondrial DNA (mtDNA) mutations in respiratory chain complex I subunit genes: 3460/ND1, 11778/ND4 and 14484/ND6. Despite considerable clinical evidences, a genetic modifying role of the mtDNA haplogroup background in the clinical expression of LHON remains experimentally unproven. We investigated the effect of mtDNA haplogroups on the assembly of oxidative phosphorylation (OXPHOS) complexes in transmitochondrial hybrids (cybrids) harboring the three common LHON mutations. The steady-state levels of respiratory chain complexes appeared normal in mutant cybrids. However, an accumulation of low molecular weight subcomplexes suggested a complex I assembly/stability defect, which was ...

2008-01-01

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Improving protein quality of soybean through induced mutations

Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity

Soybean is one of the most economical and nutritious food packed with basic nutrients that combat diseases stemming from mal- and under-nutrition. Despite its rich nutritional profile, use of soybean in food has been limited because soybean proteins are often associated with compounds, which could exert a negative impact on the nutritional quality of the protein. Trypsin inhibitor (TI) is one of the important anti-nutritional factors that exert negative effect by causing growth inhibition. Soybean cultivar VLS-2 was irradiated with 250 Gy gamma rays in a gamma cell (200) with 60Co source installed at BARC to induce mutations for low trypsin inhibitor content. Three mutants with lower levels of TI content were identified and can be utilized for developing elite varieties of soybean. (author)

2011-02-22

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British Library Electronic Table of Contents (United Kingdom)

Coutinho MF, Encarnao M, Gomes R, da Silva Santos L, Martins S, Sirois-Gagnon D, Bargal R, Filocamo M, Raas-Rothschild A, Tappino B, Laprise C, Cury GK, Schwartz IV, Artigals O, Prata MJ, Alves S. Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity. Mucolipidosis II (ML II alpha/beta), or I-cell disease, is a rare genetic disease in which activity of the uridine diphosphate (UDP)-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransferase) is absent. GlcNAc-phosphotransferase is a multimeric enzyme encoded by two genes, GNPTAB and GNPTG. A spectrum of mutations in GNPTAB has been recently reported to cause ML II alpha/beta. Most of these mutations were found to be private or rare. ...

2011-01-01

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Sequence analysis of the ATM gene in 20 patients with RTOG grade 3 or 4 acute and/or late tissue radiation side effects

Induced mutation in narrow-leafed lupin improvement: An example of herbicide tolerance

Purpose: Patients with ataxia-telangiectasia (A-T) show greatly increased radiation sensitivity and cancer predisposition. Family studies imply that the otherwise clinically silent heterozygotes of this autosomal recessive disease run a 3.5 to 3.8 higher risk of developing cancer. In vitro studies suggest moderately increased cellular radiation sensitivity of A-T carriers. They may also show elevated clinical radiosensitivity. We retrospectively examined patients who presented with severe adverse reactions during or after standard radiation treatment for mutations in the gene responsible for A-T, ATM, considering a potential means of future identification of radiosensitive individuals prospectively to adjust dosage schedules. Material and Methods: We selected 20 cancer patients (breast, 11; rectum, 2; ENT, 2; bladder, 1; prostate, 1; anus, 1; astrocytoma, 1; Hodgkins lymphoma, 1) with Grade 3 to 4 (RTOG) acute and/or late tissue radiation side ...

1999-07-15

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Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.

Spontaneous mutation has been discovered and utilized in domestication of narrow-leafed lupin (Lupinus angustifolius L.). As the result of the domestication, lupin has become a dominant grain legume crop in Western Australia. Facing the new challenge of developing herbicide tolerance cultivars, chemical mutagenesis has been used to create new tolerance to herbicide. This paper reports the characterization of two lupin mutants (Tanjil-AZ-33 and Tanjil-AZ-55) that are highly tolerant to metribuzin herbicide. A dose response study over 8 doses revealed that Tanjil-AZ-33 was 6 times more tolerant to metribuzin than the original parental cultivar Tanjil by measure of LD50. This mutant Tanjil-AZ-33 is the most tolerant germplasm in narrow-leafed lupin. Both mutants also maintain the high resistance to the disease anthracnose as cv Tanjil. Seed yield based on small field plots (3.6 m"2) under irrigation was 4.2 t/ha for Tanjil-AZ-33 and 1.9 t/ha for ...

2008-08-12

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PAX6 Mutations and Clinical Features of Congenital Aniridia

PMID:20880255

2010-12-01

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Late-onset Stargardt-like macular dystrophy maps to chromosome 1p13

Full Text Available

2008-11-01

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Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters

Stargardt`s disease (MIM 248200), originally described in 1909, is an autosomal recessive condition of childhood, characterized by a sudden and bilateral loss of central vision. Typically, it has an early onset (7 to 12 years), a rapidly progressive course and a poor final outcome. The central area of the retina (macula) displays pigmentary changes in a ring form with depigmentation and atrophy of the retinal pigmentary epithelium (RPE). Perimacular yellowish spots, termed fundus flavimaculatus, are observed in a high percentage of patients. We have recently reported the genetic mapping of Stargardt`s disease to chromosome 1p13. On the other hand, considering that fundus flavimaculatus (MIM 230100) is another form of fleck fundus disease, with a Stargardt-like retinal aspect but with a late-onset and a more progressive course, we decided to test the hypothesis of allelism between typical Stargardt`s ...

1994-09-01

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British Library Electronic Table of Contents (United Kingdom)

Research on hematological disorders relies on suitable animal models. We retrospectively evaluated the use of the hematological parameters hematocrit (HCT), hemoglobin (HGB), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), red blood cell count (RBC), white blood cell count (WBC), and platelet count (PLT) in the phenotype-driven Munich N-ethyl-N-nitrosourea (ENU) mouse mutagenesis project as parameters for the generation of novel animal models for human diseases. The analysis was carried out on more than 16,000 G1 and G3 offspring of chemically mutagenized inbred C3H mice to detect dominant and recessive mutations leading to deviations in the levels of the chosen parameters. Identification of animals exhibiting altered valu...

2011-01-01

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Cyclosporine metabolic side effects: association with the WNK4 system

British Library Electronic Table of Contents (United Kingdom)

Abstract Background- Cyclosporine is used for treatment of transplanted patients and for immune-mediated diseases. Cyclosporine is known to cause a combination of metabolic side effects including hypertension, hyperkalemia, hypercalciuria and hypomagnesemia. These side effects except for hypomagnesemia are the cardinal features of familial hyperkalemia and hypertension (FHHt), also called pseudohypoaldosteronism type II (PHA II). FHHt is caused by mutations in the kinases WNK1 and WNK4 resulting in an increase in renal Na-Cl cotransporter (NCC) apical distribution and function. Therefore, we studied whether cyclosporine-s metabolic side effects are mediated by WNK4 and NCC. Design- Sprague-Dawley (SD) rats were treated by cyclosporine 25-mg-kg-1 subcutaneously for 14-days. Blood pressure, ...

2011-01-01

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A systematic RNAi screen reveals involvement of endocytic pathway in neuronal dysfunction in a-synuclein transgenic C. elegans

British Library Electronic Table of Contents (United Kingdom)

Mutations or multiplications in a-synuclein gene cause familial forms of Parkinson disease or dementia with Lewy bodies (LB), and the deposition of wild-type a-synuclein as LB occurs as a hallmark lesion of these disorders, collectively referred to as synucleinopathies, implicating a-synuclein in the pathogenesis of synucleinopathy. To identify modifier genes of a-synuclein-induced neurotoxicity, we conducted an RNAi screen in transgenic C. elegans (Tg worms) that overexpress human a-synuclein in a pan-neuronal manner. To enhance the RNAi effect in neurons, we crossed a-synuclein Tg worms with an RNAi-enhanced mutant eri-1 strain. We tested RNAi of 1673 genes related to nervous system or synaptic functions, and identified 10 genes that, upon knockdown, caused severe growth/motor abnormalit...

2008-01-01

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Mutation breeding in kalmia juvenile trees derived from shoot tip cultare and kobus seedlings

Current status of a hepatitis C vaccine: encouraging results but significant challenges ahead

Juvenile trees of kalmia derived from shoot tip culture, and seedlings of kobus were irradiated with #gamma#-rays. In kalmia, two mutation lines were obtained which had narrowlong leaves. In kobus two mutation lines were obtained. One mutation line has flowers with 7 to 13 petals. Another mutation line has yellow-green variegated leaves. (author).

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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients

Persistent hepatitis C virus (HCV) infection affects 170 million people worldwide. Acute HCV infection is often asymptomatic, but many infected individuals develop persistent infections that may lead to development of end-stage liver diseases, including liver cirrhosis and hepatocellular carcinoma. Thus, an HCV vaccine that could significantly lower the chronicity rate would have a major impact on the disease burden. Unfortunately, HCV is a highly mutable virus, and escape mutations can undermine vaccine-induced virus-specific immunity. Also, HCV exists as multiple genotypes, and so genotype-specific vaccines might be required to achieve broad protection. Finally, vaccine development has been hampered by the lack of a small animal model and cell culture systems, but these are currently being established. Despite these obstacles, several vaccine candidates tested in the chimpanzee HCV model have shown some encouraging ...

2007-01-01

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Homozygous SLC2A9 Mutations Cause Severe Renal Hypouricemia

BackgroundFamilial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations...Full Text Available

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mtDNA mutation C1494T, haplogroup A, and hearing loss in Chinese

Hereditary hypouricemia may result from mutations in the renal tubular uric acid transporter URAT1. Whether mutation of other uric acid transporters produces a similar phenotype is unknown. We studied...Full Text Available

2010-01-01

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British Library Electronic Table of Contents (United Kingdom)

Mutation C1494T in mitochondrial 12S rRNA gene was recently reported in two large Chinese families with aminoglycoside-induced and nonsyndromic hearing loss (AINHL) and was claimed to be pathogenic. This mutation, however, was first reported in a sample from central China in our previous study that was aimed to reconstruct East Asian mtDNA phylogeny. All these three mtDNAs formed a subclade defined by mutation C1494T in mtDNA haplogroup A. It thus seems that mutation C1494T is a haplogroup A-associated mutation and this matrilineal background may contribute a high risk for the penetrance of mutation C1494T in Chinese with AINHL. To test this hypothesis, we first genotyped mutation C1494T in 553 unrelated individuals from three regional Chinese populations and performed an extensive search ...

2006-01-01

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The early phase change Gene in Maize

Cloning of the neurodegeneration gene drop-dead and characterization of additional phenotypes of its mutation

Recessive mutations of the early phase change (epc) gene in maize affect several aspects of plant development. These mutations were identified initially because of...Full Text Available

2002-01-01

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A framework for evolutionary systems biology

Mutations in the Drosophila gene drop-dead (drd) result in early adult lethality and neurodegeneration, but the molecular identity of the drd...Full Text Available

2008-01-01

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The development of in vitro mutagenicity testing systems using T-lymphocytes

BackgroundMany difficult problems in evolutionary genomics are related to mutations that have weak effects on fitness, as the consequences of mutations with large effects are often...Full Text Available

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Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene

This annual report describes progress in studies on hprt mutations induced by radon or Indium 111 along with the corresponding mutation frequency, cloning and molecular spectra in human T-lymphocytes. Parallel studies on the mutation susceptibility between individuals is being investigated by hprt mutation studies on ataxia telangiectasia and xeroderma pigmentosum.

1993-05-01

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Mutation breeding in leguminous crop plants

Udgivelsesdato: 2006/8

2006-01-01

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Magnetic resonance imaging of cerebral anomalies in subjects with resistance to thyroid hormone

Since it was introduced in the early 1940's, mutation breeding has been tested on many crops as modern plant breeding. Until now, more than seven hundred varieties have been developed by means of induced mutation, and many of them officially released and approved for registration. Hundreds of papers report the results of mutation breeding, and the characteristics of induced mutation in different kinds of crops were discussed for review purposes (Blixt and Gottschalk 1975, Gottschalk and Wolff 1983). Considering the results already obtained, it can be concluded that the kinds of induced mutation and their utilization vary from crop to crop. This paper summarizes and discusses the mutation characteristics and kinds on the induced mutants of leguminous plants that have been released.

1988-03-01

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Induced plasmon mutations affecting the growth habit of peanuts, A. hypogaea L

Resistance to thyroid hormone (RTH) is an autosomal dominant disease caused by mutations in the human thyroid receptor beta gene on chromosome 3. Individuals with RTH have an increased incidence of attention deficit hyperactivity disorder (ADHD). The purpose of this study was to search for developmental brain malformations associated with RTH. Forty-three subjects (20 affected males [AM], 23 affected females [AF]) with resistance to thyroid hormone and 32 unaffected first degree relatives (18 unaffected males [UM], 14 unaffected females [UF]) underwent MRI brain scans with a volumetric acquisition that provided 90 contiguous 2 mm thick sagittal images. Films of six contiguous images beginning at a standard sagittal position lateral to the insula were analyzed by an investigator who was blind with respect to subject characteristics. The presence of extra or missing gyri in the parietal bank of the Sylvian fissure (multimodal association cortex) ...

1995-06-19

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Loss of PINK1 function decreases PP2A activity and promotes autophagy in dopaminergic cells and a murine model

The effectiveness of the acridines ethidium bromide (EB) and acriflavine in inducing plasmon mutations was compared with the alkylating agents ethyl methanesulphonate (EMS) and diethyl sulphate and to #gamma#-rays. The growth habit (trailing versus bunch) of peanuts (A. hypogaea), controlled by genic-cytoplasmic interactions, was utilized. Breeding tests distinguishing nuclear from plasmon mutations were developed and are described in detail. Plasmon mutations were induced, but there were differences in mutation yields between the cultivars and the mutagens. (Auth.).

1978-01-01

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British Library Electronic Table of Contents (United Kingdom)

Parkinson's disease (PD) is the most common neurodegenerative movement disorder. Mutations in PTEN-induced kinase 1 (PINK1) are a frequent cause of recessive PD. Autophagy, a pathway for clearance of protein aggregates or impaired organelles, is a newly identified mechanism for PD development. However, it is still unclear what molecules regulate autophagy in PINK1-silenced cells. Here we report that autophagosome formation is promoted in the early phase in response to PINK1 gene silencing by lentivirus transfer vectors expressed in mouse striatum. Reduced PP2A activity and increased phosphorylation of PP2A at Y307 (inactive form of PP2A) were observed in PINK1-knockdown dopaminergic cells and striatum tissues. Treatment with C2-ceramide (an agonist of PP2A) reduced autophagy levels in PINK...

2011-01-01

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Evolutionary dynamics of Newcastle disease virus

Absence of linkage of apparently single gene mediated ADHD with the human syntenic region of the mouse mutant coloboma

A comprehensive dataset of NDV genome sequences was evaluated using bioinformatics to characterize the evolutionary forces affecting NDV genomes. Despite evidence of recombination in most genes, only one event in the fusion gene of genotype V viruses produced evolutionarily viable progenies. The codon-associated rate of change for the six NDV proteins revealed that the highest rate of change occurred at the fusion protein. All proteins were under strong purifying (negative) selection; the fusion protein displayed the highest number of amino acids under positive selection. Regardless of the phylogenetic grouping or the level of virulence, the cleavage site motif was highly conserved implying that mutations at this site that result in changes of virulence may not be favored. The coding sequence of the fusion gene and the genomes of viruses from wild birds displayed higher yearly rates of change in virulent viruses than in viruses of low virulence, suggesting that an ...

2009-08-15

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Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis.

Attention deficit disorder (ADHD) is a complex biobehavioral phenotype which affects up to 8% of the general population and often impairs social, academic, and job performance. Its origins are heterogeneous, but a significant genetic component is suggested by family and twin studies. The murine strain, coloboma, displays a spontaneously hyperactive phenotype that is responsive to dextroamphetamine and has been proposed as a genetic model for ADHD. Coloboma is a semi-dominant mutation that is caused by a hemizygous deletion of the SNAP-25 and other genes on mouse chromosome 2q. To test the possibility that the human homolog of the mouse coloboma gene(s) could be responsible for ADHD, we have carried out linkage studies with polymorphic markers in the region syntenic to coloboma (20p11-p12). Five families in which the pattern of inheritance of ADHD appears to be autosomal dominant were studied. Segregation analysis of the traits studied suggested that the best ...

1995-12-18

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Tumor-derived extracellular mutations of PTPRT/PTP? are deficient in cell adhesion

Neuronal transcription factors play vital roles in the specification and development of neurons, including dopaminergic (DA) neurons. Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause the resulting intractable and largely untreatable neurological impairment of Lesch-Nyhan disease (LND). The disorder is associated with a defect in basal ganglia DA pathways. The mechanisms connecting the purine metabolic defect and the central nervous system (CNS) phenotype are poorly understood but have been presumed to reflect a developmental defect of DA neurons. We have examined the effect of HPRT deficiency on the differentiation of neurons in the well-established human (NT2) embryonic carcinoma neurogenesis model. We have used a retrovirus expressing a small hairpin RNA (shRNA) to knock down HPRT gene expression and have examined the expression of a number of transcription factors ...

2009-08-11

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Transcription induces strand-specific mutations at the 5? end of human genes

Receptor protein tyrosine phosphatase T (PTPRT/PTPρ) is frequently mutated in human cancers including colon, lung, gastric and skin cancers. More than half of the identified tumor-derived...Full Text Available

2008-07-01

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Rapid detection of epidermal growth factor receptor mutations with multiplex PCR and primer extension in lung cancer

A regional analysis of nucleotide substitution rates along human genes and their flanking regions allows us to quantify the effect of mutational mechanisms associated with transcription in germ line...Full Text Available

2008-08-01

63

Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature

Epidermal growth factor receptor (EGFR) kinase domain mutations hyperactivate the kinase and confer kinase addiction of the non-small-cell lung cancer (NSCLC) tumor...Full Text Available

64

Mutational analysis of bacteriophage lambda lysis gene S.

PurposeTo report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).MethodsFull...Full Text Available

65

Mutation analysis of the ferritin L-chain gene in age-related cataract

A plasmid carrying the bacteriophage lambda lysis genes under lac control was subjected to hydroxylamine mutagenesis, and mutations eliminating the host lethality of the S gene were selected. DNA sequence...Full Text Available

1986-09-01

66

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray

PurposeTo investigate whether acquired somatic mutations in the iron response element of the ferritin L-chain gene account for the age-related cataract.MethodsThe...Full Text Available

67

Incorporation of dUTP does not mediate mutation of A:T base pairs in Ig genes in vivo

PurposeRetinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by progressive loss of vision. The aim of this study was to identify the causative mutations...Full Text Available

68

Detection of TP53 mutation, loss of heterozygosity and DNA content in fine-needle aspirates of breast carcinoma.

Activation-induced cytidine deaminase (AID) protein initiates Ig gene mutation by deaminating cytosines, converting them into uracils. Excision of AID-induced uracils by uracil-N-glycosylase...Full Text Available

2010-12-01

69

Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

Recent preclinical and clinical data suggest that TP53 status and TP53 mutations may be important in determining tumour aggressiveness and therapy response. In this study we investigate the feasibility...Full Text Available

1998-01-01

70

CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability

Carney-Stratakis syndrome, an inherited condition predisposing affected individuals to gastrointestinal stromal tumor (GIST) and paraganglioma, is caused by germline mutations in succinate dehydrogenase...Full Text Available

2011-01-04

71

Analysis of forward mutations induced by N-methyl-N'-nitro-N-nitrosoguanidine in the bacteriophage P22 mnt repressor gene

PurposeTo analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to primary congenital glaucoma (PCG) in Spanish patients.MethodsWe...Full Text Available

72

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

We describe the isolation and genetic characterization of N-methyl-N'-nitro-N-nitrosoguanidine (MNNG)-induced mutations in the phage P22 mnt repressor gene cloned in plasmid pBR322. Mutations in the mnt repressor gene or its operator on this plasmid, pPY98, confer a tetracycline resistance phenotype, whereas the wild-type plasmid confers tetracycline sensitivity. Cells carrying pPY98 were briefly exposed to MNNG to give 20 to 40% survival and a 50- to 100-fold increase in tetracycline-resistant cells. DNA sequence analysis showed that 29 to 30 MNNG-induced mutations were GC-to-AT transitions and one was an AT-to-GC transition. About 80% of the mutations are in three hotspots. This mutation spectrum is consistent with the proposed mechanism of mutagenic action of MNNG, which involves mispairing of an alkylated base, O/sup 6/-methylguanine. The mnt gene may be a useful target ...

1986-04-01

73

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

BackgroundSLC19A3 (solute carrier family 19, member 3) is a thiamin transporter with 12 transmembrane domains. Homozygous or compound heterozygous mutations in SLC19A3 cause...Full Text Available

74

A cytosine methyltransferase homologue is essential for repeat-induced point mutation in Neurospora crassa

BackgroundThe commonest pathogenic DMD changes are intragenic deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) detectable...Full Text Available

75

Detection of Mitochondrial DNA Mutations in Mammary ...

During sexual development, Neurospora crassa inactivates genes in duplicated DNA segments by a hypermutation process, repeat-induced point mutation (RIP). RIP introduces C:G to T:A...Full Text Available

2002-06-25

76

Occurrence of mutations in the epidermal growth factor receptor gene in X-ray-induced rat lung tumors

... Loss of Heterozygosity in Normal Breast Epithelial Tissue and Benign Breast Lesions in BRCA1/2 Carriers with Breast Cancer. ...

2004-09-01

77

Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias

Epidermal growth factor receptor (EGFR) gene alterations have been found in human lung cancers. However, there is no information on the factors inducing EGFR mutations. In rodents, K-ras mutations are frequently found in many lung carcinogenesis models, but hitherto, Egfr mutations have not been reported. Their presence was therefore investigated in representative lung carcinogenesis models with 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone (NNK), N-nitrosobis(2-hydroxypropyl)amine (BHP), 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline (MelQx) and ethyl carbamate (urethane), as well as X-ray irradiation. With the chemical carcinogenesis models, no mutations were detected in Egfr, which is in clear contrast to the high rates observed in either codon 12 or 61 of K-ras (21/23 of the lung tumors induced with NNK, 4/5 with MelQx, 1/4 with urethane and 7/18 with BHP). However, in the X-ray-induced lung tumors, ...

2008-02-01

78

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

BackgroundGene mutation is an important mechanism of myeloid leukemogenesis. However, the number and combination of gene mutated in myeloid malignancies is still a matter of investigation.MethodsWe...Full Text Available

79

Reveal the Level of Anxiety in Patients With Crohn's Disease Receiving Adalimumab (Relax)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice ...

2010-01-01

80

Genetically and somatically significant radiation doses in the radiotherapy of inflammatory and degenerative diseases

Severe Crohn's Disease; Anxiety

2011-09-01

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81

Biocontrol Agents of Crops Diseases

... pathological changes patients radiation protection radiotherapy diseases

1982-10-25

82

International Science & Technology Center (ISTC)

Scale up of Technology for Production and Application of Rhizobacteria-Based Preparations as Biocontrol Agents of Crop Diseases

83

A Study of PRT-201 Administered Immediately After Arteriovenous Fistula Creation in Patients With Chronic Kidney Disease

New discoveries in prostate cancer pathogenesis

Chronic Kidney Disease

2011-07-19

84

Mucociliary transport and upper airway disease

Background. Through PSA screening the rate of prostate cancers detected at an early stage has increased significantly; thus a decrease in mortality can be expected in the near future. Despite all scientific efforts, however, the molecular mechanisms underlying the development and progression of prostate cancer remain poorly understood. Prostate cancer is a disease of aging men and epidemiological evidence supports a major contribution to its development through diet, lifestyle and environmental factors. Genetic instability is the basic phenomenon of tissue cell cancerisation. This instability can be hereditary or due to mutations and other chromosomal aberrations acquired during life. In recent years a large number of interesting data have been collected which show the relationships between focal atrophy and genetic instability of the prostate epithelia. Atrophy can be the result of prostatitis, ischemia as well as of oxidative stress (diet). ...

85

The vacuolar processing enzyme (VPE) mutation suppresses an HR-like cell death induced by the double knockout mutant of vacuolar Ca2+-ATPases in Arabidopsis

Mucociliary transport so critical in nasal, paranasal sinus, and middle ear physiology is impaired in chronic sinsusitis and otitis media by factors such as increased mucus viscoelasticity, decreased ciliary area, and primary or secondary ciliary immotility. We reviewed the pathophysiology of primary ciliary dyskinesia, otitis media with effusion, chronic sinusitis, and allergic rhinitis in terms of mucociliary transport. Subjects with primary ciliary dyskinesia may experience recurrent middle ear infection, chronic airway infection, predominantly lower-lobe bronchiectasis, male sterility, or situs inversus. Primary ciliary dyskinesia is sometimes difficult to diagnose in cases without situs inversus. Nasal nitric oxide concentration in such patients decreases, although why is unclear. Mutations may involve dynein arm intermediate chain 1 (DNAI1) or dynein arm heavy chain 5 (DNAH5). Mucociliary clearance decreases more in those with otitis media with effusion than ...

2010-05-01

86

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

Full Text Available

2011-06-01

87

British Library Electronic Table of Contents (United Kingdom)

The penetrance of Lebers hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (Pin vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a seconda...

2008-01-01

88

State II Dissociation Element Formation Following Activator Excision in Maize

Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells

Active Activator (Ac) elements undergo mutations to become nonautonomous Dissociation (Ds) elements at a low frequency. To understand...Full Text Available

2007-10-01

89

BackgroundABCA3 transporter (ATP-binding cassette transporter of the A subfamily) is localized to the limiting...Full Text Available

2011-01-01

90

Ras history

N-acetoxy-N-2-acetylaminofluorene induced frameshift mutations: a comparison between the DNA modification spectrum and the mutation spectrum

Although the roots of Ras sprouted from the rich history of retrovirus research, it was the discovery of mutationally activated RAS genes in human cancer in 1982 that stimulated an...Full Text Available

2010-07-01

91

Mutations in RNA Binding Protein Gene Cause Familial Dilated Cardiomyopathy

We describe the analysis of forward mutations induced in the tetracycline resistance gene of the plasmid pBR322 by directing the reaction of the carcinogen N-acetoxy-N-2-acetylaminofluorene (N-AcO-AAF) to a small restriction fragment (BamHI, SalI) that is located in the proximal part of the antibiotic-resistance gene. Mutant plasmids obtained both in wild type and excision repair deficient (uvrA) bacterial cells are compared. Preliminary data showing the distribution of the -AAF adducts along this restriction fragments are discussed in relation to the observed spectrum of mutations. 20 references, 4 figures.

92

Mutation frequency in hprt gene in children accidentally exposed to ionizing radiations; Frequencia de mutacao no gene hprt em criancas acidentalmente expostas as radiacoes ionizantes

ObjectivesWe sought to identify a novel gene for dilated cardiomyopathy (DCM).BackgroundDCM is a heritable, genetically...Full Text Available

2009-09-01

93

Misfolded Proteins and Retinal Dystrophies

No abstract prepared

1995-09-01

94

MEDICAL FINAL REVIEW MEMORANDUM OF ORIGINAL BLA

Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death...Full Text Available

2010-01-01

95

Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.

... The AAT Z mutation involves a single amino acid substitution (glutamine for lysine) at position 342, resulting in abnormal folding and polymerization of the ...

96

Genomics of human longevity

Objective:? Primary hyperparathyroidism (HPT) is characterised by autonomous secretion of PTH from enlarged parathyroid glands leading, in most patients, to asymptomatic hypercalcaemia. Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder caused by inactivating mutations in the calcium sensing receptor (CaSR) gene; it is characterised by lifelong and usually asymptomatic hypercalcaemia. Establishing the correct diagnosis is important because surgery can be curative in HPT, but ineffective in FHH. There is overlap in the diagnostic criteria for the two disorders and some patients carrying inactivating mutations in the CaSR gene, which is suggestive of FHH, also have HPT with hyperplastic parathyroid glands or adenomas. Design and Patients:? CaSR gene mutations were analyzed and clinical and biochemical parameters evaluated in 139 consecutive out-patients presenting with hypercalcaemia and suspected ...

2011-03-29

97

Embryonic Senescence and Laminopathies in a Progeroid Zebrafish Model

In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences...Full Text Available

2011-01-12

98

Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation

BackgroundMutations that disrupt the conversion of prelamin A to mature lamin A cause the rare genetic disorder Hutchinson-Gilford progeria syndrome and a group of laminopathies....Full Text Available

99

Defective gut function in drop-dead mutant Drosophila

... 3-89701-147-6 0949-2224 245 p. animal cells dna genetic radiation effects

1998-03-01

100

Abnormal chromosome repair and risk of developing cancer.

Mutation of the gene drop-dead (drd) causes adult Drosophila to die within 2 weeks of eclosion and is associated with reduced rates of defecation...Full Text Available

2009-09-01

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101

AEC syndrome - Genetics Home Reference

Several scientists have proposed that DNA repair deficiencies and the induction of a mutator phenotype are responsible for the generation of multiple mutagenic alterations in cancer cells. I propose...Full Text Available

1993-10-01

102

A child with hyperferritinemia: Case report

What genes are related to AEC syndrome? AEC syndrome is caused by mutations in the TP63 gene. This gene provides instructions for making a protein known as p63, which plays an...

2011-10-15

103

Mitochondria and PGC-1? in Aging and Age-Associated Diseases

Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare condition caused by mutations in the gene coding for the light chain of ferritin; it does not lead to iron overload, but it is associated...Full Text Available

104

Healthy aging and disease: role for telomere biology?

Aging is the most significant risk factor for a range of degenerative disease such as cardiovascular, neurodegenerative and metabolic disorders. While the cause of aging and its associated diseases...Full Text Available

105

Spontaneous mutations affecting the host range of the B77 strain of avian sarcoma virus involve type-specific changes in the virion envelope antigen.

Aging is a biological process that affects most cells, organisms and species. Human aging is associated with increased susceptibility to a variety of chronic diseases, including cardiovascular disease,...Full Text Available

2011-05-01

106

Prostaglandin E₂ Signals Through PTGER2 to Regulate Sclerostin Expression

Previously it was shown that the host-range gene of the Bratislava strain of avain sarcoma virus (B77 virus) spontaneously mutates with a very high rate. The wild-type B77 virus called B77 virus-II,...Full Text Available

1977-01-01

107

Mutations induced in the hypoxanthine phosphoribosyl transferase gene by three urban air pollutants: acetaldehyde, benzo[a]pyrene diolepoxide, and ethylene oxide.

The Wnt signaling pathway is a robust regulator of skeletal homeostasis. Gain-of-function mutations promote high bone mass, whereas loss of Lrp5 or Lrp6 co-receptors decrease bone mass. Similarly, mutations...Full Text Available

108

Missense mutations in the growth hormone receptor dimerization region in Laron syndrome

Provisional mutational spectra at the hypoxanthine phosphoribosyl transferase (HPRT) locus in vitro have been worked out for acetaldehyde (AA) and benzo[a]pyrene diolepoxide (BPDE) in human (T)-lymphocytes...Full Text Available

1994-10-01

109

Interplay of Reverse Transcriptase Inhibitor Therapy and Gag p6 Diversity in HIV Type 1 Subtype G and CRF02_AG

Laron syndrome (LS) is an autosomal recessively inherited condition characterized by insensitivity to endogenous and exogenous GH. Affected individuals have severe episodes and other characteristic features. GH receptor gene mutations are present in all affected individuals in whom molecular studies have been reported. The GH receptor is a plasma membrane-spanning protein in which the extracellular domain binds circulating GH and the intracellular domain interacts with the JAK-2 kinase and possibly other intracellular signaling molecules. GH receptor dimerization occurs on GH binding and is thought to be required for normal signal transduction. We have studied the GH receptor genes of four unrelated individuals affected with LS from the United States, Italy, Saudi Arabia, and India. We have identified four different missense mutations that alter consecutive amino acids 152 to 155 in or near the dimerization domain of the GH receptor. One of ...

1994-09-01

110

Induction and use of sex linked lethal mutations in the pink bollworm

AbstractThe gag p6 region of HIV-1 has various nonsubstitutionary mutations, including insertions, duplications, deletions, and premature stop codons. Studies have linked gag p6 mutations...Full Text Available

2008-09-01

111

Homozygosity Mapping Reveals Null Mutations in FAM161A as a Cause of Autosomal-Recessive Retinitis Pigmentosa

The sterile insect release technique can often be improved by removal of females before release. Rearing efficiencies can also be increased if removal of the females occurs at early developmental stages. In order to begin to develop genetic sexing strains for the pink bollworm, Pectinophora gossypiella (Saunders), it was necessary to determine the best dosage of radiation for induction of viable sex linked recessive lethal mutations and to see if stocks containing induced sex linked lethals could be maintained in culture. Sex linked recessive lethal mutations can be detected by distorted sex ratios in the progeny of treated adults. However, in the pink bollworm, highly distorted sex ratios are common even in the absence of induced mutations. Therefore, a visible sex linked trait, purple eye, was used as a marker for the untreated X-chromosomes in crosses. Thus, the presence of a recessive sex linked lethal ...

1987-11-16

112

Effect of UV radiation on the killer phenotype in the wine yeast-saccharomycetes and spontaneous variation of this character

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 45 genes. Using homozygosity mapping, we identified a ∼4 Mb homozygous region...Full Text Available

2010-09-10

113

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Spontaneous and ultraviolet-induced changeabilities of wine yeasts from the killer state to sensitive one have been studied. Observed often spontaneous changes of killer and neutral phenotypes under laboratory store conditions as well as high mutation frequency of genetic elements responsible for the killer indication on ultraviolet irradiation testify that often encounterability in nature and in the production of sensitive yeasts is attributed to high frequency of mutation changes of the killer and neutral phenotypes to the sensitive state.

114

Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3)

We investigated the distribution and expression of mutant mtDNAs carrying the A-to-G mutation at position 8344 in the tRNA(Lys) gene in the skeletal muscle of four patients with myoclonus epilepsy and...Full Text Available

1992-12-01

115

Complementation of areA- regulatory gene mutations of Aspergillus nidulans by the heterologous regulatory gene nit-2 of Neurospora crassa.

PurposeTo describe clinical data and to characterize mutations in the transforming growth factor beta-induced (TGFBI) gene in patients from three unrelated Chilean...Full Text Available

116

Compensation for a Mutated Auxin Biosynthesis Gene of Agrobacterium Ti Plasmid A66 in Nicotiana glutinosa Does Not Result from Increased Auxin Accumulation ¹

Loss-of-function mutations in the regulatory gene areA of Aspergillus nidulans prevent the utilization of a wide variety of nitrogen sources. The phenotypes of nit-2 mutants of Neurospora crassa suggest...Full Text Available

1987-06-01

117

The influence of handedness on the clinical presentation and neuropsychology of Alzheimer disease.

Nicotiana glutinosa compensated for a mutated tumor-morphology-shooty (tms) (auxin biosynthesis) locus of Agrobacterlum tumefaciens strain A66 and...Full Text Available

1989-04-01

118

The Spectrum of Monogenic Autoinflammatory Syndromes: Understanding Disease Mechanisms and Use of Targeted Therapies

PMID:10488815

1999-09-01

119

Symptomatic or asymptomatic gallstone disease: is the gallbladder motility the clue?

Monogenic autoinflammatory diseases encompass a distinct and growing clinical entity of multisystem inflammatory diseases with known genetic defects in the innate immune system. The diseases...Full Text Available

2008-07-01

120

Surgical practice in symptomatic and asymptomatic gallstone disease.

PMID:12239906

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121

Modulation of Benzene Metabolism by Exposure to Environment

PMID:12385541

122

Massachusetts' approach to the prevention of heart disease, cancer, and stroke.

Lung Diseases; Cancer

2005-06-23

123

Magnetic Resonance Imaging in Neurologic Diseases

Heart disease, cancer, and cerebrovascular disease together cause more than two out of three deaths in the United States annually. These three diseases are largely a result of widespread risk factors...Full Text Available

1986-01-01

124

Magnetic Resonance Imaging in Abdominal Disease

Full Text Available

1985-01-01

125

ECG GAted Magnetic Resonance Imaging in Cardiovascular Disease

Full Text Available

1986-06-01

126

Advances in Chronic Kidney Disease - Elsevier

Full Text Available

1985-03-01

127

...Advances in Chronic Kidney Disease-The purpose of Advances Chronic Kidney Disease is to provide in-depth, scholarly review articles about the care and mana ... Advances in Chronic Kidney Disease - Elsevier Home Products User Resources About Us Support & Contact Elsevier Websites Advanced Product ...Search Browse Journals Advances in Chronic Kidney Disease Advances in Chronic Kidney Disease Additional Information Related Publications Editorial Board Journal Online e- Alert Readers ...year: 6 Tips Title This is my tip content Visit Advances in Chronic Kidney Disease Online! The purpose of Advances Chronic Kidney Disease is ...

128

Monitoring of DNA and cytogenetic damage in lymphocytes from persons with skin cancer diseases

... Obstructive Pulmonary Disease) Crohn's Disease Cystic Fibrosis Depression Diabetes - Eye Complications Diabetes - Foot Care Diabetes - Introduction Diabetes - ...

129

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

There is a lot of interest in the studies that would help to understand whether there is a casual association between cancer and various types of molecular or cytogenetic damage detected in human cells. One major oncogenesis process is activation of proto-oncogenes by point mutations or chromosomal translocation. There are substantial evidence that indicates that the loss of heterozygosity of certain chromosomes is involved in human cancerogenesis. Our study aimed to elicit the possible association between cancer and DNA and cytogenetic abnormalities induced in lymphocytes of people bearing various categories of skin cancer cells. Fresh blood was collected by venipuncture from 25 individuals (including nine prior to cancer treatment). All patients were nonsmoking males, however 42.3 % of them were former smokers. Blood samples were divided into two parts and in the first part of samples cytogenetic studies were performed immediately, while from the second part ...

2004-11-01

130

Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed ...

2008-08-25

131

Mutation analysis of KRAS prior to targeted therapy in colorectal cancer: development and evaluation of quality by a European external quality assessment scheme

The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate ...

2008-08-25

132

British Library Electronic Table of Contents (United Kingdom)

In Europe, the use of anti-EGFR monoclonal antibodies is restricted to Kirsten RAS (KRAS) wild-type colorectal tumors. Information on the KRAS status of the patients tumor is thus key for clinical practice; however, there is little guidance or definition on which KRAS mutations to assess and how to assess them. To ensure the consistency and the quality of KRAS test results in Europe, an interlaboratory control network needs to be set up. This pilot study aimed to identify the variables that need to be assessed in a quality control scheme and to provide a first assessment in a selected set of laboratories. Fourteen different tumor cases were circulated between 13 laboratories by a central laboratory acting as the referent for the mutation status determination. This study illustrated that of...

2011-01-01

133

Computational mouse atlases and their application to automatic assessment of craniofacial dysmorphology caused by the Crouzon mutation Fgfr2C342Y

British Library Electronic Table of Contents (United Kingdom)

Abstract Crouzon syndrome is characterized by premature fusion of sutures and synchondroses. Recently, the first mouse model of the syndrome was generated, having the mutation Cys342Tyr in Fgfr2c, equivalent to the most common human Crouzon/Pfeiffer syndrome mutation. In this study, a set of micro-computed tomography (CT) scannings of the skulls of wild-type mice and Crouzon mice were analysed with respect to the dysmorphology caused by Crouzon syndrome. A computational craniofacial atlas was built automatically from the set of wild-type mouse micro-CT volumes using (1) affine and (2) non-rigid image registration. Subsequently, the atlas was deformed to match each subject from the two groups of mice. The accuracy of these registrations was measured by a comparison of manually placed landma...

2007-01-01

134

Cell-mediated mutagenesis and cell transformation of mammalian cells by chemical carcinogens. [Rats, hamsters

Absence of the A4 peptide in the G4 glycinin subunit of soybean cultivar Enrei is caused by a point mutation in the Gy4 gene

We have developed a cell-mediated mutagenesis assay in which cells with the appropriate markers for mutagenesis are co-cultivated with either lethally irradiated rodent embryonic cells that can metabolize carcinogenic hydrocarbons or with primary rat liver cells that can metabolize chemicals carcinogenic to the liver. During co-cultivation, the reactive metabolites of the procarcinogen appear to be transmitted to the mutable cells and induce mutations in them. Assays of this type make it possible to demonstrate a relationship between carcinogenic potency of the chemicals and their ability to induce mutations in mammalian cells. In addition, by simultaneously comparing the frequencies of transformation and mutation induced in normal diploid hamster cells by benzo(a)pyrene (BP) and one of its metabolites, it is possible to estimate the genetic target size for cell transformation in vitro.

1977-01-01

135

Scientific Electronic Library Online (English)

Abstract in english Functional properties of soy proteins for food are closely related to the composition of their storage protein subunits. Using base excision sequence scanning (BESS), we show that the absence of the A4 peptide in the G4 glycinin subunit of the soybean (Glycine max L.) cultivar Enrei was caused by the same point mutation in the Gy4 gene as previously reported in the soybean cultivar Raiden. Although the genetic relationship between Raiden and Enrei is not known, the same p (more) oint mutation in their Gy4 genes may indicate that they probably share a related origin. The application of BESS to identify single nucleotide polymorphisms (SNPs) as co-dominant markers for marker-assisted selection (MAS) of a recessive null allele is also discussed.

2005-09-01

136

A miniaturized spatial temperature gradient capillary electrophoresis system with radiative heating and automated sample introduction for DNA mutation detection

British Library Electronic Table of Contents (United Kingdom)

Abstract A miniaturized spatial temperature gradient CE system with automated sample introduction for DNA mutation detection was established. Continuous electrokinetic sample injection was achieved by combining an automated slotted vial array sample introduction device to the spatial temperature gradient CE system. The temperature gradient was produced by a radiative heating system with a single graphite block heater, and the stability of the temperature gradient was investigated. The temperature variation of each measure point was 0.12 0.21% RSD (n=7) within 6 h. A 14 cm Teflon AF coated silica capillary was used both as the separation channel and as the liquid core waveguide tube of fluorescence signal. Under a temperature gradient from 54.8 to 59.5 C, a low range control mutation standa...

2010-01-01

137

p53 mutation in breast cancer. Correlation with cell kinetics and cell of origin

[Malignant transformation of human fibroblasts by neutrons and by gamma radiation: Relationship to mutations induced

Aim: Several studies have investigated the expression of the cytokeratins (CKs), vimentin, the epithelial growth factor receptor (EGFR), the oestrogen receptor (ER), and the progesterone...Full Text Available

2002-06-01

138

Type I Collagen Is a Genetic Modifier of Matrix Metalloproteinase 2 in Murine Skeletal Development

A brief overview if provided of selected reports presented at the International Symposium on Molecular Mechanisms of Radiation- and Chemical Carcinogen-Induced Cell Transformation held at Mackinac Island, Michigan on September 19-23, 1993.

1993-12-31

139

Tuberous Sclerosis Complex Activity is Required to Control Neuronal Stress Responses in an mTOR-Dependent Manner

Recessive inactivating mutations in human matrix metalloproteinase 2 (MMP2, gelatinase A) are associated with syndromes that include abnormal facial appearance, short stature, and severe bone...Full Text Available

2007-06-01

140

Transposable elements are enriched within or in close proximity to xenobiotic-metabolizing cytochrome P450 genes

Tuberous Sclerosis Complex (TSC) is a neurogenetic disorder caused by loss-of-function mutations in either the TSC1 or TSC2 genes and frequently results in...Full Text Available

2009-05-06

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141

The mitochondrial p53 pathway

BackgroundTransposons, i.e. transposable elements (TEs), are the major internal spontaneous mutation agents for the variability of eukaryotic genomes. To address the general issue...Full Text Available

142

The erratic mitochondrial clock: variations of mutation rate, not population size, affect mtDNA diversity across birds and mammals

p53 is one of the most mutated tumor suppressors in human cancers and as such has been intensively studied for a long time. p53 is a major orchestrator of the cellular response to a broad array...Full Text Available

2009-05-01

143

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

BackgroundDuring the last ten years, major advances have been made in characterizing and understanding the evolution of mitochondrial DNA, the most popular marker of molecular biodiversity....Full Text Available

144

Targeting the p53 Pathway in Ewing Sarcoma

Dominant mutations in sarcomere protein genes cause hypertrophic cardiomyopathy, an inherited human disorder with increased ventricular wall thickness, myocyte hypertrophy, and disarray. To understand...Full Text Available

2002-04-15

145

T cell-engaging BiTE antibodies specific for EGFR potently eliminate KRAS- and BRAF-mutated colorectal cancer cells

The p53 tumour suppressor plays a pivotal role in the prevention of oncogenic transformation. Cancers frequently evade the potent antitumour surveillance mechanisms of p53 through mutation of the TP53...Full Text Available

2011-01-01

146

Species abundance distributions in neutral models with immigration or mutation and general lifetimes

Epidermal growth factor receptor (EGFR)-specific monoclonal antibodies predominantly inhibit colorectal cancer (CRC) growth by interfering with receptor signaling. Recent analyses have shown that patients...Full Text Available

2010-07-13

147

CERN Document Server

We consider a general, neutral, dynamical model of biodiversity. Individuals have i.i.d. lifetime durations, which are not necessarily exponentially distributed, and each individual gives birth independently at constant rate \\lambda. We assume that types are clonally inherited. We consider two classes of speciation models in this setting. In the immigration model, new individuals of an entirely new species singly enter the population at constant rate \\mu (e.g., from the mainland into the island). In the mutation model, each individual independently experiences point mutations in its germ line, at constant rate \\theta. We are interested in the species abundance distribution, i.e., in the numbers, denoted I_n(k) in the immigration model and A_n(k) in the mutation model, of species represented by k individuals, k=1,2,...,n, when there are n individuals in the total population. In the immigration model, we prove that the ...

2010-01-01

148

Sp1/NF?B/HDAC/miR-29b Regulatory Network in KIT-driven Myeloid Leukemia

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

SUMMARYThe biologic and clinical significance of KIT overexpression that associates with KIT gain-of- function mutations occurring in subsets...Full Text Available

2010-04-13

149

Selection and characterization of ricin toxin A-chain mutations in Saccharomyces cerevisiae.

PurposeIt has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss...Full Text Available

150

Role of the nac gene product in the nitrogen regulation of some NTR-regulated operons of Klebsiella aerogenes.

A DNA sequence encoding the A chain of ricin toxin (RTA) from the castor bean plant, Ricinus communis, was placed under GAL1 promoter control and transformed into Saccharomyces cerevisiae. Induction...Full Text Available

1989-02-01

151

Reconstruction of the complete human cytomegalovirus genome in a BAC reveals RL13 to be a potent inhibitor of replication

A positive, genetic selection against the activity of the nitrogen regulatory (NTR) system was used to isolate insertion mutations affecting nitrogen regulation in Klebsiella aerogenes. Two classes...Full Text Available

1990-12-01

152

Radiation-induced mutations at mouse hemoglobin loci

Human cytomegalovirus (HCMV) in clinical material cannot replicate efficiently in vitro until it has adapted by mutation. Consequently, wild-type HCMV differ fundamentally from the passaged strains...Full Text Available

2010-09-01

153

Pten Knockdown in vivo Increases Excitatory Drive onto Dentate Granule Cells

In experiments designed to detect new mutations affecting hemoglobin, we irradiated the male or female parent in reciprocal crosses of two mouse strains that differ in alleles at the hemoglobin (Hba, Hbb) loci as well as at five other specific loci. Offspring were analyzed for hemoglobin properties (electrophoretic pattern, solubility, crystal pattern), serum albumin differences, erythrocyte lysis, reticulocyte count, and external appearance. Five hemoglobin variants were found among the mutants. In three, the genetic contribution from the irradiated father was not expressed with regard to the #alpha#-chain; one carried a tandem duplication (the first known case in the mouse) involving Hbb; and one probably resulted from double nondisjunction of chromosome 7. The finding that major chromosome aberratios can mimic hemoglobin mutations indicates the need, in similar experiments, to follow F_1 screening with thorough cytogenetic analysis. The ...

154

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations

Some cases of autism spectrum disorder (ASD) have mutations in the lipid phosphatase, Pten (phosphatase and tensin homolog on chromosome 10). Tissue...Full Text Available

2011-03-16

155

Past, present, and future of mutagens in cooked foods.

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured...Full Text Available

2009-06-01

156

Neurotensin Receptor 1 Is Expressed in Gastrointestinal Stromal Tumors but Not in Interstitial Cells of Cajal

Mutation assay with Salmonella typhimurium enabled us to detect various types of mutagens in cooked foods. A series of mutagenic heterocyclic amines has been isolated and identified in broiled fish...Full Text Available

1986-08-01

157

Natural variation in life history and aging phenotypes is associated with mitochondrial DNA deletion frequency in Caenorhabditis briggsae

Gastrointestinal stromal tumors (GIST) are thought to derive from the interstitial cells of Cajal (ICC) or an ICC precursor. Oncogenic mutations of the KIT or PDGFRA receptor tyrosine kinases are present...Full Text Available

158

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

BackgroundMutations that impair mitochondrial functioning are associated with a variety of metabolic and age-related disorders. A barrier to rigorous tests of the role of mitochondrial...Full Text Available

159

Mutations affecting the development of the peripheral nervous system in Drosophila: a molecular screen for novel proteins.

We performed genome-wide homozygosity mapping in a large consanguineous family from Morocco and mapped the autosomal-recessive nonsyndromic hearing loss (ARNSHL) in this family to the DFNB79...Full Text Available

2010-03-12

160

Mutational Analysis of cis-Acting RNA Signals in Segment 7 of Influenza A Virus?

In our quest for novel genes required for the development of the embryonic peripheral nervous system (PNS), we have performed three genetic screens using MAb 22C10 as a marker of terminally differentiated...Full Text Available

2000-12-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

161

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa

The genomic viral RNA (vRNA) segments of influenza A virus contain specific packaging signals at their termini that overlap the coding regions. To further characterize cis-acting signals...Full Text Available

2008-12-01

162

Mapping of the transcription start site (TSS) and identification of SNPs in the bovine neuropeptide Y (NPY) gene

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies characterised ultimately by the loss of photoreceptor cells. We have recently identified a new gene (EYS) encoding...Full Text Available

2010-11-01

163

Loss of ?-III spectrin leads to Purkinje cell dysfunction recapitulating the behaviour and neuropathology of SCA5 in humans

BackgroundNeuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and...Full Text Available

164

Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population

Mutations in SPTBN2, the gene encoding β-III spectrin, cause spinocerebellar ataxia type 5 in humans (SCA5), a neurodegenerative disorder resulting in loss of motor...Full Text Available

2010-04-07

165

Investigation and prediction of the severity of p53 mutants using parameters from structural calculations

Dysregulation of the alternative pathway of complement activation, caused by mutations or polymorphisms in the genes encoding factor H, membrane co-factor protein, factor I or factor B, is associated...Full Text Available

2009-01-01

166

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.

A method has been developed to predict the effects of mutations in the p53 cancer suppressor gene. The new method uses novel parameters combined with previously established parameters. The most important...Full Text Available

2009-08-01

167

Inferring Stabilizing Mutations from Protein Phylogenies: Application to Influenza Hemagglutinin

The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most patients with metachromatic leukodystrophy have mutations in the gene...Full Text Available

1990-02-01

168

Identification of a new gene, molR, essential for utilization of molybdate by Escherichia coli.

One selection pressure shaping sequence evolution is the requirement that a protein fold with sufficient stability to perform its biological functions. We present...Full Text Available

2009-04-01

169

Identification of a Chemically Induced Point Mutation Mediating Herbicide Tolerance in Annual Medics (Medicago spp.)

A mutation in a new gene, molR, prevented the synthesis in Escherichia coli of molybdoenzymes, including the two formate dehydrogenase isoenzymes, nitrate reductase and trimethylamine-N-oxide reductase....Full Text Available

1990-04-01

170

ICC-MY coordinate smooth muscle electrical and mechanical activity in the murine small intestine

Background and AimsSulfonylurea (SU) herbicides are used extensively in cereal–livestock farming zones as effective and cheap herbicides with useful levels of residual activity....Full Text Available

2008-05-01

171

Highly Conserved Regimes of Neighbor-Base-Dependent Mutation Generated the Background Primary-Structural Heterogeneities along Vertebrate Chromosomes

BackgroundAnimals carrying genetic mutations have provided powerful insights into the role of interstitial cells of Cajal (ICC) in motility. One classic model is...Full Text Available

2010-05-01

172

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.

The content of guanine+cytosine varies markedly along the chromosomes of homeotherms and great effort has been devoted to studying this heterogeneity and its biological implications. Already...Full Text Available

173

Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria.

The DNA sequences were determined for the lipoprotein lipase (LPL) gene from five unrelated Japanese patients with familial LPL deficiency. The results demonstrated that all five patients are homozygotes...Full Text Available

1991-12-01

174

Genetic and cellular evidence of vascular inflammation in neurofibromin-deficient mice and humans

Phenylalanine hydroxylase was purified from crude extracts of human livers which show enzyme activity by usine two different methods: (a) affinity chromatography and (b) immunoprecipitation with an...Full Text Available

1979-08-01

175

Gene expression profiling of oxidative stress response of C. elegans aging defective AMPK mutants using massively parallel transcriptome sequencing

Neurofibromatosis type 1 (NF1) results from mutations in the NF1 tumor suppressor gene, which encodes the protein neurofibromin. NF1 patients display diverse clinical manifestations,...Full Text Available

2010-03-01

176

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries

BackgroundA strong association between stress resistance and longevity in multicellular organisms has been established as many mutations that extend lifespan also show increased...Full Text Available

177

Functional and Behavioral Restoration of Vision by Gene Therapy in the Guanylate Cyclase-1 (GC1) Knockout Mouse

There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries...Full Text Available

2008-07-01

178

FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis

BackgroundRecessive mutations in guanylate cyclase-1 (Gucy2d) are associated with severe, early onset Leber congenital amaurosis-1(LCA1). Gucy2d...Full Text Available

179

Exome sequencing identifies GRIN2A as frequently mutated in melanoma

Fibroblast growth factor (FGF) signaling is involved in skeletal development of the vertebrate. Gain-of-function mutations of FGF receptors (FGFR) cause craniosynostosis, premature fusion of the skull,...Full Text Available

2002-04-01

180

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency

The incidence of melanoma is increasing more than any other cancer, and knowledge of its genetic alterations is limited. To systematically analyze such alterations, we performed whole-exome...Full Text Available

2011-05-01

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181

EGFR Signaling Through an Akt-SREBP-1-Dependent, Rapamycin-Resistant Pathway Sensitizes Glioblastomas to Anti-Lipogenic Therapy

BackgroundNeurofibromatosis type 1 (NF1) is a common monogenic tumor-predisposition disorder that arises secondary to mutations in the tumor suppressor gene NF1....Full Text Available

182

E2f binding-deficient Rb1 protein suppresses prostate tumor progression in vivo

Glioblastoma, the most common malignant brain tumor, is among the most lethal and difficult cancers to treat. Although epidermal growth factor receptor (EGFR) mutations are frequent in glioblastoma,...Full Text Available

183

Dissecting the Genetic Components of Adaptation of Escherichia coli to the Mouse Gut

Mutational inactivation of the RB1 tumor suppressor gene initiates retinoblastoma and other human cancers. RB1 protein (pRb) restrains cell proliferation by binding...Full Text Available

2011-01-11

184

Developmental abnormalities and epimutations associated with DNA hypomethylation mutations.

While pleiotropic adaptive mutations are thought to be central for evolution, little is known on the downstream molecular effects allowing adaptation to complex ecologically relevant environments. Here...Full Text Available

2008-01-01

185

Detection of genetic mutations in repetitive DNA sequences in somatic human cells after low-dose irradiation; Nachweis genetischer Veraenderungen in repetitiven DNA-Sequenzen in somatischen menschlichen Zellen nach Bestrahlung im niedrigen Dosisbereich

A number of aberrant morphological phenotypes were noted during propagation of the Arabidopsis thaliana DNA hypomethylation mutant, ddm1, by repeated self-pollination. Onset of a spectrum of morphological...Full Text Available

1996-10-29

186

Construction of a novel bifunctional biogenic amine receptor by two point mutations of the H2-histamine receptor.

No abstract prepared

1998-03-01

187

Congenital woolly hair without P2RY5 mutation

BACKGROUND: H2-histamine receptors mediate a wide range of physiological functions extending from stimulation of gastric acid secretion to induction of human promyelocyte differentiation. We have previously...Full Text Available

1995-03-01

188

Characterization of a novel missense mutation on murine Pax3 through ENU mutagenesis.

Congenital woolly hair is a disorder with structural defects of the hair shafts. Curled hairs are noticed at birth or soon after birth and often improve with age. Some cases of woolly hairs are associated...Full Text Available

2009-01-01

189

COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia

N-ethyl-N-nitrosourea (ENU) mutagenesis has led to the elucidation of several regulator genes for melanocyte and skin development. Here we characterized a mutant from ENU mutagenesis with similar phenotype as that of Splotch mutant, including exencephaly, spina bifida and abnormal limbs in homozygotes as well as white belly spotting and occasionally loop-tail in heterozygotes. This novel mutant was named as Sp(xG). Through genome-wide linkage analysis in backcross progenies with microsatellite markers, the Sp(xG) was confined to a region between D1MIT415 and D1MIT7 on chromosome 1, where notable Pax3 gene was located. Direct sequencing revealed that Sp(xG) carried a nucleotide A894G missense transition in exon 6 of Pax3 gene that resulted in Asn to Asp substitution at amino acid 269 within the highly-conserved homeodomain (HD) DNA recognition module, which was the first point mutation found in this domain in mice. This N269D mutation impaired ...

2011-07-19

190

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene

Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available

2010-08-01

191

Antagonistic crosstalk between APC and HIF-1?

PurposeTo report the clinical, ophthalmic, and genetic characteristics for lattice corneal dystrophy type I (LCDI) in a Chilean family.MethodsSix...Full Text Available

192

Antagonistic Gcn5-Hda1 interactions revealed by mutations to the Anaphase Promoting Complex in yeast

Most colorectal cancers have mutations in the tumor suppressor APC. The best-understood function of APC is its participation in a protein complex that regulates the availability of β-catenin....Full Text Available

2011-05-15

193

An oncogenomics-based in vivo RNAi screen identifies tumor suppressors in liver cancer

BackgroundHistone post-translational modifications are critical for gene expression and cell viability. A broad spectrum of histone lysine residues have been identified in yeast...Full Text Available

194

Air pollution induces heritable DNA mutations

Cancers are highly heterogeneous and contain many passenger and driver mutations. To functionally identify tumor suppressor genes relevant to human cancer, we compiled pools of short harpin...Full Text Available

2008-11-28

195

Adenomatous Polyposis Coli and Hypoxia-inducible Factor-1? Have an Antagonistic Connection

Hundreds of thousands of people worldwide live or work in close proximity to steel mills. Integrated steel production generates chemical pollution containing compounds that can induce genetic damage...Full Text Available

2002-12-10

196

A piggyBac transposon-based genome-wide library of insertionally mutated Blm-deficient murine ES cells

The tumor suppressor adenomatous polyposis coli (APC) is mutated in the majority of colorectal cancers and is best known for its role as a scaffold in a Wnt-regulated protein complex that determines...Full Text Available

2010-11-01

197

A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (A{sup y}) mutation

Cultured mouse or human embryonic stem (ES) cells provide access to all of the genes required to elaborate the fundamental components and physiological systems of a mammalian cell. Chemical or insertional...Full Text Available

2009-04-01

198

A homozygous P86S mutation of the human glucagon receptor is associated with hyperglucagonemia, ? cell hyperplasia, and islet cell tumor

Lethal yellow (A{sup y}) is a mutation at the mouse agouti locus in chromosome 2 that causes a number of dominant pleiotropic effects, including a completely yellow coat color, obesity, an insulin-resistant type II diabetic condition, and an increased propensity to develop a variety of spontaneous and induced tumors. Additionally, homozygosity for A{sup y} results in preimplantation lethality, which terminates development by the blastocyst stage. The A{sup y} mutation is the result of a 170-kb deletion that removes all but the promoter and noncoding first exon of another gene called Raly, which lies in the same transcriptional orientation as agouti and maps 280 kb proximal to the 3{prime} end of the agouti gene. The authors present a model for the structure of the A{sub y} allele that can explain the dominant pleiotropic effects associated with this mutation, as well as the recessive lethality, which is unrelated to the ...

1994-03-29

199

A Point Mutation in a Domain of Gamma Interferon Receptor 1 Provokes Severe Immunodeficiency

ObjectiveThe goal of the study was to investigate the genetic and molecular basis of a novel syndrome of marked hyperglucagonemia and pancreatic α cell hyperplasia...Full Text Available

2009-11-01

200

A DNA transposon-based approach to validate oncogenic mutations in the mouse

Gamma interferon (IFN-γ) and the cellular responses induced by it are essential for controlling mycobacterial infections. Most patients bearing an IFN-γ receptor ligand-binding chain...Full Text Available

2001-01-01

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201

1,3-Butadiene: linking metabolism, dosimetry, and mutation induction.

Large-scale cancer genome projects will soon be able to sequence many cancer genomes to comprehensively identify genetic changes in human cancer. Genome-wide association studies have also identified...Full Text Available

2008-12-16

202

Linkage analysis in familial Angelman syndrome

There is increasing concern for the potential adverse health effects of human exposures to chemical mixtures. To better understand the complex interactions of chemicals within a mixture, it is essential...Full Text Available

1994-11-01

203

The Blood-Brain Barrier and Microvascular Water Exchange in Alzheimer's Disease

Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child, result in no phenotypic abnormality but, when transmitted from mother to child, cause AS. These mutations therefore behave neither as dominant nor as recessive mutations but, rather, show an imprinted mode of inheritance. The authors have analyzed two sibling pairs with AS and a larger family with four AS offspring of three sisters with several recently described microsatellite polymorphisms in the AS region. AS siblings inherited the same maternal alleles at the GABRB3 and GABRA5 loci, and the unaffected siblings of AS individuals inherited the other maternal alleles at these loci. In one of the AS sibling pairs, analysis of a recombination event indicates that the mutation responsible for AS is distal to locus D15S63. This result is consistent with a previously described ...

1993-07-01

204

Review: Interventional radiology in peripheral vascular disease

Alzheimer's disease (AD) is the most common form of dementia in the elderly. Although traditionally considered a disease of neurofibrillary tangles and amyloid plaques, structural and functional changes...Full Text Available

2011-01-01

205

Reduced sample sizes for atrophy outcomes in Alzheimer's disease trials: baseline adjustment

Peripheral vascular diseases (PVD) are referred to as diseases affecting the blood vessels other than the heart and the brain. Interventional endovascular treatment whenever feasible has become the...Full Text Available

2008-05-01

206

Olfactory copy number association with age at onset of Alzheimer disease

Cerebral atrophy rate is increasingly used as an outcome measure for Alzheimer's disease (AD) trials. We used the Alzheimer's disease Neuroimaging initiative (ADNI) dataset to assess if adjusting...Full Text Available

2010-08-01

207

Knockdown of Bicaudal C in Zebrafish (Danio rerio) Causes Cystic Kidneys: A Nonmammalian Model of Polycystic Kidney Disease

Objectives:Copy number variants (CNVs) have been recognized as a source of genetic variation that contributes to disease phenotypes. Alzheimer disease (AD) has high heritability...Full Text Available

2011-04-12

208

Inflammatory Bowel Disease in Children, an Evolving Problem in Kuwait

Polycystic kidney disease (PKD) is one of the leading causes of end-stage renal disease in humans and is characterized by progressive cyst formation, renal enlargement, and abnormal tubular development....Full Text Available

2010-04-01

209

Increased prevalence of antibodies to enteropathogenic Yersinia enterocolitica virulence proteins in relatives of patients with autoimmune thyroid disease

Background/Aims:Inflammatory bowel disease (IBD) was previously thought a rare disease among children in Kuwait since most diarrhea cases were attributed to infections....Full Text Available

2011-09-01

210

Evidence of linkage disequilibrium in the Spanish polycystic kidney disease I population.

Infections have been implicated in the pathogenesis of a number of autoimmune diseases, and Yersinia enterocolitica (YE) might play a role in the development of autoimmune thyroid disease...Full Text Available

2003-05-01

211

Evidence for Sub-Haplogroup H5 of Mitochondrial DNA as a Risk Factor for Late Onset Alzheimer's Disease

Forty-one Spanish families with polycystic kidney disease 1 (PKD1) were studied for evidence of linkage disequilibrium between the disease locus and six closely linked markers. Four of these loci--three...Full Text Available

1994-05-01

212

Estimating the incidence of coeliac disease with capture-recapture methods within four geographic areas in Italy.

BackgroundAlzheimer's Disease (AD) is the most common neurodegenerative disease and the leading cause of dementia among senile subjects. It has been proposed that AD can be caused...Full Text Available

213

Determinants of female sexual function in inflammatory bowel disease: a survey based cross-sectional analysis

STUDY OBJECTIVE: To estimate the incidence rate of newly diagnosed cases of coeliac disease in Italy. DESIGN: This was a descriptive study of coeliac disease incidence in the period 1990-91. SETTING:...Full Text Available

1996-06-01

214

Chronic Wasting Disease Prions in Elk Antler Velvet

BackgroundSexual function is impaired in women with inflammatory bowel disease (IBD) as compared to normal controls. We examined disease specific determinants of different aspects...Full Text Available

215

Cholesterol and Heart Disease: Current Concepts in Pathogenesis and Treatment

Chronic wasting disease (CWD) is a contagious, fatal prion disease of deer and elk that continues to emerge in new locations. To explore the means by which prions are transmitted with high efficiency...Full Text Available

2009-05-01

216

Aspirin Treatment of Mice Infected with Trypanosoma cruzi and Implications for the Pathogenesis of Chagas Disease

One of the modifiable risk factors associated with coronary heart disease (CHD) is hypercholesterolemia. This paper reviews the major plasma lipids and how they relate to coronary heart disease. Among...Full Text Available

1986-08-01

217

An investigation of enzootic Glasser's disease in a specific-pathogen-free grower-finisher facility using restriction endonuclease analysis

Chagas disease, caused by infection with Trypanosoma cruzi, is an important cause of cardiovascular disease. It is increasingly clear that parasite-derived prostaglandins potently modulate...Full Text Available

218

Alloxan-Induced Diabetes Triggers the Development of Periodontal Disease in Rats

Enzootic Glassers's disease was investigated to study the epidemiology of the disease strains on a farm where it presented a problem. Restriction endonuclease fingerprinting (REF) analysis technique...Full Text Available

1993-08-01

219

A non-radioactive dot-blot assay for transglutaminase activity

BackgroundPeriodontal disease in diabetic patients presents higher severity and prevalence; and increased severity of ligature-induced periodontal disease has been verified in diabetic...Full Text Available

220

American Journal of Kidney Diseases - Elsevier

Aberrant transglutaminase (TG) activity has been implicated in the pathology of numerous diseases including Huntington disease and Alzheimer disease. To fully characterize the role of TGs in...Full Text Available

2009-07-01

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221

Urine alkalization facilitates uric acid excretion

...American Journal of Kidney Diseases-The American Journal of Kidney Diseases (AJKD), the official journal of the National Kidney Foundation, is ... American Journal of Kidney Diseases - Elsevier Home Products User Resources About Us Support & Contact Elsevier Websites Advanced Product ...Search Browse Journals American Journal of Kidney Diseases American Journal of Kidney Diseases Official Journal of the National Kidney Foundation Additional Information Related Publications ...Article Tracking for Editors Reviewers Advertisers/Sponsors Advertisers Media Kit Societies National Kidney Foundation ISSN: 0272-6386 Imprint: SAUNDERS Actions Submit ...

222

The role of contagious disease in udder health

BackgroundIncrease in the incidence of hyperuricemia associated with gout as well as hypertension, renal diseases and cardiovascular diseases has been a public health concern. We...Full Text Available

223

T-bet controls severity of hypersensitivity pneumonitis

Contagious diseases are a threat to animal health and productivity, both nationally and at the farm level. This makes implementation of biosecurity measures to prevent their introduction and...Full Text Available

2009-10-01

224

Periodontal disease and spontaneous preterm birth: a case control study

Hypersensitivity Pneumonitis (HP) is an interstitial lung disease that develops following repeated exposure to inhaled environmental antigens. The disease is characterized by alveolitis, granuloma formation...Full Text Available

225

Percutaneous renal biopsy as an outpatient procedure.

BackgroundSeveral studies have suggested an association between periodontal disease and prematurity but this finding has not been consistently observed.MethodsCase...Full Text Available

226

PUTATIVE CSF PROTEIN BIOMARKER CANDIDATES FOR AMNESTIC MILD COGNITIVE IMPAIRMENT

Percutaneous renal biopsy (PRB) is a safe and effective tool in the diagnosis and management of renal disease. It is the gold standard for evaluating renal parenchymal disease. It is both useful for...Full Text Available

2004-09-01

227

Mitochondrial Dysfunction: The Road to Alpha-Synuclein Oligomerization in PD

The identification of individuals at risk for Alzheimer's disease (AD) is essential for the timely administration of treatment approaches aimed at slowing the onset or progression of the disease....Full Text Available

2010-03-01

228

Managing Pain Caused By Neurological Disease

While the etiology of Parkinson's disease remains largely elusive, there is accumulating evidence suggesting that mitochondrial dysfunction occurs prior to the onset of symptoms in Parkinson's disease....Full Text Available

229

Management of primary sclerosing cholangitis

Stabbing paroxysmal pain due to neurological disease can often be controlled by anticonvulsants, whereas steady burning pain is often responsive to tricyclic antidepressants, and to neuroleptics. Overuse...Full Text Available

1985-08-01

230

Immunomodulation of Autoimmune Arthritis by Herbal CAM

Primary sclerosing cholangitis (PSC) is a rare cholestatic liver disease with major morbidity and mortality. Therapeutic management is difficult, due to lack of conclusive data and individual disease...Full Text Available

2011-06-27

231

Gastric juice acidity in upper gastrointestinal diseases

Rheumatoid arthritis (RA) is a debilitating autoimmune disease of global prevalence. The disease is characterized by synovial inflammation leading to cartilage and bone damage. Most of the conventional...Full Text Available

2011-01-01

232

Gallbladder function and dynamics of bile flow in asymptomatic gallstone disease

AIM: To search the independent factors determining gastric juice acidity and to investigate the acidity of gastric juices in various benign and malignant upper gastrointestinal diseases.METHODS:...Full Text Available

2010-11-21

233

Endothelial Function, Inflammatory Disease Activity, and Bone and Cartilage Markers in Rheumatic Patients: The Influence of Antirheumatic Treatment

AIM: To investigate the effects of gallbladder stones on motor functions of the gallbladder and the dynamics of bile flow in asymptomatic gallstone disease.METHODS: Quantitative hepatobiliary...Full Text Available

2009-06-14

234

Chronic kidney disease in children: the global perspective

Rheumatoid Arthritis; Psoriatic Arthritis; Ankylosing Spondylitis; Endothelial Dysfunction; Inflammatory Disease Activity

2011-07-27

235

A mathematical model of bone remodeling dynamics for normal bone cell populations and myeloma bone disease

In contrast to the increasing availability of information pertaining to the care of children with chronic kidney disease (CKD) from large-scale observational and interventional studies, epidemiological...Full Text Available

2007-12-01

236

A Summary Risk Score for the Prediction of Alzheimer Disease in Elderly Persons

BackgroundMultiple myeloma is a hematologic malignancy associated with the development of a destructive osteolytic bone disease.ResultsMathematical...Full Text Available

237

Research work on mutation breeding in Egypt during the 1980s

ObjectiveTo develop a simple summary risk score for the prediction of Alzheimer disease in elderly persons based on their vascular risk profiles.DesignFull Text Available

2010-07-01

238

Production of Infectious Genotype 1b Virus Particles in Cell Culture and Impairment by Replication Enhancing Mutations

The research work carried out on mutation breeding in Egypt during the 1980s is summarized. Several mutations have been developed in bread wheat, maize, rice and barley. A higher yield, tolerance to salinity, shorter types and earliness were obtained after use of different mutagens and growth regulators. Great attention has been paid to the fababean and chickpea, particularly in improving their quality and quantity of protein, and their resistance to insect weevils such as Callosobruchus sp. Tolerance or resistance to broom rape has also been reported. Various grain legumes such as lentil, pea, cowpea, bean, fenugreek and lupin received some attention. Mutation work on fibre crops such as cotton, kenaf and flax has led to some promising results. Zero type, glandless and early maturing mutants were obtained in cotton, and early flowering, high yielding (fibre or oil) mutants in flax. Some attention has been given to oil ...

1990-06-18

239

Ionizing radiation-induced mutation of human cells with different DNA repair capacities

With the advent of subgenomic hepatitis C virus (HCV) replicons, studies of the intracellular steps of the viral replication cycle became possible. These RNAs are capable of self-amplification in cultured human hepatoma cells, but save for the genotype 2a isolate JFH-1, efficient replication of these HCV RNAs requires replication enhancing mutations (REMs), previously also called cell culture adaptive mutations. These mutations cluster primarily in the central region of non-structural protein 5A (NS5A), but may also reside in the NS3 helicase domain or at a distinct position in NS4B. Most efficient replication has been achieved by combining REMs residing in NS3 with distinct REMs located in NS4B or NS5A. However, in spite of efficient replication of HCV genomes containing such mutations, they do not support production of infectious virus particles. By using the genotype 1b isolate Con1, in this study we ...

2009-06-12

240

Detection of basepair substitution mutation at a frequency of 1 x 10(-7) by combining two genotypic selection methods, MutEx enrichment and allele-specific competitive blocker PCR.

We have observed significant differences in the response to ionizing radiation of two closely related human cell lines, and now compare the effects on these lines of both low and intermediate LET radiation. Compared to TK6, WTK1 has an enhanced X-ray survival, and is also more resistant to cell killing by {alpha}-particles. The hprt locus is more mutable in WTK1 than in TK6 by both X-rays and {alpha}-particles. WTK1 is also more mutable by {alpha}-particles than by X-rays at the hprt locus. X-ray-induced mutation at the heterozygous tk locus in WTK1 is about 25 fold higher than in TK6, while {alpha}-particle-induced mutation is nearly 50 fold higher at this locus. Also, the slowly growing tk- mutants, which comprise the majority of spontaneous and X-ray-induced tk- mutants of TK6, were not induced significantly by {alpha}-particles. Previously, we showed that TK6 has a reduced capacity for recombination compared with WTK1, and therefore, these ...

1994-12-31

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241

[The catamnestic assessment of the reliability of a pathochemical diagnostic test in the complex expertise of endogenous mental diseases].

The detection of rare mutations has many important applications, including risk assessment of drugs and chemicals, measuring environmental exposures to genotoxins, and cancer cell detection. A sensitive genotypic selection method has been developed that combines two different mutant allele selection techniques, MutEx enrichment and allele-specific competitive blocker PCR (ACB-PCR). This method was developed and evaluated for the detection of a CAA --> AAA mutation at codon 61 of the mouse H-ras gene. The MutEx enrichment is based on MutS binding to a mismatched basepair in heteroduplex DNA. The bound MutS protects the mutant allele from degradation during subsequent exonuclease treatment. ACB-PCR preferentially amplifies a mutant allele in a PCR reaction using a primer that has more mismatches to the wild-type allele than the mutant allele. By combining these two approaches, the codon 61 mutation was detected at mutant ...

1998-01-01

242

Two-year clinical outcome after carvedilol-loaded stent implantation in patients with coronary artery disease.

PMID:7900316

1994-12-01

243

Spatial Risk Assessments Based on Vector-Borne Disease Epidemiologic Data: Importance of Scale for West Nile Virus Disease in Colorado

Full Text Available

2011-03-01

244

Protein-protein interactions and structural analysis of citrus proteins involved in transcriptional control during citrus canker disease

We used epidemiologic data for human West Nile virus (WNV) disease in Colorado from 2003 and 2007 to determine 1) the degree to which estimates of vector-borne disease occurrence is influenced by spatial...Full Text Available

2010-05-01

245

Morphologic Assessment of Corpus Callosum in the Patient of Alzheimer Disease using Magnetic Resonance Imaging

No abstract prepared.

2010-07-01

246

Full Text Available

2009-12-01

247

Monovision

Magnetic resonance imaging in neurologic diseases--comparison with computed tomography.

... Precautions Comprehensive Eye and Vision Examination Nutrition Lutein Antioxidants & Age-Related Eye Disease Lutein and Zeaxanthin - Eye- ...

248

Localization of "2"0"3Pb-chloride in myocardial infarction

Full Text Available

1987-03-01

249

Epidemiological and clinical features of 1,149 persons with Lyme disease identified by laboratory-based surveillance in Connecticut.

... AND NUCLEAR MEDICINE biological localization cardiovascular diseases

250

Laboratory-based surveillance of Lyme disease in Connecticut during 1984 and 1985 identified 3,098 persons with suspected Lyme disease; 1,149 were defined as cases. Lyme disease incidence in Connecticut...Full Text Available

1989-05-01

251

Crohn's Disease

Control of Bakanae Disease of Rice by Seed Soaking into the Mixed Solution of Procholraz and Fludioxnil

... their entire colon removed in an operation called colostomy. A colostomy, which reroutes the intestines to an opening in ...

252

Assessment of Priority Order Using the Chemical to Cause to Generate Occupational Diseases and Classification by GHS

Full Text Available

2009-08-01

253

Assessing a Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) with 7T MR Imaging.

Full Text Available

2010-06-01

254

An In-Hospital Family Member Cardiopulmonary Resuscitation (CPR) Education Program

Full Text Available

2010-03-01

255

A trial of the quantitative bone scintigraphy in bone metabolic disease

Cardiac Arrest; Coronary Disease; Cardiovascular Risk Factors

2010-12-13

256

A plantar flexion device exercise programme for patients with peripheral arterial disease: a randomised prospective feasibility study.

Japanese (Jan 1986). Japan Taniguchi, Yoshiyuki Torizumi, Kazutami Katu,

257

28 mm Ceramic-on-Ceramic Acetabular Cup Total Hip Replacement Study

PMID:21820543

2010-10-23

258

Subclinical interstitial lung involvement in rheumatic diseases. Correlations of high-resolution Computed Tomography patterns with functional and cytologic findings

Joint Diseases

2011-03-11

259

Case report 403: Extra-mammary Paget disease of the skin with disseminated skeletal metastases

The aims of this study were to quantify the severity and extent of subclinical interstitial lung disease as depicted on HRCT and to study the relationship between the patterns of lung disease quantified by HRCT and the functional parameters and bronchoalveolar lavage findings in patients with rheumatic diseases. The results confirm that HRCT is a sensitive tool in detecting interstitial lung disease in patients with rheumatic diseases with no signs and symptoms of pulmonary involvement. The relationship between the different HRCT patterns and bronchoalveolar lavage cell profiles can identify patients at higher risk of developing irreversible lung fibrosis. A long-term, prospective follow-up study is needed to determine whether these patients will develop over pulmonary disease.

1999-01-01

260

Effects of soil pH on rhizoctonia damping-off of sugar beet and disease suppression induced by soil amendment with crop residues

The case is presented of a 64-year-old man who complained on admission of discomfort in the right shoulder at the time of excision of a large section of the axillary skin which contained extra-mammary Paget disease. Shortly thereafter, radiological studies of the humerus and scapula showed obvious malignant disease which proved to be metastatic upon biopsy of the humerus and pathological studies of the excised area of extra-mammary Paget disease in the axillary skin. The patient died twelve months after the diagnosis was established with widespread metastatic disease. The literature on the subject was reviewed and it was demonstrated that metastases to the skeleton from lesions of the skin are relatively rare. This case is exceptional because of the rapid fatal course and the extent of metastatic disease originating in extra-mammary Paget disease of the axillary ...

1986-11-01

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261

British Library Electronic Table of Contents (United Kingdom)

Effects of soil pH on damping-off of sugar beet by R. solani (AG2-2) and soil suppressiveness against the disease were studied by comparing disease incidences in pasteurized versus non-pasteurized, infested soils. Soil pH was correlated neither to disease incidence in five soils ranging from pH?4.5 to 7.2 nor to indigenous disease suppressiveness, the difference in disease incidences between non-treated soil and its pasteurized counterpart. When an alkaline soil was acidified with H2SO4, disease suppression markedly declined, increasing disease incidence in the non-pasteurized soil. Inversely, disease suppression was enhanced when an acidic soil was neutralized by adding Ca(OH)2. Soil amendment with dried peanut plant residue suppressed the disease in two pasteurized, near-neutral soils, l...

2011-01-01

262

Homology among tet determinants in conjugative elements of streptococci

Hepatic aflatoxin B1-DNA adducts and TP53 mutations in patients with hepatocellular carcinoma despite low exposure to aflatoxin B1 in southern Japan

A mutation to tetracycline sensitivity in a resistant strain of Streptococcus pneumoniae was shown by several criteria to be due to a point mutation in the conjugative o(cat-tet) element found in the chromosomes of strains derived from BM6001, a clinical strain resistant to tetracycline and chloramphenicol. Strains carrying the mutation were transformed back to tetracycline resistance with the high efficiency of a point marker by donor deoxyribonucleic acids from its ancestral strain and from nine other clinical isolates of pneumococcus and by deoxyribonucleic acids from Group D Streptococcus faecalis and Group B Streptococcus agalactiae strains that also carry conjugative tet elements in their chromosomes. It was not transformed to resistance by tet plasmid deoxyribonucleic acids from either gram-negative or gram-positive species, except for one that carried transposon TN916, the conjugative tet element present in the ...

1981-10-01

263

British Library Electronic Table of Contents (United Kingdom)

Abstract Background & aims: Hepatitis B or C virus infection is considered to be the main cause of hepatocellular carcinoma (HCC) in Japan. Aflatoxin B1 (AFB1) is a carcinogen associated with HCC in regions with high exposure. Mutations in codon 249, exon 7 are a hallmark of AFB1 exposure. Therefore, to clarify the role of AFB1 in hepatocarcinogenesis, we examined AFB1-DNA in liver tissue and sequenced TP53 in Japanese patients with HCC. Methods: Hepatocyte AFB1-DNA adducts were determined immunohistochemically and direct sequencing of TP53 was done to determine mutations in 188 of 279 patients who underwent hepatic resection for HCC. We assessed hepatitis C virus antibodies (HCV Ab) and HBSAg expression; patients without either were defined as having non-B non-C hepatocellular carcinoma (...

2011-01-01

264

Integrated disease management of ascochyta blight in pulse crops

British Library Electronic Table of Contents (United Kingdom)

Ascochyta blight causes significant yield loss in pulse crops worldwide. Integrated disease management is essential to take advantage of cultivars with partial resistance to this disease. The most effective practices, established by decades of research, use a combination of disease-free seed, destruction or avoidance of inoculum sources, manipulation of sowing dates, seed and foliar fungicides, and cultivars with improved resistance. An understanding of the pathosystems and the inter-relationship between host, pathogen and the environment is essential to be able to make correct decisions for disease control without compromising the agronomic or economic ideal. For individual pathosystems, some components of the integrated management principles may need to be given greater consideration tha...

2007-01-01

265

An ELISA-based high throughput protein truncation test for inherited breast cancer

Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome

IntroductionBreast cancer is the most diagnosed and second leading cause of cancer deaths in the U.S. female population. An estimated 5 to 10 percent of all breast cancers are inherited, caused by mutations in the breast cancer susceptibility genes (BRCA1/2). As many as 90% of all mutations are nonsense mutations, causing a truncated polypeptide product. A popular and low cost method of mutation detection has been the protein truncation test (PTT), where target regions of BRCA1/2 are PCR amplified, transcribed/translated in a cell-free protein synthesis system and analyzed for truncated polypeptides by sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) and autoradiography. We previously reported a novel High Throughput Solid-Phase PTT (HTS-PTT) based on an enzyme-linked immunosorbent assay (ELISA) format that eliminates the need for radioactivity, SDS-PAGE and subjective interpretation ...

2010-10-04

266

Studies of human mutation rates

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic ''cylindrical-shape'' thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder. (orig.)

2006-09-01

267

Somatic mutations detected by immunofluorescence and flow cytometry

November 1989, marked the beginning of a new three-year cycle of DOE grant support, in connection with which the program underwent a major reorganization. This document presents the progress on the three objectives of the present program which are: to isolate by the technique of two-dimensional polyacrylamide gel electrophoresis (2-D PAGE), proteins of special interest because of the relative mutability of the corresponding gene, establish the identity of the protein, and, for selected proteins, move to a characterization of the corresponding gene; to develop a more efficient approach, based on 2-D PAGE, for the detection of variants in DNA, with special reference to the identification of mutations in the parents of the individual whose DNA is being examined; and, to continue an effective interface with the genetic studies on the children of atomic bomb survivors in Japan, with reference to both the planning and implementation of new studies at the molecular level.

1990-01-01

268

One-step RNA pathogen detection with reverse transcriptase activity of a mutated thermostable Thermus aquaticus DNA polymerase

We have at hand the tools for development of both a single amino acid substitution and a gene loss type assay for somatic cell mutations in human red cells. We are close to being able to assess the assays as possible means for screening the human population for individuals who may be a risk of acquiring abnormally high frequencies of mutant cells. The cause for such a high frequency of mutant cells could be a prior exposure of the individual to large amount of mutagen, or it could indicate a member of a vulnerable subpopulation that may have poor DNA repair systems. Either of these cases could well be an indication that the particular individual is at high risk that exposure to mutagens could lead to potential pathology. In the near future we expect to determine the reliability of the assays and to perform experiments to confirm the validity of flow cytometry in measuring real somatic mutagenic events that occur in vivo. (orig./AJ).

269

British Library Electronic Table of Contents (United Kingdom)

We describe the cloning and characterization of a mutated thermostable DNA polymerase from Thermus aquaticus (Taq) that exhibits an increased reverse transcriptase activity and is therefore designated for one-step PCR pathogen detection using established real-time detection methods. We demonstrate that this Taq polymerase mutant (Taq M1) has similar PCR sensitivity and nuclease activity as the respective Taq wild-type DNA polymerase. In addition, and in marked contrast to the wild-type, Taq M1 exhibits a significantly increased reverse transcriptase activity especially at high temperatures (>60degreeC). RNA generally hosts highly stable secondary structure motifs, such as hairpins and G-quadruplexes, which complicate, or in the worst case obviate, reverse transcription (RT). Thus, RT at hi...

2010-01-01

270

Mutations at the cysteine codons of the recA gene of Escherichia coli

Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene.

Each of the three cysteine residues in the Escherichia coli RecA protein was replaced with a number of other amino acids. To do this, each cysteine codon was first converted to a chain-terminating amber codon by oligonucleotide-directed mutagenesis. These amber mutants were then either assayed for function in different suppressor strains or reverted by a second round of mutagenesis with oligonucleotides that had random sequences at the amber codon. Thirty-three different amino acid substitutions were obtained. Mutants were tested for three functions of RecA: survival following UV irradiation, homologous recombination, and induction of the SOS response. It was found that although none of the cysteines is essential for activity, mutations at each of these positions can affect one or more of the activities of RecA, depending on the particular amino acid substitution. In addition, the cysteine at position 116 appears to be involved in the RecA-promoted cleavage of the ...

271

Detection of the first gross CDC73 germline deletion in an HPT-JT syndrome family

We developed mice with germline endogenous expression of oncogenic Hras to study effects on development and mechanisms of tumor initiation. They had high perinatal mortality, abnormal cranial dimensions, defective dental ameloblasts, and nasal septal deviation, consistent with some of the features of human Costello syndrome. These mice developed papillomas and angiosarcomas, which were associated with Hras(G12V) allelic imbalance and augmented Hras signaling. Endogenous expression of Hras(G12V) was also associated with a higher mutation rate in vivo. Tumor initiation by Hras(G12V) likely requires augmentation of signal output, which in papillomas and angiosarcomas is achieved via increased Hras-gene copy number, which may be favored by a higher mutation frequency in cells expressing the oncoprotein. PMID:19416908

2009-04-29

272

British Library Electronic Table of Contents (United Kingdom)

Abstract Hereditary primary hyperparathyroidism (HPT) may develop as a solitary endocrinopathy (FIHP) or as part of multiple endocrine neoplasia Type 1, multiple endocrine neoplasia Type 2A, or hereditary HPT-jaw tumor syndrome. Inactivating germline mutations of the tumor suppressor gene CDC73 account for 14 and 50% of all FIHP and HPT-JT patients, respectively, and have also been found in almost 20% of apparently sporadic parathyroid carcinoma patients. Although more than 60 independent germline mutations have been described, to date no rearrangement affecting the CDC73 locus has been identified. By means of multiplex-PCR we found a large germline deletion affecting the whole gene in a two-generation HPT-JT family. Subsequently array-CGH and specific PCR analysis determined that the muta...

2011-01-01

273

Amino acid substitution: its use in detection and analysis of genetic variants

APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men: results of a cross-sectional study

Techniques of chemical analysis, amino acid sequencing and autoradiography are being used to study the frequency of incorporation of normally noncoded amino acids into hemoglobins and seminal fluid proteins. We are studying, by the sequencing of radiolabeled proteins followed by the recovery of ["3H] isoleucine phenylthiohydantoin by high-performance liquid chromatography, the frequency at which normally noncoded isoleucine is incorporated into hemoglobin because of base-substitution mutations versus translational errors. Irradiation increases the isoleucine content of human hemoglobin and the frequency of substitution of isoleucine for specific amino acids in rabbit hemoglobin. Studies to date indicate that these techniques have been developed sufficiently for initial analysis of the potential of drugs and environmental pollutants to induce base-substitution mutations in mammalian somatic cells.

274

British Library Electronic Table of Contents (United Kingdom)

Background The purpose of this study was (a) to evaluate the association between cigarette smoking and the prevalence of distal colorectal polyps and adenocarcinoma and (b) to analyse genetic alterations representing different molecular pathways of the colorectal carcinogenesis. Methods A total of 623 asymptomatic male (mean age: 53 years; 50?65) car factory workers were included. Information on smoking habits and other lifestyle factors were collected followed by a 60 cm colonoscopy. APC and KRAS mutations and microsatellite status were determined in colorectal lesions (colorectal carcinoma (CRC), hyperplastic (HP) and adenomatous polyps (AP)). Data were analysed using unconditional multiple logistic regression models. Results Smokers had a higher prevalence of AP (OR 2.1; 95% CI 1.2?3.6;...

2011-01-01

275

Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease

British Library Electronic Table of Contents (United Kingdom)

Meningococcal disease is an infection caused by Neisseria meningitidis. Genetic factors contribute to host susceptibility and progression to disease, but the genes responsible for disease development are largely unknown. We report here a genome-wide association study for host susceptibility to meningococcal disease using 475 individuals with meningococcal disease (cases) and 4,703 population controls from the UK. We performed, in Western European and South European cohorts (consisting of 968 cases and 1,376 controls), two replication studies for the most significant SNPs. A cluster of complement factor SNPs replicated independently in both cohorts, including SNPs within complement factor H (CFH) (rs1065489 (p.936D

2010-01-01

276

Clinical trials validate the severity of persistent Lyme disease symptoms

British Library Electronic Table of Contents (United Kingdom)

SummaryBackground Persistent Lyme Disease Symptoms (PLDS) have included fatigue, headaches, poor concentration and memory, lightheadedness, joint pain, and mood disturbances. Evidence-based guidelines committees disagree over the severity of PLDS. The 2004 International Lyme and Associated Diseases Society (ILADS) concluded that PLDS are severe. The 2006 Infectious Disease Society of America (IDSA) guidelines committee concluded that PLDS are nothing more than the "aches and pains of daily living" and an ad hoc International Lyme group concluded that PLDS are "symptoms common in persons who have never had Lyme disease." Hypothesis Clinical trials validate the severity of persistent Lyme disease symptoms. Evaluation of the Hypothesis There are 22 standardized instruments used to measure the...

2009-01-01

277

Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

Signal transduction pathway controlling synthesis of a class of degradative enzymes in Bacillus subtilis: expression of the regulatory genes and analysis of mutations in degS and degU.

Targeted genome capture combined with next-generation sequencing was used to analyze 2.9 Mb of the DFNB79 interval on chromosome 9q34.3, which includes 108 candidate genes. Genomic...Full Text Available

2010-03-12

278

Relationship between O6-alkylguanine-DNA alkyltransferase activity and N-methyl-N'-nitro-N-nitrosoguanidine-induced mutation, transformation, and cytotoxicity in C3H/10T1/2 cells expressing exogenous alkyltransferase genes.

The rates of synthesis of a class of both secreted and intracellular degradative enzymes in Bacillus subtilis are controlled by a signal transduction pathway defined by at least four regulatory genes:...Full Text Available

1990-02-01

279

Radiation accidents in the Southern Urals (1949-1967) and human genome damage.

While a great deal of evidence has directly implicated the importance of O6-alkylation of guanine in the mutagenicity of alkylating agents, evidence demonstrating the oncogenic potential of this lesion...Full Text Available

1992-12-01

280

Prediction of conformational changes by single mutation in the hepatitis B virus surface antigen (HBsAg) identified in HBsAg-negative blood donors

A series of radioactive catastrophes (from 1948 to 1967) in the Southern Urals in the USSR led to intensive environmental contamination. Radioactive wastes were dispersed over the 20000 km(2) territory of four provinces-Chelyabinsk, Sverdlovsk, Tyumen' and Kurgan-due to the activity of the military facility that was built in 1948 for the production of nuclear bomb plutonium. The results of 50 years of investigations into the consequences of these disasters allow a general picture of the events that occurred to be reconstructed and allow the medical consequences of the irradiation of about half a million residents to be depicted. However, due to the atmosphere of secrecy and inadequate medical procedures, the results of medical studies of radiation victims are scant. The current protocols present a unique opportunity to study the DNA damage at the nucleotide resolution level in the genome of inhabitants of the given region, who presumably received chronic doses of irradiation. Studies ...

2002-11-01

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281

Mutations at the accommodation gate of the ribosome impair RF2-dependent translation termination

BackgroundSelection of hepatitis B virus (HBV) by host immunity has been suggested to give rise to variants with amino acid substitutions at or around the 'a' determinant...Full Text Available

282

Mutations Affecting Motifs of Unknown Function in the Central Domain of Nitrogen Regulatory Protein C

During protein synthesis, aminoacyl-tRNA (aa-tRNA) and release factors 1 and 2 (RF1 and RF2) have to bind at the catalytic center of the ribosome on the 50S subunit where they take part in peptide bond...Full Text Available

2010-09-01

283

Mutational Analysis of the Carboxy-Terminal (YGX)₄ Repeat Domain of CpsD, an Autophosphorylating Tyrosine Kinase Required for Capsule Biosynthesis in Streptococcus pneumoniae

The positive control function of the bacterial enhancer-binding protein NtrC resides in its central domain, which is highly conserved among activators of ς⁵⁴ holoenzyme. Previous...Full Text Available

1999-09-01

284

Molecular characterization of cap3A, a gene from the operon required for the synthesis of the capsule of Streptococcus pneumoniae type 3: sequencing of mutations responsible for the unencapsulated phenotype and localization of the capsular cluster on the pneumococcal chromosome.

In Streptococcus pneumoniae, CpsB, CpsC, and CpsD are essential for encapsulation, and mutants containing deletions of cpsB, cpsC, or cpsD...Full Text Available

2003-05-01

285

Mechanism of radiation induced carcinogenesis: does a threshold exist?

The complete nucleotide sequence of the cap3A gene of Streptococcus pneumoniae, which is directly responsible for the transformation of some unencapsulated, serotype 3 mutants to the encapsulated phenotype,...Full Text Available

1994-10-01

286

Induced mutation in Lupinus mutabilis sweet in Peru

Epidemiological studies will not solve the shape of the dose effect curve for stochastic effects in the low dose range. Unicellular processes are necessary for the primary processes so that no threshold dose exists. This is evident for somatic and genetic mutations. Not clearly solved is this question for the complex carcinogenesis. These processes develop with manifold interacting molecular and cellular steps. (orig.).

1996-10-23

287

High yielding mutants in sesamum

Mutagenesis of Lupinus mutabilis was started at the UNA LM (Peru) to obtain mutants with low alkaloid content and early germination. Varieties SCG 25 and Lib 020 were irradiated with gamma radiation. The optimum dose for the SCG 25 variety was 15 Krad and for Lib 020 15 to 20 Krad. The relation between the plant height and radiation dose fits the quadratic polynomial model.

1984-04-01

288

Handling boundary constraints for numerical optimization by particle swarm flying in periodic search space

Mutation breeding in one of the cultigens TMV-5 in Sesamum is undertaken with 5 kr, 10 kr, 15 kr, 20 kr, 60 kr and 80 kr, dosages of gamma-rays. 60 kr and 80 kr dosages were found to be lethal from the complete failure of seed germination. The mutagen had a heterotic effect on the different characters and the promising variants obtained in this programme are proposed to be maintained by pureline breeding for their possible release as new varieties. (author).

289

CERN Document Server

The periodic mode is analyzed together with two conventional boundary handling modes for particle swarm. By providing an infinite space that comprises periodic copies of original search space, it avoids possible disorganizing of particle swarm that is induced by the undesired mutations at the boundary. The results on benchmark functions show that particle swarm with periodic mode is capable of improving the search performance significantly, by compared with that of conventional modes and other algorithms.

2005-01-01

290

Genetic and somatic effects in animals maintained on tritiated water

Gene silencing induced by oxidative DNA base damage: association with local decrease of histone H4 acetylation in the promoter region

The possible genetic (dominant lethal mutations (DLM) and cytogenetic changes in the regenerating liver) and somatic (hematopoietic stem cell changes, growth and nonspecific life time shortening) effects in mice maintained on tritiated water (HTO) over two generations was investigated. Results to date are summarized. (ACR)

1981-01-01

291

Evolution of Hepatitis B Virus in a Chronic HBV-Infected Patient over 2 Years

Oxidized DNA bases, particularly 7,8-dihydro-8-oxoguanine (8-oxoG), are endogenously generated in cells, being a cause of carcinogenic mutations and possibly interfering with gene expression. We found...Full Text Available

2010-07-01

292

Evaluation of radiation induced sesame mutants as affected by some micro nutrients

Mutations in full-length HBV isolates obtained from a chronic HBV-infected patient were evaluated at three time points: 1 day, 6 months, and 31 months. While 5 nucleotides variation, and an 18 bp...Full Text Available

2011-01-01

293

Ephrin B1 Regulates Bone Marrow Stromal Cell Differentiation and Bone Formation by Influencing TAZ Transactivation via Complex Formation with NHERF1?

Tow experiments were carried out in 1981 and 1982 growth seasons at the greenhouse of the department of agriculture for soils and water researches, atomic energy authority, at inshas, to investigate the responses of two mutation derived lines of sesame and the local cultivar giza 25 to the application of micro nutrients. The possible effect of radiation on germination and growth of sesame seed was also studied in a separate experiment conducted in 1985 season, at inshas.

294

Effect of mutations in HNF-1#alpha# and HNF-1#beta# on the transcriptional regulation of human sucrase-isomaltase in Caco-2 cells

Mutations of ephrin B1 in humans result in craniofrontonasal syndrome. Because little is known of the role and mechanism of action of ephrin B1 in bone, we examined the function of osteoblast-produced...Full Text Available

2010-02-01

295

Disruption of the ATP-binding Cassette B7 (ABTM-1/ABCB7) Induces Oxidative Stress and Premature Cell Death in Caenorhabditis elegans*

Mutations in transcription factors hepatocyte nuclear factors (HNF)-1#alpha# and HNF-1#beta# cause maturity-onset diabetes of the young (MODY) types 3 and 5, respectively. HNF-1#alpha# and HNF-1#beta# mutations are well studied in some tissues, but the mechanism by which HNF-1#alpha# and HNF-1#beta# mutations affect sucrase-isomaltase (SI) transcription in the small intestine is unclear. We studied the effects of 13 HNF-1#alpha# mutants and 2 HNF-1#beta# mutants on human SI gene transcription, which were identified in subjects with MODY3 and MODY5, respectively. Transactivation activity of 11 HNF-1#alpha# and 2 HNF-1#beta# mutants was significantly lower than that of wild (wt)-HNF-1#alpha# and wt-HNF-1#beta#. Furthermore, in co-expression studies with mutant (mu)-HNF-1#alpha#/ wt-HNF-1#beta# and wt-HNF-1#alpha#/mu-HNF-1#beta#, the combination of mu-HNF-1#alpha# (P379fsdelCT and T539fsdelC)/wt-HNF-1#beta# impaired SI ...

2004-12-03

296

Development of radiological emergency preparedness technology

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare inherited disorder characterized by mild anemia and ataxia. XLSA/A is caused by mutations in the ABCB7 gene, which encodes...Full Text Available

2011-06-17

297

Deep short-read sequencing of chromosome 17 from the mouse strains A/J and CAST/Ei identifies significant germline variation and candidate genes that regulate liver triglyceride levels

Large-scale field tracer experiments have been conducted on Ulchin, Wolsung and Daeduk sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear sites. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. both processes, of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of Biological research for the radiation protection had contained the search of biological microanalytic methods for assessing the health effect by {gamma}-radiation and toxic ...

2000-04-01

298

Comparison of the genetic effects of equimolar doses of ENU and MNU: While the chemicals differ dramatically in their mutagenicity in stem-cell spermatogonia, both elicit very high mutation rates in differentiating spermatogonia

Genome sequences are essential tools for comparative and mutational analyses. Here we present the short read sequence of mouse chromosome 17 from the Mus musculus domesticus derived...Full Text Available

2009-01-01

299

Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function

Mutagenic, reproductive, and toxicity effects of two closely related chemicals, ethylnitrosourea (ENU) and methylnitrosourea (MNU), were compared at equimolar and near-equimolar doses in the...Full Text Available

2007-03-01

300

Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available

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301

Two Proline-Rich Nuclear Localization Signals in the Amino- and Carboxyl-Terminal Regions of the Borna Disease Virus Phosphoprotein

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%....Full Text Available

302

Tumor Necrosis Factor-? and Muc2 Mucin Play Major Roles in Disease Onset and Progression in Dextran Sodium Sulphate-Induced Colitis

Borna disease virus (BDV) uses a unique strategy of replication and transcription which takes place in the nucleus, unlike other known, nonsegmented, negative-stranded RNA viruses of animal origin....Full Text Available

1998-12-01

303

The use of advanced tracking technologies for the analysis of mobility in Alzheimer's disease and related cognitive diseases

The sequential events and the inflammatory mediators that characterize disease onset and progression of ulcerative colitis (UC) are not well known. In this study, we evaluated the early pathologic events...Full Text Available

304

The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: Implication for Krabbe Disease

BackgroundOne of the more common behavioral manifestations of dementia-related disorders is severe problems with out-of-home mobility. Various efforts have been attempted to attain...Full Text Available

305

The relationship between herd level disease incidence and a return over feed index in Ontario dairy herds

Krabbe disease (KD) is an inherited neurological disorder caused by the deficiency of galactocerebrosidase activity resulting in accumulation of psychosine, which leads to energy depletion,...Full Text Available

2008-06-01

306

The costs of hospitalization in patients with acute exacerbation of chronic obstructive pulmonary disease

The objective of the current research was to examine the association of herd level disease incidence with the return over feed (ROF) (milk income minus feed cost) herd profit index offered through Canwest...Full Text Available

2006-08-01

307

The Viral Replication Complex Is Associated with the Virulence of Newcastle Disease Virus?

Introduction:Chronic obstructive pulmonary disease (COPD) is a major public health problem. It imparts a substantial economic burden on individuals and society. Acute exacerbations...Full Text Available

308

The Role of an Online Community for People With a Rare Disease: Content Analysis of Messages Posted on a Primary Biliary Cirrhosis Mailinglist

Virulent strains of Newcastle disease virus ([NDV] also known as avian paramyxovirus type 1) can be discriminated from low-virulence strains by the presence of multiple basic amino acid residues at...Full Text Available

2010-10-01

309

The Burden of Common Infectious Disease Syndromes at the Clinic and Household Level from Population-Based Surveillance in Rural and Urban Kenya

BackgroundThis study focuses on the role of an Internet-based group for people who have an autoimmune liver disease, primary biliary cirrhosis. Primary biliary...Full Text Available

310

The Association of Alcohol and Alcohol Metabolizing Gene Variants with Diabetes and Coronary Heart Disease Risk Factors in a White Population

BackgroundCharacterizing infectious disease burden in Africa is important for prioritizing and targeting limited resources for curative and preventive services and monitoring the...Full Text Available

311

Temporal Correlations between Tick Abundance and Prevalence of Ticks Infected with Borrelia burgdorferi and Increasing Incidence of Lyme Disease

BackgroundEpidemiological studies have shown a J- or U-shaped relation between alcohol and type 2 diabetes and coronary heart disease (CHD). The underlying mechanisms are not clear....Full Text Available

312

Symptom Burden, Depression, and Quality of Life in Chronic and End-Stage Kidney Disease

The abundance of host-seeking Ixodes scapularis nymphs, the principal vector for the Lyme disease agent, Borrelia burgdorferi, in Old Lyme, Lyme, and East Haddam, Connecticut,...Full Text Available

1998-05-01

313

Sugarcane Rust Inoculations

Background and objectives: While many patients with end-stage renal disease (ESRD) have impaired physical and psychologic well-being, less is known about these health domains in patients with advanced...Full Text Available

2009-06-01

314

Status of rheumatic heart disease in rural Pakistan

Sugarcane rusts, brown (caused by Puccinia melanocephala) and orange (caused by P. kuehnii), are agronomically important diseases in Florida. Cultivar resistance is the best means of managing these diseases. Unfortunately, natural infection of brown rust is not always efficient in determining resist...

315

Spatial Re-Establishment Dynamics of Local Populations of Vectors of Chagas Disease

Objectives: To determine the community based prevalence of rheumatic heart disease (RHD) in the rural population of the district of Rahim Yaar Khan in Pakistan.Subjects...Full Text Available

2004-04-01

316

Sleep and Fatigue Symptoms in Children and Adolescents With CKD: A Cross-sectional Analysis From the Chronic Kidney Disease in Children (CKiD) Study

BackgroundPrevention of Chagas disease depends mainly on control of the insect vectors that transmit infection. Unfortunately, the vectors have been resurgent in some areas. It is...Full Text Available

317

Sexually transmitted diseases: meeting the 1990 objectives--a challenge for the 1980s.

BackgroundAlthough symptoms of sleepiness and fatigue are common among adults with Chronic Kidney Disease (CKD), little is known about the prevalence of these symptoms...Full Text Available

2010-02-01

318

Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.

Sexually transmitted diseases (STDs) represent a major public health problem in the country, cause patients enormous suffering, and cost the nation billions of dollars annually. Demographic, sociological,...Full Text Available

1982-09-01

319

Reliability and Validity of an Internet-based Questionnaire Measuring Lifetime Physical Activity

Schindler disease is a recently recognized infantile neuroaxonal dystrophy resulting from the deficient activity of the lysosomal hydrolase, alpha-N-acetylgalctosaminidase (alpha-GalNAc). The recent...Full Text Available

1990-11-01

320

Radiation therapy alone versus radiation therapy and chemotherapy in the management of Hodgkin's disease.

Lifetime exposure to physical activity is an important construct for evaluating associations between physical activity and disease outcomes, given the long induction periods in many chronic diseases....Full Text Available

2010-11-15

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

321

Putative Biomarkers and Targets of Estrogen Receptor Negative Human Breast Cancer

Forty-four patients with histologically proven Hodgkin's disease underwent initial treatment with extended-field radiation therapy. Nineteen of these patients also received combination chemotherapy....Full Text Available

1990-02-01

322

Pulmonary Function and the Risk of Functional Limitation in Chronic Obstructive Pulmonary Disease

Breast cancer is a progressive and potentially fatal disease that affects women of all ages. Like all progressive diseases, early and reliable diagnosis is the key for successful treatment and annihilation....Full Text Available

323

Probiotic Lactobacillus spp. Diminish Helicobacter hepaticus-Induced Inflammatory Bowel Disease in Interleukin-10-Deficient Mice

The authors’ objective was to analyze the impact of respiratory impairment on the risk of physical functional limitations among adults with chronic obstructive pulmonary disease (COPD)....Full Text Available

2008-05-01

324

Prevalence of Otolaryngologic Diseases in South Korea: Data from the Korea National Health and Nutrition Examination Survey 2008

Clinical and experimental evidence has demonstrated the potential role of probiotics in the prevention or treatment of inflammatory bowel disease. Probiotic clones with direct immunomodulatory activity...Full Text Available

2005-02-01

325

Prevalence and trends of selected urologic conditions for VA healthcare users

ObjectivesThe aims of this study were to evaluate the prevalence of otolaryngologic diseases in Korea.MethodsWe obtained data from the 2008 Korea...Full Text Available

2010-12-01

326

Potential for exposure to tick bites in recreational parks in a Lyme disease endemic area.

BackgroundConducted as part of the Urologic Diseases in America project whose aim was to quantify the burden of urologic diseases on the American public, this study focuses on Veterans...Full Text Available

327

Physique and Serum Lipids of Young London Busmen in relation to Ischaemic Heart Disease

Eight recreational parks located in a Lyme disease endemic area of southern New York State were surveyed for the presence of ticks during the summer of 1985 by drag sampling. Ixodes dammini, the primary...Full Text Available

1989-01-01

328

Physical Activity and Telomere Biology: Exploring the Link with Aging-Related Disease Prevention

Earlier studies of white London busmen revealed that the ischaemic heart disease experience of conductors is better than that of drivers. Various factors which might be related to this difference have...Full Text Available

1967-07-01

329

Physical Activity and Mortality in Chronic Kidney Disease (NHANES III)

Physical activity is associated with reduced risk of several age-related diseases as well as with increased longevity in both rodents and humans. Though these associations are well established, evidence...Full Text Available

330

Persistence in herpes simplex virus infections.

Background and objectives: Chronic kidney disease (CKD) is associated with impaired physical activity. However, it is unclear whether the associations of physical activity with mortality are modified...Full Text Available

2009-12-01

331

Peptide Nanoparticles as Novel Immunogens: Design and Analysis of a Prototypic Severe Acute Respiratory Syndrome Vaccine

Diseases of man caused by the virus of herpes simplex fall into two broad categories. The primary disease occurs only once in any individual's life and is caused by transmission of virus from an already...Full Text Available

1978-09-01

332

Partial Purification and Characterization of Biological Effects of a Lipid Toxin Produced by Mycobacterium ulcerans

Severe acute respiratory syndrome (SARS) is an infectious disease caused by a novel coronavirus that cost nearly 800 lives. While there have been no recent outbreaks of the disease, the threat...Full Text Available

2009-01-01

333

Outcome of patients with systemic rheumatic disease admitted to medical intensive care units.

Organisms in the genus Mycobacterium cause a variety of human diseases. One member of the genus, M. ulcerans, causes a necrotizing skin disease called Buruli ulcer....Full Text Available

1998-02-01

334

Neurosarcoidosis--demonstration of meningeal disease by gadolinium enhanced magnetic resonance imaging.

The outcome of patients admitted to intensive care units is known to be influenced by such factors as age, previous health status, severity of disease, and diagnosis. To estimate the outcome of such...Full Text Available

1992-05-01

335

Multiorgan Detection and Characterization of Protease-Resistant Prion Protein in a Case of Variant CJD Examined in the United States

Arriving at a firm diagnosis of neurosarcoidosis continues to pose serious problems, particularly when evidence of granulomatous disease outside the nervous system is lacking. The commonest mode of...Full Text Available

1991-06-01

336

Multicomponent Breath Analysis With Infrared Absorption Using Room-Temperature Quantum Cascade Lasers

BackgroundVariant Creutzfeldt–Jakob disease (vCJD) is a prion disease thought to be acquired by the consumption of prion-contaminated beef products. To date, over 200 cases...Full Text Available

337

Medical records documentation of constipation preceding Parkinson disease

Breath analysis is a powerful noninvasive technique for the diagnosis and monitoring of respiratory diseases, including asthma and chronic obstructive pulmonary disease (COPD). Nitric oxide...Full Text Available

2009-12-11

338

MR findings in acute Lyme disease affecting the knee. A case report

Objective:Parkinson disease (PD) may affect the autonomic nervous system and may cause constipation; however, few studies have explored constipation preceding the motor onset of...Full Text Available

2009-11-24

339

Long-term disease-free survival after surgical resection for multiple bone metastases from rectal cancer

In this paper we report a case with primarily unspecific arthralgia after surgical therapy of hallux valgus deformity and consecutive reflex sympathetic dystrophy in which MR led to the diagnosis of Lyme disease. (orig.)

2002-07-01

340

Living and dying with severe chronic obstructive pulmonary disease: multi-perspective longitudinal qualitative study

Bone metastasis of primary colorectal cancer is uncommon. When it occurs, it is usually a late manifestation of disease and is indicative of poor prognosis. We describe a patient with multiple metachronous...Full Text Available

2011-08-10

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

341

Liver Flukes: the Malady Neglected

Objectives To understand the perspectives of people with severe chronic obstructive pulmonary disease (COPD) as their illness progresses, and of their informal and professional carers,...Full Text Available

2011-01-01

342

Lack of LDL Receptor Enhances Amyloid Deposition and Decreases Glial Response in an Alzheimer's Disease Mouse Model

Liver fluke disease is a chronic parasitic inflammatory disease of the bile ducts. Infection occurs through ingestion of fluke-infested, fresh-water raw fish. The most well-known species that cause...Full Text Available

2011-05-01

343

Isolation and characterization of a new Cytophaga species implicated in a work-related lung disease.

BackgroundApolipoprotein E (ApoE), a cholesterol carrier associated with atherosclerosis, is a major risk factor for Alzheimer's disease (AD). The low-density lipoprotein receptor...Full Text Available

344

Is it Crohn's disease? A severe systemic granulomatous reaction to sulfasalazine in patient with rheumatoid arthritis

A yellow-pigmented, gram-negative, gliding bacterium isolated from an industrial water spray air humidification system was implicated as a causative agent in several occurrences of lung disease with...Full Text Available

1984-11-01

345

Investigating the spatial variability in incidence of coronary heart disease in the Gazel cohort: the impact of area socioeconomic position and mediating role of risk factors

BackgroundSulfasalazine is a widely used anti-inflammatory agent in the treatment of inflammatory bowel disease and several rheumatological disorders. Although as many as 20% of...Full Text Available

346

Inhibition of the visual cycle by A2E through direct interaction with RPE65 and implications in Stargardt disease

Study objectiveThe study aim was to improve our understanding of the relationships between contextual socioeconomic characteristics and coronary heart disease (CHD)...Full Text Available

2011-02-01

347

In silico modeling of the specific inhibitory potential of thiophene-2,3-dihydro-1,5-benzothiazepine against BChE in the formation of ?-amyloid plaques associated with Alzheimer's disease

Stargardt disease (STGD) is the major form of inherited juvenile macular degeneration. Pyridinium bis-retinoid A2E is a major component of lipofuscin which accumulates in retinal pigment epithelium...Full Text Available

2010-10-12

348

Identifying and validating biomarkers for Alzheimer's disease

BackgroundAlzheimer's disease, known to be associated with the gradual loss of memory, is characterized by low concentration of acetylcholine in the hippocampus and cortex part of...Full Text Available

349

Hypobetalipoproteinemia with accumulation of an apoprotein B-like protein in intestinal cells. Immunoenzymatic and biochemical characterization of seven cases of Anderson's disease.

The identification and validation of biomarkers for diagnosing Alzheimer's disease (AD) and other forms of dementia are increasingly important. To date, ELISA measurement of β-amyloid(1–42),...Full Text Available

2011-01-01

350

Human spumaretrovirus-related sequences in the DNA of leukocytes from patients with Graves disease.

We describe here seven cases (from five kindreds) of Anderson's disease, which is characterized by diarrhea, steatorrhea, hypobetalipoproteinemia with low levels of cholesterol, triglycerides, and phospholipids,...Full Text Available

1986-08-01

351

Horizontal Transmissible Protection against Myxomatosis and Rabbit Hemorrhagic Disease by Using a Recombinant Myxoma Virus

Viruses, and more particularly retroviruses, have been postulated to play a role in the pathogenesis of autoimmune diseases. In a search for spumaretrovirus infection markers, we screened a group of...Full Text Available

1992-11-01

352

Historical Mammal Extinction on Christmas Island (Indian Ocean) Correlates with Introduced Infectious Disease

We have developed a new strategy for immunization of wild rabbit populations against myxomatosis and rabbit hemorrhagic disease (RHD) that uses recombinant viruses based on a naturally attenuated field...Full Text Available

2000-02-01

353

Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.

It is now widely accepted that novel infectious disease can be a leading cause of serious population decline and even outright extinction in some invertebrate and vertebrate groups (e.g., amphibians)....Full Text Available

354

Heritability of Measures of Kidney Disease Among Zuni Indians: The Zuni Kidney Project

An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is...Full Text Available

1988-03-01

355

Hereditary Connective Tissue Diseases in Young Adult Stroke: A Comprehensive Synthesis

BackgroundThe long-term goal of the GKDZI (Genetics of Kidney Disease in Zuni Indians) Study is to identify genes, environmental factors, and genetic-environmental...Full Text Available

2010-08-01

356

Genomic Diversity and Evolution of Mycobacterium ulcerans Revealed by Next-Generation Sequencing

Though the genetic background of ischaemic and haemorrhagic stroke is often polygenetic or multifactorial, it can in some cases result from a monogenic disease, particularly in young adults. Besides...Full Text Available

357

Gene-gene and gene-environment interactions: new insights into the prevention, detection and management of coronary artery disease

Mycobacterium ulcerans is the causative agent of Buruli ulcer, the third most common mycobacterial disease after tuberculosis and leprosy. It is an emerging infectious disease that...Full Text Available

2009-09-01

358

Gene-Environment Interactions and Epigenetic Basis of Human Diseases

Despite the recent success of genome-wide association studies (GWASs) in identifying loci consistently associated with coronary artery disease (CAD), a large proportion of the genetic components of...Full Text Available

359

Gender and risk of autoimmune diseases: possible role of estrogenic compounds.

Most human diseases are related in some way to the loss or gain in gene functions. Regulation of gene expression is a complex process. In addition to genetic mechanisms, epigenetic causes are...Full Text Available

2008-01-01

360

From antibody insult to fibrosis in neonatal lupus - the heart of the matter

A striking common feature of many autoimmune diseases in humans and experimental animals, despite differences in pathology, is that females are highly susceptible to autoimmune conditions compared to...Full Text Available

1999-10-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

361

First Culture Isolation of Borrelia lonestari, Putative Agent of Southern Tick-Associated Rash Illness

Few diseases exemplify the integration of research from bench to bedside as well as neonatal lupus, often referred to as a model of passively acquired autoimmunity. In essence, this disease encompasses...Full Text Available

2003-01-01

362

Fetal ascites: an unusual presentation of Niemann-Pick disease type C.

Southern tick-associated rash illness (STARI) is a Lyme disease-like infection described in patients in the southeastern and south-central United States, where classic Lyme disease is relatively rare....Full Text Available

2004-03-01

363

Feasibility of Using Cranial Electrotherapy Stimulation for Pain in Persons with Parkinson's Disease

Two infants were seen with severe ascites detected before birth, a previously unreported presentation of Niemann-Pick disease type C. In the second infant no diagnostic storage cells were present in...Full Text Available

1989-10-01

364

Excessive TV viewing and cardiovascular disease risk factors in adolescents. The AVENA cross-sectional study

Objectives. To assess the feasibility of treating musculoskeletal pain in the lower back and/or lower extremities in persons with Parkinson's disease (PD) with cranial electrotherapy...Full Text Available

365

Evolving hard problems: Generating human genetics datasets with a complex etiology

BackgroundExcessive television (TV) viewing might play an important role in the development of cardiovascular disease (CVD). The aim of this study was to examine the independent...Full Text Available

366

Evaluation of a diagnostic algorithm for heart disease in neonates.

BackgroundA goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the...Full Text Available

367

Evaluation of Systemic Markers Related To Anemia of Chronic Disease in the Peripheral Blood of Smokers and Non-Smokers with Chronic Periodontitis

OBJECTIVE--To develop, test, and validate an algorithm for diagnosing disease in neonates during an over the telephone referral to a specialist cardiac centre. DESIGN--A draft algorithm requiring only...Full Text Available

1991-04-20

368

Erythrocyte transketolase activity in suspected cases of Leigh's disease, or subacute necrotising encephalomyelopathy.

ObjectivesThe aim of this study was to investigate the effect of cigarette smoking on clinical parameters and signs anemia of chronic disease in chronic periodontitis patients.Full Text Available

2008-04-01

369

Emerging diseases in Chiroptera: why bats?

Erythrocyte transketolase activity and the effect of adding thiamine pyrophosphate (% thiamine pyrophosphate effect) were measured in 111 subjects suspected to suffer from Leigh's disease (subacute...Full Text Available

1980-10-01

370

Effect of dietary monosodium glutamate on trans fat-induced nonalcoholic fatty liver disease

A conference entitled ‘2nd International Berlin Bat Meeting: Bat Biology and Infectious Diseases’ was held between the 19 and 21 of February 2010 in Berlin, Germany. Researchers from...Full Text Available

2010-08-23

371

Effect of clindamycin on neutrophil killing of gram-negative periodontal bacteria.

The effects of dietary monosodium glutamate (MSG) on trans-fatty acid (TFA)-induced nonalcoholic fatty liver disease (NAFLD) are addressed in an animal model. We used Affymetrix microarray...Full Text Available

2009-08-01

372

Effect of Peroxisome Proliferator-Activated Receptor Gamma Agonist (Pioglitazone) and Methotrexate on Disease Activity in Rheumatoid Arthritis (Experimental and Clinical Study)

Periodontal diseases are infections of the tissues supporting the dentition. Recognition that relatively specific microfloras are associated with distinct clinical forms of periodontal disease has prompted...Full Text Available

1988-10-01

373

Does Erectile Dysfunction Contribute to Cardiovascular Disease Risk Prediction beyond the Framingham Risk Score?

Objective:To investigate the combined effect of both pioglitazone and methotrexate on disease activity of rheumatoid arthritis in a biphasic study; experimental and clinical.Methods:Experimentally:...Full Text Available

374

Detection of Sub-Clinical CWD Infection in Conventional Test-Negative Deer Long after Oral Exposure to Urine and Feces from CWD+ Deer

ObjectiveTo determine whether erectile dysfunction (ED) predicts cardiovascular disease (CVD) beyond traditional risk factors.BackgroundFull Text Available

2010-01-26

375

Destructive effects of smoking on molecular and genetic factors of periodontal disease

BackgroundChronic wasting disease (CWD) of cervids is a prion disease distinguished by high levels of transmissibility, wherein bodily fluids and excretions are thought to play an...Full Text Available

376

DHA supplementation for late onset Stargardt disease: NAT-3 study

Many epidemiological evidences have proven the association between smoking and periodontal disease. The causality can be further established by linking findings of traditional epidemiological studies...Full Text Available

377

Critical nucleus size for disease-related polyglutamine aggregation is repeat length dependent

Background:We analyzed the effects of a docosahexaenoic acid (DHA) supplementation in patients affected with late onset Stargardt disease (STGD).Methods:DHA...Full Text Available

2010-01-01

378

Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice

Since polyglutamine (polyQ) aggregate formation has been implicated as playing an important role in expanded CAG repeat diseases, it is important to understand the biophysics underlying the...Full Text Available

2011-03-01

379

Construction and Characterization of Genetically Defined aro omp Mutants of Enterotoxigenic Escherichia coli and Preliminary Studies of Safety and Immunogenicity in Humans

Huntington's disease (HD) is one of several neurodegenerative disorders caused by expansion of CAG repeats in a coding gene. Somatic CAG expansion rates in HD vary between organs, and the greatest instability...Full Text Available

2010-12-01

380

Cloning and expression of portions of the 34-kilodalton-protein gene of Mycobacterium paratuberculosis: its application to serological analysis of Johne's disease.

Enterotoxigenic Escherichia coli (ETEC) is a leading cause of diarrhea in travelers to countries where the disease is endemic and causes a major disease burden in the indigenous population,...Full Text Available

2001-08-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

381

Chronic Coronary Artery Disease: Diagnosis and Management

Paratuberculosis (Johne's disease), an endemic mycobacteriosis of cattle that is caused by Mycobacterium paratuberculosis, is characterized by incoercible diarrhea and fecal shedding of bacteria. The...Full Text Available

1993-04-01

382

Chromosome substitution reveals the genetic basis of Dahl salt-sensitive hypertension and renal disease

Coronary artery disease (CAD) is the single most common cause of death in the developed world, responsible for about 1 in every 5 deaths. The morbidity, mortality, and socioeconomic importance...Full Text Available

2009-12-01

383

Characteristics relevant to cardiovascular disease among adults of African and Indian origin in Guyana

This study examined the genetic basis of hypertension and renal disease in Dahl SS/Mcwi (Dahl Salt-Sensitive) rats using a complete chromosome substitution panel of consomic rats in which each of the...Full Text Available

2008-09-01

384

Challenge and Hope in Radiotherapy of Hepatocellular Carcinoma

Characteristics relevant to cardiovascular disease, including anthropometry, arterial blood pressure, serum cholesterol levels, chest radiography and electrocardiography, were investigated in a survey...Full Text Available

1970-01-01

385

Carpal Tunnel Syndrome and Peripheral Polyneuropathy in Patients with End Stage Kidney Disease

Hepatocellular carcinoma (HCC) is one of the most critical global health issues. With frequent association of viral liver disease, HCC is highly complex, harboring both cancer and chronic liver disease....Full Text Available

2009-10-31

386

Bio-psychosocial determinants of cardiovascular disease in a rural population on Crete, Greece: formulating a hypothesis and designing the SPILI-III study

This study was designed to identify the causes of the development of carpal tunnel syndrome (CTS) associated with end stage kidney disease (ESKD). A total of 112 patients with ESKD, 64 on hemodialysis...Full Text Available

2011-09-01

387

Basement membrane chondroitin sulfate proteoglycan alterations in a rat model of polycystic kidney disease.

BackgroundIn 1988, the SPILI project was established in order to evaluate the cardiovascular disease (CVD) risk profile of the inhabitants of Spili, in rural Crete, Greece. The first...Full Text Available

388

Auditing the Management of Vaccine-Preventable Disease Outbreaks: The Need for a Tool

Alterations in basement membrane components, notably proteoglycans, in a rat model of polycystic kidney disease have been investigated. Rats were fed phenol II (2-amino-4-hydroxyphenyl-5-phenyl thiazole)...Full Text Available

1994-03-01

389

Association of mineral composition of neonatal intravenous feeding solutions and metabolic bone disease of prematurity.

Public health activities, especially infectious disease control, depend on effective teamwork. We present the results of a pilot audit questionnaire aimed at assessing the quality of public health services...Full Text Available

390

Association between skin diseases and severe bacterial infections in children: case-control study

To assess the effects of increasing the mineral content of parenteral nutrition solutions on the biochemical and radiological indicators of metabolic bone disease of prematurity 27 neonates who required...Full Text Available

1989-04-01

391

Association between erectile dysfunction and cardiovascular risk in individuals with type-2 diabetes without overt cardiovascular disease

BackgroundSepsis or bacteraemia, however rare, is a significant cause of high mortality and serious complications in children. In previous studies skin disease or skin infections...Full Text Available

392

Anxiety in Patients with Cardiac Disease.

Background:Erectile dysfunction in type-2 diabetes may be an independent marker for coronary artery disease. Present study was undertaken to investigate whether type-2 diabetic...Full Text Available

2009-10-01

393

Anti-albumin antibodies in chronic liver diseases: diagnostic significance of these antibodies in patients with conventional or immunosuppressive therapy.

Anxiety may cause adverse outcomes through physiologic pathways in patients with cardiac disease. The purpose of this dissertation was to investigate anxiety and its correlates in persons with acute myocardial infarction (AMI) and heart failure (HF). The ...

2005-01-01

394

Anger Expression and Risk of Coronary Heart Disease: Evidence From the Nova Scotia Health Survey

The two categories of anti-albumin antibodies (AAA), namely precipitins (AA-P) and agglutinins (AA-Aggl), were investigated in 260 patients with morphologically diagnosed chronic liver diseases (CLD)....Full Text Available

1981-02-01

395

An update on 'progression promoters' in renal diseases.

BackgroundWhile some studies have found that anger increases the risk of incident coronary heart disease (CHD), others found anger protective. Prior studies did not...Full Text Available

2010-02-01

396

An unsupervised classification method for inferring original case locations from low-resolution disease maps

AIM: This paper reviews progression in renal diseases. METHODS: An English language literature search using Medline (1980 January-2001 July) was done to assess research and review articles on progression...Full Text Available

2003-01-01

397

An Update on the Controversies in Anemia Management in Chronic Kidney Disease: Lessons Learned and Lost

BackgroundWidespread availability of geographic information systems software has facilitated the use of disease mapping in academia, government and private sector. Maps that display...Full Text Available

398

Advanced MRI Methods for Assessment of Chronic Liver Disease

Background. Erythropoietin deficiency and anemia occur in Chronic Kidney Disease (CKD) and may be treated with Erythropoietin Stimulating Agents (ESAs). The optimal hemoglobin,...Full Text Available

2011-01-01

399

Activation of peripheral blood mononuclear cells in bronchoalveolar lavage fluid from patients with sarcoidosis: visualisation of single cell activation products.

MRI plays an increasingly important role for assessment of patients with chronic liver disease. MRI has numerous advantages, including lack of ionizing radiation and the possibility of performing...Full Text Available

2009-07-01

400

Accumulation of Long-Chain Glycosphingolipids during Aging Is Prevented by Caloric Restriction

BACKGROUND--Interstitial lung diseases are characterised by the recruitment of mononuclear cells to disease sites where maturation occurs and activation products, including lysozyme (LZM), are released....Full Text Available

1994-11-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

401

Absolute CD4+ T-Lymphocyte Count as a Surrogate Marker of Pediatric HIV Disease Progression

BackgroundChronic kidney disease and end-stage renal disease are major causes of morbidity and mortality that are seen far more commonly in the aged population. Interestingly, kidney...Full Text Available

402

A System for the Recording of Clinical Data as an Aid in the Diagnosis of Bovine Digital Disease

BackgroundTraditionally in pediatric HIV, the CD4+ T-lymphocyte percent is used in monitoring disease progression due to the variability in absolute CD4+ T-lymphocyte...Full Text Available

2008-07-01

403

A Population-Based, Longitudinal Study of Erectile Dysfunction and Future Coronary Artery Disease

A form for the clinical evaluation of bovine digital disease was developed. In this article, each section of the resulting Digit Evaluation Form is discussed and justified. By following the...Full Text Available

1986-08-01

404

[The debate about the origin of venereal disease and VD control in modern China: focusing on Shanghai and Beijing in the first half of the twentieth century

OBJECTIVE: To assess the association between erectile dysfunction (ED) and the long-term risk of coronary artery disease (CAD) and the role of age as a modifier of this association.PARTICIPANTS...Full Text Available

2009-02-01

405

Involvement of the chest and abdominal wall as a rare manifestation in Hodgkin's disease

Full Text Available

2007-06-01

406

Flow of couple stress fluid through narrow tubes by sigma phenomenon and marginal zone theory with applications to blood flow and cardiovascular diseases.

Radiological findings of chest and abdominal wall involvement in Hodgkin's disease are reported. This manifestation was diagnosed in one patient in the primary staging and in two patients during the course of the disease. Typical radiological findings are soft tissue masses in the chest and abdominal wall, in two cases with continous tumor growth of enlarged mediastinal lymphnodes into the anterior chest wall. The axial computed tomography is the best method to evaluate the extent of chest and abdominal wall involvement in Hodgkin's disease.

1983-03-01

407

Fine mapping of a foot-and-mouth disease virus epitope recognized by serotype-independent monoclonal antibody 4B2.

PMID:534760

1979-01-01

408

Effects of cyclosporin A treatment on the pathogenesis of avian leukosis virus subgroup J infection in broiler chickens with Marek's disease virus exposure.

Full Text Available

2011-02-01

409

Differential Diagnosis of Brain Diseases Using In Vivo Proton Magnetic Resonance Spectroscopy at 3 Tesla: A Preliminary Study

Full Text Available

2003-12-01

410

Development of QTL Mapping Populations

Full Text Available

2009-12-01

411

The objective of this animation is to develop a QTL mapping population for locating and characterizing the genes responsible for resistance to tan spot disease of wheat.

412

Contact Lenses

Carotid Artery Stenting Outcomes in the Standard Risk Population for Carotid Endarterectomy

... Precautions Comprehensive Eye and Vision Examination Nutrition Lutein Antioxidants & Age-Related Eye Disease Lutein and Zeaxanthin - Eye- ...

413

Acquired cystic kidney disease

Carotid Artery Disease; Stroke; Amaurosis Fugax; Transient Ischemic Attack (TIA)

2011-10-03

414

Trial of using computer tomography in the diagnosis of mediastinal diseases in children

Acquired cystic kidney disease (ACKD), also known as acquired renal cystic disease (ARCD,) occurs in patients who are on dialysis for end-stage renal disease. It is generally accepted that ACKD develops as a consequence of sustained uremia and can first manifest even before dialysis is initiated while the patient is still in chronic renal failure. The role of immune suppression, particularly in transplant recipients, in the development of ACKD, is still under investigation. The prevalence of ACKD is directly related to the duration of dialysis and the risk of cancer is directly related to the presence of cysts. Herein we review the current understanding of the pathophysiology and imaging implications of ACKD. (orig.)

2000-11-01

415

Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

In 15 children (in age 2 weeks - 15 years) the computer tomography beside radiological examination was done because of mediastinal diseases. In all cases the computer tomography was valuable. In 4 cases obtained results have changed diagnostic conclusions. The examples are described showing the usefulness of the computer tomography as supplementary diagnostic method in mediastinal diseases in children.

1981-01-01

416

Report on Invasive Disease and Meningitis due to Haemophilus influenzae and Streptococcus pneumonia from The Network for Surveillance of Pneumococcal diseases in the East African Region (netSPEAR)

Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available

2010-12-01

417

Pneumococcal disease in young children has not been as well characterized in East Africa as it has been in industrialized countries. Although pneumococci are likely to cause substantial mortality...Full Text Available

2009-03-01

418

NAME=\\

...INFORMATION Diarrhoeal disease Food safety and foodborne illness Enterohaemorrhagic Escherichia coli (EHEC) Cholera WHO PROGRAMMES AND ACTIVITIES Child and Adolescent Health and Development (...FOS) Initiative for Vaccine Research (IVR) TECHNICAL INFORMATION Vaccine research: diarrhoeal diseases Cholera Water-related diseases Household water treatment and safe storage WHO Global Salm-Surv ...PUBLICATIONS Diarrhoea: child and adolescent health Diarrhoea: cholera RELATED TOPICS - Child health - Water - Food safety - Cholera - Travel - Breastfeeding ...

419

NAME=\\

Mastering a mediator: blockade of CCN-2 shows early promise in human diabetic kidney disease

... All rickettsial diseases respond to treatment with antibiotics such as doxycycline and tetracycline As of 10 May, the Government of South Africa has reported 186 confirmed cases of RVF in humans, including 18 deaths, in Free State Province, Eastern Cape Province, Northern Cape Province, Western Cape, and North West Province. RVF is a viral disease that primarily affects animals (such as cattle, buffalo, sheep, goats and camels). The disease can also affect humans. The main mode of transmission of RVF ...

420

British Library Electronic Table of Contents (United Kingdom)

In diabetes complications, CCN-2 (known originally as CTGF) has been implicated in diabetic nephropathy both as a marker and a mediator of disease. This commentary addresses CCN-2 in diabetic nephropathy, in the context of the recent publication of the first human study to inhibit CCN-2 bioactivity in diabetic kidney disease.

2010-01-01

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

421

Hypotheses on forest decline as reflected by the results of surveys

Vitiligo during Treatment of Crohn's Disease with Adalimumab: Adverse Effect or Co-Occurrence?

With reference to three hypotheses on the causes of forest decline, the manifold uses of forest decline surveys are demonstrated. Hypothesis no. 1: Forest disease from high-voltage transmission lines; hypothesis no. 2: Forest disease as the consequence of damage from micorrhizas; hypothesis no. 3: Radioactivity as the cause of the increased incidence of forest disease. (orig./MG)

1987-11-25

422

British Library Electronic Table of Contents (United Kingdom)

Abstract Adalimumab is a fully human monoclonal anti-tumor necrosis factor-a agent that is approved for the treatment of Crohn's disease. It has a good safety profile, injection site reactions being the most common adverse effect. We report a case of a 54-year-old woman with a 30-year history of Crohn's disease who developed achromic patches on the trunk and upper extremities after initiating treatment with adalimumab. Cutaneous biopsy confirmed diagnosis of vitiligo and laboratory testing ruled out thyroid disease. Concomitant occurrence of vitiligo and inflammatory bowel disease, although rare, has been described. A common autoimmune basis could explain this fact. Moreover, multiple cutaneous adverse effects have been described in the literature secondary to biologic treatments, includin...

2011-01-01

423

The epidemiology of Graves' disease: Evidence of a genetic and an environmental contribution

British Library Electronic Table of Contents (United Kingdom)

Previous family and twin studies have indicated that Graves' disease has a heritable component. Family studies have also shown that some autoimmune disease cluster in families and genetic studies have been able to show shared susceptibility genes. In the present nation-wide study we describe familial risk for Graves' disease among parents and offspring, singleton siblings, twins and spouses with regard to age of onset, gender and number and type of affected family members. Additionally familial association of Graves' disease with any of 33 other autoimmune and related conditions was analyzed. The Swedish Multigeneration Register on 0-75-year-old subjects was linked to the Hospital Discharge Register from years 1987-2007. Standardized incidence ratios (SIRs) were calculated for individuals ...

2010-01-01

424

Chronic and non-communicable diseases: a critical challenge for nurses globally

British Library Electronic Table of Contents (United Kingdom)

ALLEYNE G., HANCOCK C. & HUGHES P. (2011) Chronic and non-communicable diseases: a critical challenge for nurses globally. International Nursing Review58, 328-331 Background:- Chronic and non-communicable diseases (NCDs) are a growing and enormous challenge that faces countries across the world. Low- and middle-income countries are disproportionately affected. Contributory factors:- Three risk factors - tobacco use, poor diet (including excessive alcohol intake) and lack of physical activity - contribute to four major chronic diseases - cardiovascular, chronic obstructive pulmonary disease, diabetes and some cancers, which are responsible for over 50% of deaths worldwide. Potential solutions:- International governmental and non-governmental agencies are becoming increasingly concerned and ...

2011-01-01

425

MRI, CT, sonography and thallium-technetium subtraction scintigraphy for the detection of parathyroid disease: a four-year experience

SLC9A9 mutations, gene expression, and protein-protein interactions in rat models of attention-deficit/hyperactivity disorder

Sonography, subtraction scintigraphy, computed tomography and MRI were compared in 100 patients who had surgery 105 times for hyperparathyroidism (HPT). Surgical and pathological data were available for all operations. A total of 105 MR, 77 CT, 84 sonograms and 70 subtraction scintigrams were performed. The ability of the imaging modalities, individually and in combination, to detect HPT, histology, size, concomitant thyroid disease and location of the diseased glands has been evaluated. For primary HPT, sensitivity ranged from 68% for MRI to 40% for scintigraphy but was much lower for tertiary HPT with all modalities. The ability to identify diseased glands was strongly size dependent for all methods. If patients had had previous neck surgery, the most sensitive methods were MRI and scintigraphy and this also held true for patients with concomitant thyroid disease and ectopically located glands. The ...

426

British Library Electronic Table of Contents (United Kingdom)

Abstract SLC9A9 (solute carrier family 9, member 9, also known as Na+/H+ exchanger member (NHE9)) is a membrane protein that regulates the luminal pH of the recycling endosome, an essential organelle for synaptic transmission and plasticity. SLC9A9 has been implicated in human attention deficit hyperactivity disorder (ADHD) and in rat studies of hyperactivity. We examined the SLC9A9 gene sequence and expression profile in prefrontal cortex, dorsal striatum and hippocampus in two genetic rat models of ADHD. We report two mutations in a rat model of inattentive ADHD, the WKY/NCrl rat, which affect the interaction of SLC9A9 with calcineurin homologous protein (CHP). We observed an age-dependent abnormal expression of SLC9A9 in brains of this inattentive model and in the Spontaneous Hypertensi...

2011-01-01

427

Negative Ames-test of cis-di(thiocyanato)-N,N'-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye of the nanocrystalline TiO{sub 2} solar cell

Induction of mutation in Trichoderma viride for conversion of natural cellulose into glucose

Dye-sensitized nanocrystalline TiO{sub 2} solar cells are currently under development. Since these cells contain an electrolyte solution we reviewed the health and safety aspects in view of indoor applications, where personal contact cannot be excluded. Only small amounts of chemicals are present in each cell and so there is no danger of acute toxicity. However, long-term effects often can be caused by incidental contact with minute amounts. For this reason we have tested cis-di(thiocyanato)-bis(4,4'-dicarboxy-2,2'-bipyridine)Ru(II), the sensitizer dye in the Ames test. The dye was not mutagenic in the Salmonella typhimurium reverse mutation assay and in the Escherichia coli reverse mutation assay.

2000-01-01

428

Improvement of banana through biotechnology and mutation breeding

The production of cellulolytic enzymes from fungi has been extensively studied. Several mutants of Trichoderma reesei were selected. Most of the studies were carried out on T. reesei, T. viride, T. harzianum, Penicillium funiculosum, Altemaria alternata. Aspergillus phoenicis, A. ustus, A. tamarii, A. japonicus, and A. niger. T. koningii is one of the most active producers of the so-called C, factor, which is indispensable for the rapid and extensive attack on crystal-line cellulose. However, Trichodenna is known to excrete only small amounts of {beta}-glucosidase. Therefore, Trichoderma is supplemented with {beta}-glucosidase from Aspergillus to increase the saccharification rate of cellulose to glucose as the main sugar. Induction of mutations in Trichodenna spp. rather than T. viride as a tool for the enhancement of {beta}-glucosidase activity was reported. Unfortunately, T. reesei is a poor producer of {beta}-glucosidase. On the other hand, T. harzianum M{sub ...

1991-12-31

429

Development of radiological emergency preparedness and biological dosimetry technology

Protocols were standardized for in vitro propagation of several elite and diverse banana accessions using shoot tip explants. Tissue culture raised plants were field planted at multiple locations. Studies were undertaken for the induction of mutations using multiple shoot cultures of six selected cultivars, Shreemanti (AAA), Basrai (AAA), Lal Kela (AAA), Rasthali (AAB), Karibale Monthan (ABB) and a wild diploid (BB). These shoot cultures were irradiated at different doses of gamma rays (0-100 Gy) and subcultured thrice (up to M_1V_3) to separate shimeras, followed by induction of rooting (M_1V_4). In general, the rate of multiplication had a negative association with the dose of gamma rays. Enhanced multiplication of shoots was noticed at lower doses. The proliferation of shoots was arrested beyond 50 Gy and a dose of 70 Gy was completely lethal for all the genotypes studied. The rooted plantlets were hardened in the green house and in the early stages of field ...

1998-10-01

430

Construction and evaluation of a double mutant of Shigella flexneri as a candidate for oral vaccination against shigellosis.

Large-scale field tracer experiments have been conducted on Ulchin and Wolsung nuclear sites for the purpose of validating FADAS and of analyzing the environmental characteristics around the nuclear site. The most influential factor in atmospheric dispersion is the meteorological condition. During the experiment, meteorological data were measured on the release point and the selected positions among sampling points. Once radioactive materials are released to the atmosphere, members of public may be exposed through the environmental media such as air, soil and foods. Therefore, to protect the public, adequate countermeasures should be taken at due time for those exposure pathways. Both processes of justification and optimization are applied to a countermeasure simultaneously for decision-making. The work scope of biological research for the radiation protection had contained the search of biological microanalytic methods for the assessment of health effect by radiation and toxic agents, ...

1999-04-01

431

Characterization of the heterokaryotic and vegetative diploid phases of Magnaporthe grisea

Based on studies on the genetic and molecular basis of Shigella flexneri invasive properties, we have constructed and evaluated a double mutant of S. flexneri serotype 5 for utilization as a live attenuated oral vaccine against shigellosis. The first mutation, icsA, blocks intracellular spread of bacteria as well as cell-to-cell infection. It affects the capacity of the invasive pathogen to form large abscesses in epithelia. The second mutation, iuc, eliminates production of the siderophore aerobactin thus impairing growth of the bacterium within tissues. This double mutant, SC5700 appeared safe when administered intragastrically to macaque monkeys as three doses (5 x 10(10) c.f.u. each) at weekly intervals. Protection against a challenge by the wild type isolate (M90T) was observed 4 weeks after the last vaccine inoculation. Duration of carriage was considerably reduced as compared to the control group in which all animals had developed severe ...

1989-10-01

432

Calmodulin Kinase II Interacts with the Dopamine Transporter C Terminus to Regulate Amphetamine-Induced Reverse Transport

The heterokaryotic and vegetative diploid phases of Magnaporthe grisea, a fungal pathogen of grasses, have been characterized. Hyphal tip cells and conidia (vegetative spores) taken from these heterokaryons are auxotrophs with phenotypes identical to one or the other of the parents. M. grisea heterokaryons have completely septate hyphae with a single nucleus per cell. Heterokaryons have been utilized for complementation and dominance testing of mutations that affect nutritional characteristics of the fungus. Heterokaryons growing on minimal medium spontaneously give rise to fast-growing sectors that have the genetic properties expected of unstable heterozygous diploids. In fast-growing sectors, most hyphal tip cells are unstable prototrophs. The conidia collected from fast-growing sectors include stable and unstable prototrophs, as well as auxotrophs that exhibit a wide range of phenotypes, including many recombinant classes. Genetic linkage in meiosis has been ...

1984-01-01

433

Analysis of the roles of E6 binding to E6TP1 and nuclear localization in the human papillomavirus type 31 life cycle

Efflux of dopamine through the dopamine transporter (DAT) is critical for the psychostimulatory properties of amphetamines, but the underlying mechanism is unclear. Here we show that Ca(2+)/calmodulin-dependent protein kinase II (CaMKII) plays a key role in this efflux. CaMKIIalpha bound to the distal C terminus of DAT and colocalized with DAT in dopaminergic neurons. CaMKIIalpha stimulated dopamine efflux via DAT in response to amphetamine in heterologous cells and in dopaminergic neurons. CaMKIIalpha phosphorylated serines in the distal N terminus of DAT in vitro, and mutation of these serines eliminated the stimulatory effects of CaMKIIalpha. A mutation of the DAT C terminus impairing CaMKIIalpha binding also impaired amphetamine-induced dopamine efflux. An in vivo role for CaMKII was supported by chronoamperometry measurements showing reduced amphetamine-induced dopamine efflux in response to the CaMKII inhibitor KN93. Our data suggest that ...

2006-01-01

434

British Library Electronic Table of Contents (United Kingdom)

The E6 oncoproteins of high-risk human papillomaviruses provide important functions not only for malignant transformation but also in the productive viral life cycle. E6 proteins have been shown to bind to a number of cellular factors, but only a limited number of analyses have investigated the effects of these interactions on the viral life cycle. In this study, we investigated the consequences of HPV 31 E6 binding to E6TP1, a putative Rap1 GAP protein. HPV 16 E6 has been shown to bind as well as induce the rapid turnover of E6TP1, and similar effects were observed with HPV 31 E6. Mutation of amino acid 128 in HPV 31 E6 was found to abrogate the ability to bind and degrade E6TP1 but did not alter binding to another ?-helical domain protein, E6AP. When HPV 31 genomes containing mutations a...

2007-01-01

435

Alteration of alpha 1 Na+,K(+)-ATPase "8"6Rb"+ influx by a single amino acid substitution

Inborn Errors of Metabolism Presenting in Childhood

The sodium- and potassium-dependent adenosine triphosphatase (Na+,K(+)-ATPase) maintains the transmembrane Na+ gradient to which is coupled all active cellular transport systems. The R and S alleles of the gene encoding the Na+,K(+)-ATPase alpha 1 subunit isoform were identified in Dahl salt-resistant (DR) and Dahl salt-sensitive (DS) rats, respectively. Characterization of the S allele-specific Na+,K(+)-ATPase alpha 1 complementary DNA identified a leucine substitution of glutamine at position 276. This mutation alters the hydropathy profile of a region in proximity to T3(Na), the trypsin-sensitive site that is only detected in the presence of Na+. This mutation causes a decrease in the rubidium-86 influx of S allele-specific sodium pumps, thus marking a domain in the Na+,K(+)-ATPase alpha subunit important for K+ transport, and supporting the hypothesis of a putative role of these pumps in hypertension.

436

British Library Electronic Table of Contents (United Kingdom)

Abstract Neurodegenerative and neurometabolic disorders may cause significant morbidity and mortality in children. Imaging is important in early diagnosis of metabolic disorders and in determining the extent of brain injury. Especially after the development of new techniques such as diffusion-weighted magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS), neuroimaging plays more important role in the diagnosis and management of these disorders. In these disorders, usually a mutation causes a clinically significant block in one or more metabolic pathways. This blockage usually results in either a deficiency of the product or in an accumulation of substrate with damage induced by either storage or toxicity. The presenting symptoms are usually nonspecific. In some of the ...

2011-01-01

437

Effect of ionizing radiation and chemical mutagens on vegetatively reproducing plants. Deistvie ioniziruyushchikh izluchenii i khimicheskikh mutagenov na vegetativno razmnozhaemye rasteniya

The neurological mouse mutations jittery and hesitant are allelic and map to the region of mouse chromosome 10 homologous to 19p13.3

A study is made of plant sensitivity to mutagens during the processing of seeds. An examination is made of problems concerned with modification mutability, the nature of plant restoration following irradiation. Particular attention is given to mutation changes. A presentation is made of several features of mutant changes initially selected by separate indicators. An examination is made of the possible study of mutant indicator genetics. General data on the forms and varieties produced by the mutagenesis method are given. The book is designed for breeding specialists and geneticists engaged in the study of mutagenesis. 439 references, 27 figures, 66 table.

1981-01-01

438

GLUE-IT and PEDEL-AA: new programmes for analyzing protein diversity in randomized libraries.

Jittery (ji) is a recessive mouse mutation on Chromosome 10 characterized by progressive ataxic gait, dystonic movements, spontaneus seizures, and death by dehydration/starvation before fertility. Recently, a viable neurological recessive mutation, hesitant, was discovered. It is characterized by hesitant, uncoordinated movements, exaggerated stepping of the hind limbs, and reduced fertility in males. In a complementation test and by genetic mapping we have shown here that hesitant and jittery are allelic. Using several large intersubspecific backcrosses and intercrosses we have genetically mapped ji near the marker Amh and microsatellite markers D10Mit7, D10Mit21, and D10Mit23. The linked region of mouse Chromosome 10 is homologous to human 19p13.3, to which several human ataxia loci have recently been mapped. By excluding genes that map to human 21q22.3 (Pfkl) and 12q23 (Nfyb), we conclude that jittery is not likely to be a genetic mouse ...

1996-08-01

439

Apoptotic pathways as regulators of recombination

There are many methods for introducing random mutations into nucleic acid sequences. Previously, we described a suite of programmes for estimating the completeness and diversity of randomized DNA libraries generated by a number of these protocols. Our programmes suggested some empirical guidelines for library design; however, no information was provided regarding library diversity at the protein (rather than DNA) level. We have now updated our web server, enabling analysis of translated libraries constructed by site-saturation mutagenesis and error-prone PCR (epPCR). We introduce GLUE-Including Translation (GLUE-IT), which finds the expected amino acid completeness of libraries in which up to six codons have been independently varied (according to any user-specified randomization scheme). We provide two tools for assisting with experimental design: CodonCalculator, for assessing amino acids corresponding to given randomized codons; and AA-Calculator, for finding ...

2008-04-28

440

Alteration of nucleoside diphosphate binding specificity of E. coli elongation factor Tu (EF-Tu) by single amino acid substitution at position 138

Apoptosis, or programmed cell death (PCD), is a fundamental process that protects organismal integrity. In earlier work, we demonstrated that over-expression of either of two anti-apoptotic members of the BCL-2 family (BCL-2 or BCL-X L could elevate the frequency of radiation-induced mutations at the autosomal TK1 locus in human TK6 lymphoblasts that express wild-type TP53. Ectopic expression of BCL-X L also elevated the frequencies of double-strand break-induced gene conversion. The purpose of this study is to determine if BCL-2 family proteins promote radiation mutagenesis indirectly through their suppression of PCD, or whether the 'pro-mutagenic' function of these proteins can be separated from their anti-apoptotic function. We developed stable transfectants of TK6 cells that express a mutated form of BCL-X L with a single amino acid substitution in the BH1 domain that is known to interfere with the ability to suppress PCD (BCL-X L ...

2003-08-17

1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25

441

Spectrum of abdominal pathologies detected with CT in long term dialysis patients

A single amino acid substitution (Asp #-># Asn) at position 138 of E. coli EF-Tu was induced in the tufA gene by an M13 phage oligonucleotide site-directed mutagenesis protocol. The mutated tufA gene was then subcloned in a plasmid vector and expressed in maxicells. The properties of ["3"5S]methionine labelled mutant and wild type EF-Tu's were compared by in vitro assays. Mutant and wild-type EF-Tu's bound EF-Ts with approximately equal affinities. The 138-Asn mutation greatly reduced the protein's affinity for GDP; however, this mutation dramatically increased the proteins affinity for XDP. The mutant protein forms a stable complex with phe-tRNA and XTP, which binds to ribosomes; whereas, it does not form a complex with phe-tRNA and GTP. These results suggest that in EF-Tu x NDP complexes amino acid residue 138 must interact with the substituent on C-2 of the purine ring. Thus in wild-type EF-Tu Asp-138 would H-bond to ...

1987-06-07

442

Probable role of trace elements of some medicinal plants in cardio-vascular diseases

As a consequence of the expanded use of long term hemodialysis and continuous ambulatory peritoneal dialysis (CAPD) treatments and extended life spans, complications of end-stage renal disease and dialysis treatments are being encountered with increasing frequency in these patients. Computed tomography can accurately depict many of the potential complications of end-stage renal disease on dialysis. This article presents the abdominal CT findings of 429 end-stage renal disease patients who are on either hemodialysis or continuous ambulatory peritoneal dialysis treatment.

2009-11-15

443

Neuroinflammation and brain infections: Historical context and current perspectives

A number of herbal drugs are used in the Unani (Greco-Arab) System of Medicine for cardiovascular diseases. The herbs were analyzed by flame AAS and ICP-AES to determine if their therapeutic actions can be associated with the elements present in them. Cadmium, cobalt, chromium, copper, iron, potassium, magnesium, manganese, sodium, nickel, phosphorus, lead and zinc were some of the elements which play various roles in cardiovascular affections. An effort was made to correlate the role of these elements in cardiac diseases. (Auth.). 2 tabs., 32 refs.

444

British Library Electronic Table of Contents (United Kingdom)

An overview of current concepts on neuroinflammation and on the dialogue between neurons and non-neuronal cells in three important infections of the central nervous systems (rabies, cerebral malaria, and human African trypanosomiasis or sleeping sickness) is here presented. Large numbers of cases affected by these diseases are currently reported. In the context of an issue dedicated to Camillo Golgi, historical notes on seminal discoveries on these diseases are also presented. Neuroinflammation is currently closely associated with pathogenetic mechanisms of chronic neurodegenerative diseases. Neuroinflammatory signaling in brain infections is instead relatively neglected in the neuroscience community, despite the fact that the above infections provide paradigmatic examples of alterations o...

2011-01-01

445

Childhood neuroborreliosis: clinicoradiological correlation

Aicardi syndrome: a case report and radiologic findings; Sindrome de Aicardi: relato de caso e achados radiologicos

We report the cranial CT and MRI findings in three children with Lyme disease (neuroborreliosis). The neuroimaging findings in children have been rarely reported. We found cranial MRI far superior to cranial CT. Ring-enhancing lesions have been described in acute disseminating encephalomyelitis and multiple sclerosis but not in neuroborreliosis. Although other infectious and inflammatory diseases cannot be excluded, Lyme disease should be included in the differential diagnosis and put forward as being the most likely diagnosis in the appropriate clinical setting. Gadopentetate dimeglumine is helpful in assessing the response to antibiotic treatment. (orig.)

1995-10-01

446

A lethal form of Gorham disease associated with extensive musculoskeletal pneumatosis: case report and review of the literature

The authors report the findings of Aicardi syndrome, a disease of unknown etiology composed of multiple spasms, chorioretinal lacunae and agenesis of the corpus callosum. They present a case of Aicardi syndrome with characteristic clinical presentation and magnetic resonance imaging findings. The disease, despite being considered rare, has characteristic imaging findings. Over the past years magnetic resonance imaging has improved its ability in demonstrating other findings besides agenesis of the corpus callosum, making the radiologist's role very important in the diagnostic suspicion of this disease. (author)

2008-07-01

447

A lethal form of Gorham disease associated with extensive musculoskeletal pneumatosis: case report and review of the literature

We report here the imaging findings of a rare case of a lethal form of Gorham disease in a young female patient. Multimodality imaging findings over 13 year-follow-up demonstrated progressive wide spread skeletal and soft tissue abnormalities with permeative osteolysis, pathological fractures and severe skeletal deformities. Unusual extensive osseous and soft tissue pneumatosis was illustrated on cross-sectional studies. The progressive nature of this form of Gorham disease and the subsequent complications eventually culminated in patient's death. (orig.)

2008-11-15

448

What is Diabetic Eye Disease?

We report here the imaging findings of a rare case of a lethal form of Gorham disease in a young female patient. Multimodality imaging findings over 13 year-follow-up demonstrated progressive wide spread skeletal and soft tissue abnormalities with permeative osteolysis, pathological fractures and severe skeletal deformities. Unusual extensive osseous and soft tissue pneumatosis was illustrated on cross-sectional studies. The progressive nature of this form of Gorham disease and the subsequent complications eventually culminated in patient's death. (orig.)

2008-11-01

449

Viruses and thyroiditis: an update

... United States, there are 14 million people with diabetes and while most will not lose their vision ... good deal higher among people with Type I diabetes -- the type that usually begins in childhood and ...

450

Viral infections are frequently cited as a major environmental factor involved in subacute thyroiditis and autoimmune thyroid diseases This review examines the data related to the role of viruses in...Full Text Available

451

The dengue viruses.

The Mitoscriptome in Aging and Disease

Dengue, a major public health problem throughout subtropical and tropical regions, is an acute infectious disease characterized by biphasic fever, headache, pain in various parts of the body, prostration,...Full Text Available

1990-10-01

452

The Importance of Mitochondrial DNA in Aging and Cancer

Mitochondria are the major sites where energy is produced in the cell. Functions of organs such as the heart which has high energy demand are seriously affected by dysfunction of mitochondria....Full Text Available

2011-04-19

453

The Challenges of Colorectal Cancer Survivorship

Mitochondrial dysfunction has been implicated in premature aging, age-related diseases, and tumor initiation and progression. Alterations of the mitochondrial genome accumulate both in aging tissue...Full Text Available

454

Tackling the Steroid Issue: Squeezing Out the Juice

With advances in treatment, colorectal cancer is being transformed from a deadly disease to an illness that is increasingly curable. With this transformation has come increased interest in the...Full Text Available

2009-09-01

455

Strain-dependent variation in collateral circulatory function in mouse hindlimb

... Spectrum Disorders (25) G Grief (3) H HIV & AIDS (15) I Infectious Diseases (22) Injection Drug Use ( ...

456

Staging procedures in mycosis fungoides.

The extent (density and diameter) of the native (preexisting) collateral circulation in healthy tissues and the capacity of collaterals to enlarge/remodel in obstructive arterial disease are important...Full Text Available

2010-08-01

457

Spatial Epidemiology: Current Approaches and Future Challenges

Mycosis fungoides (MF) in deep-seated lymph nodes, spleen or liver appears to be associated with a lack of response of the disease to topical external therapy. Fourteen patients with mycosis fungoides...Full Text Available

1975-03-01

458

Soil Moisture Monitoring for Agriculture

Spatial epidemiology is the description and analysis of geographic variations in disease with respect to demographic, environmental, behavioral, socioeconomic, genetic, and infectious risk factors....Full Text Available

2004-06-01

459

International Science & Technology Center (ISTC)

Elaboration of a Modern Technology for Operational Agrometeorological Soil Moisture Monitoring Spring Wheat, Yield and Disease Damage Forecasting and Recommendations for Plant Protection on the Kazakhstan Territory

460

Small Regulatory RNA and Legionella pneumophila

Role of mast cells in the pathogenesis of hypersensitivity pneumonitis.

Legionella pneumophila is a gram-negative bacterial species that is ubiquitous in almost any aqueous environment. It is the agent of Legionnaires’ disease, an acute and often...Full Text Available

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461

Retinoids for Treatment of Retinal Diseases

To examine the possibility that mast cells have a central role in the pathogenesis of hypersensitivity pneumonitis, 20 patients with this disease were studied with the aim of seeking evidence for mast...Full Text Available

1987-08-01

462

Regulatory T cells in human disease and their potential for therapeutic manipulation

Knowledge about retinal photoreceptor signal transduction and the visual cycle required for normal eyesight has expanded exponentially over the past decade. Substantial progress in human genetics...Full Text Available

2010-06-01

463

Recent Therapy for Reversible Airway Disease

Regulatory T cells are proposed to play a central role in the maintenance of immunological tolerance in the periphery, and studies in many animal models demonstrate their capacity to inhibit inflammatory...Full Text Available

2006-05-01

464

Quantifying Risk Factors for Human Brucellosis in Rural Northern Tanzania

The current therapy for extrinsic and intrinsic asthma, together with that of ‘wheezing bronchitis’, is presented, with special attention to bronchodilators and adrenocorticosteroids....Full Text Available

1976-03-01

465

Quality and availability of consumer information on heart failure in Australia

BackgroundBrucellosis is a zoonosis of veterinary, public health and economic significance in most developing countries. Human brucellosis is a severely debilitating disease that...Full Text Available

466

Public health implications of environmental exposures.

BackgroundProvision of consumer information and patient education are considered an essential part of chronic disease management programmes developed for patients with heart failure....Full Text Available

467

Progression of liver cirrhosis to HCC: an application of hidden Markov model

The Agency for Toxic Substances and Disease Registry (ATSDR) is a public health agency with responsibility for assessing the public health implications associated with uncontrolled releases of hazardous...Full Text Available

1998-02-01

468

Patients receiving maintenance dialysis have more severe functionally significant skeletal muscle wasting than patients with dialysis-independent chronic kidney disease.

BackgroundHealth service databases of administrative type can be a useful tool for the study of progression of a disease, but the data reported in such sources could be affected...Full Text Available

469

PMID:16504974

2006-02-27

470

Paratuberculosis.

Observational Study to Evaluate the Time to Achieving the Maintenance Dose of Paricalcitol i.v. in the Treatment of Patients Suffering From End-stage Renal Disease and Severe Overactivity of the Parathyroid Glands

Paratuberculosis (Johne's disease) is a chronic, wasting, widespread mycobacteriosis of ruminants. It involves extensive mycobacterial shedding, which accounts for the high contagiousness, and ends...Full Text Available

1994-07-01

471

Obesity and periodontal disease

Kidney Failure, Chronic

2011-07-06

472

Nicotine and periodontal tissues

Obesity is characterized by the abnormal or excessive deposition of fat in the adipose tissue. Its consequences go far beyond adverse metabolic effects on health, causing an increase in oxidative stress,...Full Text Available

2010-04-01

473

Neurocysticercosis, a Persisting Health Problem in Mexico

Tobacco use has been recognized to be a significant risk factor for the development and progression of periodontal disease. Its use is associated with increased pocket depths, loss of periodontal attachment,...Full Text Available

2010-01-01

474

Microbial pathogens in raw pork, chicken, and beef: benefit estimates for control using irradiation

BackgroundThe ongoing epidemiological transition in Mexico minimizes the relative impact of neurocysticercosis (NC) on public health. However, hard data on the disease frequency...Full Text Available

475

Legionella Pneumophila Transcriptome during Intracellular Multiplication in Human Macrophages

Various control procedures have been suggested for reducing foodborne infectious diseases. Receiving considerable attention is irradiation. This report estimates the medical and wage (or productivity) benefits associated with prevention of five human diseases transmitted by beef, pork, and chicken. (These diseases can also be transmitted by other vectors, such as eggs, milk, and pets. But these sources are not included in the analysis.) All of these foodborne infectious diseases - salmonellosis, campylobacteriosis, trichinosis, tapeworm, and toxoplasmosis - could be significantly reduced by irradiating meat and poultry. The Food and Drug Administration (FDA) has just approved irradiation of pork to prevent trichinosis (50FR 29658-59) and is considering approval of irradiation of chicken to kill Salmonella. 22 references.

1985-12-01

476

Is Phenacetin a Nephrotoxin?

Legionella pneumophila is the causative agent of Legionnaires’ disease, an acute pulmonary infection. L. pneumophila is able to infect and multiply in both...Full Text Available

477

Intra-Vacuolar Proliferation of F. Novicida within H. Vermiformis

Numerous reports of chronic renal disease in patients who habitually use phenacetin-containing compounds to excess have aroused considerable controversy over the possible relationship between phenacetin,...Full Text Available

1964-08-01

478

Insulin therapy in critically ill patients

Francisella tularensis is a gram negative facultative intracellular bacterium that causes the zoonotic disease tularemia. Free-living amebae, such as Acanthamoeba and...Full Text Available

479

If I Had - Acne As a Young Female

Hyperglycemia frequently occurs with acute medical illness, especially among patients with cardiovascular disease, and has been linked to increased morbidity and mortality in critically ill patients....Full Text Available

2010-01-01

480

If I Had - A Family Member with Metabolic Syndrome

... VIDEO: FASDs Cause More Severe Behavioral Problems Than ADHD, Baking Soda May Slow Chronic Kidney Disease, Higher ...

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481

Hypersensitivity pneumonitis.

... elevated blood sugar levels, but not full-blown diabetes. What are the keys to preventing the disease? ... been well studied, in a study called The Diabetes Prevention Program, in several thousand people with this ...

482

Health Information for Travelers to Iran - Travelers' Health...

Although the cause and development of most inflammatory and fibrotic interstitial lung diseases are unknown, both the antigenic stimuli and the immunopathogenic mechanisms that produce the syndrome...Full Text Available

1993-11-01

483

Gene therapy for ocular diseases

please visit this page: About CDC.gov. Travelers' Health Home Destinations (238) Iran Regions Vaccinations News & Announcements Travel Notices Diseases Yellow Book Contents...

2011-09-04

484

Francisella Tularensis Metabolism and its Relation to Virulence

The eye is an easily accessible, highly compartmentalised and immune-privileged organ that offers unique advantages as a gene therapy target. Significant advancements have been made in understanding...Full Text Available

2011-05-01

485

Fractal dynamics in physiology: Alterations with disease and aging

Francisella tularensis is a Gram-negative bacterium capable of causing the zoonotic disease tularaemia in a large number of mammalian species and in arthropods. F. tularensis...Full Text Available

486

Fatigue Is a Predictor for Cardiovascular Outcomes in Patients Undergoing Hemodialysis

According to classical concepts of physiologic control, healthy systems are self-regulated to reduce variability and maintain physiologic constancy. Contrary to the predictions of homeostasis, however,...Full Text Available

2002-02-19

487

Expression and regulation of the NALP3 inflammasome complex in periodontal diseases

Background and objectives: Despite potential significance of fatigue and its underlying components in the occurrence of cardiovascular diseases, epidemiologic data showing the link are virtually limited....Full Text Available

2010-04-01

488

Endothelial von Willebrand factor regulates angiogenesis

Periodontitis is an infectious process characterized by inflammation affecting the supporting structures of the teeth. Porphyromonas gingivalis is a major oral bacterial species implicated...Full Text Available

2009-09-01

489

Efficacy of psychosocial rehabilitation program: The RFS experience

The regulation of blood vessel formation is of fundamental importance to many physiological processes, and angiogenesis is a major area for novel therapeutic approaches to diseases from ischemia to...Full Text Available

2011-01-20

490

Echocardiographic assessments of left atrial strain and volume in healthy patients and patients with mitral valvular heart disease by tissue Doppler imaging and 3-dimensional echocardiography.

Background:People with severe and persistent mental illness need help in most aspects of their lives, as the disability associated with these diseases can be debilitating....Full Text Available

2011-01-01

491

Cytomegalovirus Mononucleosis in Chinese Infants

Full Text Available

2009-07-01

492

Controlling Endemic Cholera with Oral Vaccines

Two Chinese infants had cytomegalovirus inclusion disease presenting as persistent pneumonia and thrombocytopenic purpura, respectively. Both had lymphadenopathy, hepatosplenomegaly, pneumonia, and...Full Text Available

1972-08-01

493

Comparative genomics of insect juvenile hormone biosynthesis?

BackgroundAlthough advances in rehydration therapy have made cholera a treatable disease with low case-fatality in settings with appropriate medical care, cholera continues...Full Text Available

2007-11-01

494

Cardiac Angiosarcoma-Associated Membranoproliferative Glomerulonephropathy

The biosynthesis of insect juvenile hormone (JH) and its neuroendocrine control are attractive targets for chemical control of insect pests and vectors of disease. To facilitate the molecular...Full Text Available

2006-04-01

495

Cancer as a metabolic disease

Primary cardiac angiosarcoma is a rare cardiac tumor. The initial clinical course is often asymptomatic, and metastatic disease is present in a majority of affected patients at diagnosis. We present...Full Text Available

2011-01-01

496

Bibliography of Leishmania and Leishmanial Diseases. ...

Emerging evidence indicates that impaired cellular energy metabolism is the defining characteristic of nearly all cancers regardless of cellular or tissue origin. In contrast to normal cells, which...Full Text Available

497

An integrated genome research network for studying the genetics of alcohol addiction

... Russian) da "substincia solu'vel e tspecifica"-do Probl. Kosh. Loishman., Ashkhabid .. ryisgoo ma (Schizro trPjnum) cruzI p5- ...

1980-08-01

498

British Library Electronic Table of Contents (United Kingdom)

Abstract Alcohol drinking is highly prevalent in many cultures and contributes to the global burden of disease. In fact, it was shown that alcohol constitutes 3.2% of all worldwide deaths in the year 2006 and is linked to more than 60 diseases, including cancers, cardiovascular diseases, liver cirrhosis, neuropsychiatric disorders, injuries and foetal alcohol syndrome. Alcoholism, which has been proven to have a high genetic load, is one potentially fatal consequence of chronic heavy alcohol consumption, and may be regarded as one of the most prevalent neuropsychiatric diseases afflicting our society today. The aim of the integrated genome research network -Genetics of Alcohol Addiction--which is a German inter-/trans-disciplinary life science consortium consisting of molecular biologists,...

2010-01-01

499

Alpha-1 antitrypsin is a potential biomarker for hepatitis B

Adult and child malaria mortality in India

BackgroundFunction exertion of specific proteins are key factors in disease progression, thus the systematical identification of those specific proteins is a prerequisite to understand...Full Text Available

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