نتایج جستجو برای: polyphen
تعداد نتایج: 251 فیلتر نتایج به سال:
BACKGROUND Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. Mutations in bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) have been shown to be associated with POF. METHODS Genomic DNA was isolated from 52 idiopathic premat...
Despite numerous studies, the causes of both development and progression of keratoconus remain elusive. Previous studies of this disorder focused mainly on one or two genetic factors only. However, in the analysis of such complex diseases all potential factors should be taken into consideration. The purpose of this study was a comprehensive analysis of known keratoconus loci to uncover genetic ...
Measures of general deleteriousness, like CADD or PolyPhen, have become indispensable tools in the interpretation of genetic variants. However, these measures say little about where in the organism these deleterious effects will be most apparent. An additional, complementary measure is needed to link deleterious variants (as determined by e.g., CADD) to tissues in which their effect will be mos...
The vast majority of coding variants are rare, and assessment of the contribution of rare variants to complex traits is hampered by low statistical power and limited functional data. Improved methods for predicting the pathogenicity of rare coding variants are needed to facilitate the discovery of disease variants from exome sequencing studies. We developed REVEL (rare exome variant ensemble le...
Site-directed mutagenesis is frequently used by scientists to investigate the functional impact of amino acid mutations in the laboratory. Over 10,000 such laboratory-induced mutations have been reported in the UniProt database along with the outcomes of functional assays. Here, we explore the performance of state-of-the-art computational tools (Condel, PolyPhen-2 and SIFT) in correctly annotat...
It has been suggested that single nucleotide polymorphisms (SNPs) in genes involved in Toll-like receptors (TLRs) pathway may exhibit broad effects on function of this network and might contribute to a range of human diseases. However, the extent to which these variations affect TLR signaling is not well understood. In this study, we adopted a bioinformatics approach to predict the consequences...
The melanocortin 1 receptor (MC1R) is involved in the control of melanogenesis. Polymorphisms in this gene have been associated with variation in skin and hair color and with elevated risk for the development of melanoma. Here we used 11 computational tools based on different approaches to predict the damage-associated non-synonymous single nucleotide polymorphisms (nsSNPs) in the coding region...
BACKGROUND Chordoma is a rare primary malignant bone tumour. Treatment options are mainly restricted to surgical excision, since chordomas are largely resistant to conventional ionising radiation and chemotherapy. Thus, there is a strong need to gain more thorough insights into the molecular biology and genetics of chordoma to allow for the development of new therapeutic options. We performed a...
Pharmacogenetics is the genetic basis of pharmacokinetics, genetic testing, and clinical management in diseases. Evaluation about genetic alterations of drug metabolizing enzymes in human genome contributes toward understanding the interindividual and interethnic variability for clinical response to potential toxicants. CYP2E1 gene encodes a drug-metabolizing enzyme that metabolizes mostly smal...
زمینه و هدف: پلیمورفیسمهای تک نوکلئوتیدی عامل ایجاد تنوع ژنتیکی در جانداران میباشند و در این میان، پلیمورفیسمهای تک نوکلئوتیدی غیر مترادف (nsSNPs) باعث تغییر در باقیماندههای اسیدآمینه میشوند. تحقیق اخیر با هدف بررسی احتمال ارتباط بین تمامی چندشکلیهای گزارششده از ژن پریون انسانی و بروز بیماری انجامشده است. مواد و روشها: در این مطالعه توالی اسیدآمینه ایزوفرم اصلی ژن پروتئین پریون انسان...
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