نتایج جستجو برای: polyphen
تعداد نتایج: 251 فیلتر نتایج به سال:
Background The aim of this study was to assess the ssociation between human transforming growth factor b receptor,type III (TGFBR3) and idiopathic premature ovarian failure (POF) in a Chinese population. MaterialsAndMethods A total of 112 Chinese women with idiopathic POF and 110 normal controls were examined. DNA samples prepared from blood leukocytes were used as templates for polymerase-chai...
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...
Adult Refsum disease (ARD) is a progressive multisystem disorder that is characterized by retinitis pigmentosa, hearing and smell loss, skeletal deformities, and elevated levels of phytanic acid (PA) in tissues. Peripheral neuropathy, cardiac abnormalities, and skin ichthyosis are considered subsequent manifestations, and are often described in patients not treated with PA dietary restriction. ...
Abstract Background LHPP is a tumor suppressor protein associated with various malignancies like liver, oral, pharyngeal, bladder, cervical, and gastric cancers through controlling pathways. Several single nucleotide variants have been reported to cause cancers. The main objectives of our study were investigate the impact deleterious non-synonymous on structure functions protein. Results We use...
Background: Thyroid carcinoma is the most common endocrine malignancy. Medullary thyroid carcinoma (MTC) approximately accounts for 5-10% of all thyroid carcinoma. Nowadays, it is obviously, the mutations in REarranged during transfection (RET) proto-oncogene, especially, mutations in exons 10, 11 and 16 are associated with MTC pathogenesis and occurrence. Thus, early diagnosis of MTC by mutati...
Abstract Background Plasmodium falciparum erythrocyte binding antigen-175 ( Pf EBA-175) is a candidate antigen for blood-stage malaria vaccine, while various polymorphisms and dimorphism have prevented to development of effective vaccines based on this gene. This study aimed investigate the EBA-175 both Bioko Island continent Equatorial Guinea, as well genetic polymorphism natural selection glo...
conclusions by applying wes, both novel and known scz pathogenic variants with complete or incomplete segregation in the families with multiple cases of schizophrenic patients were identified. background schizophrenia (scz) is a complex neuropsychiatric disorder characterized by pronounced genetic heterogeneity. much of the genetic architecture of the disorder has not yet been clearly elucidate...
BACKGROUND Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to patients as variants of uncertain significance lacking clearly defined risk estimates. The fraction of early-onset breast cancer cases carrying moderate-risk genotypes and quantitative methods for flagging variants for further analysis have not been established. METHO...
The science of metabolomics is exponentially growing with the boost in knowledge base of metabolites and development of bioinformatics data analysis tools. Human ACAA2 gene codes for a 397 amino acid protein, 3Ketoacyl-CoA thiolase, which is a mitochondrial enzyme responsible for catalyzing the thiolytic cleavage of 3-ketoacyl-CoA by thiolase, the last reaction of fatty-acid β-oxidation. Bioinf...
Objective Previous studies have suggested an association between gout susceptibility and common dysfunctional variants in ATP-binding cassette transporter subfamily G member 2/breast cancer resistance protein (ABCG2/BCRP), including rs72552713 (Q126X) and rs2231142 (Q141K). However, the association of rare ABCG2 variants with gout is unknown. Therefore, we investigated the effects of rare ABCG2...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید