نتایج جستجو برای: missense
تعداد نتایج: 12396 فیلتر نتایج به سال:
Familial adenomatous polyposis (FAP) is characterized by the presence of hundreds to thousands of adenomas that carpet the entire colon and rectum. Nonsense and frameshift mutations in the adenomatous polyposis coli (APC) gene account for the majority of mutations identified to date and predispose primarily to the typical disease phenotype. Some APC mutations are associated with a milder form o...
© Translational Andrology and Urology. All rights reserved. Transl Androl Urol, 2015;4(S1) www.amepc.org/tau pVHL, HIF-2a and Glut-1 was obviously lower than constant cell line; the half-time of missense mutant pVHL was shorter than the wild-type one(t1/2 mut =1.5 h vs. t1/2 wt =4 h). After treated with celastrol, the half-time of mutant pVHL increased to 3 h. Co-IP indicated that celastrol inc...
Germline mutations in the human DNA mismatch repair (MMR) genes MSH2 and MLH1 are associated with the inherited cancer disorder Lynch syndrome (LS). Up to 30% of MLH1 variants found are missense mutations. The functional consequences in regard to pathogenicity of many of these variants are unclear. Missense mutations affect protein structure or function, but may also cause aberrant splicing. In...
A major challenge in the post-genomic era is a better understanding of how human genetic alterations involved in disease affect the gene products. The KD4v (Comprehensible Knowledge Discovery System for Missense Variant) server allows to characterize and predict the phenotypic effects (deleterious/neutral) of missense variants. The server provides a set of rules learned by Induction Logic Progr...
It is increasingly appreciated that missense variants may not only alter protein structure and function but may also influence pre-mRNA splicing and/or mRNA stability. Here we explore this issue in the context of currently known SPINK1 missense variants using a full-length gene assay. We demonstrated that 4 (17%) out of 24 variants tested significantly reduced pre-mRNA splicing and/or stability...
PURPOSE To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. METHODS Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic DNA was excluded from the family's blood and all exons of the XLRS1 gene were amplified by polymerase chain reaction and analyzed using a direc...
Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1-78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum-shaping protein are well-known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely-related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inh...
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