EPS2.06 Phenotypic manifestations of rare missense mutations
نویسندگان
چکیده
منابع مشابه
Novel Missense Mitochondrial ND4L Gene Mutations in Friedreich's Ataxia
Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملBioinformatics Profiling of Missense Mutations
The ability to distinguish missense nucleotide substitutions that contribute to harmful effect from those that do not is a difficult problem usually accomplished through functional in vivo analyses. In this study, instead current biochemical methods, the effects of missense mutations upon protein structure and function were assayed by means of computational methods and information from the data...
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Rett syndrome is caused by mutations in the X-linked MECP2 gene, which encodes a chromosomal protein that binds to methylated DNA. Mouse models mirror the human disorder and therefore allow investigation of phenotypes at a molecular level. We describe an Mecp2 allelic series representing the three most common missense Rett syndrome (RTT) mutations, including first reports of Mecp2[R133C] and Me...
متن کاملPhenotypic characterization of missense polymerase-δ mutations using an inducible protein-replacement system.
Next-generation sequencing has revolutionized the search for disease-causing genetic alterations. Unfortunately, the task of distinguishing the handful of causative mutations from rare variants remains daunting. We now describe an assay that permits the analysis of all types of mutations in any gene of choice through the generation of stable human cell lines, in which the endogenous protein has...
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Sarcoidosis may be associated with granulomatous inflammation in any part of the body, usually in more than one area [1]. Rare manifestations of sarcoidosis include unusual patterns of organ involvement, or are the result of granulomatous inflammation developing in unusual locations for sarcoidosis. In other rare cases, sarcoidosis is associated with a second disorder. Although the frequency of...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2018
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(18)30243-1