نتایج جستجو برای: unknown mutations
تعداد نتایج: 374830 فیلتر نتایج به سال:
Abstract Mutations in the TERT promoter are single most common non-coding mutation cancer and represent genetic underpinnings of tumor cell immortality. Beyond two point mutations, G228A G250A, which selectively recruit ETS factor GABP to activate TERT, significance other variants unknown. We identified duplications wildtype sequence within core region 7 different types that have strikingly sim...
many factors including genetic, environmental, and acquired are involved in breast cancer development across various societies. among all of these factors in families with a history of breast cancer throughout several generations, genetics, like predisposing genes to develop this disease, should be considered more. early detection of mutation carriers in these genes, in turn, can play an import...
glucose-6-phosphate dehydrogenase (g6pd) in humans is in x-linked disorder, housekeeping enzyme and vital for the survival of every cell. it catalyses the oxidation of glucose-6-phosphate to 6-phospho gluconat in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of nadph. nadph is required to protect the cells against ox...
PURPOSE Previous studies have shown a high rate of allelic loss in esophageal squamous cell carcinoma (ESCC) in the vicinity of the BRCA2 gene. We aimed to assess whether the tumor suppressor gene BRCA2 was the inactivation target for allelic loss observed on chromosome 13q in ESCC. EXPERIMENTAL DESIGN We examined the entire coding sequence of the BRCA2 gene for mutations using single-strand ...
the iranian civil code has limited the effects of unknown condition to nullification of such condition provided that it results in ignorance with respect to consideration. the code conveys no explicit provision concerning the effect of such condition not resulting in the ignorance. unknown condition refers to a condition on which there is not complete and comprehensive knowledge. this article l...
Despite the existence of good catalogues cancer genes1,2, identifying specific mutations those genes that drive tumorigenesis across tumour types is still a largely unsolved problem. As result, most identified in tumours are unknown significance to tumorigenesis3. We propose observed thousands tumours—natural experiments testing their oncogenic potential replicated individuals and tissues—can b...
BACKGROUND Of the 2007 Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations, 202 have been assigned disease liability. California's racially diverse population, along with CFTR sequencing as part of newborn screening model, provides the opportunity to examine the phenotypes of children with uncategorized mutations to help inform disease liability and penetrance. METHODS We con...
Mammalian mechanistic target of rapamycine (mTOR) is a conserved serine/threonine kinase in the cellular PI3K/Akt/mTOR signaling pathway. This pathway is modified by cellular alterations such as level of energy, growth factors, stresses, as well as the increased environmental level of cancerous cytokines. In general, increase of this kinase protein function is seen in various types of cancers, ...
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