نتایج جستجو برای: unknown mutations

تعداد نتایج: 374830  

Journal: :Neuro-oncology 2022

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...

Journal: :medical journal of islamic republic of iran 0
amir mehrgou department of medical genetics and molecular biology, school of medicine, iran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences) mansoureh akouchekian department of medical genetics and molecular biology, school of medicine, iran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی ایران (iran university of medical sciences)

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...

Journal: :journal of sciences, islamic republic of iran 2009
m.r. noori-daloii

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...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2002
Nan Hu Guang Li Wen-Jun Li Chaoyu Wang Alisa M Goldstein Ze-Zhong Tang Mark J Roth Sanford M Dawsey Jing Huang Quan-Hong Wang Ti Ding Carol Giffen Philip R Taylor Michael R Emmert-Buck

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 ...

Journal: :حقوقی دادگستری 0
علی اکبر فرح زادی استادیار و معاون آموزشی دانشگاه علوم قضایی آرش ابراهیمی

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...

Journal: :Nature 2021

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...

2016
Danieli B. Salinas Patrick R. Sosnay Colleen Azen Suzanne Young Karen S. Raraigh Thomas G. Keens Martin Kharrazi

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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