نتایج جستجو برای: predominant mutations
تعداد نتایج: 215817 فیلتر نتایج به سال:
objectives the present study aimed to evaluate the genotypes and prevalence of mutations in a segment of s and rt gene in hbv isolates in southern khorasan, iran. methods this was a population-based study comprising 5,235 randomized samples for hbv screening. a nested-polymerase chain reaction (pcr) test was followed by direct sequencing, and the sequences blast with present sequences of ncbi d...
Patients with idiopathic pulmonary fibrosis (IPF) are at higher risk of developing lung cancers including squamous cell carcinoma (SCC), which typically carries a poor prognosis. Although the molecular basis cancer development subsequent to IPF has not been fully investigated, we recently reported two epigenetic phenotypes characterized by frequent and infrequent DNA hypermethylation in SCC, an...
Abstract Background Synchronous multifocal lung cancer (SMLC) is diagnosed with increasing frequency in clinical practice globally. Due to innate variation management and outcome, it vital properly distinguish between synchronous primary (SMPLC) intrapulmonary metastasis (IM). The pathologic features principal classification criteria of remain unclear. Our objective was evaluate the diagnostic ...
The emergence of pre-extensively drug-resistant tuberculosis (pre-XDR-TB) is a threat to TB control programs in developing countries such as Zambia. Studies Zambia have applied molecular techniques understand drug-resistance-associated mutations, circulating lineages and transmission patterns multi-drug-resistant (MDR) Mycobacterium tuberculosis. However, none has reported genotypes mutations a...
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) cause late-onset Parkinson's disease (PD) with a clinical appearance indistinguishable from idiopathic PD. Initial studies suggest that LRRK2 mutations are the most common yet identified determinant of PD susceptibility, transmitted in an autosomal-dominant mode of inheritance. Herein, we characterize the LRRK2 gene and transcript in hu...
Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid recep...
The inherently error-prone nature of protein biosynthesis and turnover leads to a constant flux of destabilized proteins. Genetic mutations in conformational disease-associated proteins, as well as exposure to acute and chronic proteotoxic stresses, further increase the load of misfolded protein on the proteostasis network. During aging, this leads to enhanced instability of the proteome, failu...
Evolution of intratumoral genetic heterogeneity during colorectal tumor progression has not been investigated so far. Multiple sample areas in colorectal adenocarcinoma at early and advanced stages and in metastases were studied for the well-known genetic alterations: K-ras and p53 point mutations and loss of heterozygosity (LOH) on chromosomes 5q and 18q. In primary colorectal cancers (CRCs), ...
Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous m...
Coronavirus disease 2019 (COVID-19) is an infectious caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), declared as a pandemic due to its rapid spread worldwide. In this study, we investigate the genetic diversity and genomic epidemiology of SARS-CoV-2, using 22 virus genome sequences reported three different laboratories in Morocco till June 7,2020, well 40,366 genomes fro...
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