نتایج جستجو برای: genetic mutation
تعداد نتایج: 825720 فیلتر نتایج به سال:
The performance of the distributed coherent aperture radar (DCAR) is heavily influenced by antenna positions. Therefore, an position optimization method proposed based on adaptive genetic algorithm with a self-supervised differential operator. In method, positions are firstly coded as chromosomes population multiple constraints, and reciprocal peak side lobe level (PSLL) beam pattern calculated...
despite the enormous heterogeneity of genetic hearing loss, mutations in the gjb2 (connexin 26) gene located on “dfnb1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromic hearing loss (arnshl) in some populations. this study describes the analysis of 100 autosomal recessive and sporadic nonsyndromic hearing loss individuals from 79 families each having at least on...
congenital recessive myotonia is a rare genetic disorder caused by mutations in clcn1, which codes for the main skeletal muscle chloride channel clc-1. more than 120 mutations have been found in this gene. the main feature of this disorder is muscle membrane hyperexcitability. here, we report a 59-year male patient suffering from congenital myotonia. he had transient generalized myotonia, which...
background kras and braf gene mutations are considered as key events in carcinogenesis progression of colorectal cancer. given the importance of these gene mutations evaluations, especially in metastatic patients, in terms of determination of therapeutic strategies, we studied the prevalence of kras and braf mutations in tabriz city. materials and methods deoxyribonucleic acid (dna) extracted...
background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most frequent genetic enzymatic disorder in human, which is inherited as an x-linked gene. it encodes a housekeeping enzyme, which is vital for cell survival. according to previous investigations, mediterranean mutation (c563t) of g6pd gene is the most prevalent mutation in some provinces of iran and neighboring countries...
mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...
background: considering a few studies on the genetic basis of the cystinuria in the middle east and the population-specific distribution of mutations in the slc3a1 , we tried to find genetic variants in three exons (1, 3, and 8) of slc3a1 . materials and methods: in this study, exons 1, 3, and 8 of slc3a1 gene of 25 unrelated cystinuria patients searched for genetic variations by polymerase cha...
Background: Autosomal dominant polycystic kidney disease (ADPKD) occurs in 1 500–4000 people worldwide. Genetic mutation is a biomarker for predicting renal dysfunction patients with ADPKD. In this study, we performed genetic analysis of Japanese ADPKD to investigate the prognostic utility mutations function outcomes. Methods: Patients clinically diagnosed underwent panel test germline PKD1 and...
Abstract Introduction: Genetic variation of FGFR3 gene is one of the factors affecting the bladder tumor. FGFR3 is a tyrosine kinase receptor, involved in controlling the cellular and angiogenesis cycle. This protein affects a variety of diseases and cancers and cartilage growth abnormalities. Regarding the high activity of fgfr3 mutations in more than 50% of primary tumors of bladder urethral...
Begomoviruses (single-stranded DNA plant viruses) are responsible for serious agricultural threats. Begomovirus populations exhibit a high degree of within-host genetic variation and evolve as quickly as RNA viruses. Although the recombination-prone nature of begomoviruses has been extensively demonstrated, the relative contribution of recombination and mutation to the genetic variation of bego...
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