نتایج جستجو برای: gene mutation
تعداد نتایج: 1284712 فیلتر نتایج به سال:
Background & Aims: Genetic mutation, 1691G> A common polymorphism in a gene that is inherited coagulation Factor 5 is associated with increased risk of thrombosis. This mutation in different populations can develop in the prognosis of thrombotic disorders, cardiovascular disorders recurrent miscarriage and other thrombotic factors are useful. Study using appropriate strategies such as review o...
Background and Objective: BRAF mutations were studied in various populations for prostate carcinoma (PC); however, mutations in BRAF gene are unusual compared to KRAS. Oncogenic activating of BRAF mutations were studied lately in almost 0%-10% of prostate cancer cases. Methods: In this retrospective study, we gathered 100 formalin-fixed ...
Background: Colorectal cancer is one of the most common types of cancer and the cause of death of a large number of patients and requires investigating the causes of the disease and adopting targeted therapies. Considering the diagnostic, therapeutic, and prognostic significance of genetic markers, in the present study BRAF-V600E gene mutation was evaluated in tissue samples of colorectal cance...
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
چکیده ندارد.
Introduction: Breast cancer is the most common malignancy in women worldwide. BRCA1 is a tumor suppressor gene that is involved in DNA-damage repair. One of the significant risk factors of breast cancer is the family history. BRCA1 gene consists of 24 exons that encode a protein with 1863 amino acids. Exon 11 is the largest exons and most of the disease-linked mutations have been found in it. I...
objective: colorectal cancer (crc) is one of the most common and aggressive cancers worldwide. the majority of crc cases are sporadic that caused by somatic mutations. the adenomatous polyposis coli (apc; omim 611731) is a tumor suppressor gene of wnt pathway and is frequently mutated in crc cases. this study was designed to investigate the spectrum of apc gene mutations in iranian patients wit...
background: this study investigated the association between pfcrt, t76 allele and chloroquine resistance in patients with falciparum malaria. molecular assays for point mutations on drugs resistance-related genes are applied tools for monitoring emerging resistance and surveillance malaria control strategies in endemic areas. the mutant genotype at codon 76 of plasmodium falciparum chloroquine ...
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutat...
how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...
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