نتایج جستجو برای: slc29a3 gene mutation

تعداد نتایج: 1284717  

Introduction: Hemophilia B is an X-linked recessive genetic disease caused by mutations in the coagulation Factor IX gene. Mutations in the Factor IX gene result in dysfunction or deficiency of coagulation factor of IX. Direct mutation analysis involves the ideal method for molecular diagnosis of the disease. However, due to the high number of identified mutations in the gen, the lack of a comm...

2015
Manuel Daumann Marietta Fischer Sandra Niopek-Witz Christopher Girke Torsten Möhlmann

Interactions between plant and pathogen often occur in the extracellular space and especially nucleotides like ATP and NAD have been identified as key players in this scenario. Arabidopsis mutants accumulating nucleosides in the extracellular space were generated and studied with respect to susceptibility against Botrytis cinerea infection and general plant fitness determined as photosynthetic ...

Journal: :Bone 2021

Camurati-Engelmann disease is a rare autosomal dominant bone dysplasia belonging to the group of craniotubular hyperostoses. Genetic analysis classically shows mutation on TGF?1 gene. A young woman was hospitalized with intense pain in lower limbs, associated radiographic hyperostosis and sclerosis long bones. Mutation LRP6 has recently been high mass. In this case report, missense variant gene...

Ardabili, Farshid, Malekoughli, Reza, Zaman, Jalal,

Background: Due to the high rate of Helicobacter pylori infection in our country and its treatment failure, and also because of the high prevalence of antibiotic resistance of this bacterium, evaluating causes of Helicobacter pylori resistance to metronidazole and its effect on the therapeutic course is necessary. Materials and methods: A biopsy sample was obtained from 275 suspected patients r...

Journal: :international journal of molecular and cellular medicine 0
shahram torkamandi department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) milad gholami department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) javad mohammadi asl ahvaz jundishapour university of medical sciences, ahvaz, iran.سازمان های دیگر: . noor genetics laboratory, ahvaz, iran somaye rezaie department of neurology, imam hossein hospital, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences) mohammad ali zaimy department of medical genetics, faculty of medicine, tehran university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) mir davood omrani department of medical genetics, faculty of medicine, shahid beheshti university of medical sciences, tehran, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید بهشتی (shahid beheshti university of medical sciences)

hypohidrotic ectodermal dysplasia (hed) is a rare congenital disorder arising from deficient development of ectoderm-derived structures including skin, nails, glands and teeth. the phenotype of hed is associated with mutation in eda, edar, edaradd and nemo genes, all of them disruptingnf-κb signaling cascade necessary for initiation, formation and differentiation in the embryo and adult. here w...

Fatemeh Amraei, Hedayatollah Roshanfekr Jamal Fayazi Mohammad Bojarpour

Objective: Identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. Methods: Najdi Cattle is the most prominent breeds in Khuzestan province. To do this plan in Shoushtar Najdi Cattle Station, blood samples were taken from 15 Najdi Cattles. DNA was extracted from wh...

Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...

Journal: :iranian journal of medical sciences 0
seyed reza kazemi nezhad department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran fatemeh fahmi department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran saeid reza khatami department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran mohsen musaviun department of genetics, faculty of science, shahid chamran university of ahvaz, ahvaz, iran

glucose-6-phosphate dehydrogenase (g6pd) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. it is also characterized by remarkable molecular and biochemical heterogeneity. according to previous investigations, g6pd cosenza (g1376c) is a common g6pd mutation in some parts of iran. therefore in the present...

Journal: :iranian journal of cancer prevention 0
n shojaie m. sc. , department of medical biochemistry, iran pasture institute, karaj, iran f tirgari phd. , department of pathology, imam khomeini cancer institute, imam khomeini hospital, tehran, iran

abstract objective: detection of p53 gene mutation on its codon 248 between iranian women with breast cancer by pcr-rflp. material and methods: dna extraction of tumor tissues was performed in 53 patients with primary breast cancer. designing primer for the sub-studying codon was performed with nti-vector software and detection of codon 248 mutation was done by msp i pcr_rflp. results: the soma...

Ali Mohammad Shirafkan, Elham Ghadami, Haleh Akhavan Niaki, Mohammad Reza Esmaeili Dooki, Reza Tabaripoor, Tahereh Dadkhah,

Cystic fibrosis (CF) is the most common severe autosomal recessive disorder caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The frequencies, types and distributions of mutations vary widely between different populations and ethnic groups. The aim of this study was to perform a comprehensive analysis of the C...

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