نتایج جستجو برای: cystic fibrosis transmembrane conductance regulator

تعداد نتایج: 270923  

Journal: :iranian biomedical journal 0
marzieh mohseni mohammad razzaghmanesh elham parsi mehr hanieh zare maryam beheshtian hossein najmabadi

background: cystic fibrosis (cf) is a common autosomal recessive disorder that affects many body systems and is produced by mutations in the cystic fibrosis transmembrane conductance regulator (cftr) gene. cf is also the most frequently inherited disorder in the west. the aim of this study was to detect the mutations in the cftr gene in two iranian families with cf. methods: after dna extractio...

Journal: :iranian journal of allergy, asthma and immunology 0
reza alibakhshi mahdi zamani

cystic fibrosis (cf) is the most common inherited disorder in caucasian populations, with over 1400 cystic fibrosis transmembrane conductance regulator (cftr) mutations. the type of mutations and their distributions varies widely between different countries and/or ethnic groups. seventy iranian cystic fibrosis patients were screened for the cftr gene mutation using arms/pcr (amplification refra...

Haleh Akhavan-Niaki, Mohammad Reza Esmaeili Dooki, Reza Tabaripour, Soraya Shabani,

Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...

Journal: :Journal of Biological Chemistry 2000

2010
Hara Levy Carolynn L Cannon Daniel Asher Christopher García Robert H Cleveland Gerald B Pier Michael R Knowles Andrew A Colin

INTRODUCTION Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. CASE PRESENTATION We descri...

Journal: :Folia biologica 2009
P Krenková P Norambuena A Stambergová M Macek

Hereby we present evaluation of high-resolution melting for mutation scanning applied to the cystic fibrosis transmembrane conductance regulator gene. High resolution melting was used for mutation scanning of selected samples derived from cystic fibrosis patients with a known cystic fibrosis transmembrane conductance regulator genotype. We tested 19 different disease-causing cystic fibrosis tra...

Journal: :مجله بین المللی زیست و زیست پزشکی 0
mohammad reza esmaeili dooki non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran haleh akhavan-niaki genetic laboratory of amirkola children’s hospital, babol university of medical sciences, babol, iran soraya shabani genetic laboratory of amirkola children’s hospital, babol university of medical sciences, babol, iran reza tabaripour department of cellular and molecular biology, islamic azad university, babol-branch, iran

cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. these mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. in this study missense mutation r117h that associated with the different clinical symptoms wa...

2017
Michael Eisenhut

Citation: Eisenhut M (2017) Commentary: Cytokine-Regulation of Na+-K+-Cl− Cotransporter 1 and Cystic Fibrosis Transmembrane Conductance Regulator-Potential Role in Pulmonary Inflammation and Edema Formation. Front. Immunol. 8:1490. doi: 10.3389/fimmu.2017.01490 Commentary: Cytokine-regulation of na+-K+-Cl− Cotransporter 1 and Cystic Fibrosis transmembrane Conductance regulator-Potential role in...

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