نتایج جستجو برای: cystic fibrosis transmembrane conductance regulator protein

تعداد نتایج: 1434055  

Journal: :World Journal of Otorhinolaryngology - Head and Neck Surgery 2018

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...

Journal: :Cold Spring Harbor Perspectives in Medicine 2013

2015
Uta Griesenbach Eric W.F.W. Alton

Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades. The cystic fibrosis transmembrane conductance regulator gene was identified in 1989. It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined,...

Journal: :مجله بین المللی زیست و زیست پزشکی 0
reza tabaripoor department of cellular and molecular biology, islamic azad university, babol branch, iran haleh akhavan niaki department of genetics, faculty of medicine, babol university of medical sciences, babol, iran mohammad reza esmaeili dooki non-communicable pediatric diseases research center, babol university of medical sciences, babol, iran tahereh dadkhah cellular and molecular biology research center, babol university of medical sciences, babol, iran ali mohammad shirafkan islamic azad university, damghan branch, iran elham ghadami department of genetics, faculty of medicine, babol university of medical sciences, babol, iran

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...

Journal: :The European respiratory journal 2000
C Andersson G M Roomans

The cellular basis of cystic fibrosis (CF) is a defect in a cyclic adenosine monophosphate (cAMP)-activated chloride channel (CF transmembrane conductance regulator) in epithelial cells that leads to decreased chloride ion transport and impaired water transport across the cell membrane. This study investigated whether it was possible to activate the defective chloride channel in cystic fibrosis...

2000
Daniel J. Hassett Jeffrey A. Whitsett Zissis C. Chroneos Susan E. Wert Jennifer L. Livingston

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید