نتایج جستجو برای: Cystic Fibrosis Transmembrane Regulator (CFTR)

تعداد نتایج: 239684  

ژورنال: کومش 2014
پناهی, جعفر, مهدیه, نجات, هواسیان, محمدرضا ,

بیماری فیبروزکیستیک (Cystic fibrosis, CF)یکی از کشنده‌ترین اختلالات چند‌سیستمی و شایع‌ترین بیماری مغلوب اتوزومی در سفید‌پوستان است. علت اصلی این بیماری، جهش در ژن پروتئیی به نام (Cystic fibrosis transmembrane conductive regulator) CFTR است. جهش‌های متعددی در ژن CFTR گزارش شده است که منجر به کاهش کارکرد پروتئین CFTR و بروز فنوتیپ بیماری می‌شود. شایع‌ترین جهش، ΔF508، یا حذف فنیل‌آلانین در م...

Ahmad Vosough Dizaj Hamid Gourabi Iman Salahshourifar Mohamad Ali Sadighi Gilani Ramin Radpour,

A qualitative diagnosis of infertility requires attention to female and male physical abnormalities, endocrine anomalies and genetic conditions that interfere with reproduction. Many genes are likely to be involved in the complex process of reproduction. Cystic fibrosis (CF) incidence varies in different White people populations (a higher incidence of CF is observed in northern–western European...

ژورنال: :کومش 0
محمدرضا هواسیان mohammad reza havasian student research committee, ilam university of medical sciences, ilam, iran1- دانشگاه علوم پزشکی ایلام، کمیته تحقیقات دانشجویی جعفر پناهی jafar panahi student research committee, ilam university of medical sciences, ilam, iran1- دانشگاه علوم پزشکی ایلام، کمیته تحقیقات دانشجویی نجات مهدیه nejat mahdieh deputy of research and technology, ministry of health and medical education, tehran, iran2- معاونت تحقیقات و فناوری، وزارت بهداشت، درمان و آموزش پزشکی

بیماری فیبروزکیستیک (cystic fibrosis, cf)یکی از کشنده ترین اختلالات چند سیستمی و شایع ترین بیماری مغلوب اتوزومی در سفید پوستان است. علت اصلی این بیماری، جهش در ژن پروتئیی به نام (cystic fibrosis transmembrane conductive regulator) cftr است. جهش های متعددی در ژن cftr گزارش شده است که منجر به کاهش کارکرد پروتئین cftr و بروز فنوتیپ بیماری می شود. شایع ترین جهش، δf508، یا حذف فنیل آلانین در موقعیت ...

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...

Elham Parsi Mehr, Hanieh Zare, Hossein Najmabadi, Maryam Beheshtian, Marzieh Mohseni, Mohammad Razzaghmanesh,

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 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...

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: :Journal of medical genetics 1998
F Mansergh T Meitinger G Rodolph P Humphries G J Farrar

4 Fanen P, Ghanem N, Vidaud M, et al. Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 1992;13:770-6. 5 Ferec C, Audrezet MP, Mercier B, et al. Detection of over 98% cystic fibrosis mutations in a Celtic population. Nat Genet 1992;1: ...

Journal: :hepatitis monthly 0
giuseppe fabio parisi department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy giovanna di dio department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy chiara franzonello department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy alessia gennaro department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy novella rotolo department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy elena lionetti department of medical and pediatric science, bronchopneumology and cystic fibrosis unit, university of catania, catania, italy

context cystic fibrosis (cf) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the caucasian population. as the median survival has increased related to early multidisciplinary intervention, other manifestations of cf have emergedespecially for the broad spectrum of hepatobiliary involvement. the present study reviews the existing literature on liv...

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...

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