نتایج جستجو برای: ژن cftr
تعداد نتایج: 21533 فیلتر نتایج به سال:
نازایی یکی از معضلات مهم زندگی بشری است که در بسیاری از موارد موجب گسیختگی زوجها و مشکلات و عوارض بعدی در زندگی اجتماعی می گردد. بعضی جهش ها در ژن تنظیم کننده هدایت غشایی سیستیک فیبروزیس (cftr) مسئوول ناباروری در مردان می باشد. اگزون 10 ژن cftr به منظور بررسی جهش یا آنالیز پلی مورفیسم انتخاب شد. پرایمرهای ویژه برای مطالعه پلی مورفیسم m469i طراحی و تغییرات اندکی در آنها ایجاد گردید. پرایمرهای و...
Background: Chlamydia (C.) trachomatis is an obligate intracellular gram-negative pathogen affecting over 600 million people worldwide with 92 million new cases occurring globally each year. Genital C. trachomatis infection has been recognized as the most common cause of pelvic inflammatory disease leading to severe tubal damage, ectopic pregnancy, hydrosalpinx and infertility. However, the mec...
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...
introduction: the cystic fibrosis transmembrane conductance regulator (cftr) chloride (cl−) channel is an essential component of epithelial cl− transport systems in many organs. cftr is mainly expressed in the lung and other tissues, such as testis, duodenum, trachea and kidney. the ubiquitin ligase neural precursor cells expressed developmentally down-regulated protein 4-2 (nedd4-2) has previo...
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...
Background: Mayer - Rokitansky - Kuster - Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. Congenital anomaly of the female genital tract, estimated to occur in approximately 1 in every 5,000 females. It is caused by a failure of deve...
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...
The cystic fibrosis transmembrane conductance regulator (CFTR) is a chloride channel that is expressed in many epithelia and in the heart. Phosphorylation of CFTR by protein kinases is thought to be an absolute prerequisite for the opening of CFTR channels. In addition, nucleoside triphosphates were shown to regulate the opening of phosphorylated CFTR. Here, we report that phosphatidylinositol ...
The cystic fibrosis (Cftr and multidrug resistance (Mdr1) genes encode structurally similar proteins which are members of the ABC transporter superfamily. These genes exhibit complementary patterns of expression in vivo, suggesting that the regulation of their expression may be co-ordinated. We have tested this hypothesis in vivo by examining Cftr and Mdr1 expression in cystic fibrosis knockout...
We have previously identified the cystic fibrosis transmembrane regulator (CFTR)-interacting protein CAL and demonstrated that CAL modulates CFTR plasma membrane expression by retaining CFTR within the cell. Here, we report that in addition to regulating membrane expression, CAL also regulates the expression of mature CFTR. The co-expression of hemagglutinin-tagged or Myc-tagged CAL with green ...
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