منابع مشابه
CFTR gene and male fertility.
Secretion of electrolytes and water by the epididymal epithelium is important in the formation an optimal fluid environment for sperm maturation and transport. This process is disrupted in the genetic disease cystic fibrosis caused by mutation of the cystic fibrosis transmemebrane conductance regulator (CFTR) gene. Recent findings of CFTR gene mutations in healthy men with congenital bilateral ...
متن کاملRegulation of male fertility by CFTR and implications in male infertility.
BACKGROUND The cystic fibrosis transmembrane conductance regulator (CFTR) is a cAMP-activated Cl(-) and HCO(3)(-) conducting channel, mutations of which are known to be associated with male infertility. However, the underlying mechanisms remain elusive. METHODS Literature databases were searched for papers on the topics related to CFTR and male fertility and infertility with relevant keywords...
متن کاملGq activity- and β-arrestin-1 scaffolding-mediated ADGRG2/CFTR coupling are required for male fertility
Luminal fluid reabsorption plays a fundamental role in male fertility. We demonstrated that the ubiquitous GPCR signaling proteins Gq and β-arrestin-1 are essential for fluid reabsorption because they mediate coupling between an orphan receptor ADGRG2 (GPR64) and the ion channel CFTR. A reduction in protein level or deficiency of ADGRG2, Gq or β-arrestin-1 in a mouse model led to an imbalance i...
متن کاملexon 10 cftr gene mutation in male infertility
background: about 10% of infertilities with obstructive azoospermia are congenital and caused by cf gene mutations. m469i mutation was observed for the first time in taiwanese patients. this mutation not only causes cf, but also may be the origin of infertility too. objective: in this study, we aimed in designing a rapid, reliable rflp-pcr procedure for detection of m469i mutation. the correlat...
متن کاملExon 10 CFTR gene mutation in male infertility
BACKGROUND About 10% of infertilities with obstructive azoospermia are congenital and caused by CF gene mutations. M469I mutation was observed for the first time in Taiwanese patients. This mutation not only causes CF, but also may be the origin of infertility too. OBJECTIVE In this study, we aimed in designing a rapid, reliable RFLP-PCR procedure for detection of M469I mutation. The correlat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Human Reproduction
سال: 1998
ISSN: 1460-2407
DOI: 10.1093/molehr/4.2.107