نتایج جستجو برای: connexin 26

تعداد نتایج: 167621  

Journal: :modares journal of medical sciences: pathobiology 2010
atefeh shirkavand nejat mahdieh hamideh bagherian maryam sharafi farzad roghayeh vahidi

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

Journal: :Reproductive biology and endocrinology : RB&E 2008
Graham Hutchings Thomas Gevaert Jan Deprest Tania Roskams Alfons Van Lommel Bernd Nilius Dirk De Ridder

BACKGROUND Myometrial smooth myocytes contract as a result of electrical signalling via a process called excitation-contraction coupling. This process is understood in great detail at the cellular level but the generation and coordination of electrical signals throughout the myometrium are incompletely understood. Recent evidence concerning the vital role of interstitial cells of Cajal in tissu...

A Astani AR Asadi C Nishimura H Najmabadi H Ziaaddini K Kahrizi Kh Jalalvand M Mohseni M Nejat N Bazazzadegan N Mirhoseini RJH Smith S Arzhangi Y Riazalhosseini

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...

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