Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
نویسندگان
چکیده
منابع مشابه
Guanylate cyclase 2C agonism corrects CFTR mutants.
Cystic fibrosis (CF) is a genetic disorder in which epithelium-generated fluid flow from the lung, intestine, and pancreas is impaired due to mutations disrupting CF transmembrane conductance regulator (CFTR) channel function. CF manifestations of the pancreas and lung are present in the vast majority of CF patients, and 15% of CF infants are born with obstructed gut or meconium ileus. However,...
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Cystic fibrosis (CF) pigs develop disease with features remarkably similar to those in people with CF, including exocrine pancreatic destruction, focal biliary cirrhosis, micro-gallbladder, vas deferens loss, airway disease, and meconium ileus. Whereas meconium ileus occurs in 15% of babies with CF, the penetrance is 100% in newborn CF pigs. We hypothesized that transgenic expression of porcine...
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OBJECTIVE To describe the phenotype in 4 families with dominantly inherited cone-rod dystrophy, 1 with an R838C mutation and 1 with an R838H mutation in the guanylate cyclase 2D (GUCY2D) gene encoding retinal guanylate cyclase-1. METHODS Psychophysical and electrophysiological evaluation and confocal laser scanning ophthalmoscopic imaging was performed on 10 affected members of 4 British fami...
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Detailed biochemical, structural and physiological studies of the role of Ca2(+)-binding proteins in mammalian retinal neurons have yielded new insights into the function of these proteins in normal and pathological states. In phototransduction, a biochemical process that is responsible for the conversion of light into an electrical impulse, guanylate cyclases (GCs) are regulated by GC-activati...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2012
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.03.022