Isolated polycystic liver disease genes define effectors of polycystin-1 function
نویسندگان
چکیده
منابع مشابه
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelate...
متن کاملIsolated polycystic liver disease.
Isolated polycystic liver disease (PCLD) is an autosomal dominant disease with genetic and clinical heterogeneity. Apart from liver cysts, it exhibits few extrahepatic manifestations, and the majority of patients with this condition are asymptomatic or subclinical. However, a small fraction of these patients develop acute liver cyst-related complications and/or massive cystic liver enlargement,...
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Autosomal dominant polycystic kidney disease (ADPKD), a most common genetic cause of chronic renal failure, is characterized by the progressive development and enlargement of cysts in kidneys and other organs. The cystogenic process is highly complex and involves a high proliferative rate, increased apoptosis, altered protein sorting, changed secretory characteristics, and disorganization of th...
متن کاملMutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.1. Expansion o...
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Recent work has uncovered a functional link between polycystin-1 (PC1), the protein affected in autosomal-dominant polycystic kidney disease (ADPKD) and tuberin, the protein affected in tuberous sclerosis complex (TSC). These data suggest that PC1 functions by inducing the formation of a complex with tuberin and the Ser/Thr kinase mTOR thereby inhibiting mTOR activity. In normal, adult kidney, ...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2017
ISSN: 0021-9738,1558-8238
DOI: 10.1172/jci90129