FPC in ARPKD
نویسندگان
چکیده
منابع مشابه
Screening in Familial Pancreatic Cancer (fpc)
A. Definition of FPC A number of genetic syndromes (e.g., BRCA1/2, HNPCC, FAMMM, Peutz Jeghers syndrome) predispose kindreds to a variable but higher-thanaverage risk of developing PC (Table 1). The term familial PC (FPC) has been used for families with 2 or more first-degree relatives (FDR) with PC not associated with another described familial hereditary cancer syndrome. In this paper the ter...
متن کاملPolycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarity.
Autosomal recessive polycystic kidney disease (ARPKD) is a significant hereditary renal disease occurring in infancy and childhood, which presents with greatly enlarged echogenic kidneys, ultimately leading to renal insufficiency and end-stage renal disease. ARPKD is caused by mutations in a single gene PKHD1, which encodes fibrocystin/polyductin (FPC), a large single transmembrane protein gene...
متن کاملGames and definability for FPC
A new games model of the language FPC, a type theory with products, sums, function spaces and recursive types, is described. A definability result is proved, showing that every finite element of the model is the interpretation of some term of the language. §
متن کامل[Autosomal recessive polycystic kidney disease (ARPKD)].
Autosomal recessive polycystic kidney disease (ARPKD) is an important hereditary early childhood nephropathy. However, the clinical ARPKD spectrum is much more variable than is generally presumed. Presentation of ARPKD at a later age and survival into adulthood is well known. Diagnostic criteria, clinical course, differential diagnoses, genetics and molecular biology will be discussed along wit...
متن کاملActivation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) [MIM 263200] belongs to a group of congenital hepatorenal fibrocystic syndromes and is caused by mutations in the PKHD1 gene encoding the multidomain protein fibrocystin/polyductin (FPC). The serine-threonine kinase mammalian target of rapamycin (mTOR) is one of the most important gate-keepers integrating numerous signals related ...
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ژورنال
عنوان ژورنال: Nature Reviews Nephrology
سال: 2017
ISSN: 1759-5061,1759-507X
DOI: 10.1038/nrneph.2017.114