Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1
نویسندگان
چکیده
منابع مشابه
Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
BACKGROUND Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12, a large gene spanning 470 kb of genomic DNA. So far, only micromutations in the 66 exons encoding the longest open reading frame (ORF) have been described, and account for about 80% of mutations. OBJECTIVE To test the hypothesi...
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 ...
متن کاملTissue-specific regulation of the mouse Pkhd1 (ARPKD) gene promoter.
Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 (PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated. Here, we show that a 2.0-kb genomic fragment containing the proximal promoter of mou...
متن کاملIdentification of a Novel Intragenic Deletion of the PHKD1 Gene in a Patient with Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1gene. In the present study, we describe a severe case of ARPKD carrying a point mutation and a novel four-exon deletion of PKHD1 gene. Materials and Methods The PKHD1, PKD1 and PKD2 ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2002
ISSN: 0031-3998,1530-0447
DOI: 10.1203/01.pdr.0000042040.36122.75