FP042ATMIN MODULATES PKHD1 EXPRESSION AND THROUGH ALTERED NON-CANONICAL WNT/PLANAR CELL POLARITY (PCP) SIGNALLING MEDIATES ARPKD SEVERITY
نویسندگان
چکیده
منابع مشابه
Tissue-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 کاملComprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
A utosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births. The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well as oligohydramnios secondary to poor urine...
متن کاملCell polarity and cancer--cell and tissue polarity as a non-canonical tumor suppressor.
Correct establishment and maintenance of cell polarity is required for the development and homeostasis of all metazoans. Cell-polarity mechanisms are responsible not only for the diversification of cell shapes but also for regulation of the asymmetric cell divisions of stem cells that are crucial for their correct self-renewal and differentiation. Disruption of cell polarity is a hallmark of ca...
متن کاملMulti-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 کاملLETTER TO JMG Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts
A utosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births. The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well as oligohydramnios secondary to poor urine...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2018
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfy104.fp042