Unilateral polycystic kidney with PKHD1 gene mutation. [PDF]
Kidney Res Clin PractPark JH, Woo HW, Cho BS, Kim HY.
europepmc +3 more sources
Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1 [PDF]
Pediatric Research, 2002 Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene ...
Lisa M. Guay‐Woodford
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Mutation of hepatocyte nuclear factor–1β inhibits Pkhd1 gene expression and produces renal cysts in mice [PDF]
Journal of Clinical Investigation, 2004 Hepatocyte nuclear factor-1beta (HNF-1beta) is a Pit-1, Oct-1/2, UNC-86 (POU)/homeodomain-containing transcription factor that regulates tissue-specific gene expression in the liver, kidney, and other organs. Humans with autosomal dominant mutations of HNF-1beta develop maturity-onset diabetes of the young type 5 (MODY5) and congenital cystic ...
Thomas Hiesberger +7 more
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Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) [PDF]
Journal of the American Society of Nephrology, 2003 Autosomal recessive polycystic kidney disease (ARPKD/PKHD1) is an important cause of renal-related and liver-related morbidity and mortality in childhood. Recently mutations in the PKHD1 gene on chromosome 6p21.1-p12 have been identified as the molecular cause of ARPKD.
Carsten Bergmann +15 more
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Presence of compound heterozygous mutations in the PKHD1 gene in an asymptomatic patient
Nefrología (English Edition), 2020 María Isabel Luis-Yanes +4 more
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Identification and Characterization of Pkhd1, the Mouse Orthologue of the Human ARPKD Gene [PDF]
Journal of the American Society of Nephrology, 2002 PKHD1, the gene mutated in human autosomal recessive polycystic kidney disease has recently been identified. Its translation products are predicted to belong to a superfamily of proteins involved in the regulation of cellular adhesion and repulsion. One notable aspect of the gene is its unusually complex pattern of splicing. This study shows that mouse
Yasuyuki Nagasawa +16 more
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Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD) [PDF]
Journal of Medical Genetics, 2005 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.To
Carsten Bergmann
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Stem Cell Research, 2021 Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cells (PBMCs) from
Theresa Leonie Fluhr +5 more
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Stem Cell Research, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene.
Mansoureh Tabatabaeifar +5 more
doaj +2 more sources
Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm [PDF]
Kidney International, 2004 PKHD1, the autosomal-recessive polycystic kidney disease (ARPKD) gene, encodes multiple alternatively spliced transcripts predicted to generate membrane-bound and secreted proteins. The longest open reading frame encodes polyductin (fibrocystin), a putative 4074 amino acid protein with a single transmembrane domain and an intracellular C-terminus.To ...
Luís F. Menezes +9 more
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