Minigene-based splice assays provide new insights on intronic variants of the PKHD1 gene [PDF]
Human GenomicsBackground Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare hereditary disorder caused by variants in PKHD1. Currently, aberrant splicing has been reported to play important roles in genetic disease.
Yiyin Zhang +12 more
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Scientific Reports, 2017 Autosomal recessive polycystic kidney disease (ARPKD) is an important childhood nephropathy, occurring 1 in 20,000 live births. The major clinical phenotypes are expressed in the kidney with dilatation of the collecting ducts, systemic hypertension, and ...
Jun-ya Kaimori +18 more
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Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome [PDF]
Frontiers in GeneticsBackgroundCaroli disease (CD) and Caroli syndrome (CS) are rare inherited disorders characterized by dilatation of intrahepatic bile ducts, caused by PKHD1 pathogenic variants.
Hui Huang +6 more
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Challenging Disease Ontology by Instances of Atypical PKHD1 and PKD1 Genetics [PDF]
Frontiers in Genetics, 2021 BackgroundAutosomal polycystic kidney disease is distinguished into dominant (ADPKD) and recessive (ARPKD) inheritance usually caused by either monoallelic (PKD1/PKD2) or biallelic (PKHD1) germline variation. Clinical presentations are genotype-dependent
Jonathan de Fallois +5 more
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Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1 [PDF]
Frontiers in Molecular Biosciences, 2023 Transcription factor Ap2b (TFAP2B), an AP-2 family transcription factor, binds to the palindromic consensus DNA sequence, 5′-GCCN3-5GGC-3’. Mice lacking functional Tfap2b gene die in the perinatal or neonatal period with cystic dilatation of the kidney ...
Maoqing Wu +6 more
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Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease [PDF]
Frontiers in PediatricsBackgroundBiallelic pathogenic variants in PKHD1 cause a highly heterogenous disease, predominantly involving the kidneys and liver. Although the correlation between genotype and phenotype remains unclear, many variants in this gene have been described ...
Jonathan Marquez +11 more
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Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]
PLoS ONE, 2014 Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed.
Michaela Drögemüller +15 more
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Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles [PDF]
BMC Nephrology, 2020 Background PKHD1 is the main genetic cause of autosomal recessive polycystic kidney disease (ARPKD), a hereditary hepato-renal fibrocystic disorder which is the most important cause of end-stage renal disease during early childhood.
Elisa Molinari +3 more
doaj +4 more sources
A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease [PDF]
Frontiers in Genetics, 2023 Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao +6 more
doaj +2 more sources
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