Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification. [PDF]
Prenat DiagnABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Abaji M +7 more
europepmc +2 more sources
PKHD1 Gene Silencing May Cause Cell Abnormal Proliferation through Modulation of Intracellular Calcium in Autosomal Recessive Polycystic Kidney Disease [PDF]
BMB Reports, 2007 Autosomal recessive polycystic kidney disease (ARPKD) is one of the important genetic disorders in pediatric practice. Mutation of the polycystic kidney and hepatic disease gene 1 (PKHD1) was identified as the cause of ARPKD. The gene encodes a 67-exon transcript for a large protein of 4074 amino acids termed fibrocystin, but its function remains ...
Yang Ji-yun +6 more
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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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An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts.
Goldberg, Itzhak D. +3 more
core +12 more sources
Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter
American Journal of Physiology-Renal Physiology, 2014 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.
R. Scott Williams +7 more
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Renal–hepatic–pancreatic dysplasia: An autosomal recessive condition that is not linked to the PKHD1 gene on chromosome 6p21.1‐p12 [PDF]
American Journal of Medical Genetics Part A, 2007 Kasmintan A. Schrader +4 more
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Quantifying variant contributions in cystic kidney disease using national-scale whole-genome sequencing [PDF]
The Journal of Clinical InvestigationBACKGROUND Cystic kidney disease (CyKD) is a predominantly familial disease in which gene discovery has been led by family-based and candidate gene studies, an approach that is susceptible to ascertainment and other biases.METHODS Using whole-genome ...
Omid Sadeghi-Alavijeh +11 more
doaj +2 more sources
"Análise do padrão de expressão do produto de PKHD1, o gene mutado na doença renal policística autossômica recessiva" [PDF]
, 2004 Luís F. Menezes
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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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