Associated Papers
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease.
Khin E et al.
Cureus, 2024
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
Harafuji N et al.
Frontiers in Cell and Developmental Biology, 2023
38125876 (PubMed )
Supplement: Table1.xlsx › Supp_Table_S1_ARPKD
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S et al.
Kidney International, 2003
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2003
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ et al.
Nature Genetics, 2002
Autosomal recessive polycystic kidney disease (ARPKD).
Zerres K et al.
Journal of Nephrology, 0
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