Associated Papers
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Lapunzina-Soler P et al.
Genes, 2026
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease.
Topak A
Laboratory Medicine, 2024
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Gezgin Y et al.
Turkish Journal of Medical Sciences, 2024
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
The landscape of tolerated genetic variation in humans and primates.
Gao H et al.
Biorxiv : the Preprint Server for Biology, 2023
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.
Zamani M et al.
Kidney360, 2021
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S et al.
Journal of Human Genetics, 2016
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.
Boddu R et al.
Journal of Molecular Medicine (berlin, Germany), 2014
Aberrant transcriptional regulation could explain phenotypic variability in autosomal recessive polycystic kidney disease.
Luft FC
Journal of Molecular Medicine (berlin, Germany), 2014
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Krall P et al.
Pediatric Nephrology (berlin, Germany), 2014
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
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Kidney International, 2005
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Furu L et al.
Journal of the American Society of Nephrology : Jasn, 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
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.
Onuchic LF et al.
American Journal of Human Genetics, 2002
Autosomal recessive polycystic kidney disease (ARPKD).
Zerres K et al.
Journal of Nephrology, 0