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
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
Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis.
Walker RV et al.
Nature Communications, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.
Ajiri R et al.
Kidney International Reports, 2022
35812281 (PubMed )
Supplement: mmc1.pdf
The carboxy-terminus of the human ARPKD protein fibrocystin can control STAT3 signalling by regulating SRC-activation.
Dafinger C et al.
Journal of Cellular and Molecular Medicine, 2020
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
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Krall P et al.
Pediatric Nephrology (berlin, Germany), 2014
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