Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
Schönauer R et al.
Gastroenterology, 2024
A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease.
Waddell SH et al.
Science Translational Medicine, 2023
Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
Boerrigter MM et al.
Genes, 2023
Novel α-1,3-Glucosyltransferase Variants and Their Broad Clinical Polycystic Liver Disease Spectrum.
Boerrigter MM et al.
Genes, 2023
Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets.
Santos-Laso A et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2020
Somatic second-hit mutations leads to polycystic liver diseases.
Banales JM et al.
World Journal of Gastroenterology, 2013
Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E et al.
Clinical Genetics, 2010
Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Waanders E et al.
Histochemistry and Cell Biology, 2008
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
Waanders E et al.
Human Mutation, 2006
Genetics of hepatobiliary diseases.
Juran BD et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2006
Polycystic liver disease is a disorder of cotranslational protein processing.
Drenth JP et al.
Trends in Molecular Medicine, 2005
Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease.
Drenth JP et al.
Hepatology (baltimore, Md.), 2004
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
Drenth JP et al.
Nature Genetics, 2003