These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
6. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Waanders E; te Morsche RH; de Man RA; Jansen JB; Drenth JP Hum Mutat; 2006 Aug; 27(8):830. PubMed ID: 16835903 [TBL] [Abstract][Full Text] [Related]
7. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Drenth JP; Tahvanainen E; te Morsche RH; Tahvanainen P; Kääriäinen H; Höckerstedt K; van de Kamp JM; Breuning MH; Jansen JB Hepatology; 2004 Apr; 39(4):924-31. PubMed ID: 15057895 [TBL] [Abstract][Full Text] [Related]
8. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Fedeles SV; Tian X; Gallagher AR; Mitobe M; Nishio S; Lee SH; Cai Y; Geng L; Crews CM; Somlo S Nat Genet; 2011 Jun; 43(7):639-47. PubMed ID: 21685914 [TBL] [Abstract][Full Text] [Related]
9. Genetics of polycystic liver diseases. Lee-Law PY; van de Laarschot LFM; Banales JM; Drenth JPH Curr Opin Gastroenterol; 2019 Mar; 35(2):65-72. PubMed ID: 30652979 [TBL] [Abstract][Full Text] [Related]
10. It's not all in the cilium, but on the road to it: genetic interaction network in polycystic kidney and liver diseases and how trafficking and quality control matter. Bergmann C; Weiskirchen R J Hepatol; 2012 May; 56(5):1201-1203. PubMed ID: 22133568 [TBL] [Abstract][Full Text] [Related]
11. Loss of heterozygosity is present in SEC63 germline carriers with polycystic liver disease. Janssen MJ; Salomon J; Te Morsche RH; Drenth JP PLoS One; 2012; 7(11):e50324. PubMed ID: 23209713 [TBL] [Abstract][Full Text] [Related]
12. Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Cnossen WR; te Morsche RH; Hoischen A; Gilissen C; Chrispijn M; Venselaar H; Mehdi S; Bergmann C; Veltman JA; Drenth JP Proc Natl Acad Sci U S A; 2014 Apr; 111(14):5343-8. PubMed ID: 24706814 [TBL] [Abstract][Full Text] [Related]