193 related articles for article (PubMed ID: 12577059)
1. Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease.
Drenth JP; te Morsche RH; Smink R; Bonifacino JS; Jansen JB
Nat Genet; 2003 Mar; 33(3):345-7. PubMed ID: 12577059
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Secondary, somatic mutations might promote cyst formation in patients with autosomal dominant polycystic liver disease.
Janssen MJ; Waanders E; Te Morsche RH; Xing R; Dijkman HB; Woudenberg J; Drenth JP
Gastroenterology; 2011 Dec; 141(6):2056-2063.e2. PubMed ID: 21856269
[TBL] [Abstract][Full Text] [Related]
5. [From gene to disease; hepatocystin and autosomal dominant polycystic liver disease].
Jansen JB; Morsche RH; Drenth JP
Ned Tijdschr Geneeskd; 2003 Jul; 147(29):1408-12. PubMed ID: 12894465
[TBL] [Abstract][Full Text] [Related]
6. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Li A; Davila S; Furu L; Qian Q; Tian X; Kamath PS; King BF; Torres VE; Somlo S
Am J Hum Genet; 2003 Mar; 72(3):691-703. PubMed ID: 12529853
[TBL] [Abstract][Full Text] [Related]
7. Polycystic liver disease is a disorder of cotranslational protein processing.
Drenth JP; Martina JA; van de Kerkhof R; Bonifacino JS; Jansen JB
Trends Mol Med; 2005 Jan; 11(1):37-42. PubMed ID: 15649821
[TBL] [Abstract][Full Text] [Related]
8. Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients.
Waanders E; Lameris AL; Op den Camp HJ; Pluk W; Gloerich J; Strijk SP; Drenth JP
J Proteome Res; 2008 Jun; 7(6):2490-5. PubMed ID: 18419150
[TBL] [Abstract][Full Text] [Related]
9. Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Davila S; Furu L; Gharavi AG; Tian X; Onoe T; Qian Q; Li A; Cai Y; Kamath PS; King BF; Azurmendi PJ; Tahvanainen P; Kääriäinen H; Höckerstedt K; Devuyst O; Pirson Y; Martin RS; Lifton RP; Tahvanainen E; Torres VE; Somlo S
Nat Genet; 2004 Jun; 36(6):575-7. PubMed ID: 15133510
[TBL] [Abstract][Full Text] [Related]
10. Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease.
Janssen MJ; Waanders E; Woudenberg J; Lefeber DJ; Drenth JP
J Hepatol; 2010 Mar; 52(3):432-40. PubMed ID: 20138683
[TBL] [Abstract][Full Text] [Related]
11. A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2: exclusion of PRKCSH as a candidate gene. Dutch Migraine Genetic Research Group.
Ophoff RA; Terwindt GM; Vergouwe MN; van Eijk R; Mohrenweiser H; Litt M; Hofker MH; Haan J; Ferrari MD; Frants RR
Eur J Hum Genet; 1996; 4(6):321-8. PubMed ID: 9043864
[TBL] [Abstract][Full Text] [Related]
12. PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.
Vouk K; Strmecki L; Stekrova J; Reiterova J; Bidovec M; Hudler P; Kenig A; Jereb S; Zupanic-Pajnic I; Balazic J; Haarpaintner G; Leskovar B; Adamlje A; Skoflic A; Dovc R; Hojs R; Komel R
BMC Med Genet; 2006 Jan; 7():6. PubMed ID: 16430766
[TBL] [Abstract][Full Text] [Related]
13. Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
Waanders E; Croes HJ; Maass CN; te Morsche RH; van Geffen HJ; van Krieken JH; Fransen JA; Drenth JP
Histochem Cell Biol; 2008 Mar; 129(3):301-10. PubMed ID: 18224332
[TBL] [Abstract][Full Text] [Related]
14. Multiple cysts in the liver autosomal dominant polycystic liver disease.
Karimbeg AA; Loffeld RJ
Neth J Med; 2006 Jun; 64(6):199-201. PubMed ID: 16788219
[TBL] [Abstract][Full Text] [Related]
15. Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
Waanders E; Venselaar H; te Morsche RH; de Koning DB; Kamath PS; Torres VE; Somlo S; Drenth JP
Clin Genet; 2010 Jul; 78(1):47-56. PubMed ID: 20095989
[TBL] [Abstract][Full Text] [Related]
16. Polycystic liver: clinical characteristics of patients with isolated polycystic liver disease compared with patients with polycystic liver and autosomal dominant polycystic kidney disease.
Hoevenaren IA; Wester R; Schrier RW; McFann K; Doctor RB; Drenth JP; Everson GT
Liver Int; 2008 Feb; 28(2):264-70. PubMed ID: 17927714
[TBL] [Abstract][Full Text] [Related]
17. Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.
Drenth JP; Martina JA; Te Morsche RH; Jansen JB; Bonifacino JS
Gastroenterology; 2004 Jun; 126(7):1819-27. PubMed ID: 15188177
[TBL] [Abstract][Full Text] [Related]
18. Feline polycystic kidney disease mutation identified in PKD1.
Lyons LA; Biller DS; Erdman CA; Lipinski MJ; Young AE; Roe BA; Qin B; Grahn RA
J Am Soc Nephrol; 2004 Oct; 15(10):2548-55. PubMed ID: 15466259
[TBL] [Abstract][Full Text] [Related]
19. [Molecular genetic diagnosis of autosomal dominant polycystic kidney disease].
Reiterová J; Merta M; Stekrová J; Tesar V
Sb Lek; 2002; 103(4):435-42. PubMed ID: 12688156
[TBL] [Abstract][Full Text] [Related]
20. PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Gao H; Wang Y; Wegierski T; Skouloudaki K; Pütz M; Fu X; Engel C; Boehlke C; Peng H; Kuehn EW; Kim E; Kramer-Zucker A; Walz G
Hum Mol Genet; 2010 Jan; 19(1):16-24. PubMed ID: 19801576
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]