| 1 | NXN, PCLD1, PCLD2, PRKCSH, SEC63
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| An interaction between human Sec63 and nucleoredoxin may provide the missing link between the SEC63 gene and polycystic liver disease.
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| Müller L, Funato Y, Miki H, Zimmermann R.
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| FEBS Lett 585(4):596-600. Epub 2011 Jan 18. 2011
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| 2 | PCLD1, PCLD2
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| Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases.
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| Van Keimpema L, De Koning DB, Van Hoek B, Van Den Berg AP, Van Oijen MG, De Man RA, Nevens F, Drenth JP.
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| Liver Int 31(1):92-8. doi: 10.1111/j.1478-3231.2010.02247.x.
2011
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| 3 | PCLD1, PCLD2, PKD1, PKD2, PKHD1, PRKCSH, SEC63
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| A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
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| Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S.
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| Nat Genet 43(7):639-47. doi: 10.1038/ng.860.
2011
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| 4 | PCLD1, PCLD2, PRKCSH, SEC63
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| Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63.
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| Waanders E, Venselaar H, te Morsche RH, de Koning DB, Kamath PS, Torres VE, Somlo S, Drenth JP.
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| Clin Genet 78(1):47-56. Epub 2010 Jan 20.
2010
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| 5 | PCLD1, PCLD2, PRKCSH, SEC63
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| Cysts of PRKCSH mutated polycystic liver disease patients lack hepatocystin but express Sec63p.
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| Waanders E, Croes HJ, Maass CN, te Morsche RH, van Geffen HJ, van Krieken JH, Fransen JA, Drenth JP.
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| Histochem Cell Biol 129(3):301-10. Epub 2008 Jan 26.
2008
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| 6 | PCLD1, PCLD2, PRKCSH, SEC63
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| Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease.
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| Waanders E, te Morsche RH, de Man RA, Jansen JB, Drenth JP.
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| Hum Mutat 27(8):830.
2006
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| 7 | PRKCSH, PCLD1
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| Molecular characterization of hepatocystin, the protein that is defective in autosomal dominant polycystic liver disease.
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| Drenth JP, Martina JA, Te Morsche RH, Jansen JB, Bonifacino JS.
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| Gastroenterology 126(7):1819-27. 2004
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| 8 | MAN2B1, NACC1, PCLD1, PRKCSH, SLC44A2, TSPAN16
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| Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease
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| Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S.
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| Am J Hum Genet 72(3):691-703. 2003
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| 9 | PCLD1, PRKCSH
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| Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease
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| Drenth JP, te Morsche RH, Smink R, Bonifacino JS, Jansen JB.
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| Nat Genet 33(3):345-7. 2003
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| 10 | PCLD1
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| Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1.
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| Reynolds DM, Falk CT, Li A, King BF, Kamath PS, Huston J 3rd, Shub C, Iglesias DM, Martin RS, Pirson Y, Torres VE, Somlo S.
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| Am J Hum Genet 67(6):1598-604. 2000
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