| 1 | PLPPR4, PRKCSH, TRIM67
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| TRIM67 protein negatively regulates Ras activity through degradation of 80K-H and induces neuritogenesis.
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| Yaguchi H, Okumura F, Takahashi H, Kano T, Kameda H, Uchigashima M, Tanaka S, Watanabe M, Sasaki H, Hatakeyama S.
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| J Biol Chem 287(15):12050-9. doi: 10.1074/jbc.M111.307678. Epub 2012 Feb 15. 2012
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| 2 | 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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| 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 | PCLD2, PRKCSH
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| Hepatocystin is not secreted in cyst fluid of hepatocystin mutant polycystic liver patients.
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| Waanders E, Lameris AL, Op den Camp HJ, Pluk W, Gloerich J, Strijk SP, Drenth JP.
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| J Proteome Res 7(6):2490-5. Epub 2008 Apr 18.
2008
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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | MHP1, PRKCSH
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| A 3-Mb region for the familial hemiplegic migraine locus on 19p13.1-p13.2 : exclusion of PRKCSH as a candidate gene.
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| Ophoff RA, et al.
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| Eur J Hum Genet 4 : 321-328. 1996
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| 12 | PRKCSH
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| Isolation of cDNAs encoding a substrate for protein C : nucleotide sequence and chromosomal mapping of the gene for a human 80K protein.
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| Sakai K, Hirai M, Minoshima S, Kudoh J, Fukuyama R, Shimizu N.
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| Genomics 5 : 309-315. 1989
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| 13 | PRKCSH
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| Assignment of the gene for a protein kinase C substrale, 80K protein, to human chromosome 19.
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| Minoshima S, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1045. 1989
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