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Journal Abstract Search

201 related items for PubMed ID: 23326178

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  • 4. 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
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  • 5. Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.
    Cnossen WR, Maurits JS, Salomon J, Te Morsche RH, Waanders E, Drenth JP.
    J Clin Lab Anal; 2016 Sep; 30(5):431-6. PubMed ID: 26365003
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  • 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
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  • 7. Isolated polycystic liver disease genes define effectors of polycystin-1 function.
    Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S.
    J Clin Invest; 2017 May 01; 127(5):1772-1785. PubMed ID: 28375157
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  • 9. Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes.
    Wills ES, Cnossen WR, Veltman JA, Woestenenk R, Steehouwer M, Salomon J, Te Morsche RH, Huch M, Hehir-Kwa JY, Banning MJ, Pfundt R, Roepman R, Hoischen A, Drenth JP.
    Eur J Hum Genet; 2016 Dec 01; 24(12):1707-1714. PubMed ID: 27552964
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  • 11. Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.
    Schönauer R, Sierks D, Boerrigter M, Jawaid T, Caroff L, Audrezet MP, Friedrich A, Shaw M, Degenhardt J, Forberger M, de Fallois J, Bläker H, Bergmann C, Gödiker J, Schindler P, Schlevogt B, Müller RU, Berg T, Patterson I, Griffiths WJ, Sayer JA, Genomics England Research Consortium, Popp B, Torres VE, Hogan MC, Somlo S, Watnick TJ, Nevens F, Besse W, Cornec-Le Gall E, Harris PC, Drenth JPH, Halbritter J.
    Gastroenterology; 2024 May 01; 166(5):902-914. PubMed ID: 38101549
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  • 17. 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 01; 78(1):47-56. PubMed ID: 20095989
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  • 18. Autophagy-mediated reduction of miR-345 contributes to hepatic cystogenesis in polycystic liver disease.
    Masyuk T, Masyuk A, Trussoni C, Howard B, Ding J, Huang B, LaRusso N.
    JHEP Rep; 2021 Oct 01; 3(5):100345. PubMed ID: 34568801
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  • 19. 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 01; 52(3):432-40. PubMed ID: 20138683
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  • 20. Heterozygosity of ALG9 in Association with Autosomal Dominant Polycystic Liver Disease.
    Boerrigter MM, Duijzer R, Te Morsche RHM, Drenth JPH.
    Genes (Basel); 2023 Sep 02; 14(9):. PubMed ID: 37761895
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