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Journal Abstract Search

169 related items for PubMed ID: 30652979

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. Somatic second-hit mutations leads to polycystic liver diseases.
    Banales JM, Munoz-Garrido P, Bujanda L.
    World J Gastroenterol; 2013 Jan 07; 19(1):141-3. PubMed ID: 23326178
    [Abstract] [Full Text] [Related]

  • 3. Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease.
    Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Bañales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audrézet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC.
    Am J Hum Genet; 2016 Jun 02; 98(6):1193-1207. PubMed ID: 27259053
    [Abstract] [Full Text] [Related]

  • 4. Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease.
    Mahboobipour AA, Ala M, Safdari Lord J, Yaghoobi A.
    Orphanet J Rare Dis; 2024 Apr 26; 19(1):175. PubMed ID: 38671465
    [Abstract] [Full Text] [Related]

  • 5. Genetics and mechanisms of hepatic cystogenesis.
    van de Laarschot LFM, Drenth JPH.
    Biochim Biophys Acta Mol Basis Dis; 2018 Apr 26; 1864(4 Pt B):1491-1497. PubMed ID: 28782656
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 3(5):100345. PubMed ID: 34568801
    [Abstract] [Full Text] [Related]

  • 7. 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 26; 72(3):691-703. PubMed ID: 12529853
    [Abstract] [Full Text] [Related]

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  • 9. Polycystic liver disease: ductal plate malformation and the primary cilium.
    Wills ES, Roepman R, Drenth JP.
    Trends Mol Med; 2014 May 26; 20(5):261-70. PubMed ID: 24506938
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 30(5):431-6. PubMed ID: 26365003
    [Abstract] [Full Text] [Related]

  • 12. [Cystic liver diseases. Genetics and cell biology].
    Housset C.
    Gastroenterol Clin Biol; 2005 Sep 01; 29(8-9):861-9. PubMed ID: 16294159
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 141(6):2056-2063.e2. PubMed ID: 21856269
    [Abstract] [Full Text] [Related]

  • 14. 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 08; 111(14):5343-8. PubMed ID: 24706814
    [Abstract] [Full Text] [Related]

  • 15. 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 08; 27(8):830. PubMed ID: 16835903
    [Abstract] [Full Text] [Related]

  • 16. 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 Sep 01; 127(9):3558. PubMed ID: 28862642
    [Abstract] [Full Text] [Related]

  • 17. 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 Sep 01; 7(11):e50324. PubMed ID: 23209713
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. 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 19; 43(7):639-47. PubMed ID: 21685914
    [Abstract] [Full Text] [Related]

  • 20. Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.
    Wills ES, Te Morsche RHM, van Reeuwijk J, Horn N, Geomini I, van de Laarschot LFM, Mans DA, Ueffing M, Boldt K, Drenth JPH, Roepman R.
    Hum Mol Genet; 2017 Nov 01; 26(21):4190-4202. PubMed ID: 28973524
    [Abstract] [Full Text] [Related]

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