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Journal Abstract Search

129 related items for PubMed ID: 28973524

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  • 5. 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
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  • 6. Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.
    Cornec-Le Gall E, Torres VE, Harris PC.
    J Am Soc Nephrol; 2018 Jan 02; 29(1):13-23. PubMed ID: 29038287
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  • 8. 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 02; 24(12):1707-1714. PubMed ID: 27552964
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  • 9. 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
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  • 10. 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
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  • 11. 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 19; 129(3):301-10. PubMed ID: 18224332
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  • 12. 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
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  • 13. 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
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  • 14. 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 07; 27(8):830. PubMed ID: 16835903
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  • 15. 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 07; 3(5):100345. PubMed ID: 34568801
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  • 16. 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 07; 141(6):2056-2063.e2. PubMed ID: 21856269
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  • 17. Polycystic liver disease: ductal plate malformation and the primary cilium.
    Wills ES, Roepman R, Drenth JP.
    Trends Mol Med; 2014 May 07; 20(5):261-70. PubMed ID: 24506938
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  • 18. The zebrafish as a model to study polycystic liver disease.
    Tietz Bogert PS, Huang BQ, Gradilone SA, Masyuk TV, Moulder GL, Ekker SC, Larusso NF.
    Zebrafish; 2013 Jun 07; 10(2):211-7. PubMed ID: 23668934
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  • 19. 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 07; 166(5):902-914. PubMed ID: 38101549
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  • 20. 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 07; 52(3):432-40. PubMed ID: 20138683
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