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ATP8B1 is essential for maintaining normal hearing.
Stapelbroek JM, Peters TA, van Beurden DH, Curfs JH, Joosten A, Beynon AJ, van Leeuwen BM, van der Velden LM, Bull L, Oude Elferink RP, van Zanten BA, Klomp LW, Houwen RH. Stapelbroek JM, et al. Among authors: bull l. Proc Natl Acad Sci U S A. 2009 Jun 16;106(24):9709-14. doi: 10.1073/pnas.0807919106. Epub 2009 May 28. Proc Natl Acad Sci U S A. 2009. PMID: 19478059 Free PMC article.
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW, Vargas JC, van Mil SW, Pawlikowska L, Strautnieks SS, van Eijk MJ, Juijn JA, Pabón-Peña C, Smith LB, DeYoung JA, Byrne JA, Gombert J, van der Brugge G, Berger R, Jankowska I, Pawlowska J, Villa E, Knisely AS, Thompson RJ, Freimer NB, Houwen RH, Bull LN. Klomp LW, et al. Among authors: bull ln. Hepatology. 2004 Jul;40(1):27-38. doi: 10.1002/hep.20285. Hepatology. 2004. PMID: 15239083
Intestinal bile salt absorption in Atp8b1 deficient mice.
Groen A, Kunne C, Paulusma CC, Kramer W, Agellon LB, Bull LN, Oude Elferink RP. Groen A, et al. J Hepatol. 2007 Jul;47(1):114-22. doi: 10.1016/j.jhep.2007.02.011. Epub 2007 Mar 7. J Hepatol. 2007. PMID: 17448567
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice.
Groen A, Kunne C, Jongsma G, van den Oever K, Mok KS, Petruzzelli M, Vrins CL, Bull L, Paulusma CC, Oude Elferink RP. Groen A, et al. Among authors: bull l. Gastroenterology. 2008 Jun;134(7):2091-100. doi: 10.1053/j.gastro.2008.02.097. Epub 2008 Mar 8. Gastroenterology. 2008. PMID: 18466903
230 results