Gene Review:
ATP8B1 - ATPase, aminophospholipid transporter,...
Homo sapiens
Synonyms:
ATPIC, ATPase class I type 8B member 1, BRIC, FIC1, Familial intrahepatic cholestasis type 1, ...
- Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Alvarez, L., Jara, P., Sánchez-Sabaté, E., Hierro, L., Larrauri, J., Díaz, M.C., Camarena, C., De la Vega, A., Frauca, E., López-Collazo, E., Lapunzina, P. Hum. Mol. Genet. (2004)
- FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Harris, M.J., Arias, I.M. Biochim. Biophys. Acta (2003)
- ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Müllenbach, R., Bennett, A., Tetlow, N., Patel, N., Hamilton, G., Cheng, F., Chambers, J., Howard, R., Taylor-Robinson, S.D., Williamson, C. Gut (2005)
- Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Carlton, V.E., Knisely, A.S., Freimer, N.B. Hum. Mol. Genet. (1995)
- POZ for effect--POZ-ZF transcription factors in cancer and development. Kelly, K.F., Daniel, J.M. Trends Cell Biol. (2006)
- A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Bull, L.N., van Eijk, M.J., Pawlikowska, L., DeYoung, J.A., Juijn, J.A., Liao, M., Klomp, L.W., Lomri, N., Berger, R., Scharschmidt, B.F., Knisely, A.S., Houwen, R.H., Freimer, N.B. Nat. Genet. (1998)
- A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Strautnieks, S.S., Bull, L.N., Knisely, A.S., Kocoshis, S.A., Dahl, N., Arnell, H., Sokal, E., Dahan, K., Childs, S., Ling, V., Tanner, M.S., Kagalwalla, A.F., Németh, A., Pawlowska, J., Baker, A., Mieli-Vergani, G., Freimer, N.B., Gardiner, R.M., Thompson, R.J. Nat. Genet. (1998)
- Benign recurrent intrahepatic cholestasis: altered bile acid metabolism. Bijleveld, C.M., Vonk, R.J., Kuipers, F., Havinga, R., Boverhof, R., Koopman, B.J., Wolthers, B.G., Fernandes, J. Gastroenterology (1989)
- Immunochemical studies on the differential binding properties of two monoclonal antibodies reacting with Tn red cells. King, M.J., Parsons, S.F., Wu, A.M., Jones, N. Transfusion (1991)
- Clinical and biochemical findings in progressive familial intrahepatic cholestasis. Whitington, P.F., Freese, D.K., Alonso, E.M., Schwarzenberg, S.J., Sharp, H.L. J. Pediatr. Gastroenterol. Nutr. (1994)
- A distinctive pattern of serum bile acid and bilirubin concentrations in benign recurrent intrahepatic cholestasis. Summerfield, J.A., Kirk, A.P., Chitranukroh, A., Billing, B.H. Hepatogastroenterology (1981)
- Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Demeilliers, C., Jacquemin, E., Barbu, V., Mergey, M., Paye, F., Fouassier, L., Chignard, N., Housset, C., Lomri, N.E. Hepatology (2006)
- A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Pawlikowska, L., Groen, A., Eppens, E.F., Kunne, C., Ottenhoff, R., Looije, N., Knisely, A.S., Killeen, N.P., Bull, L.N., Elferink, R.P., Freimer, N.B. Hum. Mol. Genet. (2004)
- A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis. Nobili, V., Di Giandomenico, S., Francalanci, P., Callea, F., Marcellini, M., Santorelli, F.M. J. Gastroenterol. (2006)
- Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Kurbegov, A.C., Setchell, K.D., Haas, J.E., Mierau, G.W., Narkewicz, M., Bancroft, J.D., Karrer, F., Sokol, R.J. Gastroenterology (2003)
- Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Morton, D.H., Salen, G., Batta, A.K., Shefer, S., Tint, G.S., Belchis, D., Shneider, B., Puffenberger, E., Bull, L., Knisely, A.S. Gastroenterology (2000)
- Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Jacquemin, E., Hermans, D., Myara, A., Habes, D., Debray, D., Hadchouel, M., Sokal, E.M., Bernard, O. Hepatology (1997)
- Bile salt excretory pump: biology and pathobiology. Suchy, F.J., Ananthanarayanan, M. J. Pediatr. Gastroenterol. Nutr. (2006)
- Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein). Oude Elferink, R.P., Paulusma, C.C. Pflugers Arch. (2007)
- Cholestasis Familiaris Groenlandica/Byler-like disease in Greenland--a population study. Eiberg, H., Nørgaard-Pedersen, B., Nielsen, I.M. International journal of circumpolar health. (2004)
- Progressive familial intrahepatic cholestasis: a personal perspective. Knisely, A.S. Pediatr. Dev. Pathol. (2000)
- Benign recurrent intrahepatic cholestasis. Evidence for an intrinsic abnormality in hepatocyte secretion. Minuk, G.Y., Shaffer, E.A. Gastroenterology (1987)