A missense mutation in FIC1 is associated with greenland familial cholestasis
Tài liệu tham khảo
Clayton, 1969, Byler disease: fatal familial intrahepatic cholestasis in an Amish kindred, Am J Dis Child, 117, 112, 10.1001/archpedi.1969.02100030114014
Arrese, 1998, Hepatobiliary transport: molecular mechanisms of development and cholestasis., Pediatr Res, 44, 141, 10.1203/00006450-199808000-00001
Jacquemin, 1999, Genetic basis of progressive familial intrahepatic cholestasis, J Hepatol, 31, 377, 10.1016/S0168-8278(99)80240-2
Knisely, 2000, Progressive familial intrahepatic cholestasis: a personal perspective, Pediatr Dev Pathol, 3, 113, 10.1007/s100240050016
Houwen, 1994, Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis, Nat Genet, 8, 380, 10.1038/ng1294-380
Carlton, 1995, Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region, Hum Mol Genet, 4, 1049, 10.1093/hmg/4.6.1049
Sinke, 1997, Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64, Hum Genet, 100, 382, 10.1007/s004390050520
Bull, 1998, A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis, Nat Genet, 18, 219, 10.1038/ng0398-219
Bull, 1999, Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC, Hum Genet, 104, 241, 10.1007/PL00008714
Strautnieks, 1997, Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24, Am J Hum Genet, 61, 630, 10.1086/515501
Gerloff, 1998, The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver, J Biol Chem, 273, 10046, 10.1074/jbc.273.16.10046
Strautnieks, 1998, A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis, Nat Genet, 20, 233, 10.1038/3034
de Vree, 1998, Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis, Proc Natl Acad Sci U S A, 95, 282, 10.1073/pnas.95.1.282
Nielsen, 1986, Fatal familial cholestatic syndrome in Greenland Eskimo children., Acta Paediatr Scand, 75, 1010, 10.1111/j.1651-2227.1986.tb10332.x
Eiberg, 2000, Linkage of cholestasis familiaris groenlandica/Byler-like disease to chromosome 18, Int J Circumpolar Health, 59, 57
Bull, 1997, Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity, Hepatology, 26, 155, 10.1002/hep.510260121
Eiberg, 1993, Linkage studies of cholestasis familiaris groenlandica/Byler-like disease with polymorphic protein and blood group markers, Hum Hered, 43, 250, 10.1159/000154139
Kahn, 1991, Paucity of interlobular bile ducts: arteriohepatic dysplasia and nonsyndromic duct paucity, Perspect Pediatr Pathol, 14, 168
Milman, 1992, Serum ferritin in a Greenlandic Inuit hunter population from the Thule district, Arctic Med Res, 51, 10
Tazawa, 1988, Byler byou, Syoukakika, 9, 543
Ørnvold, 1989, Fatal familial cholestatic syndrome in Greenland Eskimo children: a histomorphological analysis of 16 cases, Virchows Arch A Pathol Anat Histopathol, 415, 275, 10.1007/BF00724915
Catty, 1997, The complete inventory of the yeast Saccharomyces cerevisiae P-type transport ATPases, FEBS lett, 409, 325, 10.1016/S0014-5793(97)00446-8
Halleck, 1998, Multiple members of a third subfamily of P-type ATPases identified by genomic sequences and ESTs, Genome Res, 8, 354, 10.1101/gr.8.4.354
Tang, 1996, A subfamily of P-type ATPases with aminophospholipid transporting activity, Science, 272, 1495, 10.1126/science.272.5267.1495
Siegmund, 1998, Loss of Drs2p does not abolish transfer of fluorescence-labeled phospholipids across the plasma membrane of Saccharomyces cerevisiae, J Biol Chem, 273, 34399, 10.1074/jbc.273.51.34399
Chen, 1999, Role for Drs2p, a P-type ATPase and potential aminophospholipid translocase, in yeast late Golgi function, J Cell Biol, 147, 1223, 10.1083/jcb.147.6.1223
Oswalt, 1999, Eskimos and explorers.
