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Volumn 23, Issue 9, 2008, Pages 1390-1393

Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2

Author keywords

ABCB11; Bile salt export pump (BSEP); Cholestasis; Prenatal diagnosis; Progressive familial intrahepatic cholestasis (PFIC)

Indexed keywords

CARRIER PROTEIN; GENOMIC DNA; PROTEIN ABCB11;

EID: 49849098818     PISSN: 08159319     EISSN: 14401746     Source Type: Journal    
DOI: 10.1111/j.1440-1746.2008.05432.x     Document Type: Article
Times cited : (12)

References (17)
  • 1
    • 0000829287 scopus 로고
    • Byler's disease: Fatal familial intrahepatic cholestasis in an Amish kindred
    • Clayton RJ, Iber FL, Ruebner BH et al. Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. J. Pediatr. 1965 67 : 1025 8.
    • (1965) J. Pediatr. , vol.67 , pp. 1025-1028
    • Clayton, R.J.1    Iber, F.L.2    Ruebner, B.H.3
  • 2
    • 0029038668 scopus 로고
    • Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region
    • Carlton VEH, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum. Mol. Genet. 1995 4 : 1049 53.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1049-1053
    • Carlton, V.E.H.1    Knisely, A.S.2    Freimer, N.B.3
  • 3
    • 0030869696 scopus 로고    scopus 로고
    • Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24
    • Strautnieks SS, Kagalwalla AF, Tanner MS et al. Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24. Am. J. Hum. Genet. 1997 61 : 630 3.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 630-633
    • Strautnieks, S.S.1    Kagalwalla, A.F.2    Tanner, M.S.3
  • 4
    • 0029990296 scopus 로고    scopus 로고
    • Defect of multidrugresistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis
    • Deleuze JF, Jacquemin E, Dubuisson C et al. Defect of multidrugresistance 3 gene expression in a subtype of progressive familial intrahepatic cholestasis. Hepatology 1996 23 : 904 8.
    • (1996) Hepatology , vol.23 , pp. 904-908
    • Deleuze, J.F.1    Jacquemin, E.2    Dubuisson, C.3
  • 5
    • 21244440246 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis: Genetic disorders of biliary transporters
    • Harris MJ, Le Couteur DG, Arias IM. Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters. J. Gastroenterol. Hepatol. 2005 20 : 807 17.
    • (2005) J. Gastroenterol. Hepatol. , vol.20 , pp. 807-817
    • Harris, M.J.1    Le Couteur, D.G.2    Arias, I.M.3
  • 6
    • 0036790453 scopus 로고    scopus 로고
    • The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II
    • Wang L, Soroka CJ, Boyer JL. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J. Clin. Invest. 2002 110 : 965 72.
    • (2002) J. Clin. Invest. , vol.110 , pp. 965-972
    • Wang, L.1    Soroka, C.J.2    Boyer, J.L.3
  • 7
    • 4143073631 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
    • van Mil SW, van der Woerd WL, van der Brugge G et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004 127 : 379 84.
    • (2004) Gastroenterology , vol.127 , pp. 379-384
    • Van Mil, S.W.1    Van Der Woerd, W.L.2    Van Der Brugge, G.3
  • 8
    • 33746537974 scopus 로고    scopus 로고
    • Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy
    • Keitel V, Vogt C, Haussinger D et al. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 2006 131 : 624 9.
    • (2006) Gastroenterology , vol.131 , pp. 624-629
    • Keitel, V.1    Vogt, C.2    Haussinger, D.3
  • 9
    • 0036161690 scopus 로고    scopus 로고
    • FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels
    • Chen HL, Chang PS, Hsu HC et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma- glutamyltranspeptidase levels. J. Pediatr. 2002 140 : 119 24.
    • (2002) J. Pediatr. , vol.140 , pp. 119-124
    • Chen, H.L.1    Chang, P.S.2    Hsu, H.C.3
  • 10
    • 0141706384 scopus 로고    scopus 로고
    • Biliary diversion for progressive familial intrahepatic cholestasis: Improved liver morphology and bile acid profile
    • Kurbegov AC, Setchell KD, Haas JE et al. Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Gastroenterology 2003 125 : 1227 34.
    • (2003) Gastroenterology , vol.125 , pp. 1227-1234
    • Kurbegov, A.C.1    Setchell, K.D.2    Haas, J.E.3
  • 11
    • 0032711405 scopus 로고    scopus 로고
    • Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
    • Jansen PL, Strautnieks SS, Jacquemin E et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 1999 117 : 1370 9.
    • (1999) Gastroenterology , vol.117 , pp. 1370-1379
    • Jansen, P.L.1    Strautnieks, S.S.2    Jacquemin, E.3
  • 12
    • 0005915501 scopus 로고    scopus 로고
    • There must be a third locus for low GGT PFIC
    • Strautnieks S, Byrne J, Knisely A et al. There must be a third locus for low GGT PFIC. Hepatology 2001 34 : 240A.
    • (2001) Hepatology , vol.34
    • Strautnieks, S.1    Byrne, J.2    Knisely, A.3
  • 13
    • 28844489919 scopus 로고    scopus 로고
    • A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
    • Lam CW, Cheung KM, Tsui MS, Yan MS, Lee CY, Tong SF. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J. Hepatol. 2006 44 : 240 2.
    • (2006) J. Hepatol. , vol.44 , pp. 240-242
    • Lam, C.W.1    Cheung, K.M.2    Tsui, M.S.3    Yan, M.S.4    Lee, C.Y.5    Tong, S.F.6
  • 14
    • 0033984873 scopus 로고    scopus 로고
    • Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver
    • Stieger B, Fattinger K, Madon J, Kullak-Ublick GA, Meier PJ. Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. Gastroenterology 2000 118 : 422 30.
    • (2000) Gastroenterology , vol.118 , pp. 422-430
    • Stieger, B.1    Fattinger, K.2    Madon, J.3    Kullak-Ublick, G.A.4    Meier, P.J.5
  • 15
    • 17344366172 scopus 로고    scopus 로고
    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • Strautnieks SS, Bull LN, Knisely AS et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat. Genet. 1998 20 : 233 8.
    • (1998) Nat. Genet. , vol.20 , pp. 233-238
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3
  • 16
    • 0036164594 scopus 로고    scopus 로고
    • Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population
    • Saito S, Iida A, Sekine A et al. Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population. J. Hum. Genet. 2002 47 : 38 50.
    • (2002) J. Hum. Genet. , vol.47 , pp. 38-50
    • Saito, S.1    Iida, A.2    Sekine, A.3
  • 17


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.