메뉴 건너뛰기




Volumn 94, Issue 8, 1996, Pages 1909-1912

Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy

Author keywords

genetics; heart defects, congenital; molecular biology; morphogenesis

Indexed keywords

DNA; GAP JUNCTION PROTEIN;

EID: 0029825134     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.94.8.1909     Document Type: Article
Times cited : (61)

References (19)
  • 2
    • 0026266110 scopus 로고
    • Establishment of left-right asymmetry in vertebrates: Genetically distinct steps are involved
    • Bock GR, Marsh J, eds. Ciba Foundation Symposium 162. Chichester, UK: John Wiley
    • Brueckner M, McGrath J, D'Eustachio P, Horwich A. Establishment of left-right asymmetry in vertebrates: genetically distinct steps are involved. In: Bock GR, Marsh J, eds. Symposium on Biological Asymmetry and Handedness, Ciba Foundation Symposium 162. Chichester, UK: John Wiley; 1991:202-218.
    • (1991) Symposium on Biological Asymmetry and Handedness , pp. 202-218
    • Brueckner, M.1    McGrath, J.2    D'Eustachio, P.3    Horwich, A.4
  • 3
    • 0027454207 scopus 로고
    • Mapping a gene for familial situs abnormalities to human chromosome xq24-q27.1
    • Casey B, Devoto M, Jones K, Ballabio A. Mapping a gene for familial situs abnormalities to human chromosome xq24-q27.1. Nat Genet. 1993;5:403-407.
    • (1993) Nat Genet , vol.5 , pp. 403-407
    • Casey, B.1    Devoto, M.2    Jones, K.3    Ballabio, A.4
  • 6
    • 0029043838 scopus 로고
    • Linkage of cardiac left-right asymmetry and dorsal-anterior development in Xenopus
    • Danos M, Yost H. Linkage of cardiac left-right asymmetry and dorsal-anterior development in Xenopus. Development. 1995;121:1467-1474.
    • (1995) Development , vol.121 , pp. 1467-1474
    • Danos, M.1    Yost, H.2
  • 7
    • 0026540063 scopus 로고
    • Duplication/deficiency mapping of situs inverses viscerum (iv), a gene that determines left-right asymmetry in the mouse
    • McGrath J, Horwich AL, Brueckner M. Duplication/deficiency mapping of situs inverses viscerum (iv), a gene that determines left-right asymmetry in the mouse. Genomics. 1992;14:643-648.
    • (1992) Genomics , vol.14 , pp. 643-648
    • McGrath, J.1    Horwich, A.L.2    Brueckner, M.3
  • 9
    • 0029089617 scopus 로고
    • A molecular pathway determining left-right asymmetry in chick embryogenesis
    • Levin M, Johnson R, Stern C, Kuehn M, Tabin C. A molecular pathway determining left-right asymmetry in chick embryogenesis. Cell. 1995;82:803-814.
    • (1995) Cell , vol.82 , pp. 803-814
    • Levin, M.1    Johnson, R.2    Stern, C.3    Kuehn, M.4    Tabin, C.5
  • 10
    • 0030022980 scopus 로고    scopus 로고
    • Left-right asymmetric localization of flectin in the extracellular matrix during heart looping
    • Tsuda T, Philp N, Zile MH, Linask KK. Left-right asymmetric localization of flectin in the extracellular matrix during heart looping. Dev Biol. 1996;173:39-50.
    • (1996) Dev Biol , vol.173 , pp. 39-50
    • Tsuda, T.1    Philp, N.2    Zile, M.H.3    Linask, K.K.4
  • 11
    • 0026813055 scopus 로고
    • Molecular biology and genetics of gap junctional channels
    • Kumar N, Gilula N. Molecular biology and genetics of gap junctional channels. Semin Cell Biol 1992;3:3-16.
    • (1992) Semin Cell Biol , vol.3 , pp. 3-16
    • Kumar, N.1    Gilula, N.2
  • 12
    • 0027043206 scopus 로고
    • Connexin 43 expression in the mouse embryo: Localization of transcripts within developmentally significant domains
    • Ruangvoravat C, Lo C. Connexin 43 expression in the mouse embryo: localization of transcripts within developmentally significant domains. Dev Dyn. 1992;194:261-281.
    • (1992) Dev Dyn , vol.194 , pp. 261-281
    • Ruangvoravat, C.1    Lo, C.2
  • 14
    • 0025334411 scopus 로고
    • Molecular characterization and functional expression of the human cardiac gap junction channel
    • Fishman G, Eddy R, Shows T, Rosenthal L, Leinwand L. Molecular characterization and functional expression of the human cardiac gap junction channel. J Cell Biol. 1990;111:589-598.
    • (1990) J Cell Biol , vol.111 , pp. 589-598
    • Fishman, G.1    Eddy, R.2    Shows, T.3    Rosenthal, L.4    Leinwand, L.5
  • 15
    • 0029060788 scopus 로고
    • Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality
    • Britz-Cunningham S, Shah M, Zuppan C, Fletcher W. Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995;332:1323-1329.
    • (1995) N Engl J Med , vol.332 , pp. 1323-1329
    • Britz-Cunningham, S.1    Shah, M.2    Zuppan, C.3    Fletcher, W.4
  • 16
    • 0025789648 scopus 로고
    • Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques
    • Musil LS, Goodenough DA. Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques. J Cell Biol. 1991;115:1357-1374.
    • (1991) J Cell Biol , vol.115 , pp. 1357-1374
    • Musil, L.S.1    Goodenough, D.A.2
  • 17
    • 0029165467 scopus 로고
    • Connexin43 mutations in sporadic and familial defects of laterality
    • Casey B, Ballabio A. Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med. 1995;333:941-942.
    • (1995) N Engl J Med , vol.333 , pp. 941-942
    • Casey, B.1    Ballabio, A.2
  • 18
    • 0025796856 scopus 로고
    • The human connexingene family of gap junction proteins: Distinct chromosomal locations but similar structures
    • Fishman G, Eddy R, Shows T, Rosenthal L, Leinwand L. The human connexingene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991;10:250-256.
    • (1991) Genomics , vol.10 , pp. 250-256
    • Fishman, G.1    Eddy, R.2    Shows, T.3    Rosenthal, L.4    Leinwand, L.5
  • 19
    • 0029165467 scopus 로고
    • Connexin43 mutations in sporadic and familial defects of laterality
    • Penman Splitt M, Burn J, Goodship J. Connexin43 mutations in sporadic and familial defects of laterality. N Engl J Med. 1995;333:941-942.
    • (1995) N Engl J Med , vol.333 , pp. 941-942
    • Penman, S.M.1    Burn, J.2    Goodship, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.