메뉴 건너뛰기




Volumn 105, Issue 1-2, 1999, Pages 104-111

Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; THROMBOPOIETIN; VOLTAGE GATED CHANNEL FORMING PROTEIN;

EID: 0032763778     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004399900068     Document Type: Article
Times cited : (19)

References (50)
  • 1
    • 0026087687 scopus 로고
    • Diagnostic single strand conformational polymorphism, (SSCP): A simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant
    • Ainsworth PJ, Surh LC, Coulter MMB (1991) Diagnostic single strand conformational polymorphism, (SSCP): a simplified non-radioisotopic method as applied to a Tay-Sachs B1 variant. Nucleic Acids Res 19:405-406
    • (1991) Nucleic Acids Res , vol.19 , pp. 405-406
    • Ainsworth, P.J.1    Surh, L.C.2    Coulter, M.M.B.3
  • 4
    • 0028236069 scopus 로고
    • Molecular cloning of the human homeobox gene Goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1
    • Blum M, de Robertis EM, Kojis T, Heinzmann C, Klisak I, Geissert D, Sparkes RS (1994) Molecular cloning of the human homeobox gene Goosecoid (GSC) and mapping of the gene to human chromosome 14q32.1. Genomics 21:388-393
    • (1994) Genomics , vol.21 , pp. 388-393
    • Blum, M.1    De Robertis, E.M.2    Kojis, T.3    Heinzmann, C.4    Klisak, I.5    Geissert, D.6    Sparkes, R.S.7
  • 7
    • 0021760092 scopus 로고
    • A comprehensive set of sequence-analysis programs for the VAX
    • Devereux J, Haeberli P, Smithies (1984) A comprehensive set of sequence-analysis programs for the VAX. Nucleic Acids Res 12:387-395
    • (1984) Nucleic Acids Res , vol.12 , pp. 387-395
    • Devereux, J.1    Haeberli, P.2
  • 8
    • 0030219608 scopus 로고    scopus 로고
    • Conservation of dorsal-ventral patterning in arthropods and chordates
    • Ferguson EL (1996) Conservation of dorsal-ventral patterning in arthropods and chordates. Curr Opin Genet Dev 6:424-431
    • (1996) Curr Opin Genet Dev , vol.6 , pp. 424-431
    • Ferguson, E.L.1
  • 12
    • 0032373231 scopus 로고    scopus 로고
    • Distinct regulatory elements govern fgf4 gene expression in the mouse blastocyst, myotomes, and developing limb
    • Fraidenraich D, Lang R, Basilico C (1998) Distinct regulatory elements govern fgf4 gene expression in the mouse blastocyst, myotomes, and developing limb. Dev Biol 204:197-209
    • (1998) Dev Biol , vol.204 , pp. 197-209
    • Fraidenraich, D.1    Lang, R.2    Basilico, C.3
  • 13
    • 0027521087 scopus 로고
    • Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall
    • Gaunt SJ, Blum M, de Robertis EM (1993) Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall. Development 117:769-778
    • (1993) Development , vol.117 , pp. 769-778
    • Gaunt, S.J.1    Blum, M.2    De Robertis, E.M.3
  • 14
    • 0028899548 scopus 로고
    • Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin
    • Gurney AL, Kuang WJ, Xie MH, Malloy BE, Eaton DL, deSauvage FJ (1995) Genomic structure, chromosomal localization, and conserved alternative splice forms of thrombopoietin. Blood 85:981-988
    • (1995) Blood , vol.85 , pp. 981-988
    • Gurney, A.L.1    Kuang, W.J.2    Xie, M.H.3    Malloy, B.E.4    Eaton, D.L.5    DeSauvage, F.J.6
  • 16
    • 0025898874 scopus 로고
    • A de novo translocation t(3;17)(q26.3;q27.1) in a child with Cornelia de Lange syndrome
    • Ireland M, English C, Cross I, Houlsby WT, Burn J (1991) A de novo translocation t(3;17)(q26.3;q27.1) in a child with Cornelia de Lange syndrome. J Med Genet 28:639-640
    • (1991) J Med Genet , vol.28 , pp. 639-640
    • Ireland, M.1    English, C.2    Cross, I.3    Houlsby, W.T.4    Burn, J.5
  • 17
    • 0029381763 scopus 로고
    • Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype
    • Ireland M, English C, Cross I, Lindsay S, Strachan T (1995) Partial trisomy 3q and the mild Cornelia de Lange syndrome phenotype. J Med Genet 32:837-838
    • (1995) J Med Genet , vol.32 , pp. 837-838
    • Ireland, M.1    English, C.2    Cross, I.3    Lindsay, S.4    Strachan, T.5
  • 18
    • 0030967202 scopus 로고    scopus 로고
    • Characterisation of the human thrombopoietin gene promoter
    • Kamura T, Handa H, Hamasaki N, Kitajima S (1997) Characterisation of the human thrombopoietin gene promoter. J Biol Chem 272:11361-11363
    • (1997) J Biol Chem , vol.272 , pp. 11361-11363
    • Kamura, T.1    Handa, H.2    Hamasaki, N.3    Kitajima, S.4
  • 19
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V (1998) Position effect in human genetic disease. Hum Mol Genet 7:1611-1618
    • (1998) Hum Mol Genet , vol.7 , pp. 1611-1618
    • Kleinjan, D.J.1    Van Heyningen, V.2
  • 21
    • 0030213227 scopus 로고    scopus 로고
    • Interpreting cDNA sequences: Some insights from studies on translation
    • Kozak M (1996) Interpreting cDNA sequences: some insights from studies on translation. Mamm Genome 17:563-574
    • (1996) Mamm Genome , vol.17 , pp. 563-574
    • Kozak, M.1
  • 22
    • 0030471817 scopus 로고    scopus 로고
    • Autosomal dominant inheritance of Brachmann de Lange syndrome
    • Kozma C (1996) Autosomal dominant inheritance of Brachmann de Lange syndrome. Am J Med Genet 66:445-448
    • (1996) Am J Med Genet , vol.66 , pp. 445-448
    • Kozma, C.1
  • 24
    • 0030445512 scopus 로고    scopus 로고
    • Brachmann de Lange syndrome: Autosomal dominant inheritance and male-to-male transmission
    • McKenney RR, Elder FFB, Garcia J, Northrup H (1996) Brachmann de Lange syndrome: autosomal dominant inheritance and male-to-male transmission. Am J Med Genet 66:449-452
    • (1996) Am J Med Genet , vol.66 , pp. 449-452
    • McKenney, R.R.1    Elder, F.F.B.2    Garcia, J.3    Northrup, H.4
  • 26
    • 0345522881 scopus 로고    scopus 로고
    • Familial De Lange syndrome in a mother and daughter
    • Morrison PJ, Brown T, Nevin NC (1997) Familial De Lange syndrome in a mother and daughter. J Med Genet 34:509
    • (1997) J Med Genet , vol.34 , pp. 509
    • Morrison, P.J.1    Brown, T.2    Nevin, N.C.3
  • 27
    • 0028130094 scopus 로고
    • Brachmann-de Lange syndrome
    • Opitz J (1994) Brachmann-de Lange syndrome. Arch Pediatr Adolesc Med 148:1206-1207
    • (1994) Arch Pediatr Adolesc Med , vol.148 , pp. 1206-1207
    • Opitz, J.1
  • 28
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989a) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A 86:2766-2770
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 30
    • 0032167757 scopus 로고    scopus 로고
    • Coding sequence and expression patterns of mouse chordin and mapping of the cognate mouse and human CHRD genes
    • Pappano WN, Scott IC, Clark TG, Eddy RL, Shows TB, Greenspan DS (1998) Coding sequence and expression patterns of mouse chordin and mapping of the cognate mouse and human CHRD genes. Genomics 52:236-239
    • (1998) Genomics , vol.52 , pp. 236-239
    • Pappano, W.N.1    Scott, I.C.2    Clark, T.G.3    Eddy, R.L.4    Shows, T.B.5    Greenspan, D.S.6
  • 33
    • 0029124998 scopus 로고
    • goosecoid Is not an essential component of the mouse gastrula organizer but is require for craniofacial and rib development
    • Rivera-Perez JA, Mallo M, Gendron-Maguire M, Gridley T, Behringer RR (1995) goosecoid Is not an essential component of the mouse gastrula organizer but is require for craniofacial and rib development. Development 121:3005-3012
    • (1995) Development , vol.121 , pp. 3005-3012
    • Rivera-Perez, J.A.1    Mallo, M.2    Gendron-Maguire, M.3    Gridley, T.4    Behringer, R.R.5
  • 34
    • 0031037329 scopus 로고    scopus 로고
    • Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
    • Rizzu P, Haddad BR, Vallcorba I, Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A (1997) Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 68:428-432
    • (1997) Am J Med Genet , vol.68 , pp. 428-432
    • Rizzu, P.1    Haddad, B.R.2    Vallcorba, I.3    Alonso, A.4    Ferro, M.T.5    Garcia-Sagredo, J.M.6    Baldini, A.7
  • 36
    • 0027967380 scopus 로고
    • Xenopus chordin: A novel dorsalizing factor activated by organizer-specific homeobox genes
    • Sasai Y, Lu B, Steinbeisser H, Geissert D, Gont LK, de Robertis EM (1994) Xenopus chordin: a novel dorsalizing factor activated by organizer-specific homeobox genes. Cell 79:779-790
    • (1994) Cell , vol.79 , pp. 779-790
    • Sasai, Y.1    Lu, B.2    Steinbeisser, H.3    Geissert, D.4    Gont, L.K.5    De Robertis, E.M.6
  • 37
    • 0030465354 scopus 로고    scopus 로고
    • Refined chromosomal location of the thrombopoietin gene to 3q27-q28 and exclusion as the responsible gene for thrombocytosis in patients with rearrangements of 3q21 and 3q26
    • Schnittger S, de Sauvage FL, Le Paslier D, Fonatsch C (1996) Refined chromosomal location of the thrombopoietin gene to 3q27-q28 and exclusion as the responsible gene for thrombocytosis in patients with rearrangements of 3q21 and 3q26. Leukemia 10:1891-1896
    • (1996) Leukemia , vol.10 , pp. 1891-1896
    • Schnittger, S.1    De Sauvage, F.L.2    Le Paslier, D.3    Fonatsch, C.4
  • 41
    • 0031890838 scopus 로고    scopus 로고
    • Chordin regulates primitive streak development and the stability of induced neural cells, but is not sufficient for neural induction in the chick embryo
    • Streit A, Lee KJ, Woo I, Roberts C, Jessell TM, Stern C (1998) Chordin regulates primitive streak development and the stability of induced neural cells, but is not sufficient for neural induction in the chick embryo. Development 125:507-519
    • (1998) Development , vol.125 , pp. 507-519
    • Streit, A.1    Lee, K.J.2    Woo, I.3    Roberts, C.4    Jessell, T.M.5    Stern, C.6
  • 42
    • 0028909220 scopus 로고
    • Embryonic expression of the chichen Sox2, Sox3 and Sox11 genes suggests an interactive role in neuronal development
    • Uwanogho D, Rex M, Cartwright EJ, Pearl G, Healy C, Scotting PJ, Sharpe PT (1995) Embryonic expression of the chichen Sox2, Sox3 and Sox11 genes suggests an interactive role in neuronal development. Mech Dev 49:23-36
    • (1995) Mech Dev , vol.49 , pp. 23-36
    • Uwanogho, D.1    Rex, M.2    Cartwright, E.J.3    Pearl, G.4    Healy, C.5    Scotting, P.J.6    Sharpe, P.T.7
  • 44
    • 0031975482 scopus 로고    scopus 로고
    • An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocytothaemia
    • Wiestner A, Schlemper RJ, van der Maas APC, Skoda RC (1998) An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocytothaemia. Nat Genet 18:49-52
    • (1998) Nat Genet , vol.18 , pp. 49-52
    • Wiestner, A.1    Schlemper, R.J.2    Van Der Maas, A.P.C.3    Skoda, R.C.4
  • 45
    • 0021932377 scopus 로고
    • Further delineation of the Dup(3q) syndrome
    • Wilson GN, Dasouki M, Barr M (1985) Further delineation of the Dup(3q) syndrome. Am J Med Genet 22:117-123
    • (1985) Am J Med Genet , vol.22 , pp. 117-123
    • Wilson, G.N.1    Dasouki, M.2    Barr, M.3
  • 46
    • 0021014235 scopus 로고
    • Reciprocal translocation 14q:21q in a patient with the Brachmann de-Lange syndrome
    • Wilson WG, Kennaugh JM, Kugler JP, Wyandt H (1983) Reciprocal translocation 14q:21q in a patient with the Brachmann de-Lange syndrome. J Med Genet 20:469-471
    • (1983) J Med Genet , vol.20 , pp. 469-471
    • Wilson, W.G.1    Kennaugh, J.M.2    Kugler, J.P.3    Wyandt, H.4
  • 49
    • 0028808183 scopus 로고
    • Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3
    • Yuan H, Corbi N, Basilico C, Dailey L (1995) Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. Genes Dev 9:2635-2645
    • (1995) Genes Dev , vol.9 , pp. 2635-2645
    • Yuan, H.1    Corbi, N.2    Basilico, C.3    Dailey, L.4
  • 50
    • 0031901496 scopus 로고    scopus 로고
    • Malformation of trachea, pelvic region and external genitalia in goosecoid mutant mice
    • Zhu CC, Yamada G, Nakamura S, Terashi T, Schweickert A, Blum M (1998) Malformation of trachea, pelvic region and external genitalia in goosecoid mutant mice. Dev Dyn 211:374-381
    • (1998) Dev Dyn , vol.211 , pp. 374-381
    • Zhu, C.C.1    Yamada, G.2    Nakamura, S.3    Terashi, T.4    Schweickert, A.5    Blum, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.