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Volumn 15, Issue 2, 2000, Pages 150-155

Mutations in the human TWIST gene

Author keywords

Acrocephaly; ACS III; Craniosynostosis; Saethre Chotzen syndrome; SCS; Syndactyly III; TWIST

Indexed keywords

GENE PRODUCT; TRANSCRIPTION FACTOR;

EID: 0033950556     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D     Document Type: Review
Times cited : (92)

References (27)
  • 1
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Antonarakis SE and Nomenclature Working Group. 1998. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 11(1):1-3.
    • (1998) Hum Mutat , vol.11 , Issue.1 , pp. 1-3
    • Antonarakis, S.E.1
  • 2
    • 0026672007 scopus 로고
    • The mapping of a gene for craniosynostosis: Evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p
    • Brueton LA, van Herwerden L, Chotai KA, Winter RM. 1992. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29(10):681-685.
    • (1992) J Med Genet , vol.29 , Issue.10 , pp. 681-685
    • Brueton, L.A.1    Van Herwerden, L.2    Chotai, K.A.3    Winter, R.M.4
  • 3
    • 0001956946 scopus 로고
    • Eine eigenartige famililaere entwicklungsstoerung (Akrocephalosyndactylie, dysostosis craniofacialis und Hypertelorismus)
    • Chotzen F. 1932. Eine eigenartige famililaere Entwicklungsstoerung (Akrocephalosyndactylie, Dysostosis craniofacialis und Hypertelorismus). Monatschr Kinderheilkd 55:97-122.
    • (1932) Monatschr Kinderheilkd , vol.55 , pp. 97-122
    • Chotzen, F.1
  • 4
    • 0032006641 scopus 로고    scopus 로고
    • The myogenic regulatory gene Mef2 is a direct target for transcriptional activation by Twist during Drosophila myogenesis
    • Cripps RM, Black BL, Zhao B, Lien CL, Schulz RA, Olson EN. 1998. The myogenic regulatory gene Mef2 is a direct target for transcriptional activation by Twist during Drosophila myogenesis. Genes Dev 12(3):422-434.
    • (1998) Genes Dev , vol.12 , Issue.3 , pp. 422-434
    • Cripps, R.M.1    Black, B.L.2    Zhao, B.3    Lien, C.L.4    Schulz, R.A.5    Olson, E.N.6
  • 7
    • 0032953019 scopus 로고    scopus 로고
    • Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
    • el Ghouzzi V, Lajeunie E, Le Merrer M, Cormier-Daire V, Renier D, Munnich A, Bonaventure J. 1999. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet 7(1):27-33.
    • (1999) Eur J Hum Genet , vol.7 , Issue.1 , pp. 27-33
    • El Ghouzzi, V.1    Lajeunie, E.2    Le Merrer, M.3    Cormier-Daire, V.4    Renier, D.5    Munnich, A.6    Bonaventure, J.7
  • 10
    • 0033555855 scopus 로고    scopus 로고
    • TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome
    • Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH. 1999b. TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome. Am J Med Genet 82(2):170-176.
    • (1999) Am J Med Genet , vol.82 , Issue.2 , pp. 170-176
    • Gripp, K.W.1    Stolle, C.A.2    Celle, L.3    McDonald-McGinn, D.M.4    Whitaker, L.A.5    Zackai, E.H.6
  • 11
    • 3543032767 scopus 로고    scopus 로고
    • Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning
    • Harfe BD, Gomes AV, Kenyon C, Liu J, Krause M, Fire A. 1998. Analysis of a Caenorhabditis elegans Twist homolog identifies conserved and divergent aspects of mesodermal patterning. Genes Dev 12(16):2623-2635.
    • (1998) Genes Dev , vol.12 , Issue.16 , pp. 2623-2635
    • Harfe, B.D.1    Gomes, A.V.2    Kenyon, C.3    Liu, J.4    Krause, M.5    Fire, A.6
  • 12
    • 0024781157 scopus 로고
    • A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest
    • Hopwood ND, Pluck A, Gurdon JB. 1989. A Xenopus mRNA related to Drosophila twist is expressed in response to induction in the mesoderm and the neural crest. Cell 59(5): 893-903.
    • (1989) Cell , vol.59 , Issue.5 , pp. 893-903
    • Hopwood, N.D.1    Pluck, A.2    Gurdon, J.B.3
  • 16
    • 0032810552 scopus 로고    scopus 로고
    • Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome
    • Kunz J, Hudler M, Fritz B, Gillessen-Kaesbach G, Passarge E. 1999. Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. J Med Genet 36:650-652.
    • (1999) J Med Genet , vol.36 , pp. 650-652
    • Kunz, J.1    Hudler, M.2    Fritz, B.3    Gillessen-Kaesbach, G.4    Passarge, E.5
  • 20
    • 0016702385 scopus 로고
    • Acrocephalopolysyndactyly, type Noack, in a large kindred
    • Robinow M, Sorauf TJ. 1975. Acrocephalopolysyndactyly, type Noack, in a large kindred. Birth Defects: Orig Article Ser 11(5):99-106.
    • (1975) Birth Defects: Orig Article Ser , vol.11 , Issue.5 , pp. 99-106
    • Robinow, M.1    Sorauf, T.J.2
  • 21
    • 0001636485 scopus 로고
    • Ein beitrag zum turmschaedelproblem (pathogenese, erblichkeit und symptomologie)
    • Saethre H. 1931. Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomologie). Dtsch Z Nervenheilkd 117:533-555.
    • (1931) Dtsch Z Nervenheilkd , vol.117 , pp. 533-555
    • Saethre, H.1
  • 22
    • 0024042026 scopus 로고
    • Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos
    • Thisse B, Stoetzel C, Gorostiza-Thisse C, Perrin-Schmitt F. 1988. Sequence of the twist gene and nuclear localization of its protein in endomesodermal cells of early Drosophila embryos. EMBO J 7(7):2175-2183.
    • (1988) EMBO J , vol.7 , Issue.7 , pp. 2175-2183
    • Thisse, B.1    Stoetzel, C.2    Gorostiza-Thisse, C.3    Perrin-Schmitt, F.4
  • 23
    • 0028287077 scopus 로고
    • Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p -and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q
    • van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM. 1994. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p -and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet 54(4):669-674.
    • (1994) Am J Hum Genet , vol.54 , Issue.4 , pp. 669-674
    • Herwerden, L.1    Rose, C.S.2    Reardon, W.3    Brueton, L.A.4    Weissenbach, J.5    Malcolm, S.6    Winter, R.M.7
  • 24
    • 0031046540 scopus 로고    scopus 로고
    • Cloning of the human twist gene: Its expression is retained in adult mesodermally-derived tissues
    • Wang SM, Coljee VW, Pignolo RJ, Rotenberg MO, Cristofalo VJ, Sierra F. 1997. Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues. Gene 187(1):83-92.
    • (1997) Gene , vol.187 , Issue.1 , pp. 83-92
    • Wang, S.M.1    Coljee, V.W.2    Pignolo, R.J.3    Rotenberg, M.O.4    Cristofalo, V.J.5    Sierra, F.6
  • 25
    • 0030769180 scopus 로고    scopus 로고
    • Craniosynostosis: Genes and mechanisms
    • Wilkie AO. 1997. Craniosynostosis: genes and mechanisms. Hum Molec Genet 6(10):1647-1656.
    • (1997) Hum Molec Genet , vol.6 , Issue.10 , pp. 1647-1656
    • Wilkie, A.O.1
  • 26
    • 0025963454 scopus 로고
    • The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes
    • Wolf C, Thisse C, Stoetzel C, Thisse B, Gerlinger P, Perrin-Schmitt F. 1991. The M-twist gene of Mus is expressed in subsets of mesodermal cells and is closely related to the Xenopus X-twi and the Drosophila twist genes. Developmental Biology 143(2):363-373.
    • (1991) Developmental Biology , vol.143 , Issue.2 , pp. 363-373
    • Wolf, C.1    Thisse, C.2    Stoetzel, C.3    Thisse, B.4    Gerlinger, P.5    Perrin-Schmitt, F.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.