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Volumn 6, Issue 11, 1997, Pages 1979-1984

Point mutations in human GLI3 cause Greig syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA; PRIMER DNA; ZINC FINGER PROTEIN;

EID: 0030856204     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1979     Document Type: Article
Times cited : (145)

References (26)
  • 2
    • 0024212119 scopus 로고
    • Chromosornal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13
    • Brueton,L., Huson,S.M., Winter,R.M. and Williamson,R. (1988)Chromosornal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13. Am. J. Med. Genet., 31, 799-804.
    • (1988) Am. J. Med. Genet. , vol.31 , pp. 799-804
    • Brueton, L.1    Huson, S.M.2    Winter, R.M.3    Williamson, R.4
  • 3
    • 0025812172 scopus 로고
    • GLI3 zinc finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp,A., Gessler,M. and Grzeschik,K.-H. (1991) GLI3 zinc finger gene interrupted by translocations in Greig syndrome families. Nature, 352, 539-540.
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.-H.3
  • 4
    • 0025247113 scopus 로고
    • Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: Hemizygosity for PGAM2 and TCRG genes
    • Wagner,K., Kroisel,P. and Rosenkranz,W. (1990) Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes. Genomics, 8, 487-491.
    • (1990) Genomics , vol.8 , pp. 487-491
    • Wagner, K.1    Kroisel, P.2    Rosenkranz, W.3
  • 5
    • 0024243968 scopus 로고
    • Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes)
    • Winter,R.M. and Huson,S.M. (1988) Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes). Am. J. Med. Genet., 31, 793-798.
    • (1988) Am. J. Med. Genet. , vol.31 , pp. 793-798
    • Winter, R.M.1    Huson, S.M.2
  • 6
    • 0026469401 scopus 로고
    • Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt)
    • Vortkamp,A., Franz,T., Gessler,M. and Grzeschik,K.-H. (1992) Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm. Genome, 3, 461-463.
    • (1992) Mamm. Genome , vol.3 , pp. 461-463
    • Vortkamp, A.1    Franz, T.2    Gessler, M.3    Grzeschik, K.-H.4
  • 7
    • 0027478216 scopus 로고
    • J mutation contains an intragenic deletion of the Gli3 gene
    • J mutation contains an intragenic deletion of the Gli3 gene. Nature Genet., 3, 241-245.
    • (1993) Nature Genet. , vol.3 , pp. 241-245
    • Hui, C.-C.1    Joyner, A.L.2
  • 8
    • 0025172883 scopus 로고
    • GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity
    • Ruppert,J.M., Vogelstein,B., Arheden,K. and Kinzler,K.W. (1990) GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity. Mol. Cell. Biol., 10, 5408-5415.
    • (1990) Mol. Cell. Biol. , vol.10 , pp. 5408-5415
    • Ruppert, J.M.1    Vogelstein, B.2    Arheden, K.3    Kinzler, K.W.4
  • 9
    • 0028821386 scopus 로고
    • Isolation and characterization of a cosmid contig for the GCPS gene region
    • Vortkamp,A., Heid,C., Gessler,M. and Grzeschik,K.-H. (1995) Isolation and characterization of a cosmid contig for the GCPS gene region. Hum. Genet., 95, 82-88.
    • (1995) Hum. Genet. , vol.95 , pp. 82-88
    • Vortkamp, A.1    Heid, C.2    Gessler, M.3    Grzeschik, K.-H.4
  • 11
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frame-shift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang,S., Graham,J.M., Olney,A.H. and Biesecker,L.G. (1997) GLI3 frame-shift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet., 15, 266-268.
    • (1997) Nature Genet. , vol.15 , pp. 266-268
    • Kang, S.1    Graham, J.M.2    Olney, A.H.3    Biesecker, L.G.4
  • 12
    • 0031018457 scopus 로고    scopus 로고
    • Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis
    • Radhakrishna,U. et al. (1997) Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am. J. Hum. Genet., 60, 597-604.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 597-604
    • Radhakrishna, U.1
  • 13
    • 0027165150 scopus 로고
    • The mitogen-activated protein kinase signal transduction pathway
    • Davis,R.J. (1993) The mitogen-activated protein kinase signal transduction pathway. J. Biol. Chem., 268, 14553-14556.
    • (1993) J. Biol. Chem. , vol.268 , pp. 14553-14556
    • Davis, R.J.1
  • 14
    • 0030598891 scopus 로고    scopus 로고
    • Serpentine proteins slither into the windless and hedgehog fields
    • Perrimon,N. (1996) Serpentine proteins slither into the windless and hedgehog fields. Cell, 86, 513-516.
    • (1996) Cell , vol.86 , pp. 513-516
    • Perrimon, N.1
  • 15
    • 0030602796 scopus 로고    scopus 로고
    • The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal
    • Alcedo,J., Ayzenzon,M., Von Ohlen,T., Noll,M. and Hooper,J.E. (1996) The Drosophila smoothened gene encodes a seven-pass membrane protein, a putative receptor for the hedgehog signal. Cell, 86, 221-232.
    • (1996) Cell , vol.86 , pp. 221-232
    • Alcedo, J.1    Ayzenzon, M.2    Von Ohlen, T.3    Noll, M.4    Hooper, J.E.5
  • 16
    • 0029979608 scopus 로고    scopus 로고
    • Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless
    • Grimm,S. and Pflugfelder,G.O. (1996) Control of the gene optomotor-blind in Drosophila wing development by decapentaplegic and wingless. Science, 271, 1601-1604.
    • (1996) Science , vol.271 , pp. 1601-1604
    • Grimm, S.1    Pflugfelder, G.O.2
  • 17
    • 0029896212 scopus 로고    scopus 로고
    • Sending and receiving the hedgehog signal: Control by the Drosophila Gli protein Cubitus interruptus
    • Dominguez,M., Brunner,M., Hafen,E. and Basler,KM. (1996) Sending and receiving the hedgehog signal: control by the Drosophila Gli protein Cubitus interruptus. Science, 272, 1621-1625.
    • (1996) Science , vol.272 , pp. 1621-1625
    • Dominguez, M.1    Brunner, M.2    Hafen, E.3    Basler, K.M.4
  • 18
    • 0030027059 scopus 로고    scopus 로고
    • Conservation of the hedgehoglpatched signaling pathway from flies to mice: Induction of a mouse patched gene by hedgehog
    • Goodrich,L.V., Johnson,R.L., Milenkovic,L., McMahon,J.A. and Scott,P.M. (1996) Conservation of the hedgehoglpatched signaling pathway from flies to mice: induction of a mouse patched gene by hedgehog. Genes Dev., 10, 301-312.
    • (1996) Genes Dev. , vol.10 , pp. 301-312
    • Goodrich, L.V.1    Johnson, R.L.2    Milenkovic, L.3    McMahon, J.A.4    Scott, P.M.5
  • 26
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
    • Orita,M., Suzuki,Y, Sekiya,T. and Hayashi,K. (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics, 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.