메뉴 건너뛰기




Volumn 6, Issue 2, 1997, Pages 267-276

Structural and mutational analysis of a conserved gene (DGSl) from the minimal DiGeorge syndrome critical region

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAENORHABDITIS ELEGANS; CHROMOSOME 16; CHROMOSOME 22Q; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; DATA BASE; DELETION MUTANT; DIGEORGE SYNDROME; EXON; GENE LOCUS; GENE STRUCTURE; GENETIC CONSERVATION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; MOUSE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE HOMOLOGY;

EID: 0031040139     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.267     Document Type: Article
Times cited : (31)

References (36)
  • 1
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletion and microdeletion of 22q 11
    • Driscoll, D.A., Budarf, M.L. and Emanuel B.S. (1992) A genetic etiology for DiGeorge syndrome: consistent deletion and microdeletion of 22q 11. Am. J. Hum. Genet., 50, 924-933.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 7
    • 0027328673 scopus 로고
    • Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization
    • Lindsay, E.A., Halford, S., Wadey, R., Scambler, P.J.and Baldini, A. (1993) Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics, 17, 403-407.
    • (1993) Genomics , vol.17 , pp. 403-407
    • Lindsay, E.A.1    Halford, S.2    Wadey, R.3    Scambler, P.J.4    Baldini, A.5
  • 10
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • Driscoll, D.A., Sellinger, J., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H. and Emanuel, B.S. (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J. Med. Genet., 30, 813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Sellinger, J.2    Budarf, M.L.3    McDonald-McGinn, D.M.4    Zackai, E.H.5    Emanuel, B.S.6
  • 14
    • 0028958564 scopus 로고
    • Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
    • Demezuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau, G.A., Thomas, G. and Aurias, A. (1995) Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity. Hum. Mol. Genet., 4, 551-558.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 551-558
    • Demezuk, S.1    Aledo, R.2    Zucman, J.3    Delattre, O.4    Desmaze, C.5    Dauphinot, L.6    Jalbert, P.7    Rouleau, G.A.8    Thomas, G.9    Aurias, A.10
  • 15
    • 0029065469 scopus 로고
    • Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
    • Wadey, R., Daw, S., Taylor, C., Atif, U., Kamath, S., Halford, S., O'Donnell, H., Wilson, D., Goodship, J., Burn, J. and Scambler, P. (1995) Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet., 4, 1027-1033.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1027-1033
    • Wadey, R.1    Daw, S.2    Taylor, C.3    Atif, U.4    Kamath, S.5    Halford, S.6    O'Donnell, H.7    Wilson, D.8    Goodship, J.9    Burn, J.10    Scambler, P.11
  • 16
    • 0029985819 scopus 로고    scopus 로고
    • Cloning. genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region
    • Goldmuntz, E, Wang, Z.,.Roe, B. and Budarf, M.L. (1996) Cloning. genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Genomics, 33, 271-276.
    • (1996) Genomics , vol.33 , pp. 271-276
    • Goldmuntz, E.1    Wang, Z.2    Roe, B.3    Budarf, M.L.4
  • 18
    • 0029971383 scopus 로고    scopus 로고
    • Characterization of a second human clathrin heavy chain polypeptide gene (CLH22) from chromosome 22q11
    • Kedra D., Peyrard, M., Fransson, I., Collins, J.E., Dunham, I., Roe B.A.and Dumanski, J.P. (1996) Characterization of a second human clathrin heavy chain polypeptide gene (CLH22) from chromosome 22q11. Hum. Mol. Genet., 5, 625-632.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 625-632
    • Kedra, D.1    Peyrard, M.2    Fransson, I.3    Collins, J.E.4    Dunham, I.5    Roe, B.A.6    Dumanski, J.P.7
  • 21
    • 0024340524 scopus 로고
    • The prolme-rich transcriplional activator of CTF/NF-1 is distinct from the replication and DNA binding domain
    • Mermod, N., O'Neill, E.A., Kelly, T.J. and Tjian, R. (1989) The prolme-rich transcriplional activator of CTF/NF-1 is distinct from the replication and DNA binding domain. Cell, 58, 741-753.
    • (1989) Cell , vol.58 , pp. 741-753
    • Mermod, N.1    O'Neill, E.A.2    Kelly, T.J.3    Tjian, R.4
  • 22
    • 0028353775 scopus 로고
    • Transcriptional activation domains of the single-minded bHLH protein are required for CNS midline cell development
    • Franks, R.G. and Crew, S.T. (1994) Transcriptional activation domains of the single-minded bHLH protein are required for CNS midline cell development. Mech. Dev., 45, 269-277
    • (1994) Mech. Dev. , vol.45 , pp. 269-277
    • Franks, R.G.1    Crew, S.T.2
  • 23
    • 0027256435 scopus 로고
    • Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression reveals a cellular role for an ETS domain activator of viral promoters
    • Virbasius, J.V. and Scarpulla, R.C. (1993) Identity of GABP with NRF-2, a multisubunit activator of cytochrome oxidase expression reveals a cellular role for an ETS domain activator of viral promoters. Genes Dev., 7, 380-392.
    • (1993) Genes Dev. , vol.7 , pp. 380-392
    • Virbasius, J.V.1    Scarpulla, R.C.2
  • 24
    • 0022520161 scopus 로고
    • Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
    • van Mierop, L.H.S. and Kutsche, L.M. (1986) Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am. J. Cardiol., 58, 133-137.
    • (1986) Am. J. Cardiol. , vol.58 , pp. 133-137
    • Van Mierop, L.H.S.1    Kutsche, L.M.2
  • 25
    • 0343914580 scopus 로고
    • Simultaneous detection of multiple point mutations using allele-specific oligonucleotides
    • Nicolas, C.D. et al (eds), Green Publishing Associates, Inc. and John Wiley & Sons, Inc.
    • Handelin, B and Shuber, A.P. (1994) Simultaneous detection of multiple point mutations using allele-specific oligonucleotides. In Nicolas, C.D. et al (eds), Current Protocols in Human Genetics. Green Publishing Associates, Inc. and John Wiley & Sons, Inc., pp. 9.4.1-9.4.8.
    • (1994) Current Protocols in Human Genetics , pp. 941-948
    • Handelin, B.1    Shuber, A.P.2
  • 26
    • 0027291288 scopus 로고
    • Expanded: A gene involved in the control of cell proliferation in imaginal discs
    • Boedigheimer, M. and Laughon, A. (1993) Expanded: a gene involved in the control of cell proliferation in imaginal discs. Development, 111, 1291-1301.
    • (1993) Development , vol.111 , pp. 1291-1301
    • Boedigheimer, M.1    Laughon, A.2
  • 27
    • 0022939117 scopus 로고
    • The DiGeorge anomaly as a developmental field defect
    • Lammer, E.J. and Opitz, J.M. (1986) The DiGeorge anomaly as a developmental field defect. Am. J. Med. Genet., 29, 113-127.
    • (1986) Am. J. Med. Genet. , vol.29 , pp. 113-127
    • Lammer, E.J.1    Opitz, J.M.2
  • 29
    • 0012218859 scopus 로고
    • DiGeorge syndrome with del (4) (q21.3q25): Possibility of the fourth chromosomal region responsible for DiGeorge syndrome
    • Fukushima, Y., Ohashi, H., Wakui, T., Nishida, T., Nakamura, Y., Hoshino, K., Igawa, K. and Oh-ishi, T. (1992) DiGeorge syndrome with del (4) (q21.3q25): possibility of the fourth chromosomal region responsible for DiGeorge syndrome. Am. J. Hum. Genet., 51, 306.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 306
    • Fukushima, Y.1    Ohashi, H.2    Wakui, T.3    Nishida, T.4    Nakamura, Y.5    Hoshino, K.6    Igawa, K.7    Oh-ishi, T.8
  • 30
    • 0023815540 scopus 로고
    • Cytogenetic findings in a prospective series of patients with DiGeorge anomaly
    • Greenberg, F., Elder, F.F.B., Haffner, P., Nothrup, H. and Ledbetter, D. (1988a) Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Am. J. Hum. Genet., 43, 605-611.
    • (1988) Am. J. Hum. Genet. , vol.43 , pp. 605-611
    • Greenberg, F.1    Elder, F.F.B.2    Haffner, P.3    Nothrup, H.4    Ledbetter, D.5
  • 32
    • 0026638776 scopus 로고
    • Polymorphism in the human apolipoprotein A-I gene promoter region: Association of the minor allele with decreased rate in vivo and promoter activity in vitro
    • Smith, J.D., Brinton, E.A. and Breslow, J.L. (1992) Polymorphism in the human apolipoprotein A-I gene promoter region: association of the minor allele with decreased rate in vivo and promoter activity in vitro. J. Clin. Invent., 89, 1796-1800.
    • (1992) J. Clin. Invent. , vol.89 , pp. 1796-1800
    • Smith, J.D.1    Brinton, E.A.2    Breslow, J.L.3
  • 33
    • 0029045344 scopus 로고
    • A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity
    • Yang, W.S, Nevin, D.N., Peng, R., Brunzell, J.D. and Deeb, S.S. (1995) A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc. Natl Acad. Sci. USA, 92, 4462-4466.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 4462-4466
    • Yang, W.S.1    Nevin, D.N.2    Peng, R.3    Brunzell, J.D.4    Deeb, S.S.5
  • 34
    • 84941143640 scopus 로고
    • Shotgun cloning as the strategy of choice to generate templates for high-throughput dideoxynucleotide sequencing
    • Venter, J.C. (ed.), Academic Press, London
    • Bodenteich, A., Chissoe, S., Wang, Y.F. and Roe, B.A. (1994) Shotgun cloning as the strategy of choice to generate templates for high-throughput dideoxynucleotide sequencing. In Venter, J.C. (ed.), Automated DNA Sequencing and Analysis. Academic Press, London, pp. 42-50.
    • (1994) Automated DNA Sequencing and Analysis , pp. 42-50
    • Bodenteich, A.1    Chissoe, S.2    Wang, Y.F.3    Roe, B.A.4
  • 36
    • 0028912181 scopus 로고
    • Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg-519-Cys base substitution using conformation sensitive gel electrophoresis
    • Williams, C.J., Matthew, R., Considine, E., McCarron, S., Gow, P., Ladda, R., McLain, D., Michels, V.M., Murphy, W., Prockop D.J. and Ganguly, A. (1995) Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg-519-Cys base substitution using conformation sensitive gel electrophoresis. Hum. Mol. Genet., 4, 309-312.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 309-312
    • Williams, C.J.1    Matthew, R.2    Considine, E.3    McCarron, S.4    Gow, P.5    Ladda, R.6    McLain, D.7    Michels, V.M.8    Murphy, W.9    Prockop, D.J.10    Ganguly, A.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.