메뉴 건너뛰기




Volumn 362, Issue 9393, 2003, Pages 1366-1373

Role of TBX1 in human del22q11.2 syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DISORDER; CLEFT PALATE; CONTROLLED STUDY; DEL22Q11 2 SYNDROME; DIGEORGE SYNDROME; FEMALE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; HUMAN; HYPOCALCEMIA; IN SITU HYBRIDIZATION; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; T LYMPHOCYTE; VELOCARDIOFACIAL SYNDROME;

EID: 10744223651     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)14632-6     Document Type: Article
Times cited : (720)

References (30)
  • 1
    • 0003140712 scopus 로고
    • The clinical significance of 22q11 deletion
    • E.B. Clark, R.R. Markwald, & A. Takao. New York: Futura
    • Burn J., Wilson D.I., Cross I., et al. The clinical significance of 22q11 deletion. Clark E.B., Markwald R.R., Takao A. Developmental mechanisms of heart disease. 1995;559-567 Futura, New York.
    • (1995) Developmental mechanisms of heart disease , pp. 559-567
    • Burn, J.1    Wilson, D.I.2    Cross, I.3
  • 2
    • 0000025287 scopus 로고
    • Discussion on a new concept of the cellular basis of immunity
    • DiGeorge A.M. Discussion on a new concept of the cellular basis of immunity. J Pediatr. 67:1965;907-908.
    • (1965) J Pediatr , vol.67 , pp. 907-908
    • DiGeorge, A.M.1
  • 3
    • 0003047494 scopus 로고
    • Facial appearance of patients with conotruncal anomalies
    • Kinouchi A., Mori K., Ando M., Takao A. Facial appearance of patients with conotruncal anomalies. Pediatr Jpn. 17:1976;84.
    • (1976) Pediatr Jpn , vol.17 , pp. 84
    • Kinouchi, A.1    Mori, K.2    Ando, M.3    Takao, A.4
  • 5
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen R.J., Goldberg R.B., Lewin M.L., et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 15:1978;56-62.
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3
  • 6
    • 0033753819 scopus 로고    scopus 로고
    • The 22q11 deletion syndromes
    • Scambler P.J. The 22q11 deletion syndromes. Hum Mol Genet. 9:2000;2421-2426.
    • (2000) Hum Mol Genet , vol.9 , pp. 2421-2426
    • Scambler, P.J.1
  • 7
    • 0035514706 scopus 로고    scopus 로고
    • Chromosomal microdeletions: Dissectiog del 22q11 syndrome
    • Lindsay E.A. Chromosomal microdeletions: dissectiog del 22q11 syndrome. Nat Rev Genet. 2:2001;858-868.
    • (2001) Nat Rev Genet , vol.2 , pp. 858-868
    • Lindsay, E.A.1
  • 8
    • 0036596250 scopus 로고    scopus 로고
    • The 22q11.2 deletion syndrome
    • Yamagishi H. The 22q11.2 deletion syndrome. Keio J Med. 51:2002;77-88.
    • (2002) Keio J Med , vol.51 , pp. 77-88
    • Yamagishi, H.1
  • 9
    • 0035263599 scopus 로고    scopus 로고
    • Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
    • Lindsay E.A., Vitelli F., Su H., et al. Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature. 410:2001;97-101.
    • (2001) Nature , vol.410 , pp. 97-101
    • Lindsay, E.A.1    Vitelli, F.2    Su, H.3
  • 10
    • 0035098557 scopus 로고    scopus 로고
    • DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
    • Jerome L.A., Papaioannou V.E. DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet. 27:2001;286-291.
    • (2001) Nat Genet , vol.27 , pp. 286-291
    • Jerome, L.A.1    Papaioannou, V.E.2
  • 11
    • 17744395906 scopus 로고    scopus 로고
    • TBX1 is responsible for cardiovascular defects in velo-cardio-facial/ DiGeorge syndrome
    • Merscher S., Funke B., Epstein J.B., et al. TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell. 104:2001;619-629.
    • (2001) Cell , vol.104 , pp. 619-629
    • Merscher, S.1    Funke, B.2    Epstein, J.B.3
  • 12
    • 0035653927 scopus 로고    scopus 로고
    • Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects
    • Gong W., Gottelieb S., Collins, et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. J Med Genet. 38:2001;e45.
    • (2001) J Med Genet , vol.38 , pp. 45
    • Gong, W.1    Gottelieb, S.2    Collins3
  • 13
    • 0038364111 scopus 로고    scopus 로고
    • DiGeorge subtypes of nonsyndromic conotruncal defects: Evidence against a major role of TBX1 Gene
    • Conti E., Grifone N., Sarkozy A., et al. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene. Eur J Hum Genet. 11:2003;349-351.
    • (2003) Eur J Hum Genet , vol.11 , pp. 349-351
    • Conti, E.1    Grifone, N.2    Sarkozy, A.3
  • 14
    • 0022965184 scopus 로고
    • Regional location of a novel yes-related protooncogene, syn, on human chromosome 6 at band q21
    • Yoshida M.C., Satoh H., Sasaki M., et al. Regional location of a novel yes-related protooncogene, syn, on human chromosome 6 at band q21. Jpn J Cancer Res. 77:1986;1059-1061.
    • (1986) Jpn J Cancer Res , vol.77 , pp. 1059-1061
    • Yoshida, M.C.1    Satoh, H.2    Sasaki, M.3
  • 15
    • 0031659846 scopus 로고    scopus 로고
    • Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
    • Matsuoka R., Kimura M., Scambler P.J., et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 103:1998;70-80.
    • (1998) Hum Genet , vol.103 , pp. 70-80
    • Matsuoka, R.1    Kimura, M.2    Scambler, P.J.3
  • 16
    • 0030980842 scopus 로고    scopus 로고
    • Human BAC library: Construction and rapid screening
    • Asakawa S., Abe I., Kudoh Y., et al. Human BAC library: construction and rapid screening. Gene. 191:1997;69-79.
    • (1997) Gene , vol.191 , pp. 69-79
    • Asakawa, S.1    Abe, I.2    Kudoh, Y.3
  • 17
    • 4243981412 scopus 로고    scopus 로고
    • Genotype-phenotype correlations in del 22q11.2 syndrome
    • E.B. Clark, M. Nakazawa, & A. Takao. New York: Futura
    • Matsuoka R., Furutani M., Kimura M., et al. Genotype-phenotype correlations in del 22q11.2 syndrome. Clark E.B., Nakazawa M., Takao A. Etiology and morphogenesis of congenital heart disease. 2000;341-346 Futura, New York.
    • (2000) Etiology and morphogenesis of congenital heart disease , pp. 341-346
    • Matsuoka, R.1    Furutani, M.2    Kimura, M.3
  • 18
    • 0031904734 scopus 로고    scopus 로고
    • Phenotypic discordance in monozygotic twins with 22q11.2 deletion
    • Yamagishi H., Ishii C., Maeda J., et al. Phenotypic discordance in monozygotic twins with 22q11.2 deletion. Am J Med Genet. 78:1998;319-321.
    • (1998) Am J Med Genet , vol.78 , pp. 319-321
    • Yamagishi, H.1    Ishii, C.2    Maeda, J.3
  • 19
    • 0032769144 scopus 로고    scopus 로고
    • Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
    • MacQuade L., Christodoulou J., Budarf M., et al. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet. 86:1999;27-33.
    • (1999) Am J Med Genet , vol.86 , pp. 27-33
    • MacQuade, L.1    Christodoulou, J.2    Budarf, M.3
  • 20
    • 0037160529 scopus 로고    scopus 로고
    • Murine Tbx2 contains domains that activate and repress gene transcription
    • Paxton C., Zhao H., Chin Y., Langner K., Reecy J. Murine Tbx2 contains domains that activate and repress gene transcription. Gene. 283:2002;117-124.
    • (2002) Gene , vol.283 , pp. 117-124
    • Paxton, C.1    Zhao, H.2    Chin, Y.3    Langner, K.4    Reecy, J.5
  • 22
    • 0025054992 scopus 로고
    • Expression pattern of the mouse T gene and its role in mesoderm formation
    • Wilkinson D.G., Bhatt S., Herrmann B.G. Expression pattern of the mouse T gene and its role in mesoderm formation. Nature. 343:1990;657-659.
    • (1990) Nature , vol.343 , pp. 657-659
    • Wilkinson, D.G.1    Bhatt, S.2    Herrmann, B.G.3
  • 23
    • 0037389229 scopus 로고    scopus 로고
    • T-box genes in human disorders
    • Peckam E.A., Brook J.D. T-box genes in human disorders. Hum Mol Genet. 12:(suppl):2003;R37-R44.
    • (2003) Hum Mol Genet , vol.12 , Issue.SUPPL.
    • Peckam, E.A.1    Brook, J.D.2
  • 24
    • 0035115845 scopus 로고    scopus 로고
    • T-targets: Clues to understanding the functions of T-box proteins
    • Tada M., Smith J.C. T-targets: clues to understanding the functions of T-box proteins. Dev Growth Differ. 43:2001;1-11.
    • (2001) Dev Growth Differ , vol.43 , pp. 1-11
    • Tada, M.1    Smith, J.C.2
  • 25
    • 0036800398 scopus 로고    scopus 로고
    • An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome
    • Frank D.U., Fotheringham L.K., Brewer J.A., et al. An Fgf8 mouse mutant phenocopies human 22q11 deletion syndrome. Development. 129:2002;4591-4603.
    • (2002) Development , vol.129 , pp. 4591-4603
    • Frank, D.U.1    Fotheringham, L.K.2    Brewer, J.A.3
  • 26
    • 0036797067 scopus 로고    scopus 로고
    • A genetic link between Tbx1 and fibroblast growth factor signaling
    • Vitelli F., Taddei I., Morishima M., et al. A genetic link between Tbx1 and fibroblast growth factor signaling. Development. 129:2002;4605-4611.
    • (2002) Development , vol.129 , pp. 4605-4611
    • Vitelli, F.1    Taddei, I.2    Morishima, M.3
  • 27
    • 0036800025 scopus 로고    scopus 로고
    • Fgf8 is required for pharingeal arch and cardiovascular development
    • Abu-Issa R., Smyth G., Smock I., Yamamura K., Meyers E.N. Fgf8 is required for pharingeal arch and cardiovascular development. Development. 129:2002;4613-4625.
    • (2002) Development , vol.129 , pp. 4613-4625
    • Abu-Issa, R.1    Smyth, G.2    Smock, I.3    Yamamura, K.4    Meyers, E.N.5
  • 28
    • 0037439240 scopus 로고    scopus 로고
    • Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer
    • Yamagishi H., Maeda J., Hu T., et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17:2003;269-281.
    • (2003) Genes Dev , vol.17 , pp. 269-281
    • Yamagishi, H.1    Maeda, J.2    Hu, T.3
  • 29
    • 0028019184 scopus 로고
    • Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
    • Matsuoka R., Takao A., Kimura M., et al. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. Am J Med Genet. 53:1994;285-289.
    • (1994) Am J Med Genet , vol.53 , pp. 285-289
    • Matsuoka, R.1    Takao, A.2    Kimura, M.3
  • 30
    • 0028246223 scopus 로고
    • Velocardiofacial syndrome and DiGeorge sequence
    • Shprintzen R.J. Velocardiofacial syndrome and DiGeorge sequence. Med Genet. 31:1994;423-424.
    • (1994) Med Genet , vol.31 , pp. 423-424
    • Shprintzen, R.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.