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Volumn 79, Issue 4, 2011, Pages 330-332

Exploring the genetic origins of treacher collins syndrome

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED RNA POLYMERASE; PROTEIN; PROTEIN POLR1D; PROTEIN TCOF1; PROTIEN POLR1C; UNCLASSIFIED DRUG;

EID: 79952236803     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01632.x     Document Type: Note
Times cited : (7)

References (8)
  • 1
    • 68049100193 scopus 로고    scopus 로고
    • A synonymousmutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon
    • Macaya D, Katsanis SH, Hefferon TW et al A synonymousmutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon. Am J Med Genet Part A 2009: 149A: 1624-1627.
    • (2009) Am J Med Genet Part A , vol.149 A , pp. 1624-1627
    • Macaya, D.1    Katsanis, S.2    Hefferon, T.3
  • 2
    • 7744244944 scopus 로고    scopus 로고
    • Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
    • Teber OA, Gillesen-Kaesbach G, Fischer S. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004: 12: 879-890.
    • (2004) Eur J Hum Genet , vol.12 , pp. 879-890
    • Teber, O.1    Gillesen-Kaesbach, G.2    Fischer, S.3
  • 3
    • 0033800213 scopus 로고    scopus 로고
    • High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
    • Splendore A, Silva EO, Alonso LG. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000: 16 (4): 315-322.
    • (2000) Hum Mutat , vol.16 , Issue.4 , pp. 315-322
    • Splendore, A.1    Silva, E.2    Alonso, L.3
  • 4
    • 3242671307 scopus 로고    scopus 로고
    • The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
    • Valdez BC, Henning D, So RB. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A 2004: 101 (29): 10709-10714.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , Issue.29 , pp. 10709-10714
    • Valdez, B.1    Henning, D.2    So, R.3
  • 5
    • 33748614339 scopus 로고    scopus 로고
    • Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
    • Dixon J, Jones NC, Sandell LL. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A 2006: 103 (36): 13403-13408.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , Issue.36 , pp. 13403-13408
    • Dixon, J.1    Jones, N.2    Sandell, L.3
  • 6
    • 0030992775 scopus 로고    scopus 로고
    • Reconstitution of yeast and Arabidopsis RNA polymerase α-like subunit heterodimers.
    • Larkin RM, Guilfoyle TJ. Reconstitution of yeast and Arabidopsis RNA polymerase α-like subunit heterodimers. J Biol Chem 1997: 272: 12824-12830.
    • (1997) J Biol Chem , vol.272 , pp. 12824-12830
    • Larkin, R.1    Guilfoyle, T.2
  • 8
    • 0022388841 scopus 로고
    • Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in hutterite and mennonite kindreds.
    • Lowry RB, Machin GA, Morgan K. Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in hutterite and mennonite kindreds. Am J Med Genet 1985: 22 (3): 531-543.
    • (1985) Am J Med Genet , vol.22 , Issue.3 , pp. 531-543
    • Lowry, R.1    Machin, G.2    Morgan, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.