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Volumn 7, Issue 5, 2014, Pages 2490-2495

A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia

Author keywords

Cleidocranial dysplasia; Mutation; RUNX2 gene

Indexed keywords

RUNX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR RUNX2;

EID: 84902517434     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (10)

References (21)
  • 2
    • 0033048965 scopus 로고    scopus 로고
    • Cleidocranial dysplasia: clinical and molecular genetics
    • Mundlos S.. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 1999; 36: 177-182.
    • (1999) J Med Genet , vol.36 , pp. 177-182
    • Mundlos, S.1
  • 3
    • 0343726909 scopus 로고
    • Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head"
    • Jackson WP.. Osteo-dental dysplasia (cleido-cranial dysostosis); the "Arnold head". Acta Med Scand 1951; 139: 292-307.
    • (1951) Acta Med Scand , vol.139 , pp. 292-307
    • Jackson, W.P.1
  • 6
    • 0030927622 scopus 로고    scopus 로고
    • Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
    • Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G.. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 1997; 16: 307-310.
    • (1997) Nat Genet , vol.16 , pp. 307-310
    • Lee, B.1    Thirunavukkarasu, K.2    Zhou, L.3    Pastore, L.4    Baldini, A.5    Hecht, J.6    Geoffroy, V.7    Ducy, P.8    Karsenty, G.9
  • 8
    • 0036186852 scopus 로고    scopus 로고
    • Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
    • Otto F, Kanegane H, Mundlos S.. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 2002; 19: 209-216.
    • (2002) Hum Mutat , vol.19 , pp. 209-216
    • Otto, F.1    Kanegane, H.2    Mundlos, S.3
  • 10
    • 84862302749 scopus 로고    scopus 로고
    • Cleidocranial dysplasia
    • GeneReviews™ [Internet]
    • Mendoza-Londono R, Lee B. Cleidocranial dysplasia. GeneReviews™ [Internet]. (http://www.ncbi.nlm.nih.gov/books/NBK1513/).
    • Mendoza-Londono, R.1    Lee, B.2
  • 11
    • 0018632018 scopus 로고
    • Cleido cranial dysostosis in five generations of a family with some atypical roentgenologic features
    • Aggarwal AK, Gargaya S, Sharma S, Pal LS, Bahl L, Puri DS, Sarin NK.. Cleido cranial dysostosis in five generations of a family with some atypical roentgenologic features. Indian Pediatr 1979; 16: 1145-1150.
    • (1979) Indian Pediatr , vol.16 , pp. 1145-1150
    • Aggarwal, A.K.1    Gargaya, S.2    Sharma, S.3    Pal, L.S.4    Bahl, L.5    Puri, D.S.6    Sarin, N.K.7
  • 17
    • 84887853496 scopus 로고    scopus 로고
    • Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family
    • Wang S, Zhang S, Wang Y, Chen Y, Zhou L.. Cleidocranial dysplasia syndrome: clinical characteristics and mutation study of a Chinese family. Int J Clin Exp Med 2013; 6: 900-907.
    • (2013) Int J Clin Exp Med , vol.6 , pp. 900-907
    • Wang, S.1    Zhang, S.2    Wang, Y.3    Chen, Y.4    Zhou, L.5
  • 18
    • 0031921591 scopus 로고    scopus 로고
    • Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function
    • Geoffroy V, Corral DA, Zhou L, Lee B, Karsenty G.. Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. Mamm Genome 1998; 9: 54-57.
    • (1998) Mamm Genome , vol.9 , pp. 54-57
    • Geoffroy, V.1    Corral, D.A.2    Zhou, L.3    Lee, B.4    Karsenty, G.5
  • 20
    • 78149385593 scopus 로고    scopus 로고
    • Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia
    • Zhang C, Zheng S, Wang Y, Zhao Y, Zhu J, Ge L.. Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia. Mutagenesis 2012; 25: 589-594.
    • (2012) Mutagenesis , vol.25 , pp. 589-594
    • Zhang, C.1    Zheng, S.2    Wang, Y.3    Zhao, Y.4    Zhu, J.5    Ge, L.6
  • 21
    • 0036781942 scopus 로고    scopus 로고
    • Functional analysis of RUNX mutations in Japanese cases with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations
    • Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K.. Functional analysis of RUNX mutations in Japanese cases with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 2002; 71: 724-738.
    • (2002) Am J Hum Genet , vol.71 , pp. 724-738
    • Yoshida, T.1    Kanegane, H.2    Osato, M.3    Yanagida, M.4    Miyawaki, T.5    Ito, Y.6    Shigesada, K.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.