SCOPUS 정보 검색 플랫폼

Acta Paediatrica, International Journal of Paediatrics

Volumn 89, Issue 10, 2000, Pages 1262-1265

A stop codon mutation in the CBFA 1 gene causes cleidocranial dysplasia

(4) Tsai, F J a Wu, J Y a Lin, W D a Tsai, C H a

a CHINA MEDICAL UNIVERSITY HOSPITAL (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CORE BINDING FACTOR ALPHA 1; DNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BRACHYDACTYLY; CASE REPORT; CHILD; CLEIDOCRANIAL DYSPLASIA; CODON; DNA BINDING; GENE MUTATION; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0033735528 PISSN: 08035253 EISSN: None Source Type: Journal
DOI: 10.1111/j.1651-2227.2000.tb00746.x Document Type: Article

Times cited : (14)

References (12)

1
- 0007325532
- Syndromes affecting bone: Other skeletal disorders
- Syndromes of the head and neck, 3rd ed. Oxford: Oxford University Press
- (1990) , pp. 249-253
- Gorlin, R.J.¹ Cohen, M.M.² Levin, L.S.³

2
- 0033048965
- Cleidocranial dysplasia: Clinical and molecular genetics
- (1999) J Med Genet , vol.36 , pp. 177-182
- Mundlos, S.¹

3
- 0031718042
- Cbfa 1 in bone development
- (1998) Curr Opin Genet Dev , vol.8 , pp. 494-499
- Komori, T.¹ Kishimoto, T.²

4
- 0031671856
- Genetic control of cell differentiation in the skeleton
- (1998) Curr Opin Cell Biol , vol.10 , pp. 614-619
- Ducy, P.¹ Karsenty, G.²

5
- 0028804629
- Expression of the runt domain-encoding PEBP 2α gene in T cells during thymic development
- (1995) Mol Cell Biol , vol.15 , pp. 1662-1670
- Satake, M.¹ Nomura, S.² Yamaguchi-Iwai, Y.³ Takahama, Y.⁴ Hashimoto, Y.⁵ Niki, M.⁶

6
- 0030678549
- Osf 2/Cbfa1: A transcriptional activator of osteoblast differentiation
- (1997) Cell , vol.89 , pp. 747-754
- Ducy, P.¹ Zhang, R.² Geoffroy, V.³ Ridall, A.L.⁴ Karsenty, G.⁵

7
- 0030684749
- Targeted disruption of Cbfa 1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
- (1997) Cell , vol.89 , pp. 755-764
- Komori, T.¹ Yagi, H.² Nomura, S.³ Yamaguchi, A.⁴ Sasaki, K.⁵ Deguchi, K.⁶

8
- 0030666372
- Cbfa 1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
- (1997) Cell , vol.89 , pp. 765-771
- Otto, F.¹ Thornell, A.P.² Crompton, T.³ Denzel, A.⁴ Gilmour, K.C.⁵ Rosewell, I.R.⁶

9
- 15444351110
- Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
- (1997) Cell , vol.89 , pp. 773-779
- Mundlos, S.¹ Otto, F.² Mundlos, C.³ Mulliken, J.B.⁴ Aylsworth, A.S.⁵ Albright, S.⁶

10
- 0030927622
- Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
- (1997) Nature Genet , vol.16 , pp. 307-310
- Lee, B.¹ Thirunavukkarasu, K.² Zhou, L.³ Pastore, L.⁴ Baldini, A.⁵ Hecht, J.⁶

11
- 0033365108
- Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia
- (1999) Am J Hum Genet , vol.65 , pp. 1268-1278
- Quack, I.¹ Vonderstrass, B.² Stock, M.³ Aylsworth, A.S.⁴ Becker, A.⁵ Brueton, L.⁶

12
- 0032718003
- CBFA 1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
- (1999) Hum Mol Genet , vol.8 , pp. 2311-2316
- Zhou, G.¹ Chen, Y.² Zhou, L.³ Thirunavukkarasu, K.⁴ Hecht, J.⁵ Chitayat, D.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.