메뉴 건너뛰기




Volumn 65, Issue 5, 1999, Pages 1268-1278

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia

Author keywords

[No Author keywords available]

Indexed keywords

DNA BINDING PROTEIN;

EID: 0033365108     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302622     Document Type: Article
Times cited : (187)

References (24)
  • 2
    • 0033560784 scopus 로고    scopus 로고
    • A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development
    • Ducy P, Starbuck M, Priemel M, Shen J, Pinero G, Geoffroy V, Amling M, et al (1999) A Cbfa1-dependent genetic pathway controls bone formation beyond embryonic development. Genes Dev 13:1025-1036
    • (1999) Genes Dev , vol.13 , pp. 1025-1036
    • Ducy, P.1    Starbuck, M.2    Priemel, M.3    Shen, J.4    Pinero, G.5    Geoffroy, V.6    Amling, M.7
  • 3
    • 0030678549 scopus 로고    scopus 로고
    • Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation
    • Ducy P, Zhang R, Geoffroy V, Ridell AL, Karsenty G (1997) Osf2/Cbfa1: a transcriptional activator of osteoblast differentiation. Cell 89:747-754
    • (1997) Cell , vol.89 , pp. 747-754
    • Ducy, P.1    Zhang, R.2    Geoffroy, V.3    Ridell, A.L.4    Karsenty, G.5
  • 4
    • 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 (1998) Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. Mamm Genome 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
  • 5
    • 8944250665 scopus 로고    scopus 로고
    • Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: A nationwide study of Btk deficiency in Japan
    • Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, et al (1996) Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 88:561-573
    • (1996) Blood , vol.88 , pp. 561-573
    • Hashimoto, S.1    Tsukada, S.2    Matsushita, M.3    Miyawaki, T.4    Niida, Y.5    Yachie, A.6    Kobayashi, S.7
  • 6
    • 0030866935 scopus 로고    scopus 로고
    • Mouse clavicular development: Analysis of wild-type and cleidocranial dysplasia mutant mice
    • Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S (1997) Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Dev Dyn 210:33-40
    • (1997) Dev Dyn , vol.210 , pp. 33-40
    • Huang, L.F.1    Fukai, N.2    Selby, P.B.3    Olsen, B.R.4    Mundlos, S.5
  • 7
    • 12644307234 scopus 로고    scopus 로고
    • Functional dissection of the a and b subunits of transcription factor PEBP2 and the redox susceptibility of its DNA binding activity
    • Kagoshima H, Akamatsu Y, Ito Y, Shigesada K (1996) Functional dissection of the a and b subunits of transcription factor PEBP2 and the redox susceptibility of its DNA binding activity. J Biol Chem 271:33074-33082
    • (1996) J Biol Chem , vol.271 , pp. 33074-33082
    • Kagoshima, H.1    Akamatsu, Y.2    Ito, Y.3    Shigesada, K.4
  • 8
    • 0031940065 scopus 로고    scopus 로고
    • Intrinsic transcriprional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor a subunit revealed in the presence of the β subunit
    • Kanno T, Kanno Y, Chen LF, Ogawa E, Kim WY, Ito Y (1998) Intrinsic transcriprional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor a subunit revealed in the presence of the β subunit. Mol Cell Biol 18:2444-2454
    • (1998) Mol Cell Biol , vol.18 , pp. 2444-2454
    • Kanno, T.1    Kanno, Y.2    Chen, L.F.3    Ogawa, E.4    Kim, W.Y.5    Ito, Y.6
  • 9
    • 0033014044 scopus 로고    scopus 로고
    • Regulation of chondrocyte differentiation by Cbfa1
    • Kim IS, Otto F, Zabel B, Mundlos S (1999) Regulation of chondrocyte differentiation by Cbfa1. Mech Dev 80:159-170
    • (1999) Mech Dev , vol.80 , pp. 159-170
    • Kim, I.S.1    Otto, F.2    Zabel, B.3    Mundlos, S.4
  • 10
    • 0030684749 scopus 로고    scopus 로고
    • Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
    • Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, et al (1997) Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764
    • (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    Shimizu, Y.7
  • 11
    • 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, et al (1997) Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 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
  • 12
    • 0028136578 scopus 로고
    • AML1, AML2 and AML3 the human members of the runt domain gene-family: CDNA srrucrure, expression, and chromosomal localization
    • Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L, Groner Y (1994) AML1, AML2 and AML3 the human members of the runt domain gene-family: cDNA srrucrure, expression, and chromosomal localization. Genomics 23: 425-432
    • (1994) Genomics , vol.23 , pp. 425-432
    • Levanon, D.1    Negreanu, V.2    Bernstein, Y.3    Bar-Am, I.4    Avivi, L.5    Groner, Y.6
  • 13
    • 0030745608 scopus 로고    scopus 로고
    • Subcellular partitioning of transcription factors during osteoblast differentiation: Developmental association of the AML/CBFa/PEBP2a-related transcription factor-NMP-2 with the nuclear matrix
    • Lindenmuth DM, van Wijnen AJ, Hiebert S, Stein JL, Lian JB, Stein GS (1997) Subcellular partitioning of transcription factors during osteoblast differentiation: developmental association of the AML/CBFa/PEBP2a-related transcription factor-NMP-2 with the nuclear matrix. J Cell Biochem 66: 123-132
    • (1997) J Cell Biochem , vol.66 , pp. 123-132
    • Lindenmuth, D.M.1    Van Wijnen, A.J.2    Hiebert, S.3    Stein, J.L.4    Lian, J.B.5    Stein, G.S.6
  • 14
    • 0033048965 scopus 로고    scopus 로고
    • Cleidocranial dysplasia: Clinical and molecular genetics
    • Mundlos S (1999) Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet 36:177-182
    • (1999) J Med Genet , vol.36 , pp. 177-182
    • Mundlos, S.1
  • 17
    • 0019133661 scopus 로고
    • Mutations affecting segment number and polarity in Drosophila
    • Nüsslein-Volhard C, Wieschaus E (1980) Mutations affecting segment number and polarity in Drosophila. Nature 287: 795-801
    • (1980) Nature , vol.287 , pp. 795-801
    • Nüsslein-Volhard, C.1    Wieschaus, E.2
  • 18
    • 0030061554 scopus 로고    scopus 로고
    • AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis
    • Okuda T, van Deursen J, Hiebert SW, Grosveld G, Downing JR (1996) AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84:321-330
    • (1996) Cell , vol.84 , pp. 321-330
    • Okuda, T.1    Van Deursen, J.2    Hiebert, S.W.3    Grosveld, G.4    Downing, J.R.5
  • 19
    • 0030666372 scopus 로고    scopus 로고
    • Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
    • Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GWH, et al (1997) Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89: 765-771
    • (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    Stamp, G.W.H.7
  • 20
    • 0030029455 scopus 로고    scopus 로고
    • Nuclear retention of COL1A1 messenger rna identifies null alelles causing mild osteogenesis imperfecta
    • Redford-Badwal DA, Stover ML, Valli M, McKinstry MB, Rowe DW (1996) Nuclear retention of COL1A1 messenger RNA identifies null alelles causing mild osteogenesis imperfecta. J Clin Invest 97:1035-1040
    • (1996) J Clin Invest , vol.97 , pp. 1035-1040
    • Redford-Badwal, D.A.1    Stover, M.L.2    Valli, M.3    McKinstry, M.B.4    Rowe, D.W.5
  • 21
    • 0026936126 scopus 로고
    • Human homologs of a Drosophila enhancer of split gene product define a novel family of nuclear proteins
    • Stifani S, Blaumueller CM, Redhead NJ, Hill RE, Artavanis-Tsakonas S (1992) Human homologs of a Drosophila enhancer of split gene product define a novel family of nuclear proteins. Nat Genet 2:119-127
    • (1992) Nat Genet , vol.2 , pp. 119-127
    • Stifani, S.1    Blaumueller, C.M.2    Redhead, N.J.3    Hill, R.E.4    Artavanis-Tsakonas, S.5
  • 22
    • 0031836965 scopus 로고    scopus 로고
    • Two domains unique to osteoblast-specific transcription factor Osf2/Chfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfβ
    • Thirunavukkarasu K, Mahajan M, McLarren KW, Stifani S, Karsenty G (1998) Two domains unique to osteoblast-specific transcription factor Osf2/Chfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfβ. Mol Cell Biol 18:4197-4208
    • (1998) Mol Cell Biol , vol.18 , pp. 4197-4208
    • Thirunavukkarasu, K.1    Mahajan, M.2    McLarren, K.W.3    Stifani, S.4    Karsenty, G.5
  • 23
    • 0029918597 scopus 로고    scopus 로고
    • Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis
    • Wang Q, Stacy T, Binder M, Marin-Padilla M, Sharpe AH, Speck NA (1996) Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci USA 93: 3444-3449
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 3444-3449
    • Wang, Q.1    Stacy, T.2    Binder, M.3    Marin-Padilla, M.4    Sharpe, A.H.5    Speck, N.A.6
  • 24
    • 0032479379 scopus 로고    scopus 로고
    • Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor
    • Xiao ZS, Thomas R, Hinson TK, Quarles LD (1998) Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor. Gene 214:187-197
    • (1998) Gene , vol.214 , pp. 187-197
    • Xiao, Z.S.1    Thomas, R.2    Hinson, T.K.3    Quarles, L.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.