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Volumn 24, Issue 1, 2013, Pages 126-129

RUNX2 quadruplication: Additional evidence toward a new form of syndromic craniosynostosis

Author keywords

cleidocranial dysplasia; craniosynostosis; RunX2

Indexed keywords

RUNX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR RUNX2;

EID: 84873322960     PISSN: 10492275     EISSN: 15363732     Source Type: Journal    
DOI: 10.1097/SCS.0b013e31826686d3     Document Type: Article
Times cited : (15)

References (23)
  • 2
    • 2342476573 scopus 로고    scopus 로고
    • Regulatory controls for osteoblast growth and differentiation: Role of RUNX/Cbfa/AML factors
    • Lian, JB, Javed A, Zaidi SK, et al. Regulatory controls for osteoblast growth and differentiation: role of RUNX/Cbfa/AML factors. Crit Rev Eukaryot Gene Exp 2004;14:1-14
    • (2004) Crit Rev Eukaryot Gene Exp , vol.14 , pp. 1-14
    • Lian, J.B.1    Javed, A.2    Zaidi, S.K.3
  • 4
    • 32044468546 scopus 로고    scopus 로고
    • Phosphorylation, acetylation and ubiquitination: The molecular basis of RUNX regulation
    • DOI 10.1016/j.gene.2005.10.017, PII S0378111905006335
    • Bae SC, Lee YH. Phosphorylation, acetylation and ubiquitination: the molecular basis of RUNX regulation. Gene 2006;366:58-66 (Pubitemid 43199594)
    • (2006) Gene , vol.366 , Issue.1 , pp. 58-66
    • Bae, S.-C.1    Lee, Y.H.2
  • 5
    • 33644872519 scopus 로고    scopus 로고
    • The new bone biology: Pathologic, molecular, and clinical correlates
    • CohenMMJr. The new bone biology: pathologic, molecular, and clinical correlates. Am J Med Genet A 2006;140:2646-2706
    • (2006) Am J Med Genet A , vol.140 , pp. 2646-2706
    • Cohen, R.J.M.M.1
  • 6
    • 33644505810 scopus 로고    scopus 로고
    • Runx2 phosphorylation induced by fibroblast growth factor-2/protein kinase C pathways
    • Kim BG, Kim HJ, Park HJ, et al. Runx2 phosphorylation induced by fibroblast growth factor-2/protein kinase C pathways. Proteomics 2006;6:1166-1174
    • (2006) Proteomics , vol.6 , pp. 1166-1174
    • Kim, B.G.1    Kim, H.J.2    Park, H.J.3
  • 9
    • 0036186852 scopus 로고    scopus 로고
    • Mutations in the RUNX2 gene in patients with cleidocranial dysplasia
    • DOI 10.1002/humu.10043
    • Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat 2002;19:209-216 (Pubitemid 34195181)
    • (2002) Human Mutation , vol.19 , Issue.3 , pp. 209-216
    • Otto, F.1    Kanegane, H.2    Mundlos, S.3
  • 10
    • 39049100912 scopus 로고    scopus 로고
    • A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
    • Tang S, Xu Q, Xu X, et al. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails. BMC Med Genet 2007;8:82
    • (2007) BMC Med Genet , vol.8 , pp. 82
    • Tang, S.1    Xu, Q.2    Xu, X.3
  • 11
    • 79551626290 scopus 로고    scopus 로고
    • RUNX2 analysis of Danish cleidocranial dysplasia families
    • Hansen L, Riis AK, Silahtaroglu A, et al. RUNX2 analysis of Danish cleidocranial dysplasia families. Clin Genet 2011;79:254-263
    • (2011) Clin Genet , vol.79 , pp. 254-263
    • Hansen, L.1    Riis, A.K.2    Silahtaroglu, A.3
  • 12
    • 79957909600 scopus 로고    scopus 로고
    • RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia
    • Lin WD, Lin SP, Wang CH, et al. RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia. Genet and Mol Biol 2011;34:201-204
    • (2011) Genet and Mol Biol , vol.34 , pp. 201-204
    • Lin, W.D.1    Lin, S.P.2    Wang, C.H.3
  • 14
    • 77956118641 scopus 로고    scopus 로고
    • Copy number variation analysis in single-suture craniosynostosis: Multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis
    • Mefford HC, Shafer N, Antonacci F, et al. Copy number variation analysis in single-suture craniosynostosis: multiple rare variants including RUNX2 duplication in two cousins with metopic craniosynostosis. Am J Med Genet Part A 2010;152A:2203-2210
    • (2010) Am J Med Genet Part A , vol.152 A , pp. 2203-2210
    • Mefford, H.C.1    Shafer, N.2    Antonacci, F.3
  • 16
    • 0016767245 scopus 로고
    • A 6p trisomy detected in a family with a ''giant satellite
    • Chiyo H, Kuroki Y, Matsui I, et al. A 6p trisomy detected in a family with a ''giant satellite.'' Humangenetik 1975;30:63-67
    • (1975) '' Humangenetik , vol.30 , pp. 63-67
    • Chiyo, H.1    Kuroki, Y.2    Matsui, I.3
  • 17
    • 0003027272 scopus 로고
    • Codominant expression of major histocompatibility complex (MHC) in a case of partial trisomy 6p resulting from an insertion and inversion involving heterologous chromosomes
    • Morton CC, Bieber FR, Mohanakumar T, et al. Codominant expression of major histocompatibility complex (MHC) in a case of partial trisomy 6p resulting from an insertion and inversion involving heterologous chromosomes. Am J Hum Genet 1980;32:81A
    • (1980) Am J Hum Genet , vol.32
    • Morton, C.C.1    Bieber, F.R.2    Mohanakumar, T.3
  • 19
    • 33845243913 scopus 로고    scopus 로고
    • A novel case of craniosynostosis caused by a 6p21 duplication that includes the entire RUNX2 gene
    • Williams L, Lester T, Beaumont H, et al. A novel case of craniosynostosis caused by a 6p21 duplication that includes the entire RUNX2 gene. J Med Genet 2005;42:S106
    • (2005) J Med Genet , vol.42
    • Williams, L.1    Lester, T.2    Beaumont, H.3
  • 20
    • 34548667902 scopus 로고    scopus 로고
    • Rapid maxillary distraction protocol utilizing the halo distraction system and rigid internal fixation
    • DOI 10.1597/06-040.1
    • Baker SB, Reid RR, Burkey B, et al. Rapid maxillary distraction protocol utilizing the halo distraction system and rigid internal fixation. Cleft Palate Craniofac J 2007;44:476-481 (Pubitemid 47417140)
    • (2007) Cleft Palate-Craniofacial Journal , vol.44 , Issue.5 , pp. 476-481
    • Baker, S.B.1    Reid, R.R.2    Burkey, B.3    Bartlett, S.P.4
  • 21
    • 0036333736 scopus 로고    scopus 로고
    • High bone resorption in adult aging transgenic mice overexpressing Cbfa1/Runx2 in cells of the osteoblastic lineage
    • DOI 10.1128/MCB.22.17.6222-6233.2002
    • Geoffroy V, Kneissel M, Fournier B, et al. High bone resorption in adult aging transgenic mice overexpressing cbfa1/runx2 in cells of the osteoblastic lineage. Mol Cell Biol 2002;22:6222-6233 (Pubitemid 34857841)
    • (2002) Molecular and Cellular Biology , vol.22 , Issue.17 , pp. 6222-6233
    • Geoffroy, V.1    Kneissel, M.2    Fournier, B.3    Boyde, A.4    Matthias, P.5
  • 22
    • 0032607259 scopus 로고    scopus 로고
    • Management of severe cleft maxillary deficiency with distraction osteogenesis: Procedure and results
    • Figueroa AA, Polley JW. Management of severe cleft maxillary deficiency with distraction osteogenesis: procedure and results. Am J Orthod Dentofacial Orthop 1999;115:1-12
    • (1999) Am J Orthod Dentofacial Orthop , vol.115 , pp. 1-12
    • Figueroa, A.A.1    Polley, J.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.