메뉴 건너뛰기




Volumn 158 A, Issue 10, 2012, Pages 2616-2620

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2

Author keywords

20p12.3; BMP2; Cleft palate; Microarray analysis; Microdeletion

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; GENOMIC DNA;

EID: 84866508403     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35594     Document Type: Article
Times cited : (17)

References (24)
  • 3
    • 0031040450 scopus 로고    scopus 로고
    • Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia
    • Barlow AJ, Francis-West PH. 1997. Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia. Development 124: 391-398.
    • (1997) Development , vol.124 , pp. 391-398
    • Barlow, A.J.1    Francis-West, P.H.2
  • 5
    • 0031667418 scopus 로고    scopus 로고
    • Racial and ethnic variations in the prevalence of orofacial clefts in California, 1983-1992
    • Croen LA, Shaw GM, Wasserman CR, Tolarova MM. 1998. Racial and ethnic variations in the prevalence of orofacial clefts in California, 1983-1992. Am J Med Genet 79: 42-47.
    • (1998) Am J Med Genet , vol.79 , pp. 42-47
    • Croen, L.A.1    Shaw, G.M.2    Wasserman, C.R.3    Tolarova, M.M.4
  • 6
    • 0030844354 scopus 로고    scopus 로고
    • Bone morphogenetic proteins (BMPs) as regulators of dorsal forebrain development
    • Furuta Y, Piston DW, Hogan BL. 1997. Bone morphogenetic proteins (BMPs) as regulators of dorsal forebrain development. Development 124: 2203-2212.
    • (1997) Development , vol.124 , pp. 2203-2212
    • Furuta, Y.1    Piston, D.W.2    Hogan, B.L.3
  • 8
    • 0024267719 scopus 로고
    • Etiology of facial clefts: Prospective evaluation of 428 patients
    • Jones MC. 1988. Etiology of facial clefts: Prospective evaluation of 428 patients. Cleft Palate J 25: 16-20.
    • (1988) Cleft Palate J , vol.25 , pp. 16-20
    • Jones, M.C.1
  • 9
    • 0034725053 scopus 로고    scopus 로고
    • Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases
    • Jones JM, Morrell JC, Gould SJ. 2000. Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases. J Biol Chem 275: 12590-12597.
    • (2000) J Biol Chem , vol.275 , pp. 12590-12597
    • Jones, J.M.1    Morrell, J.C.2    Gould, S.J.3
  • 13
    • 56949097590 scopus 로고    scopus 로고
    • A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome
    • Le Gloan L, Pichon O, Isidor B, Boceno M, Rival JM, David A, Le Caignec C. 2008. A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome. Eur J Med Genet 51: 651-657.
    • (2008) Eur J Med Genet , vol.51 , pp. 651-657
    • Le Gloan, L.1    Pichon, O.2    Isidor, B.3    Boceno, M.4    Rival, J.M.5    David, A.6    Le Caignec, C.7
  • 15
    • 0024991197 scopus 로고
    • Organogenesis and pattern formation in the mouse: RNA distribution patterns suggest a role for bone morphogenetic protein-2A (BMP-2A)
    • Lyons KM, Pelton RW, Hogan BL. 1990. Organogenesis and pattern formation in the mouse: RNA distribution patterns suggest a role for bone morphogenetic protein-2A (BMP-2A). Development 109: 833-844.
    • (1990) Development , vol.109 , pp. 833-844
    • Lyons, K.M.1    Pelton, R.W.2    Hogan, B.L.3
  • 16
    • 0033566915 scopus 로고    scopus 로고
    • Multiple roles of bone morphogenetic protein signaling in the regulation of cortical cell number and phenotype
    • Mabie PC, Mehler MF, Kessler JA. 1999. Multiple roles of bone morphogenetic protein signaling in the regulation of cortical cell number and phenotype. J Neurosci 19: 7077-7088.
    • (1999) J Neurosci , vol.19 , pp. 7077-7088
    • Mabie, P.C.1    Mehler, M.F.2    Kessler, J.A.3
  • 20
    • 77957905897 scopus 로고    scopus 로고
    • BMP2 expression in the adult rat brain
    • Sato T, Mikawa S, Sato K. 2010. BMP2 expression in the adult rat brain. J Comp Neurol 518: 4513-4530.
    • (2010) J Comp Neurol , vol.518 , pp. 4513-4530
    • Sato, T.1    Mikawa, S.2    Sato, K.3
  • 22
    • 77951230456 scopus 로고    scopus 로고
    • Novel thioredoxin-related transmembrane protein TMX4 has reductase activity
    • Sugiura Y, Araki K, Iemura S, Natsume T, Hoseki J, Nagata K. 2010. Novel thioredoxin-related transmembrane protein TMX4 has reductase activity. J Biol Chem 285: 7135-7142.
    • (2010) J Biol Chem , vol.285 , pp. 7135-7142
    • Sugiura, Y.1    Araki, K.2    Iemura, S.3    Natsume, T.4    Hoseki, J.5    Nagata, K.6
  • 23
    • 34250019537 scopus 로고
    • Bone: Formation by autoinduction
    • Urist MR. 1965. Bone: Formation by autoinduction. Science 150: 893-899.
    • (1965) Science , vol.150 , pp. 893-899
    • Urist, M.R.1
  • 24
    • 0032080199 scopus 로고    scopus 로고
    • Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression
    • Zhang D, Mehler MF, Song Q, Kessler JA. 1998. Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression. J Neurosci 18: 3314-3326.
    • (1998) J Neurosci , vol.18 , pp. 3314-3326
    • Zhang, D.1    Mehler, M.F.2    Song, Q.3    Kessler, J.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.