메뉴 건너뛰기




Volumn 31, Issue 7, 2010, Pages 794-800

Expression and association data strongly support JARID2 involvement in nonsyndromic cleft lip with or without cleft palate

Author keywords

CL P; Cleft lip; Cleft palate; JARID2; Jumonji

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 6P; CLEFT LIP; CLEFT PALATE; CONTROLLED STUDY; EMBRYO; EPITHELIUM CELL; FACE DEVELOPMENT; GENE; GENE EXPRESSION; GENE FUNCTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; JARID2 GENE; MAJOR CLINICAL STUDY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OFC1 GENE; OROFACIAL DEVELOPMENT; PRIORITY JOURNAL; ANIMAL; C57BL MOUSE; COMPLICATION; EMBRYOLOGY; FAMILY HEALTH; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; IN SITU HYBRIDIZATION; MALE; METABOLISM; MUTATION; PALATE; PREGNANCY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 77954120766     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21266     Document Type: Article
Times cited : (18)

References (30)
  • 1
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Barrett JC, Fry B, Maller J, Daly MJ. 2005. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265. (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 3
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • DOI 10.1038/ng.f.136, PII NGF136
    • Bodmer W, Bonilla C. 2008. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet 40:695-701. (Pubitemid 351748875)
    • (2008) Nature Genetics , vol.40 , Issue.6 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 5
    • 0036366914 scopus 로고    scopus 로고
    • Association between cleft lip/palate phenotype and non syndrome microsatellite markers located in 6p, 17q and 19q
    • Carreno H, Suazo J, Paredes M, Sola J, Valenzuela J, Blanco R. 2002. [Association between cleft lip/palate phenotype and non syndrome microsatellite markers located in 6p, 17q and 19q]. Rev Med Chil 130:35-44.
    • (2002) Rev Med Chil , vol.130 , pp. 35-44
    • Carreno, H.1    Suazo, J.2    Paredes, M.3    Sola, J.4    Valenzuela, J.5    Blanco, R.6
  • 6
    • 3042597184 scopus 로고    scopus 로고
    • Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region
    • DOI 10.1159/000078008
    • Davies SJ, Wise C, Venkatesh B, Mirza G, Jefferson A, Volpi EV, Ragoussis J. 2004. Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. Cytogenet Genome Res 105:47-53. (Pubitemid 38823856)
    • (2004) Cytogenetic and Genome Research , vol.105 , Issue.1 , pp. 47-53
    • Davies, S.J.1    Wise, C.2    Venkatesh, B.3    Mirza, G.4    Jefferson, A.5    Volpi, E.V.6    Ragoussis, J.7
  • 7
    • 0023176710 scopus 로고
    • Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6
    • Eiberg H, Bixler D, Nielsen LS, Conneally PM, Mohr J. 1987. Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet 32:129-132. (Pubitemid 17122982)
    • (1987) Clinical Genetics , vol.32 , Issue.2 , pp. 129-132
    • Eiberg, H.1    Bixler, D.2    Nielsen, L.S.3
  • 8
    • 27544494739 scopus 로고    scopus 로고
    • On confidence intervals for genotype relative risks and attributable risks from case parent trio designs for candidate-gene studies
    • DOI 10.1159/000088528
    • Franke D, Philippi A, Tores F, Hager J, Ziegler A, Konig IR. 2005. On confidence intervals for genotype relative risks and attributable risks from case parent trio designs for candidate-gene studies. Hum Hered 60:81-88. (Pubitemid 41540635)
    • (2005) Human Heredity , vol.60 , Issue.2 , pp. 81-88
    • Franke, D.1    Philippi, A.2    Tores, F.3    Hager, J.4    Ziegler, A.5    Konig, I.R.6
  • 10
    • 0035055544 scopus 로고    scopus 로고
    • The family based association test method: Strategies for studying general genotype-phenotype associations
    • DOI 10.1038/sj.ejhg.5200625
    • Horvath S, Xu X, Laird NM. 2001. The family based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306. (Pubitemid 32366699)
    • (2001) European Journal of Human Genetics , vol.9 , Issue.4 , pp. 301-306
    • Horvath, S.1    Xu, X.2    Laird, N.M.3
  • 11
    • 0347992868 scopus 로고    scopus 로고
    • Family-Based Tests for Associating Haplotypes with General Phenotype Data: Application to Asthma Genetics
    • DOI 10.1002/gepi.10295
    • Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM. 2004. Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol 26:61-69. (Pubitemid 38036644)
    • (2004) Genetic Epidemiology , vol.26 , Issue.1 , pp. 61-69
    • Horvath, S.1    Xu, X.2    Lake, S.L.3    Silverman, E.K.4    Weiss, S.T.5    Laird, N.M.6
  • 12
    • 11244302905 scopus 로고    scopus 로고
    • Roles of JUMONJI in mouse embryonic development
    • DOI 10.1002/dvdy.20204
    • Jung J, Mysliwiec MR, Lee Y. 2005. Roles of JUMONJI in mouse embryonic development. Dev Dyn 232:21-32. (Pubitemid 40070855)
    • (2005) Developmental Dynamics , vol.232 , Issue.1 , pp. 21-32
    • Jung, J.1    Mysliwiec, M.R.2    Lee, Y.3
  • 13
    • 0142242189 scopus 로고    scopus 로고
    • JUMONJI, a Critical Factor for Cardiac Development, Functions as a Transcriptional Repressor
    • DOI 10.1074/jbc.M307386200
    • Kim TG, Kraus JC, Chen J, Lee Y. 2003. JUMONJI, a critical factor for cardiac development, functions as a transcriptional repressor. J Biol Chem 278: 42247-42255. (Pubitemid 37310492)
    • (2003) Journal of Biological Chemistry , vol.278 , Issue.43 , pp. 42247-42255
    • Kim, T.-G.1    Kraus, J.C.2    Chen, J.3    Lee, Y.4
  • 15
    • 2642537846 scopus 로고    scopus 로고
    • Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains
    • Marigo V, Nigro A, Pecci A, Montanaro D, Di Stazio M, Balduini CL, Savoia A. 2004. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics 83:1125-1133.
    • (2004) Genomics , vol.83 , pp. 1125-1133
    • Marigo, V.1    Nigro, A.2    Pecci, A.3    Montanaro, D.4    Di Stazio, M.5    Balduini, C.L.6    Savoia, A.7
  • 18
    • 2442651359 scopus 로고    scopus 로고
    • A decade of discoveries in cardiac biology
    • Olson EN. 2004. A decade of discoveries in cardiac biology. Nat Med 10:467-474.
    • (2004) Nat Med , vol.10 , pp. 467-474
    • Olson, E.N.1
  • 19
    • 0034647916 scopus 로고    scopus 로고
    • Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element
    • DOI 10.1074/jbc.M910165199
    • Pagani F, Buratti E, Stuani C, Romano M, Zuccato E, Niksic M, Giglio L, Faraguna D, Baralle FE. 2000. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 275:21041-21047. (Pubitemid 30481793)
    • (2000) Journal of Biological Chemistry , vol.275 , Issue.28 , pp. 21041-21047
    • Pagani, F.1    Buratti, E.2    Stuani, C.3    Romano, M.4    Zuccato, E.5    Niksic, M.6    Giglio, L.7    Faraguna, D.8    Baralle, F.E.9
  • 20
    • 0037899998 scopus 로고    scopus 로고
    • New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12
    • DOI 10.1093/hmg/ddg131
    • Pagani F, Stuani C, Tzetis M, Kanavakis E, Efthymiadou A, Doudounakis S, Casals T, Baralle FE. 2003. New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12. Hum Mol Genet 12:1111-1120. (Pubitemid 36622143)
    • (2003) Human Molecular Genetics , vol.12 , Issue.10 , pp. 1111-1120
    • Pagani, F.1    Stuani, C.2    Tzetis, M.3    Kanavakis, E.4    Efthymiadou, A.5    Doudounakis, S.6    Casals, T.7    Baralle, F.E.8
  • 23
    • 72249119297 scopus 로고    scopus 로고
    • Jarid2/ Jumonji coordinates control of PRC2 enzymatic activity and target gene occupancy in pluripotent cells
    • Peng JC, Valouev A, Swigut T, Zhang J, Zhao Y, Sidow A, Wysocka J. 2009. Jarid2/ Jumonji coordinates control of PRC2 enzymatic activity and target gene occupancy in pluripotent cells. Cell 139:1290-1302.
    • (2009) Cell , vol.139 , pp. 1290-1302
    • Peng, J.C.1    Valouev, A.2    Swigut, T.3    Zhang, J.4    Zhao, Y.5    Sidow, A.6    Wysocka, J.7
  • 24
    • 0034033146 scopus 로고    scopus 로고
    • Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs
    • Prescott NJ, Lees MM, Winter RM, Malcolm S. 2000. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106:345-350.
    • (2000) Hum Genet , vol.106 , pp. 345-350
    • Prescott, N.J.1    Lees, M.M.2    Winter, R.M.3    Malcolm, S.4
  • 25
    • 0032764326 scopus 로고    scopus 로고
    • Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions
    • DOI 10.1017/S0003480099007277
    • Scapoli C, Collins A, Martinelli M, Pezzetti F, Scapoli L, Tognon M. 1999. Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions. Ann Hum Genet 63(Pt 1):17-25. (Pubitemid 29346591)
    • (1999) Annals of Human Genetics , vol.63 , Issue.1 , pp. 17-25
    • Scapoli, C.1    Collins, A.2    Martinelli, M.3    Pezzetti, F.4    Scapoli, L.5    Tognon, M.6
  • 26
    • 0031571130 scopus 로고    scopus 로고
    • Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate
    • DOI 10.1006/geno.1997.4798
    • Scapoli L, Pezzetti F, Carinci F, Martinelli M, Carinci P, Tognon M. 1997. Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate. Genomics 43:216-220. (Pubitemid 27335225)
    • (1997) Genomics , vol.43 , Issue.2 , pp. 216-220
    • Scapoli, L.1    Pezzetti, F.2    Carinci, F.3    Martinelli, M.4    Carinci, P.5    Tognon, M.6
  • 27
    • 0038315385 scopus 로고    scopus 로고
    • Confidence intervals for genotype relative risks and allele frequencies from the case parent trio design for candidate-gene studies
    • DOI 10.1159/000070666
    • Scherag A, Dempfle A, Hinney A, Hebebrand J, Schafer H. 2002. Confidence intervals for genotype relative risks and allele frequencies from the case parent trio design for candidate-gene studies. Hum Hered 54:210-217. (Pubitemid 36677050)
    • (2002) Human Heredity , vol.54 , Issue.4 , pp. 210-217
    • Scherag, A.1    Dempfle, A.2    Hinney, A.3    Hebebrand, J.4    Schafer, H.5
  • 28
    • 0036908801 scopus 로고    scopus 로고
    • Multiplex relative risk and estimation of the number of loci underlying an inherited disease
    • DOI 10.1086/344779
    • Schliekelman P, Slatkin M. 2002. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 71:1369-1385. (Pubitemid 36015891)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.6 , pp. 1369-1385
    • Schliekelman, P.1    Slatkin, M.2
  • 30
    • 0036149070 scopus 로고    scopus 로고
    • The 6p deletion syndrome: A new orofacial clefting syndrome and its implications for antenatal screening
    • Topping A, Harris P, Moss AL. 2002. The 6p deletion syndrome: a new orofacial clefting syndrome and its implications for antenatal screening. Br J Plast Surg 55:68-72.
    • (2002) Br J Plast Surg , vol.55 , pp. 68-72
    • Topping, A.1    Harris, P.2    Moss, A.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.