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Volumn 136, Issue 3, 2017, Pages 275-286

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate

(20)  Leslie, Elizabeth J a   Carlson, Jenna C b   Shaffer, John R b   Butali, Azeez c   Buxó, Carmen J d   Castilla, Eduardo E e,f,g   Christensen, Kaare h   Deleyiannis, Fred W B i   Leigh Field, L j   Hecht, Jacqueline T k   Moreno, Lina c   Orioli, Ieda M f,l   Padilla, Carmencita m   Vieira, Alexandre R a,b   Wehby, George L n   Feingold, Eleanor a,b   Weinberg, Seth M a   Murray, Jeffrey C o   Beaty, Terri H p   Marazita, Mary L a,b,q  


Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXE1; TUMOR PROTEIN 63; UNCLASSIFIED DRUG; FORKHEAD TRANSCRIPTION FACTOR; FOXE1 PROTEIN, HUMAN; TP63 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

EID: 85008182706     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-016-1754-7     Document Type: Article
Times cited : (125)

References (49)
  • 2
    • 84941049547 scopus 로고    scopus 로고
    • A composite enhancer regulates p63 gene expression in epidermal morphogenesis and in keratinocyte differentiation by multiple mechanisms
    • COI: 1:CAS:528:DC%2BC2MXjtlCjtLo%3D, PID: 25567987
    • Antonini D, Sirico A, Aberdam E, Ambrosio R, Campanile C, Fagoonee S, Altruda F, Aberdam D, Brissette JL, Missero C (2015) A composite enhancer regulates p63 gene expression in epidermal morphogenesis and in keratinocyte differentiation by multiple mechanisms. Nucl Acids Res 43:862–874. doi:10.1093/nar/gku1396
    • (2015) Nucl Acids Res , vol.43 , pp. 862-874
    • Antonini, D.1    Sirico, A.2    Aberdam, E.3    Ambrosio, R.4    Campanile, C.5    Fagoonee, S.6    Altruda, F.7    Aberdam, D.8    Brissette, J.L.9    Missero, C.10
  • 13
    • 67849130563 scopus 로고    scopus 로고
    • ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
    • COI: 1:CAS:528:DC%2BD1MXosFSrs7g%3D, PID: 19465376
    • Chen J, Bardes EE, Aronow BJ, Jegga AG (2009) ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucl Acids Res 37:W305–W311. doi:10.1093/nar/gkp427
    • (2009) Nucl Acids Res , vol.37 , pp. W305-W311
    • Chen, J.1    Bardes, E.E.2    Aronow, B.J.3    Jegga, A.G.4
  • 14
    • 84879788031 scopus 로고    scopus 로고
    • Neural tube defects—disorders of neurulation and related embryonic processes
    • COI: 1:CAS:528:DC%2BC3sXislSgt78%3D, PID: 24009034
    • Copp AJ, Greene ND (2013) Neural tube defects—disorders of neurulation and related embryonic processes. Wiley Interdiscip Rev Dev Biol 2:213–227. doi:10.1002/wdev.71
    • (2013) Wiley Interdiscip Rev Dev Biol , vol.2 , pp. 213-227
    • Copp, A.J.1    Greene, N.D.2
  • 17
    • 79951800135 scopus 로고    scopus 로고
    • Cleft lip and palate: understanding genetic and environmental influences
    • COI: 1:CAS:528:DC%2BC3MXitVOgsr4%3D, PID: 21331089
    • Dixon MJ, Marazita ML, Beaty TH, Murray JC (2011) Cleft lip and palate: understanding genetic and environmental influences. Nat Rev Genet 12:167–178. doi:10.1038/nrg2933
    • (2011) Nat Rev Genet , vol.12 , pp. 167-178
    • Dixon, M.J.1    Marazita, M.L.2    Beaty, T.H.3    Murray, J.C.4
  • 18
    • 85004099919 scopus 로고    scopus 로고
    • FORGE: a tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions
    • Dunham I, Kulesha E, Iotchkova V, Morganella S, Birney E (2014) FORGE: a tool to discover cell specific enrichments of GWAS associated SNPs in regulatory regions. BioRxiv. doi:10.1101/013045
    • (2014) BioRxiv
    • Dunham, I.1    Kulesha, E.2    Iotchkova, V.3    Morganella, S.4    Birney, E.5
  • 20
    • 0033926317 scopus 로고    scopus 로고
    • Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27
    • COI: 1:CAS:528:DC%2BD3cXntVyksrs%3D, PID: 10839977
    • Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P (2000) Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet 67:59–66. doi:10.1086/302972
    • (2000) Am J Hum Genet , vol.67 , pp. 59-66
    • Ianakiev, P.1    Kilpatrick, M.W.2    Toudjarska, I.3    Basel, D.4    Beighton, P.5    Tsipouras, P.6
  • 22
    • 33744919790 scopus 로고    scopus 로고
    • Development of the upper lip: morphogenetic and molecular mechanisms
    • COI: 1:CAS:528:DC%2BD28XlvVygt7s%3D, PID: 16292776
    • Jiang R, Bush JO, Lidral AC (2006) Development of the upper lip: morphogenetic and molecular mechanisms. Dev Dyn 235:1152–1166. doi:10.1002/dvdy.20646
    • (2006) Dev Dyn , vol.235 , pp. 1152-1166
    • Jiang, R.1    Bush, J.O.2    Lidral, A.C.3
  • 23
    • 0037493688 scopus 로고    scopus 로고
    • Heterozygous mutation in the SAM domain of p63 underlies Rapp and Hodgkin ectodermal dysplasia
    • COI: 1:CAS:528:DC%2BD3sXksl2lt7s%3D, PID: 12766194
    • Kantaputra PN, Hamada T, Kumchai T, McGrath JA (2003) Heterozygous mutation in the SAM domain of p63 underlies Rapp and Hodgkin ectodermal dysplasia. J Dent Res 82:433–437
    • (2003) J Dent Res , vol.82 , pp. 433-437
    • Kantaputra, P.N.1    Hamada, T.2    Kumchai, T.3    McGrath, J.A.4
  • 25
    • 34447253042 scopus 로고    scopus 로고
    • Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects
    • COI: 1:CAS:528:DC%2BD2sXosFyqu78%3D, PID: 17377962
    • Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, Gahl WA, Shotelersuk V (2007) Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28:732–738. doi:10.1002/humu.20515
    • (2007) Hum Mutat , vol.28 , pp. 732-738
    • Leoyklang, P.1    Suphapeetiporn, K.2    Siriwan, P.3    Desudchit, T.4    Chaowanapanja, P.5    Gahl, W.A.6    Shotelersuk, V.7
  • 26
    • 84886278856 scopus 로고    scopus 로고
    • Genetics of cleft lip and cleft palate
    • PID: 24124047
    • Leslie EJ, Marazita ML (2013) Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet 163C:246–258. doi:10.1002/ajmg.c.31381
    • (2013) Am J Med Genet C Semin Med Genet , vol.163C , pp. 246-258
    • Leslie, E.J.1    Marazita, M.L.2
  • 27
    • 84869449975 scopus 로고    scopus 로고
    • Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22
    • COI: 1:CAS:528:DC%2BC38XhtlyqsLvP
    • Leslie EJ, Mansilla MA, Biggs LC, Schuette K, Bullard S, Cooper M, Dunnwald M, Lidral AC, Marazita ML, Beaty TH, Murray JC (2012) Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. Birth Defects Res A 94:934–942. doi:10.1002/bdra.23076
    • (2012) Birth Defects Res A , vol.94 , pp. 934-942
    • Leslie, E.J.1    Mansilla, M.A.2    Biggs, L.C.3    Schuette, K.4    Bullard, S.5    Cooper, M.6    Dunnwald, M.7    Lidral, A.C.8    Marazita, M.L.9    Beaty, T.H.10    Murray, J.C.11
  • 31
    • 84936804773 scopus 로고    scopus 로고
    • A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1
    • COI: 1:CAS:528:DC%2BC2MXhsVyltbbK, PID: 25652407
    • Lidral AC, Liu H, Bullard SA, Bonde G, Machida J, Visel A, Uribe LM, Li X, Amendt B, Cornell RA (2015) A single nucleotide polymorphism associated with isolated cleft lip and palate, thyroid cancer and hypothyroidism alters the activity of an oral epithelium and thyroid enhancer near FOXE1. Hum Mol Genet 24:3895–3907. doi:10.1093/hmg/ddv047
    • (2015) Hum Mol Genet , vol.24 , pp. 3895-3907
    • Lidral, A.C.1    Liu, H.2    Bullard, S.A.3    Bonde, G.4    Machida, J.5    Visel, A.6    Uribe, L.M.7    Li, X.8    Amendt, B.9    Cornell, R.A.10
  • 40
    • 0242670655 scopus 로고    scopus 로고
    • Epidemiology of oral clefts: an international perspective
    • Wyszynski DF, (ed), Oxford University Press, Oxford
    • Mossey PA, Little J (2002) Epidemiology of oral clefts: an international perspective. In: Wyszynski DF (ed) Cleft lip and palate: from origin to treatment. Oxford University Press, Oxford, pp 127–158
    • (2002) Cleft lip and palate: from origin to treatment , pp. 127-158
    • Mossey, P.A.1    Little, J.2
  • 45
    • 80755144006 scopus 로고    scopus 로고
    • Tfap2a and Foxd3 regulate early steps in the development of the neural crest progenitor population
    • COI: 1:CAS:528:DC%2BC3MXhsVOisrrK, PID: 21963426
    • Wang WD, Melville DB, Montero-Balaguer M, Hatzopoulos AK, Knapik EW (2011) Tfap2a and Foxd3 regulate early steps in the development of the neural crest progenitor population. Dev Biol 360:173–185. doi:10.1016/j.ydbio.2011.09.019
    • (2011) Dev Biol , vol.360 , pp. 173-185
    • Wang, W.D.1    Melville, D.B.2    Montero-Balaguer, M.3    Hatzopoulos, A.K.4    Knapik, E.W.5
  • 46
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • COI: 1:CAS:528:DC%2BC3MXhs12hurzP, PID: 22064851
    • Ward LD, Kellis M (2012) HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucl Acids Res 40:D930–D934. doi:10.1093/nar/gkr917
    • (2012) Nucl Acids Res , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 47
    • 84976873328 scopus 로고    scopus 로고
    • HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease
    • PID: 26657631
    • Ward LD, Kellis M (2016) HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Nucl Acids Res 44:D877–D881. doi:10.1093/nar/gkv1340
    • (2016) Nucl Acids Res , vol.44 , pp. D877-D881
    • Ward, L.D.1    Kellis, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.