메뉴 건너뛰기




Volumn 55, Issue 6-7, 2012, Pages 389-393

Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature

Author keywords

Cleft lip only; Interferon regulatory factor 6 (IRF6); Mixed clefting; Non syndromic oral clefts; Van der Woude syndrome

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

EID: 84862194810     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.02.006     Document Type: Article
Times cited : (21)

References (30)
  • 1
    • 0036556368 scopus 로고    scopus 로고
    • Gene/environment causes of cleft lip and/or palate
    • Murray J.C. Gene/environment causes of cleft lip and/or palate. Clin. Genet. 2002, 61:248-256.
    • (2002) Clin. Genet. , vol.61 , pp. 248-256
    • Murray, J.C.1
  • 4
    • 19444374276 scopus 로고    scopus 로고
    • Orofacial clefting: recent insights into a complex trait
    • Jugessur A., Murray J.C. Orofacial clefting: recent insights into a complex trait. Curr. Opin. Genet. Dev. 2005, 15:270-278.
    • (2005) Curr. Opin. Genet. Dev. , vol.15 , pp. 270-278
    • Jugessur, A.1    Murray, J.C.2
  • 12
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S., Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol. Biol. 2000, 132:365-386.
    • (2000) Methods Mol. Biol. , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 13
    • 0002051540 scopus 로고    scopus 로고
    • BioEdit: a user-friendly biological sequence alignment editor and analysis program for windows 95/98/NT
    • Hall T.A. BioEdit: a user-friendly biological sequence alignment editor and analysis program for windows 95/98/NT. Nucleic Acids Symposium. Ser. 1999, 41:95-98.
    • (1999) Nucleic Acids Symposium. Ser. , vol.41 , pp. 95-98
    • Hall, T.A.1
  • 14
    • 80255130012 scopus 로고    scopus 로고
    • MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods
    • Tamura K., Peterson D., Peterson N., Stecher G., Nei M., Kumar S. MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods. Mol. Biol. Evol. 2011, 2011:4.
    • (2011) Mol. Biol. Evol. , vol.2011 , pp. 4
    • Tamura, K.1    Peterson, D.2    Peterson, N.3    Stecher, G.4    Nei, M.5    Kumar, S.6
  • 15
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • Smith P.J., Zhang C., Wang J., Chew S.L., Zhang M.Q., Krainer A.R. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum. Mol. Genet. 2006, 15:2490-2508.
    • (2006) Hum. Mol. Genet. , vol.15 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 16
    • 77954284248 scopus 로고    scopus 로고
    • SFmap: a web server for motif analysis and prediction of splicing factor binding sites
    • Paz I., Akerman M., Dror I., Kosti I., Mandel-Gutfreund Y. SFmap: a web server for motif analysis and prediction of splicing factor binding sites. Nucleic Acids Res. 2010, 38:W281-W285.
    • (2010) Nucleic Acids Res. , vol.38
    • Paz, I.1    Akerman, M.2    Dror, I.3    Kosti, I.4    Mandel-Gutfreund, Y.5
  • 17
    • 39149097519 scopus 로고    scopus 로고
    • Unraveling human cleft lip and palate research
    • Vieira A.R. Unraveling human cleft lip and palate research. J. Dent. Res. 2008, 87:119-125.
    • (2008) J. Dent. Res. , vol.87 , pp. 119-125
    • Vieira, A.R.1
  • 23
    • 82255192920 scopus 로고    scopus 로고
    • Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population
    • Salahshourifar I., Halim A., Wan Sulaiman W., Zilfalil B. Contribution of MSX1 variants to the risk of non-syndromic cleft lip and palate in a Malay population. J.Hum. Genet. 2011, 56:755-758.
    • (2011) J.Hum. Genet. , vol.56 , pp. 755-758
    • Salahshourifar, I.1    Halim, A.2    Wan Sulaiman, W.3    Zilfalil, B.4
  • 24
    • 80455124128 scopus 로고    scopus 로고
    • Efficient internal exon recognition depends on near equal contributions from the 3' and 5' splice sites
    • Shepard P.J., Choi E.A., Busch A., Hertel K.J. Efficient internal exon recognition depends on near equal contributions from the 3' and 5' splice sites. Nucleic Acids Res. 2011, 39:8928-8937.
    • (2011) Nucleic Acids Res. , vol.39 , pp. 8928-8937
    • Shepard, P.J.1    Choi, E.A.2    Busch, A.3    Hertel, K.J.4
  • 26
    • 41449115382 scopus 로고    scopus 로고
    • A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons
    • Ridout C.K., Keighley P., Krywawych S., Brown R.M., Brown G.K. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons. Hum. Mutat. 2008, 29:451.
    • (2008) Hum. Mutat. , vol.29 , pp. 451
    • Ridout, C.K.1    Keighley, P.2    Krywawych, S.3    Brown, R.M.4    Brown, G.K.5
  • 27
    • 80052260335 scopus 로고    scopus 로고
    • A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing
    • Covaciu C., Grosso F., Pisaneschi E., Zambruno G., Gregersen P.A., Sommerlund M., Hertz J.M., Castiglia D. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing. Br. J. Dermatol. 2011, 165:678-682.
    • (2011) Br. J. Dermatol. , vol.165 , pp. 678-682
    • Covaciu, C.1    Grosso, F.2    Pisaneschi, E.3    Zambruno, G.4    Gregersen, P.A.5    Sommerlund, M.6    Hertz, J.M.7    Castiglia, D.8
  • 30
    • 79960953175 scopus 로고    scopus 로고
    • Haddad, association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population
    • Larrabee Y.C., Birkeland A.C., Kent D.T., Flores C., Su G.H., Lee J.H., .Haddad J. Haddad, association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population. Laryngoscope 2011, 121:1756-1759.
    • (2011) Laryngoscope , vol.121 , pp. 1756-1759
    • Larrabee, Y.C.1    Birkeland, A.C.2    Kent, D.T.3    Flores, C.4    Su, G.H.5    Lee, J.H.6    .Haddad, J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.