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Volumn 2, Issue 3, 2014, Pages 254-260

Novel irf6 mutations in families with van der woude syndrome and popliteal pterygium syndrome from sub-saharan africa

Author keywords

IRF6; Popliteal pterygium syndrome; Sub Saharan Africa; Van der Woude syndrome

Indexed keywords


EID: 84973620959     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.66     Document Type: Article
Times cited : (24)

References (20)
  • 3
    • 84876793777 scopus 로고    scopus 로고
    • Replication of genome wide association identified candidate genes confirm the role of common and rare mutations in PAX7 and VAX1 in the etiology of nonsyndromic CL(P)
    • Butali, A., S. Suzuki, M. E. Cooper, A. M. Mansilla, K. Cuenco, E. J. Leslie, et al. 2013. Replication of genome wide association identified candidate genes confirm the role of common and rare mutations in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am. J. Med. Genet. A 161:965–972.
    • (2013) Am. J. Med. Genet. A , vol.161 , pp. 965-972
    • Butali, A.1    Suzuki, S.2    Cooper, M.E.3    Mansilla, A.M.4    Cuenco, K.5    Leslie, E.J.6
  • 4
    • 70349131331 scopus 로고    scopus 로고
    • Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
    • De Lima, R. L., S. A. Hoper, M. Ghassibe, M. E. Cooper, N. K. Rorick, S. Kondo, et al. 2009. Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet. Med. 11:241–247.
    • (2009) Genet. Med. , vol.11 , pp. 241-247
    • de Lima, R.L.1    Hoper, S.A.2    Ghassibe, M.3    Cooper, M.E.4    Rorick, N.K.5    Kondo, S.6
  • 5
    • 79851516211 scopus 로고    scopus 로고
    • IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: Identification of a new type of minor VWS sign
    • Desmyter, L., M. Ghassibe, N. Revencu, O. Boute, M. Lees, G. Francßois, et al. 2010. IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: identification of a new type of minor VWS sign. Mol. Syndromol. 1:67–74.
    • (2010) Mol. Syndromol. , vol.1 , pp. 67-74
    • Desmyter, L.1    Ghassibe, M.2    Revencu, N.3    Boute, O.4    Lees, M.5    Francßois, G.6
  • 6
    • 0025339958 scopus 로고
    • Popliteal pterygium syndrome
    • Froster-Iskenius, U. G. 1990. Popliteal pterygium syndrome. J. Med. Genet. 27:320–326.
    • (1990) J. Med. Genet. , vol.27 , pp. 320-326
    • Froster-Iskenius, U.G.1
  • 7
    • 17644442804 scopus 로고    scopus 로고
    • Six families with van der Woude and/or popliteal pterygium syndrome: All with a mutation in the IRF6 gene
    • Ghassibe, M., N. Revencu, B. Bayet, Y. Gillerot, R. Vanwijck, C. Verellen-Dumoulin, et al. 2004. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J. Med. Genet. 41:e15.
    • (2004) J. Med. Genet. , vol.41 , pp. e15
    • Ghassibe, M.1    Revencu, N.2    Bayet, B.3    Gillerot, Y.4    Vanwijck, R.5    Verellen-Dumoulin, C.6
  • 8
    • 23044494721 scopus 로고    scopus 로고
    • Van Der Woude syndrome: Variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family
    • Item, C. B., D. Turhani, D. Thurnher, K. Yerit, K. Sinko, G. Wittwer, et al. 2005. Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family. Int. J. Mol. Med. 2005(15):247–251.
    • (2005) Int. J. Mol. Med. , vol.2005 , Issue.15 , pp. 247-251
    • Item, C.B.1    Turhani, D.2    Thurnher, D.3    Yerit, K.4    Sinko, K.5    Wittwer, G.6
  • 10
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., S. Henikoff, and P. C. Ng. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4:1073–1081.
    • (2009) Nat. Protoc. , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 11
    • 77949408140 scopus 로고    scopus 로고
    • Van der Woude syndrome: Dentofacial features and implications for clinical practice
    • Lam, A. K., D. J. David, G. C. Townsend, and P. J. Anderson. 2010. Van der Woude syndrome: dentofacial features and implications for clinical practice. Aust. Dent. J. 55:51–58.
    • (2010) Aust. Dent. J. , vol.55 , pp. 51-58
    • Lam, A.K.1    David, D.J.2    Townsend, G.C.3    Anderson, P.J.4
  • 12
    • 84877281682 scopus 로고    scopus 로고
    • Comparative analysis of IRF6 mutationsin families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
    • Leslie, E. J., J. Standley, J. Compton, S. Bale, B. C. Schutte, and J. C. Murray. 2013. Comparative analysis of IRF6 mutationsin families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet. Med. 15:338–344.
    • (2013) Genet. Med. , vol.15 , pp. 338-344
    • Leslie, E.J.1    Standley, J.2    Compton, J.3    Bale, S.4    Schutte, B.C.5    Murray, J.C.6
  • 13
    • 84897375285 scopus 로고    scopus 로고
    • Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan
    • Malik, S., E. R. Wilcox, and S. Naz. 2013. Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan. Clin. Genet. doi:10.1111/cge.12207.
    • (2013) Clin. Genet.
    • Malik, S.1    Wilcox, E.R.2    Naz, S.3
  • 14
  • 16
    • 1642348828 scopus 로고    scopus 로고
    • Van der Woude syndrome: A review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counseling, and treatment
    • Rizos, M., and M. N. Spyropoulos. 2004. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counseling, and treatment. Eur. J. Orthod. 26:17–24.
    • (2004) Eur. J. Orthod. , vol.26 , pp. 17-24
    • Rizos, M.1    Spyropoulos, M.N.2
  • 17
    • 84862194810 scopus 로고    scopus 로고
    • Variant screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature
    • Salahshourifar, I., W. A. Wan Sulaiman, A. S. Halim, and B. A. Zilfalil. 2012. Variant screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: review of the literature. Eur. J. Med. Genet. 55:389–393.
    • (2012) Eur. J. Med. Genet. , vol.55 , pp. 389-393
    • Salahshourifar, I.1    Wan Sulaiman, W.A.2    Halim, A.S.3    Zilfalil, B.A.4
  • 18
    • 79952197510 scopus 로고    scopus 로고
    • Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome
    • Scioletti, A. P., F. Brancati, V. Gatta, I. Antonucci, B. Peissel, A. Pizzuti, et al. 2010. Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. J. Craniofac. Surg. 21:1654–1656.
    • (2010) J. Craniofac. Surg. , vol.21 , pp. 1654-1656
    • Scioletti, A.P.1    Brancati, F.2    Gatta, V.3    Antonucci, I.4    Peissel, B.5    Pizzuti, A.6
  • 19
    • 84881061786 scopus 로고    scopus 로고
    • De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
    • Tan, E. C., E. C. Lim, and S. T. Lee. 2013. De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus. Mol. Cytogenet. 6:31.
    • (2013) Mol. Cytogenet. , vol.6 , pp. 31
    • Tan, E.C.1    Lim, E.C.2    Lee, S.T.3
  • 20
    • 78049484011 scopus 로고    scopus 로고
    • Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces
    • Venselaar, H., T. A. Te Beek, R. K. Kuipers, M. L. Hekkelman, and G. Vriend. 2010. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics 11:548. doi:10.1186/1471-2105-11-548
    • (2010) BMC Bioinformatics , vol.11
    • Venselaar, H.1    Te Beek, T.A.2    Kuipers, R.K.3    Hekkelman, M.L.4    Vriend, G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.