메뉴 건너뛰기




Volumn 4, Issue 2, 2011, Pages 237-241

Novel IRF6 mutations in Honduran Van der Woude syndrome patients

Author keywords

Honduras; IRF6; Novel mutations; Van der Woude syndrome

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

EID: 79551697609     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2011.423     Document Type: Article
Times cited : (12)

References (19)
  • 2
    • 84920239533 scopus 로고
    • Fistula labii inferioris congenital and its association with cleft lip and palate
    • Van der Woude A: Fistula labii inferioris congenital and its association with cleft lip and palate. Am J Hum Genet 6: 254-266, 1954.
    • (1954) Am J Hum Genet , vol.6 , pp. 254-266
    • Van Der Woude, A.1
  • 3
    • 0014248101 scopus 로고
    • Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies
    • Gorlin RJ, Sedano HO and Cervenka J: Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics 41: 503-509, 1968.
    • (1968) Pediatrics , vol.41 , pp. 503-509
    • Gorlin, R.J.1    Sedano, H.O.2    Cervenka, J.3
  • 5
    • 18644374446 scopus 로고    scopus 로고
    • Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
    • Kondo S, Schutte BC, Richardson RJ, et al: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32: 285-289, 2002.
    • (2002) Nat Genet , vol.32 , pp. 285-289
    • Kondo, S.1    Schutte, B.C.2    Richardson, R.J.3
  • 6
    • 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 RL, Hoper SA, Ghassibe M, et al: 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.
    • (2009) Genet Med , vol.11 , pp. 241-247
    • De Lima, R.L.1    Hoper, S.A.2    Ghassibe, M.3
  • 8
    • 4143115809 scopus 로고    scopus 로고
    • Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
    • Zucchero TM, Cooper ME, Maher BS, et al: Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351: 769-780, 2004.
    • (2004) N Engl J Med , vol.351 , pp. 769-780
    • Zucchero, T.M.1    Cooper, M.E.2    Maher, B.S.3
  • 9
    • 70349607124 scopus 로고    scopus 로고
    • The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population
    • Diercks GR, Karnezis TT, Kent DT, Flores C, Su GH, Lee JH and Haddad J Jr: The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. Laryngoscope 119: 1759-1764, 2009.
    • (2009) Laryngoscope , vol.119 , pp. 1759-1764
    • Diercks, G.R.1    Karnezis, T.T.2    Kent, D.T.3    Flores, C.4    Su, G.H.5    Lee, J.H.6    Haddad Jr., J.7
  • 10
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN and Youssoufian H: the CpG dinucleotide and human genetic disease. Hum Genet 78: 151-155, 1988.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 11
    • 33750452339 scopus 로고    scopus 로고
    • Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (IRF6)
    • Ingraham CR, Kinoshita A, Kondo S et al: Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (IRF6). Nat Genet 38: 1335-1340, 2006.
    • (2006) Nat Genet , vol.38 , pp. 1335-1340
    • Ingraham, C.R.1    Kinoshita, A.2    Kondo, S.3
  • 12
    • 33750441851 scopus 로고    scopus 로고
    • IRF6 is a key determinant of the keratinocyte proliferation- differentiation switch
    • Richardson RJ, Dixon J, Malhotra S, et al: IRF6 is a key determinant of the keratinocyte proliferation-differentiation switch. Nat Genet 38: 1329-1334, 2006.
    • (2006) Nat Genet , vol.38 , pp. 1329-1334
    • Richardson, R.J.1    Dixon, J.2    Malhotra, S.3
  • 13
    • 77951849894 scopus 로고    scopus 로고
    • Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice
    • Thomason HA, Zhou H, Kouwenhoven EN, et al: Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest 120: 1561-1569, 2010.
    • (2010) J Clin Invest , vol.120 , pp. 1561-1569
    • Thomason, H.A.1    Zhou, H.2    Kouwenhoven, E.N.3
  • 14
    • 55049105999 scopus 로고    scopus 로고
    • Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
    • Rahimov, F, Marazita ML, Visel A, et al: Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip. Nat Genet 40: 1341-1347, 2008.
    • (2008) Nat Genet , vol.40 , pp. 1341-1347
    • Rahimov, F.1    Marazita, M.L.2    Visel, A.3
  • 15
    • 0035253507 scopus 로고    scopus 로고
    • Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
    • McGrath JA, Duijf PH, Doetsech V, et al: Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 10: 221-229, 2001.
    • (2001) Hum Mol Genet , vol.10 , pp. 221-229
    • McGrath, J.A.1    Duijf, P.H.2    Doetsech, V.3
  • 16
    • 42749083170 scopus 로고    scopus 로고
    • TFAP2A mutations result in Branchio-oculo-facial syndrome
    • Milunsky JM, Maher TA, Zhao G, et al: TFAP2A mutations result in Branchio-oculo-facial syndrome. Am J Hum Genet 82: 1171-1177, 2008.
    • (2008) Am J Hum Genet , vol.82 , pp. 1171-1177
    • Milunsky, J.M.1    Maher, T.A.2    Zhao, G.3
  • 17
    • 69949159209 scopus 로고    scopus 로고
    • Coding region of IRF6 may not be causal for Van der Woude syndrome in cases from India
    • Ali A, Singh SK and Raman R: Coding region of IRF6 may not be causal for Van der Woude syndrome in cases from India. Cleft Palate Craniofac J 46: 541-544, 2009.
    • (2009) Cleft Palate Craniofac J , vol.46 , pp. 541-544
    • Ali, A.1    Singh, S.K.2    Raman, R.3
  • 18
    • 0034751356 scopus 로고    scopus 로고
    • Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34
    • Kollinen H, Wong FK, Rautio J, et al: Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. Eur J Hum Genet 9: 747-752, 2001.
    • (2001) Eur J Hum Genet , vol.9 , pp. 747-752
    • Kollinen, H.1    Wong, F.K.2    Rautio, J.3
  • 19
    • 0033365195 scopus 로고    scopus 로고
    • Linkage analysis in a large Brazilian family with Van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11
    • Sertie AL, Sousa AV, Steman S, Pavanello RC and Passos-Bueno R: Linkage analysis in a large Brazilian family with Van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11. Am J Hum Genet 65: 433-440, 1999.
    • (1999) Am J Hum Genet , vol.65 , pp. 433-440
    • Sertie, A.L.1    Sousa, A.V.2    Steman, S.3    Pavanello, R.C.4    Passos-Bueno, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.