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Volumn 433, Issue , 2014, Pages 195-199

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients

Author keywords

Frame shift mutations; GLI3 gene; Non syndromic polydactyly; Postaxial polydactyly

Indexed keywords

TRANSCRIPTION FACTOR GLI3; GLI3 PROTEIN, HUMAN; KRUPPEL LIKE FACTOR; NERVE PROTEIN;

EID: 84897567004     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2014.03.012     Document Type: Article
Times cited : (17)

References (23)
  • 3
    • 84892966683 scopus 로고    scopus 로고
    • Polydactyly: phenotypes, genetics and classification
    • Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet 2013, 10.1111/cge.12276.
    • (2013) Clin Genet
    • Malik, S.1
  • 4
    • 79955002013 scopus 로고    scopus 로고
    • Polydactyly: how many disorders and how many genes? 2010 update
    • Biesecker L.G. Polydactyly: how many disorders and how many genes? 2010 update. Dev Dyn 2011, 240:931-942.
    • (2011) Dev Dyn , vol.240 , pp. 931-942
    • Biesecker, L.G.1
  • 5
    • 84897398097 scopus 로고    scopus 로고
    • Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases
    • Malik S., Ullah S., Afzal M., Lal K., Haque S. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases. Clin Genet 2013, 10.1111/cge.12217.
    • (2013) Clin Genet
    • Malik, S.1    Ullah, S.2    Afzal, M.3    Lal, K.4    Haque, S.5
  • 6
    • 51549087539 scopus 로고    scopus 로고
    • Patterning mechanisms controlling digit development
    • Hu J., He L. Patterning mechanisms controlling digit development. J Genet Genomics 2008, 35:517-524.
    • (2008) J Genet Genomics , vol.35 , pp. 517-524
    • Hu, J.1    He, L.2
  • 7
    • 0025812172 scopus 로고
    • GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
    • Vortkamp A., Gessler M., Grzeschik K.H. GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families. Nature 1991, 352:539-540.
    • (1991) Nature , vol.352 , pp. 539-540
    • Vortkamp, A.1    Gessler, M.2    Grzeschik, K.H.3
  • 8
    • 0031019090 scopus 로고    scopus 로고
    • GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
    • Kang S., Graham J.M., Olney A.H., Biesecker L.G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nat Genet 1997, 15:266-268.
    • (1997) Nat Genet , vol.15 , pp. 266-268
    • Kang, S.1    Graham, J.M.2    Olney, A.H.3    Biesecker, L.G.4
  • 9
    • 0036850976 scopus 로고    scopus 로고
    • De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
    • Elson E., Perveen R., Donnai D., Wall S., Black G.C. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 2002, 39:804-806.
    • (2002) J Med Genet , vol.39 , pp. 804-806
    • Elson, E.1    Perveen, R.2    Donnai, D.3    Wall, S.4    Black, G.C.5
  • 11
    • 0033362154 scopus 로고    scopus 로고
    • The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations
    • Radhakrishna U., Bornholdt D., Scott H.S., et al. The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. Am J Hum Genet 1999, 65:645-655.
    • (1999) Am J Hum Genet , vol.65 , pp. 645-655
    • Radhakrishna, U.1    Bornholdt, D.2    Scott, H.S.3
  • 12
    • 79251474031 scopus 로고    scopus 로고
    • Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
    • Johnston J.J., Sapp J.C., Turner J.T., et al. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat 2010, 31:1142-1154.
    • (2010) Hum Mutat , vol.31 , pp. 1142-1154
    • Johnston, J.J.1    Sapp, J.C.2    Turner, J.T.3
  • 13
    • 17644407688 scopus 로고    scopus 로고
    • Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I
    • Fujioka H., Ariga T., Horiuchi K., et al. Molecular analysis of non-syndromic preaxial polydactyly: preaxial polydactyly type-IV and preaxial polydactyly type-I. Clin Genet 2005, 67:429-433.
    • (2005) Clin Genet , vol.67 , pp. 429-433
    • Fujioka, H.1    Ariga, T.2    Horiuchi, K.3
  • 15
    • 33746890839 scopus 로고    scopus 로고
    • Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree
    • Cheng B., Dong Y., He L., et al. Crossed polydactyly type I caused by a point mutation in the GLI3 gene in a large Chinese pedigree. J Clin Lab Anal 2006, 20:133-138.
    • (2006) J Clin Lab Anal , vol.20 , pp. 133-138
    • Cheng, B.1    Dong, Y.2    He, L.3
  • 16
    • 79955003000 scopus 로고    scopus 로고
    • A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family
    • Cheng F., Ke X., Lv M., et al. A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family. Clin Chim Acta 2011, 412:1012-1017.
    • (2011) Clin Chim Acta , vol.412 , pp. 1012-1017
    • Cheng, F.1    Ke, X.2    Lv, M.3
  • 17
    • 84867660392 scopus 로고    scopus 로고
    • A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet
    • Al-Qattan M.M. A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet. Clin Genet 2012, 82:502-504.
    • (2012) Clin Genet , vol.82 , pp. 502-504
    • Al-Qattan, M.M.1
  • 20
    • 84878367751 scopus 로고    scopus 로고
    • New classification of polydactyly of the foot on the basis of syndactylism, axis deviation, and metatarsal extent of extra digit
    • Seok H.H., Park J.U., Kwon S.T. New classification of polydactyly of the foot on the basis of syndactylism, axis deviation, and metatarsal extent of extra digit. Arch Plast Surg 2013, 40:232-237.
    • (2013) Arch Plast Surg , vol.40 , pp. 232-237
    • Seok, H.H.1    Park, J.U.2    Kwon, S.T.3
  • 21
    • 0031032215 scopus 로고    scopus 로고
    • Postaxial type-B polydactyly. Prevalence and treatment
    • Watson B.T., Hennrikus W.L. Postaxial type-B polydactyly. Prevalence and treatment. J Bone Joint Surg Am 1997, 79:65-68.
    • (1997) J Bone Joint Surg Am , vol.79 , pp. 65-68
    • Watson, B.T.1    Hennrikus, W.L.2
  • 22
    • 84881102803 scopus 로고    scopus 로고
    • Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype
    • Sethi S.K., Goyal D., Khalil S., Yadav D.K. Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype. Eur J Pediatr 2013, 172:1131-1135.
    • (2013) Eur J Pediatr , vol.172 , pp. 1131-1135
    • Sethi, S.K.1    Goyal, D.2    Khalil, S.3    Yadav, D.K.4
  • 23
    • 20144387269 scopus 로고    scopus 로고
    • Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    • Johnston J.J., Olivos-Glander I., Killoran C., et al. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet 2005, 76:609-622.
    • (2005) Am J Hum Genet , vol.76 , pp. 609-622
    • Johnston, J.J.1    Olivos-Glander, I.2    Killoran, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.