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Volumn 117, Issue 2-3, 2005, Pages 238-242

Lymphoedema-distichiasis and FOXC2: Unreported mutations, de novo mutation estimate, families without coding mutations

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC2; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; FORKHEAD TRANSCRIPTION FACTOR;

EID: 24944446156     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1275-2     Document Type: Article
Times cited : (39)

References (19)
  • 5
    • 0036387193 scopus 로고    scopus 로고
    • Forkhead transcription factors: Key players in development and metabolism
    • Carlsson P, Mahlapuu M (2002) Forkhead transcription factors: Key players in development and metabolism. Dev Biol 250:1-23
    • (2002) Dev Biol , vol.250 , pp. 1-23
    • Carlsson, P.1    Mahlapuu, M.2
  • 6
    • 0022416702 scopus 로고
    • The inheritance of primary lymphoedema
    • Dale RF (1985) The inheritance of primary lymphoedema. J Med Genet 22:274-278
    • (1985) J Med Genet , vol.22 , pp. 274-278
    • Dale, R.F.1
  • 8
    • 0033646615 scopus 로고    scopus 로고
    • Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome
    • Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW (2000) Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 67:1382-1388
    • (2000) Am J Hum Genet , vol.67 , pp. 1382-1388
    • Fang, J.1    Dagenais, S.L.2    Erickson, R.P.3    Arlt, M.F.4    Glynn, M.W.5    Gorski, J.L.6    Seaver, L.H.7    Glover, T.W.8
  • 11
    • 0033862310 scopus 로고    scopus 로고
    • Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase
    • Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M (2000) Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet 67:295-301
    • (2000) Am J Hum Genet , vol.67 , pp. 295-301
    • Irrthum, A.1    Karkkainen, M.J.2    Devriendt, K.3    Alitalo, K.4    Vikkula, M.5
  • 12
    • 0242684701 scopus 로고    scopus 로고
    • Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians
    • Kovacs P, Lehn-Stefan A, Stumvoll M, Bogardus C, Baier LJ (2003) Genetic variation in the human winged helix/forkhead transcription factor gene FOXC2 in Pima Indians. Diabetes 52:1292-1295
    • (2003) Diabetes , vol.52 , pp. 1292-1295
    • Kovacs, P.1    Lehn-Stefan, A.2    Stumvoll, M.3    Bogardus, C.4    Baier, L.J.5
  • 14
    • 0029556256 scopus 로고
    • Managing lymphoedema
    • Mortimer PS (1995) Managing lymphoedema. Clin Dermatol 12:499-505
    • (1995) Clin Dermatol , vol.12 , pp. 499-505
    • Mortimer, P.S.1
  • 16
    • 0014768173 scopus 로고
    • Distichiasis-lymphedema: A hereditary syndrome of multiple congenital defects
    • Robinow M, Johnson GF, Verhagen AD (1970) Distichiasis-lymphedema: A hereditary syndrome of multiple congenital defects. Am Dis Child 119:343-347
    • (1970) Am Dis Child , vol.119 , pp. 343-347
    • Robinow, M.1    Johnson, G.F.2    Verhagen, A.D.3
  • 17
    • 0344443182 scopus 로고    scopus 로고
    • Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1
    • Saleem RA, Banerjee-Basu S, Berry FB, Baxevanis AD, Walter MA (2003) Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1. Hum Mol Genet 12:2993-3005
    • (2003) Hum Mol Genet , vol.12 , pp. 2993-3005
    • Saleem, R.A.1    Banerjee-Basu, S.2    Berry, F.B.3    Baxevanis, A.D.4    Walter, M.A.5
  • 19
    • 20744434665 scopus 로고    scopus 로고
    • A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus
    • Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E (2004) A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. Am J Med Genet 131A:281-286
    • (2004) Am J Med Genet , vol.131 A , pp. 281-286
    • Yildirim-Toruner, C.1    Subramanian, K.2    El Manjra, L.3    Chen, E.4    Goldstein, S.5    Vitale, E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.