메뉴 건너뛰기




Volumn 45, Issue 1, 2012, Pages 3-12

Clinical and genetic study of 46 Italian patients with primary lymphedema

Author keywords

Distichiasis; FLT4 alias VEGFR3; Forkhead domain; FOXC2; Genotype phenotype relationship; Primary lymphedema

Indexed keywords

FMS RELATED TYROSINE KINASE 4; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR FOXC2; UNCLASSIFIED DRUG; FORKHEAD TRANSCRIPTION FACTOR; VASCULOTROPIN RECEPTOR 3;

EID: 84864099825     PISSN: 00247766     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (25)

References (32)
  • 2
    • 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, LD Susan, RP Erickson, et al: Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am. J. Hum. Genet. 67 (2000), 1382-1388.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 1382-1388
    • Fang, J.1    Susan, L.D.2    Erickson, R.P.3
  • 3
    • 0035254739 scopus 로고    scopus 로고
    • Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families
    • DOI 10.1002/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9
    • Holberg, CJ, RP Erickson, MJ Bernas, et al: Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families. Am. J. Med. Genet. 98 (2001), 303-312. (Pubitemid 32126007)
    • (2001) American Journal of Medical Genetics , vol.98 , Issue.4 , pp. 303-312
    • Holberg, C.J.1    Erickson, R.P.2    Bernas, M.J.3    Witte, M.H.4    Fultz, K.E.5    Andrade, M.6    Witte, C.L.7
  • 5
    • 0032907687 scopus 로고    scopus 로고
    • Vascular endothelial growth factor (VEGF) and its receptors
    • Neufeld, G, T Cohen, S Gengrinovitch, et al: Vascular endothelial growth factor (VEGF) and its receptors. FASEB. J. 13 (1999), 9-22. (Pubitemid 29038270)
    • (1999) FASEB Journal , vol.13 , Issue.1 , pp. 9-22
    • Neufeld, G.1    Cohen, T.2    Gengrinovitch, S.3    Poltorak, Z.4
  • 7
    • 0036884119 scopus 로고    scopus 로고
    • Therapeutic lymphangiogenesis with human recombinant VEGF-C
    • Szuba, A, M Skobe, MJ Karkkainen, et al: Therapeutic lymphangiogenesis with human recombinant VEGF-C. FASEB J. 16 (2002), 1985-1987.
    • (2002) FASEB J. , vol.16 , pp. 1985-1987
    • Szuba, A.1    Skobe, M.2    Karkkainen, M.J.3
  • 11
    • 77953120512 scopus 로고    scopus 로고
    • GJC2 missense mutations cause human lymphedema
    • Ferrell, RE, CJ Baty, MA Kimak, et al: GJC2 missense mutations cause human lymphedema. Am. J. Hum. Genet. 86 (2010), 943-948.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 943-948
    • Ferrell, R.E.1    Baty, C.J.2    Kimak, M.A.3
  • 13
    • 80053385569 scopus 로고    scopus 로고
    • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    • Ostergaard, P, MA Simpson, FC Connell, et al: Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat. Genet. 43 (2011), 929-931.
    • (2011) Nat. Genet. , vol.43 , pp. 929-931
    • Ostergaard, P.1    Simpson, M.A.2    Connell, F.C.3
  • 14
    • 70649091987 scopus 로고    scopus 로고
    • Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
    • Alders, M, BM Hogan, E Gjini, et al: Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat. Genet. 41 (2009), 1272-1274.
    • (2009) Nat. Genet. , vol.41 , pp. 1272-1274
    • Alders, M.1    Hogan, B.M.2    Gjini, E.3
  • 15
    • 58049108899 scopus 로고    scopus 로고
    • Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas
    • Connell, FC, P Ostergaard, C Carver, et al: Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas. Hum. Genet. 124 (2009), 625-631.
    • (2009) Hum. Genet. , vol.124 , pp. 625-631
    • Connell, F.C.1    Ostergaard, P.2    Carver, C.3
  • 21
    • 77952167573 scopus 로고    scopus 로고
    • A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation
    • Fabretto, A, A Shardlow, F Faletra, et al: A case of lymphedema- distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet. 31 (2010), 98-100.
    • (2010) Ophthalmic Genet. , vol.31 , pp. 98-100
    • Fabretto, A.1    Shardlow, A.2    Faletra, F.3
  • 23
    • 71749099238 scopus 로고    scopus 로고
    • Novel missense mutations in the FOXC2 gene alter transcriptional activity
    • van Steensel, MA, RJ Damstra, MV Heitink, et al: Novel missense mutations in the FOXC2 gene alter transcriptional activity. Hum. Mutat. 30 (2009), 1002-1009.
    • (2009) Hum. Mutat. , vol.30 , pp. 1002-1009
    • Van Steensel, M.A.1    Damstra, R.J.2    Heitink, M.V.3
  • 24
    • 69249205645 scopus 로고    scopus 로고
    • 2009 Consensus Document of the International Society of Lymphology: The diagnosis and treatment of peripheral lymphedema
    • International Society of Lymphology
    • International Society of Lymphology: 2009 Consensus Document of the International Society of Lymphology: the diagnosis and treatment of peripheral lymphedema. Lymphology 42 (2009), 51-60.
    • (2009) Lymphology , vol.42 , pp. 51-60
  • 25
    • 0346364657 scopus 로고    scopus 로고
    • Amino acid properties and consequences of substitutions
    • Barnes, MR, IC Gray (Eds.), Wiley
    • Betts, MJ, RB Russell: Amino acid properties and consequences of substitutions. In: Bioinformatics for Geneticists. Barnes, MR, IC Gray (Eds.), Wiley, 2003.
    • (2003) Bioinformatics for Geneticists
    • Betts, M.J.1    Russell, R.B.2
  • 26
    • 24944586504 scopus 로고    scopus 로고
    • The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
    • DOI 10.1093/hmg/ddi295
    • Berry, FB, Y Tamimi, MV Carle, et al: The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis. Hum. Mol. Genet. 14 (2005), 2619-2627. (Pubitemid 41300636)
    • (2005) Human Molecular Genetics , vol.14 , Issue.18 , pp. 2619-2627
    • Berry, F.B.1    Tamimi, Y.2    Carle, M.V.3    Lehmann, O.J.4    Walter, M.A.5
  • 28
    • 33748325955 scopus 로고    scopus 로고
    • Hereditary lymphedema type I associated with VEGFR3 mutation: The first de novo case and atypical presentations
    • DOI 10.1111/j.1399-0004.2006.00687.x
    • Ghalamkarpour, A, S Morlot, A Raas-Rothschild, et al: Hereditary lymphedema type I associated with VEGFR3 mutation: The first de novo case and atypical presentations. Clin. Genet. 70 (2006), 330-335. (Pubitemid 44323399)
    • (2006) Clinical Genetics , vol.70 , Issue.4 , pp. 330-335
    • Ghalamkarpour, A.1    Morlot, S.2    Raas-Rothschild, A.3    Utkus, A.4    Mulliken, J.B.5    Boon, L.M.6    Vikkula, M.7
  • 29
    • 0026699255 scopus 로고
    • FLT4 receptor tyrosine kinase contains seven immunoglobulin-like loops and is expressed in multiple human tissues and cell lines
    • Pajusola, K, O Aprelikova, J Korhonen, et al: FLT4 receptor tyrosine kinase contains seven immunoglobulin-like loops and is expressed in multiple human tissues and cell lines. Cancer Res. 52 (1992), 5738-5743.
    • (1992) Cancer Res. , vol.52 , pp. 5738-5743
    • Pajusola, K.1    Aprelikova, O.2    Korhonen, J.3
  • 31
    • 33749046532 scopus 로고    scopus 로고
    • Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3
    • Spiegel, R, A Ghalamkarpour, E Daniel-Spiegel, et al: Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3. J. Hum. Genet. 51 (2006), 846-850.
    • (2006) J. Hum. Genet. , vol.51 , pp. 846-850
    • Spiegel, R.1    Ghalamkarpour, A.2    Daniel-Spiegel, E.3
  • 32
    • 33846161994 scopus 로고    scopus 로고
    • An experimental model for the study of lymphedema and its response to therapeutic lymphangiogenesis
    • Cheung, L, J Han, A Beilhack, et al: An experimental model for the study of lymphedema and its response to therapeutic lymphangiogenesis. BioDrugs. 20 (2006), 363-370. (Pubitemid 46089663)
    • (2006) BioDrugs , vol.20 , Issue.6 , pp. 363-370
    • Cheung, L.1    Han, J.2    Beilhack, A.3    Joshi, S.4    Wilburn, P.5    Dua, A.6    An, D.7    Rockson, S.G.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.