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Volumn , Issue , 2015, Pages 19-31

Genetic causes of lymphedema

Author keywords

Counseling; Diagnostics; Gene; Genetic; Genotype phenotype correlation; Lymphedema; Mutation; Pathophysiology; Sequencing; Symptoms

Indexed keywords


EID: 84944196171     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-319-14493-1_3     Document Type: Chapter
Times cited : (6)

References (29)
  • 2
    • 84871611836 scopus 로고    scopus 로고
    • FLT4/VEGFR3 and Milroy disease: Novel mutations, a review of published variants and database update
    • Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, et al. FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update. Hum Mutat. 2013;34(1):23–31.
    • (2013) Hum Mutat , vol.34 , Issue.1 , pp. 23-31
    • Gordon, K.1    Spiden, S.L.2    Connell, F.C.3    Brice, G.4    Cottrell, S.5    Short, J.6
  • 3
    • 77953070816 scopus 로고    scopus 로고
    • A new classification system for primary lymphatic dysplasias based on phenotype
    • Connell F, Brice G, Jeffery S, Keeley V, Mortimer P, Mansour S. A new classification system for primary lymphatic dysplasias based on phenotype. Clin Genet. 2010;77(5):438–52.
    • (2010) Clin Genet , vol.77 , Issue.5 , pp. 438-452
    • Connell, F.1    Brice, G.2    Jeffery, S.3    Keeley, V.4    Mortimer, P.5    Mansour, S.6
  • 6
    • 84883751811 scopus 로고    scopus 로고
    • A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family
    • Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S. A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family. Clin Genet. 2013;84(4):378–81.
    • (2013) Clin Genet , vol.84 , Issue.4 , pp. 378-381
    • Brice, G.1    Ostergaard, P.2    Jeffery, S.3    Gordon, K.4    Mortimer, P.S.5    Mansour, S.6
  • 7
    • 84907424460 scopus 로고    scopus 로고
    • Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Malder gem syndrome
    • Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Malder gem syndrome. Hum Genet. 2014;133(9):1161–7.
    • (2014) Hum Genet , vol.133 , Issue.9 , pp. 1161-1167
    • Alders, M.1    Al-Gazali, L.2    Cordeiro, I.3    Dallapiccola, B.4    Garavelli, L.5    Tuysuz, B.6
  • 8
    • 84894095710 scopus 로고    scopus 로고
    • GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity
    • Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21.
    • (2014) Blood , vol.123 , Issue.6 , pp. 809-821
    • Spinner, M.A.1    Sanchez, L.A.2    Hsu, A.P.3    Shaw, P.A.4    Zerbe, C.S.5    Calvo, K.R.6
  • 9
    • 84862666587 scopus 로고    scopus 로고
    • Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency
    • Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int. 2012;61(2):207–17.
    • (2012) Allergol Int , vol.61 , Issue.2 , pp. 207-217
    • Kawai, T.1    Nishikomori, R.2    Heike, T.3
  • 10
    • 77956385127 scopus 로고    scopus 로고
    • Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans
    • Au AC, Hernandez PA, Lieber E, Nadroo AM, Shen YM, Kelley KA, et al. Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans. Am J Hum Genet. 2010;87(3):436–44.
    • (2010) Am J Hum Genet , vol.87 , Issue.3 , pp. 436-444
    • Au, A.C.1    Hernandez, P.A.2    Lieber, E.3    Nadroo, A.M.4    Shen, Y.M.5    Kelley, K.A.6
  • 11
    • 0038353732 scopus 로고    scopus 로고
    • Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema- telangiectasia
    • Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, et al. Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema- telangiectasia. Am J Hum Genet. 2003;72(6):1470–8.
    • (2003) Am J Hum Genet , vol.72 , Issue.6 , pp. 1470-1478
    • Irrthum, A.1    Devriendt, K.2    Chitayat, D.3    Matthijs, G.4    Glade, C.5    Steijlen, P.M.6
  • 12
    • 84925239689 scopus 로고    scopus 로고
    • Hypotrichosis-lymphedematelangiectasia-renal defect associated with a truncating mutation in the SOX18 gene
    • Article first published online: 16 APR 2014
    • Moalem S, Brouillard P, Kuypers D, Legius E, Harvey E, Taylor G, et al. Hypotrichosis-lymphedematelangiectasia-renal defect associated with a truncating mutation in the SOX18 gene. Clin Genet. 2014. Article first published online: 16 APR 2014, DOI: 10.1111/cge.12388.
    • (2014) Clin Genet
    • Moalem, S.1    Brouillard, P.2    Kuypers, D.3    Legius, E.4    Harvey, E.5    Taylor, G.6
  • 16
    • 4544347706 scopus 로고    scopus 로고
    • Turner’s syndrome
    • Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med. 2004;351(12):1227–38.
    • (2004) N Engl J Med , vol.351 , Issue.12 , pp. 1227-1238
    • Sybert, V.P.1    McCauley, E.2
  • 17
    • 84887617105 scopus 로고    scopus 로고
    • RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation
    • Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013;34(12):1632–41.
    • (2013) Hum Mutat , vol.34 , Issue.12 , pp. 1632-1641
    • Revencu, N.1    Boon, L.M.2    Mendola, A.3    Cordisco, M.R.4    Dubois, J.5    Clapuyt, P.6
  • 20
  • 21
    • 84896797032 scopus 로고    scopus 로고
    • Genetics of lymphatic anomalies
    • Brouillard P, Boon L, Vikkula M. Genetics of lymphatic anomalies. J Clin Invest. 2014;124(3):898–904.
    • (2014) J Clin Invest , vol.124 , Issue.3 , pp. 898-904
    • Brouillard, P.1    Boon, L.2    Vikkula, M.3
  • 22
    • 84886769145 scopus 로고    scopus 로고
    • Phosphorylation regulates FOXC2- mediated transcription in lymphatic endothelial cells
    • Ivanov KI, Agalarov Y, Valmu L, Samuilova O, Liebl J, Houhou N, et al. Phosphorylation regulates FOXC2- mediated transcription in lymphatic endothelial cells. Mol Cell Biol. 2013;33(19):3749–61.
    • (2013) Mol Cell Biol , vol.33 , Issue.19 , pp. 3749-3761
    • Ivanov, K.I.1    Agalarov, Y.2    Valmu, L.3    Samuilova, O.4    Liebl, J.5    Houhou, N.6
  • 23
    • 80052673140 scopus 로고    scopus 로고
    • The manipulation of miRNA-gene regulatory networks by KSHV induces endothelial cell motility
    • Wu YH, Hu TF, Chen YC, Tsai YN, Tsai YH, Cheng CC, et al. The manipulation of miRNA-gene regulatory networks by KSHV induces endothelial cell motility. Blood. 2011;118(10):2896–905.
    • (2011) Blood , vol.118 , Issue.10 , pp. 2896-2905
    • Wu, Y.H.1    Hu, T.F.2    Chen, Y.C.3    Tsai, Y.N.4    Tsai, Y.H.5    Cheng, C.C.6
  • 24
    • 84896715993 scopus 로고    scopus 로고
    • Lymphatic vessel abnormalities arising from disorders of Ras signal transduction
    • Sevick-Muraca EM, King PD. Lymphatic vessel abnormalities arising from disorders of Ras signal transduction. Trends Cardiovasc Med. 2014;24(3): 121–7.
    • (2014) Trends Cardiovasc Med , vol.24 , Issue.3 , pp. 121-127
    • Sevick-Muraca, E.M.1    King, P.D.2
  • 25
    • 40849111494 scopus 로고    scopus 로고
    • Dramatic reduction of chronic lymphoedema of the lower limb with sorafenib therapy
    • Moncrieff M, Shannon K, Hong A, Hersey P, Thompson J. Dramatic reduction of chronic lymphoedema of the lower limb with sorafenib therapy. Melanoma Res. 2008;18(2):161–2.
    • (2008) Melanoma Res , vol.18 , Issue.2 , pp. 161-162
    • Moncrieff, M.1    Shannon, K.2    Hong, A.3    Hersey, P.4    Thompson, J.5
  • 27
    • 33748670727 scopus 로고    scopus 로고
    • Transfection of human hepatocyte growth factor gene ameliorates secondary lymphedema via promotion of lymphangiogenesis
    • Saito Y, Nakagami H, Morishita R, Takami Y, Kikuchi Y, Hayashi H, et al. Transfection of human hepatocyte growth factor gene ameliorates secondary lymphedema via promotion of lymphangiogenesis. Circulation. 2006;114(11):1177–84.
    • (2006) Circulation , vol.114 , Issue.11 , pp. 1177-1184
    • Saito, Y.1    Nakagami, H.2    Morishita, R.3    Takami, Y.4    Kikuchi, Y.5    Hayashi, H.6
  • 28
    • 84859867164 scopus 로고    scopus 로고
    • Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment
    • Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, et al. Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment. Clin Cancer Res. 2012;18(8):2382–90.
    • (2012) Clin Cancer Res , vol.18 , Issue.8 , pp. 2382-2390
    • Finegold, D.N.1    Baty, C.J.2    Knickelbein, K.Z.3    Perschke, S.4    Noon, S.E.5    Campbell, D.6
  • 29
    • 84876180106 scopus 로고    scopus 로고
    • Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery
    • Miaskowski C, Dodd M, Paul SM, West C, Hamolsky D, Abrams G, et al. Lymphatic and angiogenic candidate genes predict the development of secondary lymphedema following breast cancer surgery. PLoS One. 2013;8(4):e60164.
    • (2013) Plos One , vol.8 , Issue.4
    • Miaskowski, C.1    Dodd, M.2    Paul, S.M.3    West, C.4    Hamolsky, D.5    Abrams, G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.