Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. Kartopawiro, J., Bower, N. I., Karnezis, T., Kazenwadel, J., Betterman, K. L., Lesieur, E., Koltowska, K., Astin, J., Crosier, P., Vermeren, S., Achen, M. G., Stacker, S. A., Smith, K. A., Harvey, N. L., François, M., & Hogan, B. M. Human Molecular Genetics, 23(5):1286–1297, March, 2014. doi abstract bibtex Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.
@article{kartopawiro_arap3_2014,
title = {Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development},
volume = {23},
issn = {1460-2083},
doi = {10.1093/hmg/ddt518},
abstract = {Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.},
language = {eng},
number = {5},
journal = {Human Molecular Genetics},
author = {Kartopawiro, Joëlle and Bower, Neil I. and Karnezis, Tara and Kazenwadel, Jan and Betterman, Kelly L. and Lesieur, Emmanuelle and Koltowska, Katarzyna and Astin, Jonathan and Crosier, Philip and Vermeren, Sonja and Achen, Marc G. and Stacker, Steven A. and Smith, Kelly A. and Harvey, Natasha L. and François, Mathias and Hogan, Benjamin M.},
month = mar,
year = {2014},
pmid = {24163130},
keywords = {Animals, Mice, Female, Mice, Knockout, SOXF Transcription Factors, Zebrafish, Disease Models, Animal, Gene Expression Regulation, Endothelial Cells, Lymphangiogenesis, Lymphatic Vessels, Vascular Endothelial Growth Factor C, Syndrome, Adaptor Proteins, Signal Transducing, Cell Movement, GTPase-Activating Proteins, Hypotrichosis, Lymphedema, Telangiectasis},
pages = {1286--1297},
file = {Full Text:/Users/cristina/Zotero/storage/RBQW9HST/Kartopawiro et al. - 2014 - Arap3 is dysregulated in a mouse model of hypotric.pdf:application/pdf},
}
Downloads: 0
{"_id":"nMj7FJ3bSjrv4jtfW","bibbaseid":"kartopawiro-bower-karnezis-kazenwadel-betterman-lesieur-koltowska-astin-etal-arap3isdysregulatedinamousemodelofhypotrichosislymphedematelangiectasiaandregulateslymphaticvasculardevelopment-2014","author_short":["Kartopawiro, J.","Bower, N. I.","Karnezis, T.","Kazenwadel, J.","Betterman, K. L.","Lesieur, E.","Koltowska, K.","Astin, J.","Crosier, P.","Vermeren, S.","Achen, M. G.","Stacker, S. A.","Smith, K. A.","Harvey, N. L.","François, M.","Hogan, B. M."],"bibdata":{"bibtype":"article","type":"article","title":"Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development","volume":"23","issn":"1460-2083","doi":"10.1093/hmg/ddt518","abstract":"Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.","language":"eng","number":"5","journal":"Human Molecular Genetics","author":[{"propositions":[],"lastnames":["Kartopawiro"],"firstnames":["Joëlle"],"suffixes":[]},{"propositions":[],"lastnames":["Bower"],"firstnames":["Neil","I."],"suffixes":[]},{"propositions":[],"lastnames":["Karnezis"],"firstnames":["Tara"],"suffixes":[]},{"propositions":[],"lastnames":["Kazenwadel"],"firstnames":["Jan"],"suffixes":[]},{"propositions":[],"lastnames":["Betterman"],"firstnames":["Kelly","L."],"suffixes":[]},{"propositions":[],"lastnames":["Lesieur"],"firstnames":["Emmanuelle"],"suffixes":[]},{"propositions":[],"lastnames":["Koltowska"],"firstnames":["Katarzyna"],"suffixes":[]},{"propositions":[],"lastnames":["Astin"],"firstnames":["Jonathan"],"suffixes":[]},{"propositions":[],"lastnames":["Crosier"],"firstnames":["Philip"],"suffixes":[]},{"propositions":[],"lastnames":["Vermeren"],"firstnames":["Sonja"],"suffixes":[]},{"propositions":[],"lastnames":["Achen"],"firstnames":["Marc","G."],"suffixes":[]},{"propositions":[],"lastnames":["Stacker"],"firstnames":["Steven","A."],"suffixes":[]},{"propositions":[],"lastnames":["Smith"],"firstnames":["Kelly","A."],"suffixes":[]},{"propositions":[],"lastnames":["Harvey"],"firstnames":["Natasha","L."],"suffixes":[]},{"propositions":[],"lastnames":["François"],"firstnames":["Mathias"],"suffixes":[]},{"propositions":[],"lastnames":["Hogan"],"firstnames":["Benjamin","M."],"suffixes":[]}],"month":"March","year":"2014","pmid":"24163130","keywords":"Animals, Mice, Female, Mice, Knockout, SOXF Transcription Factors, Zebrafish, Disease Models, Animal, Gene Expression Regulation, Endothelial Cells, Lymphangiogenesis, Lymphatic Vessels, Vascular Endothelial Growth Factor C, Syndrome, Adaptor Proteins, Signal Transducing, Cell Movement, GTPase-Activating Proteins, Hypotrichosis, Lymphedema, Telangiectasis","pages":"1286–1297","file":"Full Text:/Users/cristina/Zotero/storage/RBQW9HST/Kartopawiro et al. - 2014 - Arap3 is dysregulated in a mouse model of hypotric.pdf:application/pdf","bibtex":"@article{kartopawiro_arap3_2014,\n\ttitle = {Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development},\n\tvolume = {23},\n\tissn = {1460-2083},\n\tdoi = {10.1093/hmg/ddt518},\n\tabstract = {Mutations in SOX18, VEGFC and Vascular Endothelial Growth Factor 3 underlie the hereditary lymphatic disorders hypotrichosis-lymphedema-telangiectasia (HLT), Milroy-like lymphedema and Milroy disease, respectively. Genes responsible for hereditary lymphedema are key regulators of lymphatic vascular development in the embryo. To identify novel modulators of lymphangiogenesis, we used a mouse model of HLT (Ragged Opossum) and performed gene expression profiling of aberrant dermal lymphatic vessels. Expression studies and functional analysis in zebrafish and mice revealed one candidate, ArfGAP with RhoGAP domain, Ankyrin repeat and PH domain 3 (ARAP3), which is down-regulated in HLT mouse lymphatic vessels and necessary for lymphatic vascular development in mice and zebrafish. We position this known regulator of cell behaviour during migration as a mediator of the cellular response to Vegfc signalling in lymphatic endothelial cells in vitro and in vivo. Our data refine common mechanisms that are likely to contribute during both development and the pathogenesis of lymphatic vascular disorders.},\n\tlanguage = {eng},\n\tnumber = {5},\n\tjournal = {Human Molecular Genetics},\n\tauthor = {Kartopawiro, Joëlle and Bower, Neil I. and Karnezis, Tara and Kazenwadel, Jan and Betterman, Kelly L. and Lesieur, Emmanuelle and Koltowska, Katarzyna and Astin, Jonathan and Crosier, Philip and Vermeren, Sonja and Achen, Marc G. and Stacker, Steven A. and Smith, Kelly A. and Harvey, Natasha L. and François, Mathias and Hogan, Benjamin M.},\n\tmonth = mar,\n\tyear = {2014},\n\tpmid = {24163130},\n\tkeywords = {Animals, Mice, Female, Mice, Knockout, SOXF Transcription Factors, Zebrafish, Disease Models, Animal, Gene Expression Regulation, Endothelial Cells, Lymphangiogenesis, Lymphatic Vessels, Vascular Endothelial Growth Factor C, Syndrome, Adaptor Proteins, Signal Transducing, Cell Movement, GTPase-Activating Proteins, Hypotrichosis, Lymphedema, Telangiectasis},\n\tpages = {1286--1297},\n\tfile = {Full Text:/Users/cristina/Zotero/storage/RBQW9HST/Kartopawiro et al. - 2014 - Arap3 is dysregulated in a mouse model of hypotric.pdf:application/pdf},\n}\n\n","author_short":["Kartopawiro, J.","Bower, N. I.","Karnezis, T.","Kazenwadel, J.","Betterman, K. L.","Lesieur, E.","Koltowska, K.","Astin, J.","Crosier, P.","Vermeren, S.","Achen, M. G.","Stacker, S. A.","Smith, K. A.","Harvey, N. L.","François, M.","Hogan, B. M."],"key":"kartopawiro_arap3_2014","id":"kartopawiro_arap3_2014","bibbaseid":"kartopawiro-bower-karnezis-kazenwadel-betterman-lesieur-koltowska-astin-etal-arap3isdysregulatedinamousemodelofhypotrichosislymphedematelangiectasiaandregulateslymphaticvasculardevelopment-2014","role":"author","urls":{},"keyword":["Animals","Mice","Female","Mice","Knockout","SOXF Transcription Factors","Zebrafish","Disease Models","Animal","Gene Expression Regulation","Endothelial Cells","Lymphangiogenesis","Lymphatic Vessels","Vascular Endothelial Growth Factor C","Syndrome","Adaptor Proteins","Signal Transducing","Cell Movement","GTPase-Activating Proteins","Hypotrichosis","Lymphedema","Telangiectasis"],"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://raw.githubusercontent.com/crisaless/hugo-serif-deriva/master/exampleSite/static/deriva.bib","dataSources":["Xngq2WDk97aWqouA5","SbR97nY87cwp9QrPt"],"keywords":["animals","mice","female","mice","knockout","soxf transcription factors","zebrafish","disease models","animal","gene expression regulation","endothelial cells","lymphangiogenesis","lymphatic vessels","vascular endothelial growth factor c","syndrome","adaptor proteins","signal transducing","cell movement","gtpase-activating proteins","hypotrichosis","lymphedema","telangiectasis"],"search_terms":["arap3","dysregulated","mouse","model","hypotrichosis","lymphedema","telangiectasia","regulates","lymphatic","vascular","development","kartopawiro","bower","karnezis","kazenwadel","betterman","lesieur","koltowska","astin","crosier","vermeren","achen","stacker","smith","harvey","françois","hogan"],"title":"Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development","year":2014}