Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Identifieur interne : 003B64 ( Ncbi/Curation ); précédent : 003B63; suivant : 003B65Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Auteurs : Russell H. Mellor [Royaume-Uni] ; Charlotte E. Hubert ; Anthony W B. Stanton ; Naomi Tate ; Victoria Akhras ; Alberto Smith ; Kevin G. Burnand ; Steve Jeffery ; Taija M Kinen ; J Rodney Levick ; Peter S. MortimerSource :
- Microcirculation (New York, N.Y. : 1994) [ 1549-8719 ] ; 2010.
Descripteurs français
- KwdFr :
- Adulte, Adulte d'âge moyen, Avant-bras, Colorants fluorescents, Dextrane, Femelle, Fluorescéine-5-isothiocyanate (analogues et dérivés), Humains, Immunohistochimie, Jeune adulte, Lymphoedème (anatomopathologie), Lymphoedème (génétique), Lymphoedème (physiopathologie), Lymphoedème (étiologie), Lymphographie (), Mutation, Mâle, Pied, Protéines du transport vésiculaire (métabolisme), Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Sujet âgé, Système lymphatique (anatomopathologie), Système lymphatique (imagerie diagnostique), Système lymphatique (physiopathologie), Échographie-doppler couleur, Études cas-témoins.
- MESH :
- analogues et dérivés : Fluorescéine-5-isothiocyanate.
- anatomopathologie : Lymphoedème, Système lymphatique.
- génétique : Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- imagerie diagnostique : Système lymphatique.
- métabolisme : Protéines du transport vésiculaire.
- physiopathologie : Lymphoedème, Système lymphatique.
- étiologie : Lymphoedème.
- Adulte, Adulte d'âge moyen, Avant-bras, Colorants fluorescents, Dextrane, Femelle, Humains, Immunohistochimie, Jeune adulte, Lymphographie, Mutation, Mâle, Pied, Sujet âgé, Échographie-doppler couleur, Études cas-témoins.
English descriptors
- KwdEn :
- Adult, Aged, Case-Control Studies, Dextrans, Female, Fluorescein-5-isothiocyanate (analogs & derivatives), Fluorescent Dyes, Foot, Forearm, Humans, Immunohistochemistry, Lymphatic System (diagnostic imaging), Lymphatic System (pathology), Lymphatic System (physiopathology), Lymphedema (etiology), Lymphedema (genetics), Lymphedema (pathology), Lymphedema (physiopathology), Lymphography (methods), Male, Middle Aged, Mutation, Ultrasonography, Doppler, Color, Vascular Endothelial Growth Factor Receptor-3 (genetics), Vesicular Transport Proteins (metabolism), Young Adult.
- MESH :
- chemical , analogs & derivatives : Fluorescein-5-isothiocyanate.
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- chemical , metabolism : Vesicular Transport Proteins.
- chemical : Dextrans, Fluorescent Dyes.
- diagnostic imaging : Lymphatic System.
- etiology : Lymphedema.
- genetics : Lymphedema.
- methods : Lymphography.
- pathology : Lymphatic System, Lymphedema.
- physiopathology : Lymphatic System, Lymphedema.
- Adult, Aged, Case-Control Studies, Female, Foot, Forearm, Humans, Immunohistochemistry, Male, Middle Aged, Mutation, Ultrasonography, Doppler, Color, Young Adult.
Abstract
Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.
DOI: 10.1111/j.1549-8719.2010.00030.x
PubMed: 20536741
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pubmed:20536741Le document en format XML
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<term>Aged</term>
<term>Case-Control Studies</term>
<term>Dextrans</term>
<term>Female</term>
<term>Fluorescein-5-isothiocyanate (analogs & derivatives)</term>
<term>Fluorescent Dyes</term>
<term>Foot</term>
<term>Forearm</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Lymphatic System (diagnostic imaging)</term>
<term>Lymphatic System (pathology)</term>
<term>Lymphatic System (physiopathology)</term>
<term>Lymphedema (etiology)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (pathology)</term>
<term>Lymphedema (physiopathology)</term>
<term>Lymphography (methods)</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Ultrasonography, Doppler, Color</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
<term>Vesicular Transport Proteins (metabolism)</term>
<term>Young Adult</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Avant-bras</term>
<term>Colorants fluorescents</term>
<term>Dextrane</term>
<term>Femelle</term>
<term>Fluorescéine-5-isothiocyanate (analogues et dérivés)</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Jeune adulte</term>
<term>Lymphoedème (anatomopathologie)</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (physiopathologie)</term>
<term>Lymphoedème (étiologie)</term>
<term>Lymphographie ()</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Pied</term>
<term>Protéines du transport vésiculaire (métabolisme)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Sujet âgé</term>
<term>Système lymphatique (anatomopathologie)</term>
<term>Système lymphatique (imagerie diagnostique)</term>
<term>Système lymphatique (physiopathologie)</term>
<term>Échographie-doppler couleur</term>
<term>Études cas-témoins</term>
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<term>Système lymphatique</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lymphatic System</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
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<keywords scheme="MESH" qualifier="imagerie diagnostique" xml:lang="fr"><term>Système lymphatique</term>
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<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Lymphography</term>
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<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Protéines du transport vésiculaire</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphatic System</term>
<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="physiopathologie" xml:lang="fr"><term>Lymphoedème</term>
<term>Système lymphatique</term>
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<term>Lymphedema</term>
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<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Lymphoedème</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Case-Control Studies</term>
<term>Female</term>
<term>Foot</term>
<term>Forearm</term>
<term>Humans</term>
<term>Immunohistochemistry</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Ultrasonography, Doppler, Color</term>
<term>Young Adult</term>
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<term>Adulte d'âge moyen</term>
<term>Avant-bras</term>
<term>Colorants fluorescents</term>
<term>Dextrane</term>
<term>Femelle</term>
<term>Humains</term>
<term>Immunohistochimie</term>
<term>Jeune adulte</term>
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<term>Mutation</term>
<term>Mâle</term>
<term>Pied</term>
<term>Sujet âgé</term>
<term>Échographie-doppler couleur</term>
<term>Études cas-témoins</term>
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<front><div type="abstract" xml:lang="en">Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.</div>
</front>
</TEI>
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