Genetics of lymphatic anomalies
Identifieur interne : 002A51 ( Main/Exploration ); précédent : 002A50; suivant : 002A52Genetics of lymphatic anomalies
Auteurs : Pascal Brouillard ; Laurence Boon ; Miikka Vikkula [Belgique]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; 2014.
Descripteurs français
- KwdFr :
- Animaux, Connexines (génétique), Connexines (métabolisme), Facteur de croissance endothéliale vasculaire de type C (génétique), Facteur de croissance endothéliale vasculaire de type C (métabolisme), Humains, Lymphoedème (génétique), Lymphoedème (métabolisme), Malformations lymphatiques (génétique), Mutation, Protéines G ras (génétique), Prédisposition génétique à une maladie, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Récepteur-3 au facteur croissance endothéliale vasculaire (métabolisme), Régulation de l'expression des gènes.
- MESH :
- génétique : Connexines, Facteur de croissance endothéliale vasculaire de type C, Lymphoedème, Malformations lymphatiques, Protéines G ras, Récepteur-3 au facteur croissance endothéliale vasculaire.
- métabolisme : Connexines, Facteur de croissance endothéliale vasculaire de type C, Lymphoedème, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Animaux, Humains, Mutation, Prédisposition génétique à une maladie, Régulation de l'expression des gènes.
English descriptors
- KwdEn :
- Animals, Connexins (genetics), Connexins (metabolism), Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Lymphatic Abnormalities (genetics), Lymphedema (genetics), Lymphedema (metabolism), Mutation, Vascular Endothelial Growth Factor C (genetics), Vascular Endothelial Growth Factor C (metabolism), Vascular Endothelial Growth Factor Receptor-3 (genetics), Vascular Endothelial Growth Factor Receptor-3 (metabolism), ras Proteins (genetics).
- MESH :
- chemical , genetics : Connexins, Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3, ras Proteins.
- chemical , metabolism : Connexins, Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
- genetics : Lymphatic Abnormalities, Lymphedema.
- metabolism : Lymphedema.
- Animals, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Mutation.
Abstract
Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors.
Url:
DOI: 10.1172/JCI71614
PubMed: 24590274
PubMed Central: 3938256
Affiliations:
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type="main">Genetics of lymphatic anomalies</title><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name><affiliation><nlm:aff id="JCI71614">Laboratory of Human Molecular Genetics, de Duve Institute,</nlm:aff><wicri:noCountry code="subfield">de Duve Institute</wicri:noCountry></affiliation></author><author><name sortKey="Boon, Laurence" sort="Boon, Laurence" uniqKey="Boon L" first="Laurence" last="Boon">Laurence Boon</name><affiliation><nlm:aff id="JCI71614">Laboratory of Human Molecular Genetics, de Duve Institute,</nlm:aff><wicri:noCountry code="subfield">de Duve Institute</wicri:noCountry></affiliation><affiliation><nlm:aff wicri:cut=", and" id="JCI71614">Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc</nlm:aff><wicri:noCountry code="subfield">Cliniques Universitaires Saint-Luc</wicri:noCountry></affiliation></author><author><name 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xml:lang="fr"><term>Connexines</term><term>Facteur de croissance endothéliale vasculaire de type C</term><term>Lymphoedème</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Animals</term><term>Gene Expression Regulation</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Animaux</term><term>Humains</term><term>Mutation</term><term>Prédisposition génétique à une maladie</term><term>Régulation de l'expression des gènes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Lymphatic anomalies include a variety of developmental and/or functional defects affecting the lymphatic vessels: sporadic and familial forms of primary lymphedema, secondary lymphedema, chylothorax and chylous ascites, lymphatic malformations, and overgrowth syndromes with a lymphatic component. Germline mutations have been identified in at least 20 genes that encode proteins acting around VEGFR-3 signaling but also downstream of other tyrosine kinase receptors. These mutations exert their effects via the RAS/MAPK and the PI3K/AKT pathways and explain more than a quarter of the incidence of primary lymphedema, mostly of inherited forms. More common forms may also result from multigenic effects or post-zygotic mutations. Most of the corresponding murine knockouts are homozygous lethal, while heterozygotes are healthy, which suggests differences in human and murine physiology and the influence of other factors.</p></div></front></TEI><affiliations><list><country><li>Belgique</li></country><region><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li><li>Louvain-la-Neuve</li></settlement><orgName><li>Université catholique de Louvain</li></orgName></list><tree><noCountry><name sortKey="Boon, Laurence" sort="Boon, Laurence" uniqKey="Boon L" first="Laurence" last="Boon">Laurence Boon</name><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name></noCountry><country name="Belgique"><region name="Région de Bruxelles-Capitale"><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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