LymphedemaV1, PubMed, Checkpoint, bibRecord, 001530

Genetics of lymphatic anomalies.

Identifieur interne : 001530 ( PubMed/Checkpoint ); précédent : 001529; suivant : 001531

Genetics of lymphatic anomalies.

Auteurs : Pascal Brouillard ; Laurence Boon ; Miikka Vikkula

Source :

The Journal of clinical investigation [ 1558-8238 ] ; 2014.

RBID : pubmed:24590274

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 :

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.

DOI: 10.1172/JCI71614
PubMed: 24590274

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PubMed, to step Corpus: 001645
to stream PubMed, to step Curation: 001645

Links to Exploration step

pubmed:24590274

Le document en format XML

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<author><name sortKey="Boon, Laurence" sort="Boon, Laurence" uniqKey="Boon L" first="Laurence" last="Boon">Laurence Boon</name>
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<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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<term>Connexins (genetics)</term>
<term>Connexins (metabolism)</term>
<term>Gene Expression Regulation</term>
<term>Genetic Predisposition to Disease</term>
<term>Humans</term>
<term>Lymphatic Abnormalities (genetics)</term>
<term>Lymphedema (genetics)</term>
<term>Lymphedema (metabolism)</term>
<term>Mutation</term>
<term>Vascular Endothelial Growth Factor C (genetics)</term>
<term>Vascular Endothelial Growth Factor C (metabolism)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (metabolism)</term>
<term>ras Proteins (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Connexines (génétique)</term>
<term>Connexines (métabolisme)</term>
<term>Facteur de croissance endothéliale vasculaire de type C (génétique)</term>
<term>Facteur de croissance endothéliale vasculaire de type C (métabolisme)</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Lymphoedème (métabolisme)</term>
<term>Malformations lymphatiques (génétique)</term>
<term>Mutation</term>
<term>Protéines G ras (génétique)</term>
<term>Prédisposition génétique à une maladie</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (métabolisme)</term>
<term>Régulation de l'expression des gènes</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Connexins</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
<term>ras Proteins</term>
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<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Connexins</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphatic Abnormalities</term>
<term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Connexines</term>
<term>Facteur de croissance endothéliale vasculaire de type C</term>
<term>Lymphoedème</term>
<term>Malformations lymphatiques</term>
<term>Protéines G ras</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" 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>
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<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>
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<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>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
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<MeshHeading><DescriptorName UI="D042582" MajorTopicYN="N">Vascular Endothelial Growth Factor C</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName>
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<MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName>
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<MeshHeading><DescriptorName UI="D018631" MajorTopicYN="N">ras Proteins</DescriptorName>
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<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>
<name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
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   |type=    RBID
   |clé=     pubmed:24590274
   |texte=   Genetics of lymphatic anomalies.
}}

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	Serveur d'exploration sur le lymphœdème
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Serveur d'exploration sur le lymphœdème

Genetics of lymphatic anomalies.

Genetics of lymphatic anomalies.

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Abstract

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