Genetics of lymphatic anomalies
Identifieur interne : 006380 ( Ncbi/Curation ); précédent : 006379; suivant : 006381Genetics 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
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :004845
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :004844
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001B33
- to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001645
- to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :001645
- to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001645
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :006380
Links to Exploration step
PMC:3938256Curation
No country items
Pascal Brouillard<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 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>
<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>
<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>
<affiliation wicri:level="4"><nlm:aff id="JCI71614">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</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>
<affiliation wicri:level="4"><nlm:aff id="JCI71614">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">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 sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</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>
<affiliation wicri:level="4"><nlm:aff id="JCI71614">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">24590274</idno>
<idno type="pmc">3938256</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938256</idno>
<idno type="RBID">PMC:3938256</idno>
<idno type="doi">10.1172/JCI71614</idno>
<date when="2014">2014</date>
<idno type="wicri:Area/Pmc/Corpus">004845</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004845</idno>
<idno type="wicri:Area/Pmc/Curation">004844</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004844</idno>
<idno type="wicri:Area/Pmc/Checkpoint">001B33</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001B33</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">001645</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001645</idno>
<idno type="wicri:Area/PubMed/Curation">001645</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">001645</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001645</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">001645</idno>
<idno type="wicri:Area/Ncbi/Merge">006380</idno>
<idno type="wicri:Area/Ncbi/Curation">006380</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" 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 sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</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>
<affiliation wicri:level="4"><nlm:aff id="JCI71614">Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Walloon Excellence in Lifesciences and Biotechnology, Université catholique de Louvain, Brussels</wicri:regionArea>
<placeName><settlement type="city">Bruxelles</settlement>
<region nuts="2">Région de Bruxelles-Capitale</region>
<settlement type="city">Louvain-la-Neuve</settlement>
</placeName>
<orgName type="university">Université catholique de Louvain</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">The Journal of Clinical Investigation</title>
<idno type="ISSN">0021-9738</idno>
<idno type="eISSN">1558-8238</idno>
<imprint><date when="2014">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<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>
</keywords>
<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>
</keywords>
<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>
</keywords>
<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>
</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>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 006380 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 006380 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:3938256 |texte= Genetics of lymphatic anomalies }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:24590274" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
This area was generated with Dilib version V0.6.31. |