Update on the Molecular Genetics of Vascular Anomalies
Identifieur interne : 002072 ( Ncbi/Curation ); précédent : 002071; suivant : 002073Update on the Molecular Genetics of Vascular Anomalies
Auteurs : Qing K. WangSource :
- Lymphatic research and biology [ 1539-6851 ] ; 2005.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Malformations artérioveineuses, Tumeurs du tissu vasculaire.
- Humains.
English descriptors
- KwdEn :
- MESH :
- genetics : Arteriovenous Malformations, Neoplasms, Vascular Tissue.
- Humans.
Abstract
Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include
Url:
DOI: 10.1089/lrb.2005.3.226
PubMed: 16379592
PubMed Central: 1579841
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PMC:1579841Le document en format XML
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<term>Neoplasms, Vascular Tissue (genetics)</term>
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<keywords scheme="KwdFr" xml:lang="fr"><term>Humains</term>
<term>Malformations artérioveineuses (génétique)</term>
<term>Tumeurs du tissu vasculaire (génétique)</term>
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<front><div type="abstract" xml:lang="en"><p id="P1">Genetic factors play a critical role in the pathogenesis of vascular anomalies. Significant advances have been made in recent years in identifying the genetic and molecular determinants of a variety of vascular anomalies using a molecular genetic approach. Several genes for vascular anomalies have been identified. These genes include <italic>AGGF1</italic>
for Klippel-Trenaunay syndrome, <italic>RASA1</italic>
for capillary malformations, <italic>KRIT1</italic>
, <italic>MGC4607</italic>
, <italic>PDCD10</italic>
for cerebral cavernous malformations, <italic>glomulin</italic>
for glomuvenous malformations, <italic>TIE2</italic>
for multiple cutaneous and mucosal venous malformations, <italic>VEGFR-3</italic>
, <italic>FOXC2</italic>
, <italic>NEMO</italic>
, <italic>SOX18</italic>
for lymphedema or related syndromes, <italic>ENG</italic>
, <italic>ACVRLK1</italic>
, <italic>MADH4</italic>
for HHT or related syndromes, NDP for Coats’ disease, <italic>Notch3</italic>
for CADASIL, and <italic>PTEN</italic>
for Proteus Syndrome. These findings have made genetic testing possible in some clinical cases, and may lead to the development of therapeutic strategies for vascular anomalies. Furthermore, these studies have identified critical genes involved in vascular morphogenesis, and provided fundamental understanding of the molecular mechanisms underlying vasculogenesis and angiogenesis.</p>
</div>
</front>
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