Molecular genetics of vascular malformations.
Identifieur interne : 009E12 ( Main/Merge ); précédent : 009E11; suivant : 009E13Molecular genetics of vascular malformations.
Auteurs : M. Vikkula [Belgique] ; L M Boon ; J B MullikenSource :
- Matrix biology : journal of the International Society for Matrix Biology [ 0945-053X ] ; 2001.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Lymphoedème, Malformations artérioveineuses, Malformations vasculaires du système nerveux central, Mutation, Tumeur glomique.
- malformations : Vaisseaux capillaires, Veines.
- Aberrations des chromosomes, Humains, Peau.
English descriptors
- KwdEn :
- MESH :
- abnormalities : Capillaries, Veins.
- blood supply : Skin.
- genetics : Arteriovenous Malformations, Central Nervous System Vascular Malformations, Glomus Tumor, Lymphedema, Mutation.
- Chromosome Aberrations, Humans.
Abstract
Vascular malformations are localized errors of angiogenic development. Most are cutaneous and are called vascular 'birthmarks'. These anomalies are usually obvious in the newborn, grow commensurately with the child, and gradually expand in adulthood (Mulliken and Glowacki, 1982). Vascular malformations also occur in visceral organs, such as the respiratory and gastrointestinal tract, but are more common in the brain (Mulliken and Young, 1988). These anomalies are composed of tortuous vascular channels of varying size and shape, lined by a continuous endothelium and surrounded by abnormal complement of mural cells. Vascular malformation can be life threatening due to obstruction, bleeding or congestive heart failure. Most anomalies occur sporadically, but there are families exhibiting autosomal dominant inheritance. Genetic studies of such families have resulted in the identification of mutated genes, directly giving proof of their important role in the regulation of angiogenesis.
PubMed: 11566267
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Vikkula</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université Catholique de Louvain, Avenue Hippocrate 75+4, bp. 75.39, B-1200 Brussels, Belgium. vikkula@bchm.ucl.ac.be</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université Catholique de Louvain, Avenue Hippocrate 75+4, bp. 75.39, B-1200 Brussels</wicri:regionArea><wicri:noRegion>B-1200 Brussels</wicri:noRegion></affiliation></author><author><name sortKey="Boon, L M" sort="Boon, L M" uniqKey="Boon L" first="L M" last="Boon">L M Boon</name></author><author><name sortKey="Mulliken, J B" sort="Mulliken, J B" uniqKey="Mulliken J" first="J B" last="Mulliken">J B Mulliken</name></author></analytic><series><title level="j">Matrix biology : journal of the International Society for Matrix Biology</title><idno type="ISSN">0945-053X</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arteriovenous Malformations (genetics)</term><term>Capillaries (abnormalities)</term><term>Central Nervous System Vascular Malformations (genetics)</term><term>Chromosome Aberrations</term><term>Glomus Tumor (genetics)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Mutation (genetics)</term><term>Skin (blood supply)</term><term>Veins (abnormalities)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Malformations artérioveineuses (génétique)</term><term>Malformations vasculaires du système nerveux central (génétique)</term><term>Mutation (génétique)</term><term>Peau ()</term><term>Tumeur glomique (génétique)</term><term>Vaisseaux capillaires (malformations)</term><term>Veines (malformations)</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Capillaries</term><term>Veins</term></keywords><keywords scheme="MESH" qualifier="blood supply" xml:lang="en"><term>Skin</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Arteriovenous Malformations</term><term>Central Nervous System Vascular Malformations</term><term>Glomus Tumor</term><term>Lymphedema</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Malformations artérioveineuses</term><term>Malformations vasculaires du système nerveux central</term><term>Mutation</term><term>Tumeur glomique</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Vaisseaux capillaires</term><term>Veines</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Chromosome Aberrations</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Aberrations des chromosomes</term><term>Humains</term><term>Peau</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Vascular malformations are localized errors of angiogenic development. Most are cutaneous and are called vascular 'birthmarks'. These anomalies are usually obvious in the newborn, grow commensurately with the child, and gradually expand in adulthood (Mulliken and Glowacki, 1982). Vascular malformations also occur in visceral organs, such as the respiratory and gastrointestinal tract, but are more common in the brain (Mulliken and Young, 1988). These anomalies are composed of tortuous vascular channels of varying size and shape, lined by a continuous endothelium and surrounded by abnormal complement of mural cells. Vascular malformation can be life threatening due to obstruction, bleeding or congestive heart failure. Most anomalies occur sporadically, but there are families exhibiting autosomal dominant inheritance. Genetic studies of such families have resulted in the identification of mutated genes, directly giving proof of their important role in the regulation of angiogenesis.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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