Molecular genetics of vascular malformations
Identifieur interne : 009E37 ( Main/Exploration ); précédent : 009E36; suivant : 009E38Molecular genetics of vascular malformations
Auteurs : Miikka Vikkula [Belgique] ; Laurence M. Boon [Belgique] ; John B. Mulliken [États-Unis]Source :
- 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 :
- Angiogenesis, Angioprotein, Arterio-venous malformation, Arteriovenous Malformations (genetics), Capillaries (abnormalities), Cavernous angioma, Central Nervous System Vascular Malformations (genetics), Chromosome Aberrations, Glomus Tumor (genetics), Glomus tumor, Glomuvenous malformation, Hemangioma, Humans, KRIT1, Lymphedema, Lymphedema (genetics), Mutation (genetics), Skin (blood supply), TIE2, VEGFR3, Vascular anomaly, Veins (abnormalities), Venous malformation.
- 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.
Url:
DOI: 10.1016/S0945-053X(01)00150-0
Affiliations:
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Mulliken</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Children's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Matrix Biology</title><title level="j" type="abbrev">MATBIO</title><idno type="ISSN">0945-053X</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="2001">2001</date><biblScope unit="volume">20</biblScope><biblScope unit="issue">5–6</biblScope><biblScope unit="page" from="327">327</biblScope><biblScope unit="page" to="335">335</biblScope></imprint><idno type="ISSN">0945-053X</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0945-053X</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Angiogenesis</term><term>Angioprotein</term><term>Arterio-venous malformation</term><term>Arteriovenous Malformations (genetics)</term><term>Capillaries (abnormalities)</term><term>Cavernous angioma</term><term>Central Nervous System Vascular Malformations (genetics)</term><term>Chromosome Aberrations</term><term>Glomus Tumor (genetics)</term><term>Glomus tumor</term><term>Glomuvenous malformation</term><term>Hemangioma</term><term>Humans</term><term>KRIT1</term><term>Lymphedema</term><term>Lymphedema (genetics)</term><term>Mutation (genetics)</term><term>Skin (blood supply)</term><term>TIE2</term><term>VEGFR3</term><term>Vascular anomaly</term><term>Veins (abnormalities)</term><term>Venous malformation</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><langUsage><language ident="en">en</language></langUsage></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><affiliations><list><country><li>Belgique</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Région de Bruxelles-Capitale</li></region><settlement><li>Bruxelles</li></settlement></list><tree><country name="Belgique"><noRegion><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></noRegion><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B." last="Mulliken">John B. Mulliken</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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