Molecular genetics of vascular malformations
Identifieur interne : 003D28 ( Istex/Curation ); précédent : 003D27; suivant : 003D29Molecular genetics of vascular malformations
Auteurs : Miikka Vikkula [Belgique] ; Laurence M. Boon [Belgique] ; John B. Mulliken [États-Unis]Source :
- Matrix Biology [ 0945-053X ] ; 2001.
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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.
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DOI: 10.1016/S0945-053X(01)00150-0
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Tel.: +32-2-764-6530; fax: +32-2-764 7548</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: vikkula@bchm.ucl.ac.be</mods:affiliation><country wicri:rule="url">Belgique</country></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. 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Mulliken</name><affiliation wicri:level="1"><mods:affiliation>Division of Plastic Surgery, Children's Hospital and Harvard Medical School, Boston, MA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Children's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:81E8D60B1F7F7289858F94B6726D2E79824973F8</idno><date when="2001" year="2001">2001</date><idno type="doi">10.1016/S0945-053X(01)00150-0</idno><idno type="url">https://api.istex.fr/document/81E8D60B1F7F7289858F94B6726D2E79824973F8/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003D28</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">003D28</idno><idno type="wicri:Area/Istex/Curation">003D28</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Molecular genetics of vascular malformations</title><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><mods: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</mods: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></affiliation><affiliation><mods:affiliation>Corresponding author. Tel.: +32-2-764-6530; fax: +32-2-764 7548</mods:affiliation></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: vikkula@bchm.ucl.ac.be</mods:affiliation><country wicri:rule="url">Belgique</country></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name><affiliation wicri:level="1"><mods: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</mods: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></affiliation><affiliation wicri:level="1"><mods:affiliation>Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires St-Luc, Université Catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B." last="Mulliken">John B. Mulliken</name><affiliation wicri:level="1"><mods:affiliation>Division of Plastic Surgery, Children's Hospital and Harvard Medical School, Boston, MA, USA</mods:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Plastic Surgery, Children's Hospital and Harvard Medical School, Boston, MA</wicri:regionArea></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>Cavernous angioma</term><term>Glomus tumor</term><term>Glomuvenous malformation</term><term>Hemangioma</term><term>KRIT1</term><term>Lymphedema</term><term>TIE2</term><term>VEGFR3</term><term>Vascular anomaly</term><term>Venous malformation</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></record>Pour manipuler ce document sous Unix (Dilib)
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