FROM BLUE JEANS TO BLUE GENES
Identifieur interne : 002895 ( Pmc/Corpus ); précédent : 002894; suivant : 002896FROM BLUE JEANS TO BLUE GENES
Auteurs : Laurence M. Boon ; Miikka VikkulaSource :
- The Journal of craniofacial surgery [ 1049-2275 ] ; 2009.
Abstract
Cutaneous venous anomalies are common. They are blue in color and vary in size, number and location, and account for the majority of consultations at specialized interdisciplinary clinics for vascular anomalies. Venous lesions are clinically important as they cause pain, dysfunction, destruction of adjacent tissues and esthetic concern. Only resection and sclerotherapy are helpful, although not always curative. Understanding etiopathogenesis could help design animal models and develop novel therapeutic approaches.
Dr Mulliken envisioned a project to uncover the genetic basis of an inherited form of venous malformation in a large New England family. Recruitment of two young fellows resulted in a collaborative project that unraveled the searched-for-gene and its mutation. This was an opening for a new era in the field of vascular anomalies. Two blue genes’ mutations were discovered, which account for the majority, if not all, of the inherited forms of venous anomalies, but other genes as well, for rheologically diverse lesions. Differential diagnosis and management has improved, and animal models are being made. This was achieved thanks to Dr Mulliken, who inspired two young investigators in blue jeans to find two blue genes.
Url:
DOI: 10.1097/SCS.0b013e318193d7a0
PubMed: 19190503
PubMed Central: 2901832
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PMC:2901832Le document en format XML
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<author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name>
<affiliation><nlm:aff id="A1"> Center for vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires St Luc Avenue Hippocrate 10, B-1200 Brussels</nlm:aff>
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<affiliation><nlm:aff id="A2"> Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, 5th floor, B-1200 Brussels, Belgium</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
<affiliation><nlm:aff id="A2"> Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, 5th floor, B-1200 Brussels, Belgium</nlm:aff>
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<author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name>
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<series><title level="j">The Journal of craniofacial surgery</title>
<idno type="ISSN">1049-2275</idno>
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<front><div type="abstract" xml:lang="en"><p id="P1">Cutaneous venous anomalies are common. They are blue in color and vary in size, number and location, and account for the majority of consultations at specialized interdisciplinary clinics for vascular anomalies. Venous lesions are clinically important as they cause pain, dysfunction, destruction of adjacent tissues and esthetic concern. Only resection and sclerotherapy are helpful, although not always curative. Understanding etiopathogenesis could help design animal models and develop novel therapeutic approaches.</p>
<p id="P2">Dr Mulliken envisioned a project to uncover the genetic basis of an inherited form of venous malformation in a large New England family. Recruitment of two young fellows resulted in a collaborative project that unraveled the searched-for-gene and its mutation. This was an opening for a new era in the field of vascular anomalies. Two blue genes’ mutations were discovered, which account for the majority, if not all, of the inherited forms of venous anomalies, but other genes as well, for rheologically diverse lesions. Differential diagnosis and management has improved, and animal models are being made. This was achieved thanks to Dr Mulliken, who inspired two young investigators in blue jeans to find two blue genes.</p>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9010410</journal-id>
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<journal-id journal-id-type="nlm-ta">J Craniofac Surg</journal-id>
<journal-title>The Journal of craniofacial surgery</journal-title>
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<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
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<title-group><article-title>FROM BLUE JEANS TO BLUE GENES</article-title>
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<contrib-group><contrib contrib-type="author"><name><surname>Boon</surname>
<given-names>Laurence M.</given-names>
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<degrees>MD, PhD</degrees>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
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<contrib contrib-type="author"><name><surname>Vikkula</surname>
<given-names>Miikka</given-names>
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<degrees>MD, PhD</degrees>
<xref rid="A2" ref-type="aff">2</xref>
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<aff id="A1"><label>1</label>
Center for vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires St Luc Avenue Hippocrate 10, B-1200 Brussels</aff>
<aff id="A2"><label>2</label>
Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74, 5th floor, B-1200 Brussels, Belgium</aff>
<author-notes><corresp id="FN1">Corresponding author: Miikka Vikkula, MD, PhD, Phone: +32 2 764 7490, Fax: +32 2 764 7460, <email>miikka.vikkula@uclouvain.be</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>7</day>
<month>6</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="ppub"><month>3</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>12</day>
<month>7</month>
<year>2010</year>
</pub-date>
<volume>20</volume>
<issue>Suppl 1</issue>
<fpage>703</fpage>
<lpage>706</lpage>
<related-article journal-id-type="nlm-ta" journal-id="J Craniofac Surg" related-article-type="correction-forward" vol="20" page="1629" id="N0x10956150N0x113fa660" ext-link-type="pmc"></related-article>
<abstract><p id="P1">Cutaneous venous anomalies are common. They are blue in color and vary in size, number and location, and account for the majority of consultations at specialized interdisciplinary clinics for vascular anomalies. Venous lesions are clinically important as they cause pain, dysfunction, destruction of adjacent tissues and esthetic concern. Only resection and sclerotherapy are helpful, although not always curative. Understanding etiopathogenesis could help design animal models and develop novel therapeutic approaches.</p>
<p id="P2">Dr Mulliken envisioned a project to uncover the genetic basis of an inherited form of venous malformation in a large New England family. Recruitment of two young fellows resulted in a collaborative project that unraveled the searched-for-gene and its mutation. This was an opening for a new era in the field of vascular anomalies. Two blue genes’ mutations were discovered, which account for the majority, if not all, of the inherited forms of venous anomalies, but other genes as well, for rheologically diverse lesions. Differential diagnosis and management has improved, and animal models are being made. This was achieved thanks to Dr Mulliken, who inspired two young investigators in blue jeans to find two blue genes.</p>
</abstract>
<kwd-group><kwd>vascular anomaly</kwd>
<kwd>genetic</kwd>
<kwd>angioma</kwd>
<kwd>venous malformation</kwd>
<kwd>glomangioma</kwd>
</kwd-group>
<contract-num rid="AR1">P01 AR048564-06A16381
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<contract-sponsor id="AR1">National Institute of Arthritis and Musculoskeletal and Skin Diseases : NIAMS</contract-sponsor>
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