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FROM BLUE JEANS TO BLUE GENES

Identifieur interne : 002895 ( Pmc/Corpus ); précédent : 002894; suivant : 002896

FROM BLUE JEANS TO BLUE GENES

Auteurs : Laurence M. Boon ; Miikka Vikkula

Source :

RBID : PMC:2901832

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

Links to Exploration step

PMC:2901832

Le document en format XML

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<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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<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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<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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Center for vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires St Luc Avenue Hippocrate 10, B-1200 Brussels</aff>
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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>
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<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>
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<contract-num rid="AR1">P01 AR048564-06A16381 ||AR</contract-num>
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