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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Vascular Anomalies: From Genetics toward Models for Therapeutic Trials</title><author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><affiliation><nlm:aff id="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></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><nlm:aff id="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="af2">Center for Vascular Anomalies, Cliniques Universitaires St Luc, 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="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22908197</idno><idno type="pmc">3405833</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405833</idno><idno type="RBID">PMC:3405833</idno><idno type="doi">10.1101/cshperspect.a009688</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">004813</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004813</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Vascular Anomalies: From Genetics toward Models for Therapeutic Trials</title><author><name sortKey="Uebelhoer, Melanie" sort="Uebelhoer, Melanie" uniqKey="Uebelhoer M" first="Melanie" last="Uebelhoer">Melanie Uebelhoer</name><affiliation><nlm:aff id="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></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><nlm:aff id="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></affiliation><affiliation><nlm:aff id="af2">Center for Vascular Anomalies, Cliniques Universitaires St Luc, 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="af1">Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</nlm:aff></affiliation></author></analytic><series><title level="j">Cold Spring Harbor Perspectives in Medicine</title><idno type="eISSN">2157-1422</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Vascular anomalies are localized abnormalities that occur during vascular development. Several causative genes have been identified not only for inherited but also for some sporadic forms, and the molecular pathways involved are becoming understood. This gives us the opportunity to generate animals carrying the causative genetic defects, which we hope model the phenotype seen in human patients. These models would enable us not only to test known antiangiogenic drugs, but also to develop novel approaches for treatment, directly targeting the mutated protein or molecules implicated in the pathophysiological signaling pathways.</p></div></front></TEI><pmc article-type="review-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Cold Spring Harb Perspect Med</journal-id><journal-id journal-id-type="iso-abbrev">Cold Spring Harb Perspect Med</journal-id><journal-id journal-id-type="publisher-id">cshperspectmed</journal-id><journal-id journal-id-type="hwp">cshperspectmed</journal-id><journal-title-group><journal-title>Cold Spring Harbor Perspectives in Medicine</journal-title></journal-title-group><issn pub-type="epub">2157-1422</issn><publisher><publisher-name>Cold Spring Harbor Laboratory Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22908197</article-id><article-id pub-id-type="pmc">3405833</article-id><article-id pub-id-type="doi">10.1101/cshperspect.a009688</article-id><article-id pub-id-type="publisher-id">a009688</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>002</subject></subj-group><subj-group subj-group-type="heading"><subject>Perspectives</subject></subj-group></article-categories><title-group><article-title>Vascular Anomalies: From Genetics toward Models for Therapeutic Trials</article-title><alt-title alt-title-type="left-running">M. Uebelhoer et al.</alt-title><alt-title alt-title-type="right-running">Vascular Anomalies</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Uebelhoer</surname><given-names>Melanie</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Boon</surname><given-names>Laurence M.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>Miikka</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib></contrib-group><aff id="af1"><label>1</label>Laboratory of Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium</aff><aff id="af2"><label>2</label>Center for Vascular Anomalies, Cliniques Universitaires St Luc, B-1200 Brussels, Belgium</aff><author-notes><corresp><italic>Correspondence:</italic><email>miikka.vikkula@uclouvain.be</email></corresp></author-notes><pub-date pub-type="ppub"><month>8</month><year>2012</year></pub-date><volume>2</volume><issue>8</issue><elocation-id>a009688</elocation-id><permissions><copyright-statement>Copyright © 2012 Cold Spring Harbor Laboratory Press; all rights reserved</copyright-statement><copyright-year>2012</copyright-year></permissions><self-uri content-type="pdf" xlink:type="simple" xlink:href="cshperspectmed-ANG-a009688.pdf"></self-uri><abstract><p>Vascular anomalies are localized abnormalities that occur during vascular development. Several causative genes have been identified not only for inherited but also for some sporadic forms, and the molecular pathways involved are becoming understood. This gives us the opportunity to generate animals carrying the causative genetic defects, which we hope model the phenotype seen in human patients. These models would enable us not only to test known antiangiogenic drugs, but also to develop novel approaches for treatment, directly targeting the mutated protein or molecules implicated in the pathophysiological signaling pathways.</p></abstract><abstract abstract-type="precis"><p>Genetic mutations that cause vascular anomalies have been identified (e.g., <italic>TEK</italic> mutations cause mucocutaneous venous malformation). Animals carrying such genetic defects will be used to develop therapies.</p></abstract><counts><page-count count="21"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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