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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase</title><author><name sortKey="Irrthum, Alexandre" sort="Irrthum, Alexandre" uniqKey="Irrthum A" first="Alexandre" last="Irrthum">Alexandre Irrthum</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karkkainen, Marika J" sort="Karkkainen, Marika J" uniqKey="Karkkainen M" first="Marika J." last="Karkkainen">Marika J. Karkkainen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:aff id="N0x92146e8.0x9474fb0">Center for Human Genetics, Katholieke Universiteit Leuven, Leuven</nlm:aff></affiliation></author><author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name><affiliation><nlm:aff wicri:cut="; and" id="N0x92146e8.0x9474fb0">Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, University of Helsinki, Haartman Institute, Helsinki</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="N0x92146e8.0x9474fb0">Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">10856194</idno><idno type="pmc">1287178</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287178</idno><idno type="RBID">PMC:1287178</idno><date when="2000">2000</date><idno type="wicri:Area/Pmc/Corpus">000032</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000032</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase</title><author><name sortKey="Irrthum, Alexandre" sort="Irrthum, Alexandre" uniqKey="Irrthum A" first="Alexandre" last="Irrthum">Alexandre Irrthum</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Karkkainen, Marika J" sort="Karkkainen, Marika J" uniqKey="Karkkainen M" first="Marika J." last="Karkkainen">Marika J. Karkkainen</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:aff id="N0x92146e8.0x9474fb0">Center for Human Genetics, Katholieke Universiteit Leuven, Leuven</nlm:aff></affiliation></author><author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name><affiliation><nlm:aff wicri:cut="; and" id="N0x92146e8.0x9474fb0">Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, University of Helsinki, Haartman Institute, Helsinki</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="N0x92146e8.0x9474fb0">Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels;</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2000">2000</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as “Milroy disease,” has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, <italic>VEGFR3</italic> (<italic>FLT4</italic>), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of <italic>VEGFR3</italic> in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a <italic>VEGFR3</italic> intragenic polymorphism, and we describe an A→G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.</p></div></front></TEI><pmc article-type="research-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">Am J Hum Genet</journal-id><journal-id journal-id-type="publisher-id">AJHG</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>The American Society of Human Genetics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">10856194</article-id><article-id pub-id-type="pmc">1287178</article-id><article-id pub-id-type="publisher-id">001841</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group></article-categories><title-group><article-title>Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase</article-title><alt-title><italic>VEGFR3</italic> Mutation Causes Lymphedema</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Irrthum</surname><given-names>Alexandre</given-names></name><xref ref-type="fn" rid="FN1">*</xref><xref ref-type="aff" rid="N0x92146e8.0x9474fb0">,1</xref></contrib><contrib contrib-type="author"><name><surname>Karkkainen</surname><given-names>Marika J.</given-names></name><xref ref-type="fn" rid="FN1">*</xref><xref ref-type="aff" rid="N0x92146e8.0x9474fb0">,2</xref></contrib><contrib contrib-type="author"><name><surname>Devriendt</surname><given-names>Koen</given-names></name><xref ref-type="aff" rid="N0x92146e8.0x9474fb0">3</xref></contrib><contrib contrib-type="author"><name><surname>Alitalo</surname><given-names>Kari</given-names></name><xref ref-type="aff" rid="N0x92146e8.0x9474fb0">2</xref></contrib><contrib contrib-type="author"><name><surname>Vikkula</surname><given-names>Miikka</given-names></name><xref ref-type="aff" rid="N0x92146e8.0x9474fb0">1</xref></contrib></contrib-group><aff id="N0x92146e8.0x9474fb0"><sup>1</sup>Laboratory of Human Molecular Genetics, Christian de Duve Institute of Cellular Pathology and Université catholique de Louvain, Brussels;<sup>2</sup>Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, University of Helsinki, Haartman Institute, Helsinki; and<sup>3</sup>Center for Human Genetics, Katholieke Universiteit Leuven, Leuven</aff><author-notes><corresp>Address for correspondence and reprints: Dr. Miikka Vikkula, Laboratory of Human Molecular Genetics, Institute of Cellular Pathology and Université catholique de Louvain, Avenue Hippocrate 75+4, bp 75.39, B-1200 Brussels, Belgium. E-mail: <email>vikkula@bchm.ucl.ac.be</email></corresp><fn id="FN1"><label>*</label><p>These two authors contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><month>8</month><year>2000</year></pub-date><pub-date pub-type="epub"><day>9</day><month>6</month><year>2000</year></pub-date><volume>67</volume><issue>2</issue><fpage>295</fpage><lpage>301</lpage><history><date date-type="received"><day>20</day><month>4</month><year>2000</year></date><date date-type="accepted"><day>10</day><month>5</month><year>2000</year></date></history><copyright-statement>© 2000 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2000</copyright-year><self-uri>10856194</self-uri><abstract><p>Hereditary lymphedema is a chronic swelling of limbs due to dysfunction of lymphatic vessels. An autosomal dominant, congenital form of the disease, also known as “Milroy disease,” has been mapped to the telomeric part of chromosome 5q, in the region 5q34-q35. This region contains a good candidate gene for the disease, <italic>VEGFR3</italic> (<italic>FLT4</italic>), that encodes a receptor tyrosine kinase specific for lymphatic vessels. To clarify the role of <italic>VEGFR3</italic> in the etiology of the disease, we have analyzed a family with hereditary lymphedema. We show linkage of the disease with markers in 5q34-q35, including a <italic>VEGFR3</italic> intragenic polymorphism, and we describe an A→G transition that cosegregates with the disease, corresponding to a histidine-to-arginine substitution in the catalytic loop of the protein. In addition, we show, by in vitro expression, that this mutation inhibits the autophosphorylation of the receptor. Thus, defective VEGFR3 signaling seems to be the cause of congenital hereditary lymphedema linked to 5q34-q35.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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