A novel mutation in CELSR1 is associated with hereditary lymphedema
Identifieur interne : 001500 ( Main/Exploration ); précédent : 001499; suivant : 001501A novel mutation in CELSR1 is associated with hereditary lymphedema
Auteurs : M. L. Gonzalez-Garay [États-Unis] ; M. B. Aldrich [États-Unis] ; J. C. Rasmussen [États-Unis] ; R. Guilliod [États-Unis] ; P. E. Lapinski [États-Unis] ; P. D. King [États-Unis] ; E. M. Sevick-Muraca [États-Unis]Source :
- Vascular Cell [ 2045-824X ] ; 2016.
Abstract
Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in
In this report, a rare early inactivating mutation in
The online version of this article (doi:10.1186/s13221-016-0035-5) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s13221-016-0035-5
PubMed: 26855770
PubMed Central: 4743364
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel mutation in <italic>CELSR1</italic> is associated with hereditary lymphedema</title><author><name sortKey="Gonzalez Garay, M L" sort="Gonzalez Garay, M L" uniqKey="Gonzalez Garay M" first="M. L." last="Gonzalez-Garay">M. L. Gonzalez-Garay</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Aldrich, M B" sort="Aldrich, M B" uniqKey="Aldrich M" first="M. B." last="Aldrich">M. B. Aldrich</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Rasmussen, J C" sort="Rasmussen, J C" uniqKey="Rasmussen J" first="J. C." last="Rasmussen">J. C. Rasmussen</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Guilliod, R" sort="Guilliod, R" uniqKey="Guilliod R" first="R." last="Guilliod">R. 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L." last="Gonzalez-Garay">M. L. Gonzalez-Garay</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Aldrich, M B" sort="Aldrich, M B" uniqKey="Aldrich M" first="M. B." last="Aldrich">M. B. Aldrich</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Rasmussen, J C" sort="Rasmussen, J C" uniqKey="Rasmussen J" first="J. C." last="Rasmussen">J. C. Rasmussen</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Guilliod, R" sort="Guilliod, R" uniqKey="Guilliod R" first="R." last="Guilliod">R. Guilliod</name><affiliation wicri:level="2"><nlm:aff id="Aff2">Memorial Herman Hospital and The University of Texas Health Science Center, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Memorial Herman Hospital and The University of Texas Health Science Center, Houston</wicri:cityArea></affiliation></author><author><name sortKey="Lapinski, P E" sort="Lapinski, P E" uniqKey="Lapinski P" first="P. E." last="Lapinski">P. E. Lapinski</name><affiliation wicri:level="2"><nlm:aff id="Aff3">Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI 48109 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="King, P D" sort="King, P D" uniqKey="King P" first="P. D." last="King">P. D. King</name><affiliation wicri:level="2"><nlm:aff id="Aff3">Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor, MI 48109 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Microbiology and Immunology, University of Michigan Medical School, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Sevick Muraca, E M" sort="Sevick Muraca, E M" uniqKey="Sevick Muraca E" first="E. M." last="Sevick-Muraca">E. M. Sevick-Muraca</name><affiliation wicri:level="2"><nlm:aff id="Aff1">Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston, TX 77030 USA</nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Center for Molecular Imaging, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, 1825 Pressler Street, SRB330A, Houston</wicri:cityArea></affiliation></author></analytic><series><title level="j">Vascular Cell</title><idno type="eISSN">2045-824X</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in <italic>CELSR1</italic> associated with lymphatic dysfunction in humans.</p></sec><sec><title>Case Presentation</title><p>In this report, a rare early inactivating mutation in <italic>CELSR1</italic> is found to be causal for non-syndromic, lower extremity lymphedema in a family across three generations. Near-infrared fluorescence lymphatic imaging shows that instead of being propelled within the lumen of well-defined lymphatic vessels, lymph moved in regions of both legs in an unusual fashion and within sheet-like structures.</p></sec><sec><title>Conclusion</title><p><italic>CELSRI</italic> may be responsible for primary, non-syndromic lymphedema in humans.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1186/s13221-016-0035-5) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Mortimer, Ps" uniqKey="Mortimer P">PS Mortimer</name></author><author><name sortKey="Rockson, Sg" uniqKey="Rockson S">SG Rockson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ferrell, Re" uniqKey="Ferrell R">RE Ferrell</name></author><author><name sortKey="Levinson, Kl" 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sortKey="Diekhans, M" uniqKey="Diekhans M">M Diekhans</name></author><author><name sortKey="Dreszer, Tr" uniqKey="Dreszer T">TR Dreszer</name></author><author><name sortKey="Fujita, Pa" uniqKey="Fujita P">PA Fujita</name></author><author><name sortKey="Guruvadoo, L" uniqKey="Guruvadoo L">L Guruvadoo</name></author><author><name sortKey="Haeussler, M" uniqKey="Haeussler M">M Haeussler</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Halbleib, Jm" uniqKey="Halbleib J">JM Halbleib</name></author><author><name sortKey="Nelson, Wj" uniqKey="Nelson W">WJ Nelson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kimura, H" uniqKey="Kimura H">H Kimura</name></author><author><name sortKey="Usui, T" uniqKey="Usui T">T Usui</name></author><author><name sortKey="Tsubouchi, A" uniqKey="Tsubouchi A">A Tsubouchi</name></author><author><name sortKey="Uemura, T" uniqKey="Uemura T">T Uemura</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Formstone, Cj" uniqKey="Formstone C">CJ Formstone</name></author><author><name sortKey="Little, Pf" uniqKey="Little P">PF Little</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Allache, R" uniqKey="Allache R">R Allache</name></author><author><name sortKey="De Marco, P" uniqKey="De Marco P">P De Marco</name></author><author><name sortKey="Merello, E" uniqKey="Merello E">E Merello</name></author><author><name sortKey="Capra, V" uniqKey="Capra V">V Capra</name></author><author><name sortKey="Kibar, Z" uniqKey="Kibar Z">Z Kibar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lei, Y" uniqKey="Lei Y">Y Lei</name></author><author><name sortKey="Zhu, H" uniqKey="Zhu H">H Zhu</name></author><author><name sortKey="Yang, W" uniqKey="Yang W">W Yang</name></author><author><name sortKey="Ross, Me" uniqKey="Ross M">ME Ross</name></author><author><name sortKey="Shaw, Gm" uniqKey="Shaw G">GM Shaw</name></author><author><name sortKey="Finnell, Rh" uniqKey="Finnell R">RH Finnell</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Tatin, F" uniqKey="Tatin F">F Tatin</name></author><author><name sortKey="Taddei, A" uniqKey="Taddei A">A Taddei</name></author><author><name sortKey="Weston, A" uniqKey="Weston A">A Weston</name></author><author><name sortKey="Fuchs, E" uniqKey="Fuchs E">E Fuchs</name></author><author><name sortKey="Devenport, D" uniqKey="Devenport D">D Devenport</name></author><author><name sortKey="Tissir, F" uniqKey="Tissir F">F Tissir</name></author><author><name sortKey="Makinen, T" uniqKey="Makinen T">T Makinen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Agollah, Gd" uniqKey="Agollah G">GD Agollah</name></author><author><name sortKey="Gonzalez Garay, Ml" uniqKey="Gonzalez Garay M">ML Gonzalez-Garay</name></author><author><name sortKey="Rasmussen, Jc" uniqKey="Rasmussen J">JC Rasmussen</name></author><author><name sortKey="Tan, Ic" uniqKey="Tan I">IC Tan</name></author><author><name sortKey="Aldrich, Mb" uniqKey="Aldrich M">MB Aldrich</name></author><author><name sortKey="Darne, C" uniqKey="Darne C">C Darne</name></author><author><name sortKey="Fife, Ce" uniqKey="Fife C">CE Fife</name></author><author><name sortKey="Guilliod, R" uniqKey="Guilliod R">R Guilliod</name></author><author><name sortKey="Maus, Ea" uniqKey="Maus E">EA Maus</name></author><author><name sortKey="King, Pd" uniqKey="King P">PD King</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Michigan</li><li>Texas</li></region></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Gonzalez Garay, M L" sort="Gonzalez Garay, M L" uniqKey="Gonzalez Garay M" first="M. L." last="Gonzalez-Garay">M. L. Gonzalez-Garay</name></region><name sortKey="Aldrich, M B" sort="Aldrich, M B" uniqKey="Aldrich M" first="M. B." last="Aldrich">M. B. Aldrich</name><name sortKey="Guilliod, R" sort="Guilliod, R" uniqKey="Guilliod R" first="R." last="Guilliod">R. Guilliod</name><name sortKey="King, P D" sort="King, P D" uniqKey="King P" first="P. D." last="King">P. D. King</name><name sortKey="Lapinski, P E" sort="Lapinski, P E" uniqKey="Lapinski P" first="P. E." last="Lapinski">P. E. Lapinski</name><name sortKey="Rasmussen, J C" sort="Rasmussen, J C" uniqKey="Rasmussen J" first="J. C." last="Rasmussen">J. C. Rasmussen</name><name sortKey="Sevick Muraca, E M" sort="Sevick Muraca, E M" uniqKey="Sevick Muraca E" first="E. M." last="Sevick-Muraca">E. M. Sevick-Muraca</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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