Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.
Identifieur interne : 002C55 ( PubMed/Checkpoint ); précédent : 002C54; suivant : 002C56Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.
Auteurs : Valerie L R M. Verstraeten ; Wolfgang Holnthoner ; Maurice A M. Van Steensel ; Joep C J M. Veraart ; Reno S. Bladergroen ; Caroline A. Heckman ; Salla Keskitalo ; Jorge Frank ; Kari Alitalo [Finlande] ; Michel Van Geel ; Peter M. SteijlenSource :
- The Journal of investigative dermatology [ 1523-1747 ] ; 2009.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- genetics : Lymphedema.
- Child, Family Health, Female, Humans, Infant, Male, Pedigree, Point Mutation.
DOI: 10.1038/jid.2008.246
PubMed: 18719607
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:18719607Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.</title>
<author><name sortKey="Verstraeten, Valerie L R M" sort="Verstraeten, Valerie L R M" uniqKey="Verstraeten V" first="Valerie L R M" last="Verstraeten">Valerie L R M. Verstraeten</name>
</author>
<author><name sortKey="Holnthoner, Wolfgang" sort="Holnthoner, Wolfgang" uniqKey="Holnthoner W" first="Wolfgang" last="Holnthoner">Wolfgang Holnthoner</name>
</author>
<author><name sortKey="Van Steensel, Maurice A M" sort="Van Steensel, Maurice A M" uniqKey="Van Steensel M" first="Maurice A M" last="Van Steensel">Maurice A M. Van Steensel</name>
</author>
<author><name sortKey="Veraart, Joep C J M" sort="Veraart, Joep C J M" uniqKey="Veraart J" first="Joep C J M" last="Veraart">Joep C J M. Veraart</name>
</author>
<author><name sortKey="Bladergroen, Reno S" sort="Bladergroen, Reno S" uniqKey="Bladergroen R" first="Reno S" last="Bladergroen">Reno S. Bladergroen</name>
</author>
<author><name sortKey="Heckman, Caroline A" sort="Heckman, Caroline A" uniqKey="Heckman C" first="Caroline A" last="Heckman">Caroline A. Heckman</name>
</author>
<author><name sortKey="Keskitalo, Salla" sort="Keskitalo, Salla" uniqKey="Keskitalo S" first="Salla" last="Keskitalo">Salla Keskitalo</name>
</author>
<author><name sortKey="Frank, Jorge" sort="Frank, Jorge" uniqKey="Frank J" first="Jorge" last="Frank">Jorge Frank</name>
</author>
<author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
<affiliation><country>Finlande</country>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
<orgName type="university">Université d'Helsinki</orgName>
</affiliation>
</author>
<author><name sortKey="Van Geel, Michel" sort="Van Geel, Michel" uniqKey="Van Geel M" first="Michel" last="Van Geel">Michel Van Geel</name>
</author>
<author><name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M" last="Steijlen">Peter M. Steijlen</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2009">2009</date>
<idno type="RBID">pubmed:18719607</idno>
<idno type="pmid">18719607</idno>
<idno type="doi">10.1038/jid.2008.246</idno>
<idno type="wicri:Area/PubMed/Corpus">003168</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003168</idno>
<idno type="wicri:Area/PubMed/Curation">003168</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003168</idno>
<idno type="wicri:Area/PubMed/Checkpoint">003168</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003168</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.</title>
<author><name sortKey="Verstraeten, Valerie L R M" sort="Verstraeten, Valerie L R M" uniqKey="Verstraeten V" first="Valerie L R M" last="Verstraeten">Valerie L R M. Verstraeten</name>
</author>
<author><name sortKey="Holnthoner, Wolfgang" sort="Holnthoner, Wolfgang" uniqKey="Holnthoner W" first="Wolfgang" last="Holnthoner">Wolfgang Holnthoner</name>
</author>
<author><name sortKey="Van Steensel, Maurice A M" sort="Van Steensel, Maurice A M" uniqKey="Van Steensel M" first="Maurice A M" last="Van Steensel">Maurice A M. Van Steensel</name>
</author>
<author><name sortKey="Veraart, Joep C J M" sort="Veraart, Joep C J M" uniqKey="Veraart J" first="Joep C J M" last="Veraart">Joep C J M. Veraart</name>
</author>
<author><name sortKey="Bladergroen, Reno S" sort="Bladergroen, Reno S" uniqKey="Bladergroen R" first="Reno S" last="Bladergroen">Reno S. Bladergroen</name>
</author>
<author><name sortKey="Heckman, Caroline A" sort="Heckman, Caroline A" uniqKey="Heckman C" first="Caroline A" last="Heckman">Caroline A. Heckman</name>
</author>
<author><name sortKey="Keskitalo, Salla" sort="Keskitalo, Salla" uniqKey="Keskitalo S" first="Salla" last="Keskitalo">Salla Keskitalo</name>
</author>
<author><name sortKey="Frank, Jorge" sort="Frank, Jorge" uniqKey="Frank J" first="Jorge" last="Frank">Jorge Frank</name>
</author>
<author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
<affiliation><country>Finlande</country>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
<orgName type="university">Université d'Helsinki</orgName>
</affiliation>
</author>
<author><name sortKey="Van Geel, Michel" sort="Van Geel, Michel" uniqKey="Van Geel M" first="Michel" last="Van Geel">Michel Van Geel</name>
</author>
<author><name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M" last="Steijlen">Peter M. Steijlen</name>
</author>
</analytic>
<series><title level="j">The Journal of investigative dermatology</title>
<idno type="eISSN">1523-1747</idno>
<imprint><date when="2009" type="published">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Lymphedema (genetics)</term>
<term>Male</term>
<term>Pedigree</term>
<term>Point Mutation</term>
<term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Lymphoedème (génétique)</term>
<term>Mutation ponctuelle</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pedigree</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term>
<term>Santé de la famille</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Child</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Pedigree</term>
<term>Point Mutation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Enfant</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation ponctuelle</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pedigree</term>
<term>Santé de la famille</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">18719607</PMID>
<DateCreated><Year>2009</Year>
<Month>01</Month>
<Day>16</Day>
</DateCreated>
<DateCompleted><Year>2009</Year>
<Month>02</Month>
<Day>27</Day>
</DateCompleted>
<DateRevised><Year>2009</Year>
<Month>11</Month>
<Day>19</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1523-1747</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>129</Volume>
<Issue>2</Issue>
<PubDate><Year>2009</Year>
<Month>Feb</Month>
</PubDate>
</JournalIssue>
<Title>The Journal of investigative dermatology</Title>
<ISOAbbreviation>J. Invest. Dermatol.</ISOAbbreviation>
</Journal>
<ArticleTitle>Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema.</ArticleTitle>
<Pagination><MedlinePgn>509-12</MedlinePgn>
</Pagination>
<ELocationID EIdType="doi" ValidYN="Y">10.1038/jid.2008.246</ELocationID>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Verstraeten</LastName>
<ForeName>Valerie L R M</ForeName>
<Initials>VL</Initials>
</Author>
<Author ValidYN="Y"><LastName>Holnthoner</LastName>
<ForeName>Wolfgang</ForeName>
<Initials>W</Initials>
</Author>
<Author ValidYN="Y"><LastName>van Steensel</LastName>
<ForeName>Maurice A M</ForeName>
<Initials>MA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Veraart</LastName>
<ForeName>Joep C J M</ForeName>
<Initials>JC</Initials>
</Author>
<Author ValidYN="Y"><LastName>Bladergroen</LastName>
<ForeName>Reno S</ForeName>
<Initials>RS</Initials>
</Author>
<Author ValidYN="Y"><LastName>Heckman</LastName>
<ForeName>Caroline A</ForeName>
<Initials>CA</Initials>
</Author>
<Author ValidYN="Y"><LastName>Keskitalo</LastName>
<ForeName>Salla</ForeName>
<Initials>S</Initials>
</Author>
<Author ValidYN="Y"><LastName>Frank</LastName>
<ForeName>Jorge</ForeName>
<Initials>J</Initials>
</Author>
<Author ValidYN="Y"><LastName>Alitalo</LastName>
<ForeName>Kari</ForeName>
<Initials>K</Initials>
</Author>
<Author ValidYN="Y"><LastName>van Geel</LastName>
<ForeName>Michel</ForeName>
<Initials>M</Initials>
</Author>
<Author ValidYN="Y"><LastName>Steijlen</LastName>
<ForeName>Peter M</ForeName>
<Initials>PM</Initials>
</Author>
</AuthorList>
<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType>
<PublicationType UI="D016422">Letter</PublicationType>
<PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2008</Year>
<Month>08</Month>
<Day>21</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>J Invest Dermatol</MedlineTA>
<NlmUniqueID>0426720</NlmUniqueID>
<ISSNLinking>0022-202X</ISSNLinking>
</MedlineJournalInfo>
<ChemicalList><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber>
<NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor Receptor-3</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
<MeshHeadingList><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005192" MajorTopicYN="N">Family Health</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D017354" MajorTopicYN="Y">Point Mutation</DescriptorName>
</MeshHeading>
<MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName>
<QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName>
</MeshHeading>
</MeshHeadingList>
</MedlineCitation>
<PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2008</Year>
<Month>8</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="medline"><Year>2009</Year>
<Month>2</Month>
<Day>28</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
<PubMedPubDate PubStatus="entrez"><Year>2008</Year>
<Month>8</Month>
<Day>23</Day>
<Hour>9</Hour>
<Minute>0</Minute>
</PubMedPubDate>
</History>
<PublicationStatus>ppublish</PublicationStatus>
<ArticleIdList><ArticleId IdType="pubmed">18719607</ArticleId>
<ArticleId IdType="pii">S0022-202X(15)34200-7</ArticleId>
<ArticleId IdType="doi">10.1038/jid.2008.246</ArticleId>
</ArticleIdList>
</PubmedData>
</pubmed>
<affiliations><list><country><li>Finlande</li>
</country>
<region><li>Uusimaa</li>
</region>
<settlement><li>Helsinki</li>
</settlement>
<orgName><li>Université d'Helsinki</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Bladergroen, Reno S" sort="Bladergroen, Reno S" uniqKey="Bladergroen R" first="Reno S" last="Bladergroen">Reno S. Bladergroen</name>
<name sortKey="Frank, Jorge" sort="Frank, Jorge" uniqKey="Frank J" first="Jorge" last="Frank">Jorge Frank</name>
<name sortKey="Heckman, Caroline A" sort="Heckman, Caroline A" uniqKey="Heckman C" first="Caroline A" last="Heckman">Caroline A. Heckman</name>
<name sortKey="Holnthoner, Wolfgang" sort="Holnthoner, Wolfgang" uniqKey="Holnthoner W" first="Wolfgang" last="Holnthoner">Wolfgang Holnthoner</name>
<name sortKey="Keskitalo, Salla" sort="Keskitalo, Salla" uniqKey="Keskitalo S" first="Salla" last="Keskitalo">Salla Keskitalo</name>
<name sortKey="Steijlen, Peter M" sort="Steijlen, Peter M" uniqKey="Steijlen P" first="Peter M" last="Steijlen">Peter M. Steijlen</name>
<name sortKey="Van Geel, Michel" sort="Van Geel, Michel" uniqKey="Van Geel M" first="Michel" last="Van Geel">Michel Van Geel</name>
<name sortKey="Van Steensel, Maurice A M" sort="Van Steensel, Maurice A M" uniqKey="Van Steensel M" first="Maurice A M" last="Van Steensel">Maurice A M. Van Steensel</name>
<name sortKey="Veraart, Joep C J M" sort="Veraart, Joep C J M" uniqKey="Veraart J" first="Joep C J M" last="Veraart">Joep C J M. Veraart</name>
<name sortKey="Verstraeten, Valerie L R M" sort="Verstraeten, Valerie L R M" uniqKey="Verstraeten V" first="Valerie L R M" last="Verstraeten">Valerie L R M. Verstraeten</name>
</noCountry>
<country name="Finlande"><region name="Uusimaa"><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
</region>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002C55 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 002C55 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= LymphedemaV1 |flux= PubMed |étape= Checkpoint |type= RBID |clé= pubmed:18719607 |texte= Functional analysis of FLT4 mutations associated with Nonne-Milroy lymphedema. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:18719607" \ | HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \ | NlmPubMed2Wicri -a LymphedemaV1
![]() | This area was generated with Dilib version V0.6.31. | ![]() |