Forkhead genes and human disease.
Identifieur interne : 001722 ( Ncbi/Merge ); précédent : 001721; suivant : 001723Forkhead genes and human disease.
Auteurs : R P Erickson [États-Unis]Source :
- Journal of applied genetics [ 1234-1983 ] ; 2001.
Abstract
Forkhead, or Fox-box genes, code for winged helix transcription factors that make up a multi-gene family. Two human genetic diseases have recently been associated with loss of function of one allele of different Fox-box genes: Axenfeld-Rieger anomaly of the anterior eye chamber associated with haploinsufficiency of FOXC1 and lymphedema-distichiasis associated with haploinsufficiency of FOXC2. Earlier, both genes had been studied intensively for their transcription patterns and for the phenotypes of knockouts. These studies are reviewed and related to the phenotypes found in the two human disorders.
PubMed: 14564054
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 004150
- to stream PubMed, to step Curation: 004150
- to stream PubMed, to step Checkpoint: 004150
Links to Exploration step
pubmed:14564054Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Forkhead genes and human disease.</title><author><name sortKey="Erickson, R P" sort="Erickson, R P" uniqKey="Erickson R" first="R P" last="Erickson">R P Erickson</name><affiliation wicri:level="1"><nlm:affiliation>Angel Charity for Children, Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA. erickson@peds.arizona.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Angel Charity for Children, Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson</wicri:regionArea><wicri:noRegion>Tucson</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:14564054</idno><idno type="pmid">14564054</idno><idno type="wicri:Area/PubMed/Corpus">004150</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004150</idno><idno type="wicri:Area/PubMed/Curation">004150</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">004150</idno><idno type="wicri:Area/PubMed/Checkpoint">004150</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">004150</idno><idno type="wicri:Area/Ncbi/Merge">001722</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Forkhead genes and human disease.</title><author><name sortKey="Erickson, R P" sort="Erickson, R P" uniqKey="Erickson R" first="R P" last="Erickson">R P Erickson</name><affiliation wicri:level="1"><nlm:affiliation>Angel Charity for Children, Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA. erickson@peds.arizona.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Angel Charity for Children, Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson</wicri:regionArea><wicri:noRegion>Tucson</wicri:noRegion></affiliation></author></analytic><series><title level="j">Journal of applied genetics</title><idno type="ISSN">1234-1983</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Forkhead, or Fox-box genes, code for winged helix transcription factors that make up a multi-gene family. Two human genetic diseases have recently been associated with loss of function of one allele of different Fox-box genes: Axenfeld-Rieger anomaly of the anterior eye chamber associated with haploinsufficiency of FOXC1 and lymphedema-distichiasis associated with haploinsufficiency of FOXC2. Earlier, both genes had been studied intensively for their transcription patterns and for the phenotypes of knockouts. These studies are reviewed and related to the phenotypes found in the two human disorders.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">14564054</PMID><DateCreated><Year>2003</Year><Month>10</Month><Day>17</Day></DateCreated><DateCompleted><Year>2004</Year><Month>03</Month><Day>15</Day></DateCompleted><DateRevised><Year>2003</Year><Month>10</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">1234-1983</ISSN><JournalIssue CitedMedium="Print"><Volume>42</Volume><Issue>2</Issue><PubDate><Year>2001</Year></PubDate></JournalIssue><Title>Journal of applied genetics</Title><ISOAbbreviation>J. Appl. Genet.</ISOAbbreviation></Journal><ArticleTitle>Forkhead genes and human disease.</ArticleTitle><Pagination><MedlinePgn>211-21</MedlinePgn></Pagination><Abstract><AbstractText>Forkhead, or Fox-box genes, code for winged helix transcription factors that make up a multi-gene family. Two human genetic diseases have recently been associated with loss of function of one allele of different Fox-box genes: Axenfeld-Rieger anomaly of the anterior eye chamber associated with haploinsufficiency of FOXC1 and lymphedema-distichiasis associated with haploinsufficiency of FOXC2. Earlier, both genes had been studied intensively for their transcription patterns and for the phenotypes of knockouts. These studies are reviewed and related to the phenotypes found in the two human disorders.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Erickson</LastName><ForeName>R P</ForeName><Initials>RP</Initials><AffiliationInfo><Affiliation>Angel Charity for Children, Wings for Genetic Research, Steele Memorial Children's Research Center, Department of Pediatrics, University of Arizona College of Medicine, Tucson, USA. erickson@peds.arizona.edu</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Appl Genet</MedlineTA><NlmUniqueID>9514582</NlmUniqueID><ISSNLinking>1234-1983</ISSNLinking></MedlineJournalInfo></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>10</Month><Day>18</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>10</Month><Day>18</Day><Hour>5</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>10</Month><Day>18</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">14564054</ArticleId><ArticleId IdType="pii">41</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><country name="États-Unis"><noRegion><name sortKey="Erickson, R P" sort="Erickson, R P" uniqKey="Erickson R" first="R P" last="Erickson">R P Erickson</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Ncbi/Merge
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001722 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd -nk 001722 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Ncbi
|étape= Merge
|type= RBID
|clé= pubmed:14564054
|texte= Forkhead genes and human disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Merge/RBID.i -Sk "pubmed:14564054" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Merge/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |