Source:http://linkedlifedata.com/resource/pubmed/id/19564653
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-1-12
|
| pubmed:abstractText |
The FOXG1 gene has been recently implicated in the congenital form of Rett syndrome (RTT). It encodes the fork-head box protein G1, a winged-helix transcriptional repressor with expression restricted to testis and brain, where it is critical for forebrain development. So far, only two point mutations in FOXG1 have been reported in females affected by the congenital form of RTT. Aim To assess the involvement of FOXG1 in the molecular aetiology of classical RTT and related disorders.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
1468-6244
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
47
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
59-65
|
| pubmed:meshHeading |
pubmed-meshheading:19564653-Child,
pubmed-meshheading:19564653-Female,
pubmed-meshheading:19564653-Forkhead Transcription Factors,
pubmed-meshheading:19564653-Genetic Variation,
pubmed-meshheading:19564653-Humans,
pubmed-meshheading:19564653-Nerve Tissue Proteins,
pubmed-meshheading:19564653-Phenotype,
pubmed-meshheading:19564653-Rett Syndrome,
pubmed-meshheading:19564653-Sequence Deletion,
pubmed-meshheading:19564653-Young Adult
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
|
| pubmed:affiliation |
Laboratoire de Génétique Médicale, Nancy Université, EA 4002, Centre Hospitalier Régional et Universitaire, 54511 cedex 1, Vandoeuvre-les-Nancy, France. c.philippe@chu-nancy.fr
|
| pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|