Linked Life Data

21345367

Source:http://linkedlifedata.com/resource/pubmed/id/21345367

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-5-16
pubmed:abstractText
Hereditary congenital facial paresis (HCFP) consists of the paralysis or weakness of facial muscles caused by a maldevelopment of the facial branchiomotor (FBM) nucleus and its nerve. Linkage analyses have related this disorder to two loci, HCFP1 and HCFP2, placed respectively in human chromosomes 3q21.2-q22.1 and 10q21.3-q22.1, but the causative genes are still unknown. In this work we aimed to identify which genes from these loci are expressed in the developing hindbrain and particularly in the FBM nucleus. To this end, we retrieved from the ENSEMBL genomic database the list of these genes as well as their respective mouse orthologs. Subsequently we examined their respective expression patterns in the mouse embryo by using the GenePaint gene expression database. As a result of this screening, we found a new gene (Mgll) from the HCFP1 locus that has strong and specific expression in the developing FBM nucleus. In its turn, the HCFP2 locus appeared as a large gene-desert region, flanked by two genes, Reep3, with specific expression in the FBM nucleus, and Lrrtm3, broadly expressed in the brainstem, including the same nucleus. The concurrence of genomic position and neural expression pattern makes these genes new potential candidates for HCFP.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1873-474X
pubmed:author
pubmed:copyrightInfo
Copyright © 2011 ISDN. Published by Elsevier Ltd. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
451-60
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
In silico identification of new candidate genes for hereditary congenital facial paresis.
pubmed:affiliation
Department of Human Anatomy and Psychobiology, School of Medicine, University of Murcia, Murcia, Spain. laura.t.r@um.es
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't