Linked Life Data

11709536

Source:http://linkedlifedata.com/resource/pubmed/id/11709536

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
22
pubmed:dateCreated
2001-11-15
pubmed:abstractText
Missense mutations in the COCH gene, which is expressed preferentially at high levels in the inner ear, cause the autosomal dominant sensorineural deafness and vestibular disorder, DFNA9 (OMIM 601369). By in situ hybridization of mouse and human inner ear sections, we find high-level expression of COCH mRNA in the fibrocytes of the spiral limbus and of the spiral ligament in the cochlea, and in the fibrocytes of the connective tissue stroma underlying the sensory epithelium of the crista ampullaris of the semicircular canals. A polyclonal antibody against the human COCH protein product, cochlin, was raised against the N-terminal 135 amino acid residues of cochlin, corresponding to the Limulus factor C-homology (cochFCH) domain; this domain harbors all five known point mutations in DFNA9. On western blots of human fetal cochlear extracts, anti-cochlin reacts with a cochlin band of the predicted full-length size as well as a smaller isoform. Immunohistochemistry performed with anti-cochlin shows staining predominantly in the regions of the fibrocytes of the spiral limbus and of the spiral ligament in mouse and in human fetal and adult tissue sections. These sites correspond to those areas that express COCH mRNA as determined by in situ hybridization, and to the regions of the inner ear which show histological abnormalities in DFNA9. The fibrocytes expressing mRNA and protein products of COCH are the very cell types which are either absent or markedly reduced and replaced by eosinophilic acellular material in temporal bone sections of individuals affected with DFNA9.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0964-6906
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2493-500
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:11709536-Adult, pubmed-meshheading:11709536-Animals, pubmed-meshheading:11709536-Antibodies, Monoclonal, pubmed-meshheading:11709536-Blotting, Western, pubmed-meshheading:11709536-Ear, Inner, pubmed-meshheading:11709536-Extracellular Matrix Proteins, pubmed-meshheading:11709536-Gene Expression, pubmed-meshheading:11709536-Gene Expression Regulation, Developmental, pubmed-meshheading:11709536-Hearing Loss, Sensorineural, pubmed-meshheading:11709536-Humans, pubmed-meshheading:11709536-Immunohistochemistry, pubmed-meshheading:11709536-In Situ Hybridization, pubmed-meshheading:11709536-Mice, pubmed-meshheading:11709536-Mutation, pubmed-meshheading:11709536-Proteins, pubmed-meshheading:11709536-RNA, Messenger, pubmed-meshheading:11709536-Tissue Distribution, pubmed-meshheading:11709536-Vestibular Diseases
pubmed:year
2001
pubmed:articleTitle
Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.
pubmed:affiliation
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.