Document Detail


Nucleocytoplasmic connections and deafness.
MedLine Citation:
PMID:  23348730     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The linker of nucleoskeleton and cytoskeleton (LINC) complex connects the nuclear lamina to the cytoskeleton, in part to aid in nuclear positioning. Mutations in genes encoding LINC complex and lamina components cause a range of human diseases. In this issue of the JCI, Horn et al. report that mutations in the gene SYNE4 encoding the LINC complex protein nesprin-4 lead to progressive high-frequency hearing loss. Further, in mice deficient in nesprin-4 and Sun1, another LINC complex component, outer hair cells of the cochlea form normally during development, but die in the early postnatal weeks. These results link improper nuclear positioning specifically to the death of outer hair cells in the organ of Corti and ultimately to deafness.
Authors:
Howard J Worman; Neil Segil
Publication Detail:
Type:  Comment; Journal Article; Research Support, N.I.H., Extramural     Date:  2013-01-25
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  123     ISSN:  1558-8238     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-04-19     Completed Date:  2013-05-13     Revised Date:  2014-01-09    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  553-5     Citation Subset:  AIM; IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Animals
Female
Hearing / physiology*
Humans
Male
Multiprotein Complexes / physiology*
Grant Support
ID/Acronym/Agency:
HD070713/HD/NICHD NIH HHS; NS059352/NS/NINDS NIH HHS
Chemical
Reg. No./Substance:
0/Multiprotein Complexes
Comments/Corrections
Comment On:
J Clin Invest. 2013 Feb 1;123(2):740-50   [PMID:  23348741 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Andean and Tibetan patterns of adaptation to high altitude.
Next Document:  Ubiquitylation and the pathogenesis of hypertension.