A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin...
A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly
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Author / Creator
Escalera-Balsera, Alba , Robles-Bolivar, Paula , Parra-Perez, Alberto M , Murillo-Cuesta, Silvia , Chua, Han Chow , Rodríguez-de la Rosa, Lourdes , Contreras, Julio , Domarecka, Ewa , Amor-Dorado, Juan Carlos , Soto-Varela, Andrés , Varela-Nieto, Isabel , Szczepek, Agnieszka J , Gallego-Martinez, Alvaro and Lopez-Escamez, Jose A
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Familial Meniere's disease (FMD) is a rare polygenic disorder of the inner ear. Mutations in the connexin gene family, which encodes gap junction proteins, can also cause hearing loss, but their role in FMD is largely unknown.
We retrieved exome sequencing data from 94 individuals in 70 Meniere's disease (MD) families. Through gene burden analys...
Alternative Titles
Full title
A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly
Authors, Artists and Contributors
Author / Creator
Robles-Bolivar, Paula
Parra-Perez, Alberto M
Murillo-Cuesta, Silvia
Chua, Han Chow
Rodríguez-de la Rosa, Lourdes
Contreras, Julio
Domarecka, Ewa
Amor-Dorado, Juan Carlos
Soto-Varela, Andrés
Varela-Nieto, Isabel
Szczepek, Agnieszka J
Gallego-Martinez, Alvaro
Lopez-Escamez, Jose A
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_18c22a7040af4895b3360f5644fe13f6
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_18c22a7040af4895b3360f5644fe13f6
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-024-01425-1
