TY  - JOUR
AU  - Escalera Balsera, Alba
AU  - Robles Bolivar, Paula
AU  - Parra Pérez, Alberto M
AU  - Murillo Cuesta, Silvia
AU  - Chow Chua, Han
AU  - Rodríguez de la Rosa, Lourdes
AU  - Contreras Rodríguez, Julio
AU  - Domarecka, Ewa
AU  - Amor-Dorado, Juan Carlos
AU  - Soto Varela, Andrés
AU  - Varela-Nieto, Isabel
AU  - Szczepek, Agnieszka J
AU  - Gallego Martínez, Álvaro
AU  - López Escámez, José A
PY  - 2025
DO  - 10.1186/s13073-024-01425-1
SN  - 1756-994X
UR  - https://hdl.handle.net/20.500.14352/116942
T2  - Genome Medicine
AB  - Background: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.Methods:We...
LA  - eng
M2  - 1
PB  - BioMed Central
KW  - Meniere’s disease
KW  - Hearing loss
KW  - Inner ear
KW  - Tectorial membrane
KW  - Exome sequencing
KW  - Bioinformatics
KW  - Connexin gene
KW  - Connexin protein
KW  - Protein modeling
KW  - Immunohistofuorescence
TI  - A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly
TY  - journal article
VL  - 17
ER  -