Publicaciones
El conocimiento generado en IrsiCaixa se comparte con la comunidad científica a través de la publicación de artículos en revistas científicas de alto impacto.
Efficient and specific transduction of cochlear supporting cells by adeno-associated virus serotype 5.
An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss.
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
Coxsackie adenovirus receptor and alpha nu beta3/alpha nu beta5 integrins in adenovirus gene transfer of rat cochlea.
Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events.
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene.