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.
Anti-HIV activity and resistance profile of the CXC chemokine receptor 4 antagonist POL3026.
Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations.
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.
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.
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.
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.