Ontology highlight
ABSTRACT:
SUBMITTER: Marconi C
PROVIDER: S-EPMC3658193 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Marconi Caterina C Brunamonti Binello Paolo P Badiali Giovanni G Caci Emanuela E Cusano Roberto R Garibaldi Joseph J Pippucci Tommaso T Merlini Alberto A Marchetti Claudio C Rhoden Kerry J KJ Galietta Luis J V LJ Lalatta Faustina F Balbi Paolo P Seri Marco M
European journal of human genetics : EJHG 20121010 6
Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by frequent bone fractures at a young age, bowing of tubular bones and cemento-osseus lesions of the jawbones. Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels. However, recent data together with our own experiments reported here add weight to the hypothesis that ANO5 may not function as calcium-activated chloride channel. By sequencing the entire ANO5 gene ...[more]