De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

ATP2B2 encodes the PMCA2 Ca(2+) pump that plays an important role in maintaining ion homeostasis in hair cells among others by extrusion of Ca(2+) from the stereocilia to the endolymph. Several mouse models have been described for this gene; mice heterozygous for loss-of-function defects display a r...

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Publicado no:Hum Genet
Main Authors: Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2018
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6514080/
https://ncbi.nlm.nih.gov/pubmed/30535804
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1965-1
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