Complete omission of exon 21 from Slc12a2 transcripts in mice results in hearing loss

Abstract Hereditary hearing loss is highly heterogeneous. SLC12A2 is linked to autosomal dominant nonsyndromic hearing loss, DFNA78, with all the pathogenic variants affecting the exon 21. The gene encodes a cotransporter NKCC1 crucial for regulating intracellular osmotic pressure and producing endo...

Descrición completa

Detalles Bibliográficos

Principais autores:	Hideki Mutai, Yukiko Kuroda, Shinobu Noji, Saki Ichikawa, Koichi Matsuo, Satoshi Tanaka, Naoyuki Kataoka, Masato Fujioka, Tatsuo Matsunaga
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2025-04-01
Series:	Scientific Reports
Assuntos:	Hereditary hearing loss Mouse model Splicing
Acceso en liña:	https://doi.org/10.1038/s41598-025-99827-7
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!