Novel POU3F4 variants identified in patients with inner ear malformations exhibit aberrant cellular distribution and lack of SLC6A20 transcriptional upregulation

Hearing loss (HL) is the most common sensory defect and affects 450 million people worldwide in a disabling form. Pathogenic sequence alterations in the POU3F4 gene, which encodes a transcription factor, are causative of the most common type of X-linked deafness (X-linked deafness type 3, DFN3, DFNX...

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Detalles Bibliográficos
Autores principales: Bernardinelli, Emanuele, Roesch, Sebastian, Simoni, Edi, Marino, Angela, Rasp, Gerd, Astolfi, Laura, Sarikas, Antonio, Dossena, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558712/
https://www.ncbi.nlm.nih.gov/pubmed/36245926
http://dx.doi.org/10.3389/fnmol.2022.999833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558712/
https://www.ncbi.nlm.nih.gov/pubmed/36245926
http://dx.doi.org/10.3389/fnmol.2022.999833

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