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- W4317780740 abstract "Diaphanous related formins are regulatory cytoskeletal protein involved in actin elongation and microtubule stabilization. In humans, defects in two of the three diaphanous genes ( DIAPH1 and DIAPH3 ) have been associated with different types of hearing loss. Here, we investigate the role of the third member of the family, DIAPH2 , in nonsyndromic hearing loss, prompted by the identification, by exome sequencing, of a predicted pathogenic missense variant in DIAPH2 . This variant occurs at a conserved site and segregated with nonsyndromic X-linked hearing loss in an Italian family. Our immunohistochemical studies indicated that the mouse ortholog protein Diaph2 is expressed during development in the cochlea, specifically in the actin-rich stereocilia of the sensory outer hair cells. In-vitro studies showed a functional impairment of the mutant DIAPH2 protein upon RhoA-dependent activation. Finally, Diaph2 knock-out and knock-in mice were generated by CRISPR/Cas9 technology and auditory brainstem response measurements performed at 4, 8 and 14 weeks. However, no hearing impairment was detected. Our findings indicate that DIAPH2 may play a role in the inner ear; further studies are however needed to clarify the contribution of DIAPH2 to deafness." @default.
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- W4317780740 date "2023-01-23" @default.
- W4317780740 modified "2023-10-14" @default.
- W4317780740 title "In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear" @default.
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- W4317780740 doi "https://doi.org/10.1371/journal.pone.0273586" @default.
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