Asset Details

MbrlCatalogueTitleDetail

Do you wish to reserve the book?

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

by Caetano, Susana , Soldà, Giulia , Robusto, Michela , Chiereghin, Chiara , Castorina, Pierangela , Duga, Stefano , Massa, Valentina , Ambrosetti, Umberto , Steel, Karen P. , Asselta, Rosanna , Lewis, Morag A.

in Actin / Actins / Animals / Audiometry / Auditory defects / Biology and Life Sciences / Brain stem / Cochlea / CRISPR / Cytoskeletal proteins / Cytoskeleton / Deafness / Development and progression / Ear / Elongation / Formins - metabolism / Genes / Genetic aspects / Genetic variation / Genomes / Hair cells / Hair Cells, Auditory, Outer - metabolism / Health aspects / Hearing Loss / Humans / Impairment / Inner ear / Labyrinth (Ear) / Medical research / Medicine and Health Sciences / Medicine, Experimental / Mice / Mutation / Outer hair cells / People and Places / Proteins / Research and Analysis Methods / RhoA protein

2023

Yes Please

Hey, we have placed the reservation for you!

By the way, why not check out events that you can attend while you pick your title.

Oops! Something went wrong.

Looks like we were not able to place the reservation. Kindly try again later.

Are you sure you want to remove the book from the shelf?

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

2023

Confirm

Do you wish to request the book?

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

2023

Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy

How would you like to get it?

Submit

We have requested the book for you!

Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.

Oops! Something went wrong.

Looks like we were not able to place your request. Kindly try again later.

Journal Article

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

Caetano, Susana,

Soldà, Giulia,

Robusto, Michela,

Chiereghin, Chiara,

Castorina, Pierangela,

Duga, Stefano,

Massa, Valentina,

Ambrosetti, Umberto,

Steel, Karen P.,

Asselta, Rosanna,

Lewis, Morag A.

2023

Overview

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.

Share this book

Add to My Shelf

Publisher

Public Library of Science,Public Library of Science (PLoS)

Subject

Actin

/ Actins

/ Animals

/ Audiometry

/ Auditory defects

/ Biology and Life Sciences

/ Brain stem