MyosinVIIa interacts with Twinfilin-2 at the tips of mechanosensory stereocilia in the inner ear.

by Agnieszka K Rzadzinska, Elisa M Nevalainen, Haydn M Prosser, Pekka Lappalainen, Karen P Steel
Published 2009-09-01

Hearing impairment due to Mir183/96/182 mutations suggests both loss-of-function and gain-of-function effects

by Morag A. Lewis, Francesca Di Domenico, Neil J. Ingham, Haydn M. Prosser, Karen P. Steel
Published 2021-02-01

Auditory function in the Tc1 mouse model of down syndrome suggests a limited region of human chromosome 21 involved in otitis media.

by Stephanie Kuhn, Neil Ingham, Selina Pearson, Susan M Gribble, Stephen Clayton, Karen P Steel, Walter Marcotti
Published 2012-01-01

Expression and replication studies to identify new candidate genes involved in normal hearing function.

by Giorgia Girotto, Dragana Vuckovic, Annalisa Buniello, Beatriz Lorente-Cánovas, Morag Lewis, Paolo Gasparini, Karen P Steel
Published 2014-01-01

Headbobber: a combined morphogenetic and cochleosaccular mouse model to study 10qter deletions in human deafness.

by Annalisa Buniello, Rachel E Hardisty-Hughes, Johanna C Pass, Eva Bober, Richard J Smith, Karen P Steel
Published 2013-01-01

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear

by Beatriz Lorente-Cánovas, Neil Ingham, Elizabeth E. Norgett, Zoe J. Golder, Fiona E. Karet Frankl, Karen P. Steel
Published 2013-03-01

Synaptojanin2 Mutation Causes Progressive High-frequency Hearing Loss in Mice

by Elisa Martelletti, Neil J. Ingham, Oliver Houston, Johanna C. Pass, Jing Chen, Walter Marcotti, Walter Marcotti, Karen P. Steel
Published 2020-09-01

Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects.

by Georg Steffes, Beatriz Lorente-Cánovas, Selina Pearson, Rachael H Brooker, Sarah Spiden, Amy E Kiernan, Jean-Louis Guénet, Karen P Steel
Published 2012-01-01

Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia

by Seham Ebrahim, Neil J. Ingham, Morag A. Lewis, Michael J.C. Rogers, Runjia Cui, Bechara Kachar, Johanna C. Pass, Karen P. Steel
Published 2016-05-01

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

by Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson
Published 2018-09-01

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

by Giorgia Girotto, Khalid Abdulhadi, Annalisa Buniello, Diego Vozzi, Danilo Licastro, Angela d'Eustacchio, Dragana Vuckovic, Moza Khalifa Alkowari, Karen P Steel, Ramin Badii, Paolo Gasparini
Published 2013-01-01

The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.

by Sarah L Spiden, Mario Bortolozzi, Francesca Di Leva, Martin Hrabé de Angelis, Helmut Fuchs, Dmitry Lim, Saida Ortolano, Neil J Ingham, Marisa Brini, Ernesto Carafoli, Fabio Mammano, Karen P Steel
Published 2008-10-01

Mechanotransduction is required for establishing and maintaining mature inner hair cells and regulating efferent innervation

by Laura F. Corns, Stuart L. Johnson, Terri Roberts, Kishani M. Ranatunga, Aenea Hendry, Federico Ceriani, Saaid Safieddine, Karen P. Steel, Andy Forge, Christine Petit, David N. Furness, Corné J. Kros, Walter Marcotti
Published 2018-10-01

Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

by Jing Chen, Neil Ingham, John Kelly, Shalini Jadeja, David Goulding, Johanna Pass, Vinit B Mahajan, Stephen H Tsang, Anastasia Nijnik, Ian J Jackson, Jacqueline K White, Andrew Forge, Daniel Jagger, Karen P Steel
Published 2014-10-01

Correction: Mcph1-Deficient Mice Reveal a Role for MCPH1 in Otitis Media

by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E. Vancollie, Ozama Ismail, Rebecca E. McIntyre, Stephen H. Tsang, Vinit B. Mahajan, Gordon Dougan, David J. Adams, Jacqueline K. White, Karen P. Steel
Published 2013-01-01

Correction: -Deficient Mice Reveal a Role for MCPH1 in Otitis Media.

by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E. Vancollie, Ozama Ismail, Rebecca E. McIntyre, Stephen H. Tsang, Vinit B. Mahajan, Gordon Dougan, David J. Adams, Jacqueline K. White, Karen P. Steel
Published 2013-01-01

Mcph1-deficient mice reveal a role for MCPH1 in otitis media.

by Jing Chen, Neil Ingham, Simon Clare, Claire Raisen, Valerie E Vancollie, Ozama Ismail, Rebecca E McIntyre, Stephen H Tsang, Vinit B Mahajan, Gordon Dougan, David J Adams, Jacqueline K White, Karen P Steel
Published 2013-01-01

A Myo6 mutation destroys coordination between the myosin heads, revealing new functions of myosin VI in the stereocilia of mammalian inner ear hair cells.

by Ronna Hertzano, Ella Shalit, Agnieszka K Rzadzinska, Amiel A Dror, Lin Song, Uri Ron, Joshua T Tan, Alina Starovolsky Shitrit, Helmut Fuchs, Tama Hasson, Nir Ben-Tal, H Lee Sweeney, Martin Hrabe de Angelis, Karen P Steel, Karen B Avraham
Published 2008-10-01

Identification of genes important for cutaneous function revealed by a large scale reverse genetic screen in the mouse.

by Tia DiTommaso, Lynelle K Jones, Denny L Cottle, WTSI Mouse Genetics Program, Anna-Karin Gerdin, Valerie E Vancollie, Fiona M Watt, Ramiro Ramirez-Solis, Allan Bradley, Karen P Steel, John P Sundberg, Jacqueline K White, Ian M Smyth
Published 2014-10-01

Mouse screen reveals multiple new genes underlying mouse and human hearing loss.

by Neil J Ingham, Selina A Pearson, Valerie E Vancollie, Victoria Rook, Morag A Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D Weiss, Zӧe Powis, Pim Suwannarat, Christopher J Lelliott, Sally J Dawson, Jacqueline K White, Karen P Steel
Published 2019-04-01