Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

Autor: María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo

Publikováno v: Disease Models & Mechanisms, Vol 16, Iss 8 (2023)

Externí odkaz: https://doaj.org/article/c6c51b6550434d268a2800313a33a8f2

Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme

Autor: Morag A. Lewis, Neil J. Ingham, Jing Chen, Selina Pearson, Francesca Di Domenico, Sohinder Rekhi, Rochelle Allen, Matthew Drake, Annelore Willaert, Victoria Rook, Johanna Pass, Thomas Keane, David J. Adams, Abigail S. Tucker, Jacqueline K. White, Karen P. Steel

Publikováno v: BMC Biology, Vol 20, Iss 1, Pp 1-27 (2022)

Abstract Background Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated with the processes of generating targeted alleles, for instance using Cri

Externí odkaz: https://doaj.org/article/65098ed95b304c7e91044004c6edaebd

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

Autor: Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson

Publikováno v: BMC Medical Genomics, Vol 11, Iss 1, Pp 1-12 (2018)

Abstract Background Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adul

Externí odkaz: https://doaj.org/article/41ddf7d92f104ec0a0dcd6061bd405ec

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss

Autor: Morag A. Lewis, Jennifer Schulte, Lois Matthews, Kenneth I. Vaden, Claire J. Steves, Frances M.K. Williams, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel

Publikováno v: medRxiv

Adult-onset progressive hearing loss is a common, complex disease with a strong genetic component. Although to date over 150 genes have been identified as contributing to human hearing loss, many more remain to be discovered, as does most of the unde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b05b90794c4aca2b516e8cbbae4d0880
https://doi.org/10.1101/2023.04.27.23289040

Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells

Autor: Beatriz Lorente-Cánovas, Stephanie Eckrich, Morag A. Lewis, Stuart L. Johnson, Walter Marcotti, Karen P. Steel

Publikováno v: Lorente Canovas, B, Eckrich, S, Lewis, M, Johnson, S, Marcotti, W & Steel, K 2022, ' Grxcr1 regulates hair bundle morphogenesis and is required for normal mechanoelectrical transduction in mouse cochlear hair cells ', PLoS One, vol. 17, no. 3 March, e0261530 . https://doi.org/10.1371/journal.pone.0261530

Tasmanian devil (tde) mice are deaf and exhibit circling behaviour. Sensory hair cells of mutants show disorganised hair bundles with abnormally thin stereocilia. The origin of this mutation is the insertion of a transgene which disrupts expression o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8404d96d11981dc92cb534557b3107d
https://doi.org/10.1371/journal.pone.0261530