Zobrazeno 1 - 10
of 252
pro vyhledávání: '"Karen P, Steel"'
Autor:
Morag A. Lewis, Maria Lachgar-Ruiz, Francesca Di Domenico, Graham Duddy, Jing Chen, Sergio Fernandez, Matias Morin, Gareth Williams, Miguel Angel Moreno Pelayo, Karen P. Steel
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Abstract Background Progressive hearing loss is a common problem in the human population with no effective therapeutics currently available. However, it has a strong genetic contribution, and investigating the genes and regulatory interactions underl
Externí odkaz:
https://doaj.org/article/18ebda7be878464080ab6f75b1462e0e
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:
PLoS Genetics, Vol 19, Iss 11, p e1011058 (2023)
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://doaj.org/article/60402f1aa5f14554a3436cc295e14c8e
Autor:
Valda Pauzuolyte, Aara Patel, James R Wawrzynski, Neil J Ingham, Yeh Chwan Leong, Rajvinder Karda, Maria Bitner‐Glindzicz, Wolfgang Berger, Simon N Waddington, Karen P Steel, Jane C Sowden
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 10, Pp n/a-n/a (2023)
Abstract Deafness affects 5% of the world's population, yet there is a lack of treatments to prevent hearing loss due to genetic causes. Norrie disease is a recessive X‐linked disorder, caused by NDP gene mutation. It manifests as blindness at birt
Externí odkaz:
https://doaj.org/article/20194006b0f44e9ebc938dfeede099dc
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
Publikováno v:
BMC Biology, Vol 20, Iss 1, Pp 1-20 (2022)
Abstract Background Age-related hearing loss is a common, heterogeneous disease with a strong genetic component. More than 100 loci have been reported to be involved in human hearing impairment to date, but most of the genes underlying human adult-on
Externí odkaz:
https://doaj.org/article/77b585e756ad436bb7ed8183ee5871f9
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
Autor:
Lisa S. Nolan, Jing Chen, Ana-Cláudia Gonçalves, Anwen Bullen, Emily R. Towers, Karen P. Steel, Sally J. Dawson, Jonathan E. Gale
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-16 (2022)
Abstract Cell cycle associated protein 1 (Caprin1) is an RNA-binding protein that can regulate the cellular post-transcriptional response to stress. It is a component of both stress granules and neuronal RNA granules and is implicated in neurodegener
Externí odkaz:
https://doaj.org/article/e18e5c9919924ec2b1b27e52e64e08be
Autor:
Chiara Chiereghin, Michela Robusto, Morag A Lewis, Susana Caetano, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Karen P Steel, Stefano Duga, Rosanna Asselta, Giulia Soldà
Publikováno v:
PLoS ONE, Vol 18, Iss 1, p e0273586 (2023)
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 hearin
Externí odkaz:
https://doaj.org/article/ccb3ac33f03a448097cb557fcb46ae43
Autor:
Dale Bryant, Valda Pauzuolyte, Neil J. Ingham, Aara Patel, Waheeda Pagarkar, Lucy A. Anderson, Katie E. Smith, Dale A. Moulding, Yeh C. Leong, Daniyal J. Jafree, David A. Long, Amina Al-Yassin, Karen P. Steel, Daniel J. Jagger, Andrew Forge, Wolfgang Berger, Jane C. Sowden, Maria Bitner-Glindzicz
Publikováno v:
JCI Insight, Vol 7, Iss 3 (2022)
Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This study aimed to understand
Externí odkaz:
https://doaj.org/article/c0067fb493e84e5eb2bb68d97a3e6a6d
Autor:
Beatriz Lorente-Cánovas, Stephanie Eckrich, Morag A Lewis, Stuart L Johnson, Walter Marcotti, Karen P Steel
Publikováno v:
PLoS ONE, Vol 17, Iss 3, p e0261530 (2022)
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://doaj.org/article/cee86f7ee77649caa32fec15c001cbb2