Investigating audible and ultrasonic noise in modern animal facilities

por Parker, Andrew, Hobson, Liane, Bains, Rasneer, Wells, Sara, Bowl, Michael
Publicado 2022

Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23(ahl)

por Newton, Sherylanne, Aguilar, Carlos, Bunton-Stasyshyn, Rosie K., Flook, Marisa, Stewart, Michelle, Marcotti, Walter, Brown, Steve, Bowl, Michael R.
Publicado 2023

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells

por Parker, Andrew, Cross, Sally H., Jackson, Ian J., Hardisty-Hughes, Rachel, Morse, Susan, Nicholson, George, Coghill, Emma, Bowl, Michael R., Brown, Steve D. M.
Publicado 2015

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

por Newton, Sherylanne, Kong, Fanbo, Carlton, Adam J., Aguilar, Carlos, Parker, Andrew, Codner, Gemma F., Teboul, Lydia, Wells, Sara, Brown, Steve D. M., Marcotti, Walter, Bowl, Michael R.
Publicado 2022

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair

por Mianné, Joffrey, Chessum, Lauren, Kumar, Saumya, Aguilar, Carlos, Codner, Gemma, Hutchison, Marie, Parker, Andrew, Mallon, Ann-Marie, Wells, Sara, Simon, Michelle M., Teboul, Lydia, Brown, Steve D. M., Bowl, Michael R.
Publicado 2016

Structural basis for tunable control of actin dynamics by myosin-15 in mechanosensory stereocilia

por Gong, Rui, Jiang, Fangfang, Moreland, Zane G., Reynolds, Matthew J., de los Reyes, Santiago Espinosa, Gurel, Pinar, Shams, Arik, Heidings, James B., Bowl, Michael R., Bird, Jonathan E., Alushin, Gregory M.
Publicado 2022

Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia

por Harding, Brian, Lemos, Manuel C, Reed, Anita A C, Walls, Gerard V, Jeyabalan, Jeshmi, Bowl, Michael R, Tateossian, Hilda, Sullivan, Nicky, Hough, Tertius, Fraser, William D, Ansorge, Olaf, Cheeseman, Michael T, Thakker, Rajesh V
Publicado 2009

Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness

por Carlton, Adam J., Halford, Julia, Underhill, Anna, Jeng, Jing‐Yi, Avenarius, Matthew R., Gilbert, Merle L., Ceriani, Federico, Ebisine, Kimimuepigha, Brown, Steve D. M., Bowl, Michael R., Barr‐Gillespie, Peter G., Marcotti, Walter
Publicado 2020

AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness

por Jeng, Jing-Yi, Carlton, Adam J., Goodyear, Richard J., Chinowsky, Colbie, Ceriani, Federico, Johnson, Stuart L., Sung, Tsung-Chang, Dayn, Yelena, Richardson, Guy P., Bowl, Michael R., Brown, Steve D.M., Manor, Uri, Marcotti, Walter
Publicado 2022

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

por Finelli, Mattéa J, Aprile, Davide, Castroflorio, Enrico, Jeans, Alexander, Moschetta, Matteo, Chessum, Lauren, Degiacomi, Matteo T, Grasegger, Julia, Lupien-Meilleur, Alexis, Bassett, Andrew, Rossignol, Elsa, Campeau, Philippe M, Bowl, Michael R, Benfenati, Fabio, Fassio, Anna, Oliver, Peter L
Publicado 2019

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells

por Giese, Arnaud P. J., Tang, Yi-Quan, Sinha, Ghanshyam P., Bowl, Michael R., Goldring, Adam C., Parker, Andrew, Freeman, Mary J., Brown, Steve D. M., Riazuddin, Saima, Fettiplace, Robert, Schafer, William R., Frolenkov, Gregory I., Ahmed, Zubair M.
Publicado 2017

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

por Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Publicado 2020

A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways

por Agnew, Thomas, Goldsworthy, Michelle, Aguilar, Carlos, Morgan, Anna, Simon, Michelle, Hilton, Helen, Esapa, Chris, Wu, Yixing, Cater, Heather, Bentley, Liz, Scudamore, Cheryl, Poulton, Joanna, Morten, Karl J., Thompson, Kyle, He, Langping, Brown, Steve D.M., Taylor, Robert W., Bowl, Michael R., Cox, Roger D.
Publicado 2018

Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits

por Banks, Gareth T., Guillaumin, Mathilde C. C., Heise, Ines, Lau, Petrina, Yin, Minghui, Bourbia, Nora, Aguilar, Carlos, Bowl, Michael R., Esapa, Chris, Brown, Laurence A., Hasan, Sibah, Tagliatti, Erica, Nicholson, Elizabeth, Bains, Rasneer Sonia, Wells, Sara, Vyazovskiy, Vladyslav V., Volynski, Kirill, Peirson, Stuart N., Nolan, Patrick M.
Publicado 2020

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

por Michel, Vincent, Booth, Kevin T, Patni, Pranav, Cortese, Matteo, Azaiez, Hela, Bahloul, Amel, Kahrizi, Kimia, Labbé, Ménélik, Emptoz, Alice, Lelli, Andrea, Dégardin, Julie, Dupont, Typhaine, Aghaie, Asadollah, Oficjalska‐Pham, Danuta, Picaud, Serge, Najmabadi, Hossein, Smith, Richard J, Bowl, Michael R, Brown, Steven DM, Avan, Paul, Petit, Christine, El‐Amraoui, Aziz
Publicado 2017

Ikzf2/helios is a key transcriptional regulator of outer hair cell maturation

por Chessum, Lauren, Matern, Maggie S, Kelly, Michael C, Johnson, Stuart L, Ogawa, Yoko, Milon, Beatrice, McMurray, Mark, Driver, Elizabeth C, Parker, Andrew, Song, Yang, Codner, Gemma, Esapa, Christopher T, Prescott, Jack, Trent, Graham, Wells, Sara, Dragich, Abigail K, Frolenkov, Gregory I., Kelley, Matthew W, Marcotti, Walter, Brown, Steve DM, Elkon, Ran, Bowl, Michael R, Hertzano, Ronna
Publicado 2018

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

por Vona, Barbara, Mazaheri, Neda, Lin, Sheng-Jia, Dunbar, Lucy A., Maroofian, Reza, Azaiez, Hela, Booth, Kevin T., Vitry, Sandrine, Rad, Aboulfazl, Rüschendorf, Franz, Varshney, Pratishtha, Fowler, Ben, Beetz, Christian, Alagramam, Kumar N., Murphy, David, Shariati, Gholamreza, Sedaghat, Alireza, Houlden, Henry, Petree, Cassidy, VijayKumar, Shruthi, Smith, Richard J. H., Haaf, Thomas, El-Amraoui, Aziz, Bowl, Michael R., Varshney, Gaurav K., Galehdari, Hamid
Publicado 2021

Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function

por Dunbar, Lucy A, Patni, Pranav, Aguilar, Carlos, Mburu, Philomena, Corns, Laura, Wells, Helena RR, Delmaghani, Sedigheh, Parker, Andrew, Johnson, Stuart, Williams, Debbie, Esapa, Christopher T, Simon, Michelle M, Chessum, Lauren, Newton, Sherylanne, Dorning, Joanne, Jeyarajan, Prashanthini, Morse, Susan, Lelli, Andrea, Codner, Gemma F, Peineau, Thibault, Gopal, Suhasini R, Alagramam, Kumar N, Hertzano, Ronna, Dulon, Didier, Wells, Sara, Williams, Frances M, Petit, Christine, Dawson, Sally J, Brown, Steve DM, Marcotti, Walter, El‐Amraoui, Aziz, Bowl, Michael R
Publicado 2019

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease

por Potter, Paul K., Bowl, Michael R., Jeyarajan, Prashanthini, Wisby, Laura, Blease, Andrew, Goldsworthy, Michelle E., Simon, Michelle M., Greenaway, Simon, Michel, Vincent, Barnard, Alun, Aguilar, Carlos, Agnew, Thomas, Banks, Gareth, Blake, Andrew, Chessum, Lauren, Dorning, Joanne, Falcone, Sara, Goosey, Laurence, Harris, Shelley, Haynes, Andy, Heise, Ines, Hillier, Rosie, Hough, Tertius, Hoslin, Angela, Hutchison, Marie, King, Ruairidh, Kumar, Saumya, Lad, Heena V., Law, Gemma, MacLaren, Robert E., Morse, Susan, Nicol, Thomas, Parker, Andrew, Pickford, Karen, Sethi, Siddharth, Starbuck, Becky, Stelma, Femke, Cheeseman, Michael, Cross, Sally H., Foster, Russell G., Jackson, Ian J., Peirson, Stuart N., Thakker, Rajesh V., Vincent, Tonia, Scudamore, Cheryl, Wells, Sara, El-Amraoui, Aziz, Petit, Christine, Acevedo-Arozena, Abraham, Nolan, Patrick M., Cox, Roger, Mallon, Anne-Marie, Brown, Steve D. M.
Publicado 2016

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

por Bowl, Michael R., Simon, Michelle M., Ingham, Neil J., Greenaway, Simon, Santos, Luis, Cater, Heather, Taylor, Sarah, Mason, Jeremy, Kurbatova, Natalja, Pearson, Selina, Bower, Lynette R., Clary, Dave A., Meziane, Hamid, Reilly, Patrick, Minowa, Osamu, Kelsey, Lois, Tocchini-Valentini, Glauco P., Gao, Xiang, Bradley, Allan, Skarnes, William C., Moore, Mark, Beaudet, Arthur L., Justice, Monica J., Seavitt, John, Dickinson, Mary E., Wurst, Wolfgang, de Angelis, Martin Hrabe, Herault, Yann, Wakana, Shigeharu, Nutter, Lauryl M. J., Flenniken, Ann M., McKerlie, Colin, Murray, Stephen A., Svenson, Karen L., Braun, Robert E., West, David B., Lloyd, K. C. Kent, Adams, David J., White, Jacqui, Karp, Natasha, Flicek, Paul, Smedley, Damian, Meehan, Terrence F., Parkinson, Helen E., Teboul, Lydia M., Wells, Sara, Steel, Karen P., Mallon, Ann-Marie, Brown, Steve D. M.
Publicado 2017