Age-Related Hearing Loss

por Bowl, Michael R., Dawson, Sally J.
Publicado en Cold Spring Harb Perspect Med (2019)

Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea

por Jeng, Jing-Yi, Carlton, Adam, Johnson, Stuart L., Brown, Steve D. M., Holley, Matthew C., Bowl, Michael R., Marcotti, Walter
Publicado en J Physiol (2021)

Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea

por Jeng, Jing-Yi, Ceriani, Federico, Olt, Jennifer, Brown, Steve D. M., Holley, Matthew C., Bowl, Michael R., Johnson, Stuart L., Marcotti, Walter
Publicado en J Physiol (2020)

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 en Dis Model Mech (2015)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism

por Bowl, Michael R., Nesbit, M. Andrew, Harding, Brian, Levy, Elaine, Jefferson, Andrew, Volpi, Emanuela, Rizzoti, Karine, Lovell-Badge, Robin, Schlessinger, David, Whyte, Michael P., Thakker, Rajesh V.
Publicado 2005

Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice

por Wang, Pengfei, Bowl, Michael R., Bender, Stephanie, Peng, Jun, Farber, Leslie, Chen, Jindong, Ali, Asif, Zhang, ZhongFa, Alberts, Arthur S., Thakker, Rajesh V., Shilatifard, Ali, Williams, Bart O., Teh, Bin Tean
Publicado 2008

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 en Genome Med (2016)

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 en Endocr Relat Cancer (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 en J Physiol (2020)

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

por Greenwald, Scott H., Charette, Jeremy R., Staniszewska, Magdalena, Shi, Lan Ying, Brown, Steve D.M., Stone, Lisa, Liu, Qin, Hicks, Wanda L., Collin, Gayle B., Bowl, Michael R., Krebs, Mark P., Nishina, Patsy M., Pierce, Eric A.
Publicado en Am J Pathol (2016)

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 en Hum Mol Genet (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 en Nat Commun (2017)

Age-related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

por Jeng, Jing-Yi, Johnson, Stuart L., Carlton, Adam J, DeTomasi, Lara, Goodyear, Richard, DeFaveri, Francesca, Furness, David N., Wells, Sara, Brown, Steve D. M., Holley, Matthew C., Richardson, Guy P., Mustapha, Mirna, Bowl, Michael R., Marcotti, Walter
Publicado en J Physiol (2020)

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 en Endocr Connect (2020)

Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss

por Carrott, Leanne, Bowl, Michael R., Aguilar, Carlos, Johnson, Stuart L., Chessum, Lauren, West, Melissa, Morse, Susan, Dorning, Joanne, Smart, Elizabeth, Hardisty-Hughes, Rachel, Ball, Greg, Parker, Andrew, Barnard, Alun R., MacLaren, Robert E., Wells, Sara, Marcotti, Walter, Brown, Steve D.M.
Publicado en J Neurosci (2016)

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 en Cell Rep (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 en Sci Adv (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 en EMBO Mol Med (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 en Nature (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 en Hum Genet (2021)