Search Results - "Bowl, Michael"

Age-Related Hearing Loss by Bowl, Michael R, Dawson, Sally J

“…Age-related hearing loss (ARHL) is the most prevalent sensory deficit in the elderly. This progressive hearing impairment leads to social isolation and is also…”
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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells by 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.

“…Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows of graded heights. Calcium and…”
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The mouse as a model for age-related hearing loss - a mini-review by Bowl, Michael R, Dawson, Sally J

“…The most common form of sensory disability is age-related hearing loss (ARHL), also referred to as presbycusis. ARHL is a complex disorder with a mixture of…”
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Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing by 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

“…Mammalian hearing involves the mechanoelectrical transduction (MET) of sound-induced fluid waves in the cochlea. Essential to this process are the specialised…”
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Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness by 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

“…Key points Mechanoelectrical transduction at auditory hair cells requires highly specialized stereociliary bundles that project from their apical surface,…”
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Genetic landscape of auditory dysfunction by Bowl, Michael R, Brown, Steve D M

“…Abstract Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a…”
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Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors by Newey, Paul J, Bowl, Michael R, Cranston, Treena, Thakker, Rajesh V

“…The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with…”
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The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons by 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

“…Abstract Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from…”
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Helios is a key transcriptional regulator of outer hair cell maturation by 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 D. M., Elkon, Ran, Bowl, Michael R., Hertzano, Ronna

“…The sensory cells that are responsible for hearing include the cochlear inner hair cells (IHCs) and outer hair cells (OHCs), with the OHCs being necessary for…”
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Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells by Jeng, Jing‐Yi, Johnson, Stuart L., Carlton, Adam J, De Tomasi, Lara, Goodyear, Richard J., De Faveri, Francesca, Furness, David N., Wells, Sara, Brown, Steve D. M., Holley, Matthew C., Richardson, Guy P., Mustapha, Mirna, Bowl, Michael R., Marcotti, Walter

“…Key points Age‐related hearing loss (ARHL) is a very heterogeneous disease, resulting from cellular senescence, genetic predisposition and environmental…”
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Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea by Jeng, Jing‐Yi, Carlton, Adam J., Johnson, Stuart L., Brown, Steve D. M., Holley, Matthew C., Bowl, Michael R., Marcotti, Walter

“…Key points Age‐related hearing loss is a progressive hearing loss involving environmental and genetic factors, leading to a decrease in hearing sensitivity,…”
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Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair by 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

“…Nuclease-based technologies have been developed that enable targeting of specific DNA sequences directly in the zygote. These approaches provide an opportunity…”
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Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea by Jeng, Jing‐Yi, Ceriani, Federico, Olt, Jennifer, Brown, Steve D. M., Holley, Matthew C., Bowl, Michael R., Johnson, Stuart L., Marcotti, Walter

“…Key points Age‐related hearing loss (ARHL) is associated with the loss of inner hair cell (IHC) ribbon synapses, lower hearing sensitivity and decreased…”
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Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss by Mendia, Clara, Peineau, Thibault, Zamani, Mina, Felgerolle, Chloé, Yahiaoui, Nawal, Christophersen, Nele, Papal, Samantha, Maudoux, Audrey, Maroofian, Reza, Patni, Pranav, Nouaille, Sylvie, Bowl, Michael R, Delmaghani, Sedigheh, Galehdari, Hamid, Vona, Barbara, Dulon, Didier, Vitry, Sandrine, El-Amraoui, Aziz

“…Hearing loss is a major health concern affecting millions of people worldwide with currently limited treatment options. In clarin-2-deficient Clrn2 mice, used…”
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BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing by Carlton, Adam J., Jeng, Jing-Yi, Grandi, Fiorella C., De Faveri, Francesca, Amariutei, Ana E., De Tomasi, Lara, O’Connor, Andrew, Johnson, Stuart L., Furness, David N., Brown, Steve D.M., Ceriani, Federico, Bowl, Michael R., Mustapha, Mirna, Marcotti, Walter

“…Type I spiral ganglion neurons (SGNs) convey sound information to the central auditory pathway by forming synapses with inner hair cells (IHCs) in the…”
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Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature by Rad, Aboulfazl, Bartsch, Oliver, Bakhtiari, Somayeh, Zhu, Changlian, Xu, Yiran, Monteiro, Fabíola P., Kok, Fernando, Vulto‐van Silfhout, Anneke T., Kruer, Michael C., Bowl, Michael R., Vona, Barbara

“…MPDZ, a gene with diverse functions mediating cell–cell junction interactions, receptor signaling, and binding multivalent scaffold proteins, is associated…”
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CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival by 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

“…Defects of CIB2, calcium‐ and integrin‐binding protein 2, have been reported to cause isolated deafness, DFNB48 and Usher syndrome type‐IJ, characterized by…”
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A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways by 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.

“…Mutations in genes essential for mitochondrial function have pleiotropic effects. The mechanisms underlying these traits yield insights into metabolic…”
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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans by 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

“…Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended…”
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Novel gene function revealed by mouse mutagenesis screens for models of age-related disease by 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.

“…Determining the genetic bases of age-related disease remains a major challenge requiring a spectrum of approaches from human and clinical genetics to the…”
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