Search Results - "BOWL, Michael R"

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

“…The Neuroplastin gene encodes two synapse-enriched protein isoforms, Np55 and Np65, which are transmembrane glycoproteins that regulate several cellular…”
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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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Absence of Embigin accelerates hearing loss and causes sub-viability, brain and heart defects in C57BL/6N mice due to interaction with Cdh23ahl by Newton, Sherylanne, Aguilar, Carlos, Bunton-Stasyshyn, Rosie K., Flook, Marisa, Stewart, Michelle, Marcotti, Walter, Brown, Steve, Bowl, Michael R.

“…Mouse studies continue to help elaborate upon the genetic landscape of mammalian disease and the underlying molecular mechanisms. Here, we have investigated an…”
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Clarin‐2 is essential for hearing by maintaining stereocilia integrity and function by 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

“…Hearing relies on mechanically gated ion channels present in the actin‐rich stereocilia bundles at the apical surface of cochlear hair cells. Our knowledge of…”
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Parafibromin, a Component of the Human PAF Complex, Regulates Growth Factors and Is Required for Embryonic Development and Survival in Adult Mice by 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

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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AAV-mediated rescue of Eps8 expression in vivo restores hair-cell function in a mouse model of recessive deafness by 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

“…The transduction of acoustic information by hair cells depends upon mechanosensitive stereociliary bundles that project from their apical surface. Mutations or…”
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Multiple endocrine neoplasia type 1 knockout mice develop parathyroid, pancreatic, pituitary and adrenal tumours with hypercalcaemia, hypophosphataemia and hypercorticosteronaemia by 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

“…Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterized in man by parathyroid, pancreatic, pituitary and adrenal tumours…”
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism by 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

“…X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and…”
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The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells by Parker, Andrew, Cross, Sally H, Jackson, Ian J, Hardisty-Hughes, Rachel, Morse, Susan, Nicholson, George, Coghill, Emma, Bowl, Michael R, Brown, Steve D M

“…Mitogen-activated protein kinase, MAP3K1, plays an important role in a number of cellular processes, including epithelial migration during eye organogenesis…”
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