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The mouse as a model for age-related hearing loss - a mini-review.
Published in:
2015
By:
- Bowl, Michael R;
- Dawson, Sally J
Publication type:
journal article
CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
Published in:
EMBO Molecular Medicine, 2017, v. 9, n. 12, p. 1711, doi. 10.15252/emmm.201708087
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
Publication type:
Article
An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
Published in:
2005
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.
Publication type:
journal article
A Missense Glial Cells Missing Homolog B (GCMB) Mutation, Asn502His, Causes Autosomal Dominant Hypoparathyroidism.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 7, p. 3512, doi. 10.1210/jc.2009-2532
By:
- Mirczuk, Samantha M.;
- Bowl, Michael R.;
- Nesbit, M. Andrew;
- Cranston, Treena;
- Fratter, Carl;
- Allgrove, Jeremy;
- Brain, Caroline;
- Thakker, Rajesh V.
Publication type:
Article
Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.
Published in:
2009
By:
- Newey, Paul J;
- Jeyabalan, Jeshmi;
- Walls, Gerard V;
- Christie, Paul T;
- Gleeson, Fergus V;
- Gould, Steve;
- Johnson, Paul R V;
- Phillips, Rachel R;
- Ryan, Fiona J;
- Shine, Brian;
- Bowl, Michael R;
- Thakker, Rajesh V
Publication type:
journal article
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
Published in:
Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/s41467-017-00061-1
By:
- Giese, Arnaud P. J.;
- Yi-Quan Tang;
- 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.
Publication type:
Article
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Published in:
Nature Communications, 2016, v. 7, n. 8, p. 12444, doi. 10.1038/ncomms12444
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
Publication type:
Article
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.
Published in:
Clinical Genetics, 2024, v. 106, n. 4, p. 413, doi. 10.1111/cge.14563
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
Publication type:
Article
epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 4, p. 584, doi. 10.1093/hmg/ddy370
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
Publication type:
Article
Genetic landscape of auditory dysfunction.
Published in:
Human Molecular Genetics, 2018, v. 27, p. R130, doi. 10.1093/hmg/ddy158
By:
- Bowl, Michael R;
- Brown, Steve D M
Publication type:
Article
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 12, p. 2768, doi. 10.1093/hmg/dds105
By:
- Hannan, Fadil M.;
- Nesbit, M. Andrew;
- Zhang, Chen;
- Cranston, Treena;
- Curley, Alan J.;
- Harding, Brian;
- Fratter, Carl;
- Rust, Nigel;
- Christie, Paul T.;
- Turner, Jeremy J.O.;
- Lemos, Manuel C.;
- Bowl, Michael R.;
- Bouillon, Roger;
- Brain, Caroline;
- Bridges, Nicola;
- Burren, Christine;
- Connell, John M.;
- Jung, Heike;
- Marks, Eileen;
- McCredie, David
Publication type:
Article
Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness.
Published in:
Journal of Physiology, 2021, v. 599, n. 4, p. 1173, doi. 10.1113/JP280670
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
Publication type:
Article
Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea.
Published in:
Journal of Physiology, 2021, v. 599, n. 1, p. 269, doi. 10.1113/JP280256
By:
- Jeng, Jing‐Yi;
- Carlton, Adam J.;
- Johnson, Stuart L.;
- Brown, Steve D. M.;
- Holley, Matthew C.;
- Bowl, Michael R.;
- Marcotti, Walter
Publication type:
Article
Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea.
Published in:
Journal of Physiology, 2020, v. 598, n. 19, p. 4339, doi. 10.1113/JP280018
By:
- Jeng, Jing‐Yi;
- Ceriani, Federico;
- Olt, Jennifer;
- Brown, Steve D. M.;
- Holley, Matthew C.;
- Bowl, Michael R.;
- Johnson, Stuart L.;
- Marcotti, Walter
Publication type:
Article
Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells.
Published in:
Journal of Physiology, 2020, v. 598, n. 18, p. 3891, doi. 10.1113/JP279795
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
Publication type:
Article
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Published in:
Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-00595-4
By:
- 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.;
- Xiang Gao;
- Bradley, Allan;
- Skarnes, William C.
Publication type:
Article
Cell division cycle protein 73 homolog ( CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.
Published in:
2010
By:
- Newey, Paul J.;
- Bowl, Michael R.;
- Cranston, Treena;
- Thakker, Rajesh V.
Publication type:
Other
The Mouse as a Model for Age-Related Hearing Loss - A Mini-Review.
Published in:
Gerontology, 2015, v. 61, n. 2, p. 149, doi. 10.1159/000368399
By:
- Bowl, Michael R.;
- Dawson, Sally J.
Publication type:
Article
Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
Published in:
Human Molecular Genetics, 2010, v. 19, n. 10, p. 2028, doi. 10.1093/hmg/ddq084
By:
- Bowl, Michael R.;
- Mirczuk, Samantha M.;
- Grigorieva, Irina V.;
- Piret, Sian E.;
- Cranston, Treena;
- Southam, Lorraine;
- Allgrove, Jeremy;
- Bahl, Shailini;
- Brain, Caroline;
- Loughlin, John;
- Mughal, Zulf;
- Ryan, Fiona;
- Shaw, Nick;
- Thakker, Yogini V.;
- Tiosano, Dov;
- Nesbit, M. Andrew;
- Thakker, Rajesh V.
Publication type:
Article
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.
Published in:
Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0273-4
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.
Publication type:
Article
Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing.
Published in:
PLoS Genetics, 2022, v. 18, n. 1, p. 1, doi. 10.1371/journal.pgen.1009937
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.
Publication type:
Article
Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.
Published in:
Clinical Endocrinology, 2006, v. 65, n. 5, p. 598, doi. 10.1111/j.1365-2265.2006.02634.x
By:
- Harding, Brian;
- Curley, Alan J.;
- Hannan, Fadil M.;
- Christie, Paul T.;
- Bowl, Michael R.;
- Turner, Jeremy J. O.;
- Barber, Mathew;
- Gillham-Nasenya, Irina;
- Hampson, Geeta;
- Spector, Tim D.;
- Thakker, Rajesh V.
Publication type:
Article
Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss.
Published in:
Journal of Neuroscience, 2016, v. 36, n. 1, p. 222, doi. 10.1523/JNEUROSCI.1808-15.2016
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.
Publication type:
Article

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