Búsqueda | Biblioteca Virtual en Salud Odontología. Uruguay

1.

Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss.

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.

Mol Ther ; 32(3): 800-817, 2024 Mar 06.

Artículo en Inglés | MEDLINE | ID: mdl-38243601

2.

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

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.

PLoS Genet ; 18(1): e1009937, 2022 01.

Artículo en Inglés | MEDLINE | ID: mdl-35100259

3.

Helios is a key transcriptional regulator of outer hair cell maturation.

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.

Nature ; 563(7733): 696-700, 2018 11.

Artículo en Inglés | MEDLINE | ID: mdl-30464345

4.

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

Jeng, Jing-Yi; Carlton, Adam J; Johnson, Stuart L; Brown, Steve D M; Holley, Matthew C; Bowl, Michael R; Marcotti, Walter.

J Physiol ; 599(1): 269-287, 2021 01.

Artículo en Inglés | MEDLINE | ID: mdl-33179774

5.

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

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.

J Physiol ; 599(4): 1173-1198, 2021 02.

Artículo en Inglés | MEDLINE | ID: mdl-33151556

6.

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

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.

Hum Mol Genet ; 28(4): 584-597, 2019 02 15.

Artículo en Inglés | MEDLINE | ID: mdl-30335140

7.

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

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.

Hum Genet ; 140(6): 915-931, 2021 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-33496845

8.

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

Jeng, Jing-Yi; Ceriani, Federico; Olt, Jennifer; Brown, Steve D M; Holley, Matthew C; Bowl, Michael R; Johnson, Stuart L; Marcotti, Walter.

J Physiol ; 598(19): 4339-4355, 2020 10.

Artículo en Inglés | MEDLINE | ID: mdl-32710572

9.

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

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.

J Physiol ; 598(18): 3891-3910, 2020 09.

Artículo en Inglés | MEDLINE | ID: mdl-32608086

10.

Genetic landscape of auditory dysfunction.

Bowl, Michael R; Brown, Steve D M.

Hum Mol Genet ; 27(R2): R130-R135, 2018 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-29726933

11.

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

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.

J Neurosci ; 36(1): 222-34, 2016 Jan 06.

Artículo en Inglés | MEDLINE | ID: mdl-26740663

12.

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

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.

Am J Pathol ; 186(7): 1925-1938, 2016 07.

Artículo en Inglés | MEDLINE | ID: mdl-27207593

13.

The mouse as a model for age-related hearing loss - a mini-review.

Bowl, Michael R; Dawson, Sally J.

Gerontology ; 61(2): 149-57, 2015.

Artículo en Inglés | MEDLINE | ID: mdl-25471225

14.

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

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; Mughal, Zulf; Rodda, Christine; Tollefsen, Sherida; Brown, Edward M; Yang, Jenny J; Thakker, Rajesh V.

Hum Mol Genet ; 21(12): 2768-78, 2012 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-22422767

15.

BAI1 localizes AMPA receptors at the cochlear afferent post-synaptic density and is essential for hearing.

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.

Cell Rep ; 43(4): 114025, 2024 Apr 23.

Artículo en Inglés | MEDLINE | ID: mdl-38564333

16.

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

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

iScience ; 26(10): 108056, 2023 Oct 20.

Artículo en Inglés | MEDLINE | ID: mdl-37854703

17.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F; Jacobsen, Julius Ob; Arno, Gavin; Behr, Elijah R; Benson, Katherine A; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R; Burley, Kate; Chan, Li F; Chinnery, Patrick; Conlon, Peter; Costa, Marcos; Davidson, Alice E; Dawson, Sally J; Elhassan, Elhussein; Flanagan, Sarah E; Futema, Marta; Gale, Daniel P; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R; Hambleton, Sophie; Hicks, Amy R; Houlden, Henry; Houlston, Richard S; Howles, Sarah A; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah; Morsy, Heba; Mumford, Andrew D; Newman, William G; Neatu, Ruxandra; O'Toole, Edel A; Ong, Albert Cm; Pagnamenta, Alistair T; Rahman, Shamima; Rajan, Neil; Robinson, Peter N; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A; Shovlin, Claire L; Taylor, Jenny C; Teltsh, Omri.

medRxiv ; 2023 Dec 21.

Artículo en Inglés | MEDLINE | ID: mdl-38196618

18.

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

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.

Hum Mol Genet ; 19(10): 2028-38, 2010 May 15.

Artículo en Inglés | MEDLINE | ID: mdl-20190276

19.

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

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.

Sci Adv ; 8(29): eabl4733, 2022 Jul 22.

Artículo en Inglés | MEDLINE | ID: mdl-35857845

20.

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

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.

Mol Ther Methods Clin Dev ; 26: 355-370, 2022 Sep 08.

Artículo en Inglés | MEDLINE | ID: mdl-36034774

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