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Age-Related Hearing Loss.
Bowl MR, Dawson SJ. Bowl MR, et al. Cold Spring Harb Perspect Med. 2019 Aug 1;9(8):a033217. doi: 10.1101/cshperspect.a033217. Cold Spring Harb Perspect Med. 2019. PMID: 30291149 Free PMC article. Review.
Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.
Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. Among authors: bowl mr. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.
Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss.
Carrott L, Bowl MR, Aguilar C, Johnson SL, Chessum L, West M, Morse S, Dorning J, Smart E, Hardisty-Hughes R, Ball G, Parker A, Barnard AR, MacLaren RE, Wells S, Marcotti W, Brown SD. Carrott L, et al. Among authors: bowl mr. J Neurosci. 2016 Jan 6;36(1):222-34. doi: 10.1523/JNEUROSCI.1808-15.2016. J Neurosci. 2016. PMID: 26740663 Free PMC article.
Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.
Potter PK, Bowl MR, Jeyarajan P, Wisby L, Blease A, Goldsworthy ME, Simon MM, Greenaway S, Michel V, Barnard A, Aguilar C, Agnew T, Banks G, Blake A, Chessum L, Dorning J, Falcone S, Goosey L, Harris S, Haynes A, Heise I, Hillier R, Hough T, Hoslin A, Hutchison M, King R, Kumar S, Lad HV, Law G, MacLaren RE, Morse S, Nicol T, Parker A, Pickford K, Sethi S, Starbuck B, Stelma F, Cheeseman M, Cross SH, Foster RG, Jackson IJ, Peirson SN, Thakker RV, Vincent T, Scudamore C, Wells S, El-Amraoui A, Petit C, Acevedo-Arozena A, Nolan PM, Cox R, Mallon AM, Brown SD. Potter PK, et al. Among authors: bowl mr. Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444. Nat Commun. 2016. PMID: 27534441 Free PMC article.
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L; International Mouse Phenotyping Consortium; Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM. Bowl MR, et al. Nat Commun. 2017 Oct 12;8(1):886. doi: 10.1038/s41467-017-00595-4. Nat Commun. 2017. PMID: 29026089 Free PMC article.
Genetic landscape of auditory dysfunction.
Bowl MR, Brown SDM. Bowl MR, et al. Hum Mol Genet. 2018 Aug 1;27(R2):R130-R135. doi: 10.1093/hmg/ddy158. Hum Mol Genet. 2018. PMID: 29726933 Review.
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.
Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Rüschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H. Vona B, et al. Among authors: bowl mr. Hum Genet. 2021 Jun;140(6):915-931. doi: 10.1007/s00439-020-02254-z. Epub 2021 Jan 26. Hum Genet. 2021. PMID: 33496845 Free PMC article.
51 results