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Pleiotropic brain function of whirlin identified by a novel mutation.
Aguilar C, Williams D, Kurapati R, Bains RS, Mburu P, Parker A, Williams J, Concas D, Tateossian H, Haynes AR, Banks G, Vikhe P, Heise I, Hutchison M, Atkins G, Gillard S, Starbuck B, Oliveri S, Blake A, Sethi S, Kumar S, Bardhan T, Jeng JY, Johnson SL, Corns LF, Marcotti W, Simon M, Wells S, Potter PK, Lad HV. Aguilar C, et al. Among authors: williams j, williams d. iScience. 2024 Jun 4;27(7):110170. doi: 10.1016/j.isci.2024.110170. eCollection 2024 Jul 19. iScience. 2024. PMID: 38974964 Free PMC article.
A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways.
Crompton M, Purnell T, Tyrer HE, Parker A, Ball G, Hardisty-Hughes RE, Gale R, Williams D, Dean CH, Simon MM, Mallon AM, Wells S, Bhutta MF, Burton MJ, Tateossian H, Brown SDM. Crompton M, et al. Among authors: williams d. PLoS Genet. 2017 Aug 14;13(8):e1006969. doi: 10.1371/journal.pgen.1006969. eCollection 2017 Aug. PLoS Genet. 2017. PMID: 28806779 Free PMC article.
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: williams fm, williams d. 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.
Myofibrillar myopathy caused by a mutation in the motor domain of mouse MyHC IIb.
Kurapati R, McKenna C, Lindqvist J, Williams D, Simon M, LeProust E, Baker J, Cheeseman M, Carroll N, Denny P, Laval S, Lochmüller H, Ochala J, Blanco G. Kurapati R, et al. Among authors: williams d. Hum Mol Genet. 2012 Apr 15;21(8):1706-24. doi: 10.1093/hmg/ddr605. Epub 2011 Dec 23. Hum Mol Genet. 2012. PMID: 22199023
HIF-VEGF pathways are critical for chronic otitis media in Junbo and Jeff mouse mutants.
Cheeseman MT, Tyrer HE, Williams D, Hough TA, Pathak P, Romero MR, Hilton H, Bali S, Parker A, Vizor L, Purnell T, Vowell K, Wells S, Bhutta MF, Potter PK, Brown SD. Cheeseman MT, et al. Among authors: williams d. PLoS Genet. 2011 Oct;7(10):e1002336. doi: 10.1371/journal.pgen.1002336. Epub 2011 Oct 20. PLoS Genet. 2011. PMID: 22028672 Free PMC article.
Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination.
Bogani D, Siggers P, Brixey R, Warr N, Beddow S, Edwards J, Williams D, Wilhelm D, Koopman P, Flavell RA, Chi H, Ostrer H, Wells S, Cheeseman M, Greenfield A. Bogani D, et al. Among authors: williams d. PLoS Biol. 2009 Sep;7(9):e1000196. doi: 10.1371/journal.pbio.1000196. Epub 2009 Sep 15. PLoS Biol. 2009. PMID: 19753101 Free PMC article.
A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.
Corrochano S, Blanco G, Williams D, Wettstein J, Simon M, Kumar S, Moir L, Agnew T, Stewart M, Landman A, Kotiadis VN, Duchen MR, Wackerhage H, Rubinsztein DC, Brown SDM, Acevedo-Arozena A. Corrochano S, et al. Among authors: williams d. Hum Mol Genet. 2018 May 15;27(10):1723-1731. doi: 10.1093/hmg/ddy077. Hum Mol Genet. 2018. PMID: 29509900 Free PMC article.
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