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A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.
Joyce PI, Mcgoldrick P, Saccon RA, Weber W, Fratta P, West SJ, Zhu N, Carter S, Phatak V, Stewart M, Simon M, Kumar S, Heise I, Bros-Facer V, Dick J, Corrochano S, Stanford MJ, Luong TV, Nolan PM, Meyer T, Brandner S, Bennett DL, Ozdinler PH, Greensmith L, Fisher EM, Acevedo-Arozena A. Joyce PI, et al. Among authors: kumar s. Hum Mol Genet. 2015 Apr 1;24(7):1883-97. doi: 10.1093/hmg/ddu605. Epub 2014 Dec 2. Hum Mol Genet. 2015. PMID: 25468678 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: kumar s. Nat Commun. 2016 Aug 18;7:12444. doi: 10.1038/ncomms12444. Nat Commun. 2016. PMID: 27534441 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: kumar s. Hum Mol Genet. 2018 May 15;27(10):1723-1731. doi: 10.1093/hmg/ddy077. Hum Mol Genet. 2018. PMID: 29509900 Free PMC article.
Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants.
Codner GF, Mianné J, Caulder A, Loeffler J, Fell R, King R, Allan AJ, Mackenzie M, Pike FJ, McCabe CV, Christou S, Joynson S, Hutchison M, Stewart ME, Kumar S, Simon MM, Agius L, Anstee QM, Volynski KE, Kullmann DM, Wells S, Teboul L. Codner GF, et al. Among authors: kumar s. BMC Biol. 2018 Jun 21;16(1):70. doi: 10.1186/s12915-018-0530-7. BMC Biol. 2018. PMID: 29925374 Free PMC article.
An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.
Esapa CT, Piret SE, Nesbit MA, Thomas GP, Coulton LA, Gallagher OM, Simon MM, Kumar S, Mallon AM, Bellantuono I, Brown MA, Croucher PI, Potter PK, Brown SD, Cox RD, Thakker RV. Esapa CT, et al. Among authors: kumar s. JBMR Plus. 2018 Mar 8;2(3):154-163. doi: 10.1002/jbm4.10033. eCollection 2018 May. JBMR Plus. 2018. PMID: 30283900 Free PMC article.
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: kumar s. 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.
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