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Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Jiang H, Hooper C, Kelly M, Steeples V, Simon JN, Beglov J, Azad AJ, Leinhos L, Bennett P, Ehler E, Kalisch-Smith JI, Sparrow DB, Fischer R, Heilig R, Isackson H, Ehsan M, Patone G, Huebner N, Davies B, Watkins H, Gehmlich K. Jiang H, et al. Among authors: davies b. Basic Res Cardiol. 2021 Feb 26;116(1):14. doi: 10.1007/s00395-021-00853-z. Basic Res Cardiol. 2021. PMID: 33637999 Free PMC article.
Functional significance of SRJ domain mutations in CITED2.
Chen CM, Bentham J, Cosgrove C, Braganca J, Cuenda A, Bamforth SD, Schneider JE, Watkins H, Keavney B, Davies B, Bhattacharya S. Chen CM, et al. Among authors: davies b. PLoS One. 2012;7(10):e46256. doi: 10.1371/journal.pone.0046256. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082118 Free PMC article.
Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity.
Siggs OM, Stockenhuber A, Deobagkar-Lele M, Bull KR, Crockford TL, Kingston BL, Crawford G, Anzilotti C, Steeples V, Ghaffari S, Czibik G, Bellahcene M, Watkins H, Ashrafian H, Davies B, Woods A, Carling D, Yavari A, Beutler B, Cornall RJ. Siggs OM, et al. Among authors: davies b. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):E3706-15. doi: 10.1073/pnas.1607592113. Epub 2016 Jun 14. Proc Natl Acad Sci U S A. 2016. PMID: 27303042 Free PMC article.
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion.
Ehsan M, Kelly M, Hooper C, Yavari A, Beglov J, Bellahcene M, Ghataorhe K, Poloni G, Goel A, Kyriakou T, Fleischanderl K, Ehler E, Makeyev E, Lange S, Ashrafian H, Redwood C, Davies B, Watkins H, Gehmlich K. Ehsan M, et al. Among authors: davies b. J Mol Cell Cardiol. 2018 Aug;121:287-296. doi: 10.1016/j.yjmcc.2018.07.248. Epub 2018 Jul 23. J Mol Cell Cardiol. 2018. PMID: 30048712 Free PMC article.
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.
Broadway-Stringer S, Jiang H, Wadmore K, Hooper C, Douglas G, Steeples V, Azad AJ, Singer E, Reyat JS, Galatik F, Ehler E, Bennett P, Kalisch-Smith JI, Sparrow DB, Davies B, Djinovic-Carugo K, Gautel M, Watkins H, Gehmlich K. Broadway-Stringer S, et al. Among authors: davies b. Cells. 2023 Feb 24;12(5):721. doi: 10.3390/cells12050721. Cells. 2023. PMID: 36899856 Free PMC article.
A versatile transgenic allele for mouse overexpression studies.
Dolatshad H, Biggs D, Diaz R, Hortin N, Preece C, Davies B. Dolatshad H, et al. Among authors: davies b. Mamm Genome. 2015 Dec;26(11-12):598-608. doi: 10.1007/s00335-015-9602-y. Epub 2015 Sep 14. Mamm Genome. 2015. PMID: 26369329 Free PMC article.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. Among authors: davies b. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.
Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Gordon D, Dafinca R, Scaber J, Alegre-Abarrategui J, Farrimond L, Scott C, Biggs D, Kent L, Oliver PL, Davies B, Ansorge O, Wade-Martins R, Talbot K. Gordon D, et al. Among authors: davies b. Neurobiol Dis. 2019 Jan;121:148-162. doi: 10.1016/j.nbd.2018.09.024. Epub 2018 Oct 2. Neurobiol Dis. 2019. PMID: 30290270 Free article.
The technical risks of human gene editing.
Davies B. Davies B. Hum Reprod. 2019 Nov 1;34(11):2104-2111. doi: 10.1093/humrep/dez162. Hum Reprod. 2019. PMID: 31696232 Free PMC article.
2,339 results