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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.
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.
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.
An essential cell-autonomous role for hepcidin in cardiac iron homeostasis.
Lakhal-Littleton S, Wolna M, Chung YJ, Christian HC, Heather LC, Brescia M, Ball V, Diaz R, Santos A, Biggs D, Clarke K, Davies B, Robbins PA. Lakhal-Littleton S, et al. Among authors: davies b. Elife. 2016 Nov 29;5:e19804. doi: 10.7554/eLife.19804. Elife. 2016. PMID: 27897970 Free PMC 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