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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.
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.
Cardiac ferroportin regulates cellular iron homeostasis and is important for cardiac function.
Lakhal-Littleton S, Wolna M, Carr CA, Miller JJ, Christian HC, Ball V, Santos A, Diaz R, Biggs D, Stillion R, Holdship P, Larner F, Tyler DJ, Clarke K, Davies B, Robbins PA. Lakhal-Littleton S, et al. Among authors: davies b. Proc Natl Acad Sci U S A. 2015 Mar 10;112(10):3164-9. doi: 10.1073/pnas.1422373112. Epub 2015 Feb 23. Proc Natl Acad Sci U S A. 2015. PMID: 25713362 Free PMC article.
2,339 results