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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: watkins h. 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.
A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy.
Ashrafian H, Docherty L, Leo V, Towlson C, Neilan M, Steeples V, Lygate CA, Hough T, Townsend S, Williams D, Wells S, Norris D, Glyn-Jones S, Land J, Barbaric I, Lalanne Z, Denny P, Szumska D, Bhattacharya S, Griffin JL, Hargreaves I, Fernandez-Fuentes N, Cheeseman M, Watkins H, Dear TN. Ashrafian H, et al. Among authors: watkins h. PLoS Genet. 2010 Jun 24;6(6):e1001000. doi: 10.1371/journal.pgen.1001000. PLoS Genet. 2010. PMID: 20585624 Free PMC article.
Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.
Hoskins AC, Jacques A, Bardswell SC, McKenna WJ, Tsang V, dos Remedios CG, Ehler E, Adams K, Jalilzadeh S, Avkiran M, Watkins H, Redwood C, Marston SB, Kentish JC. Hoskins AC, et al. Among authors: watkins h. J Mol Cell Cardiol. 2010 Nov;49(5):737-45. doi: 10.1016/j.yjmcc.2010.06.006. Epub 2010 Jul 6. J Mol Cell Cardiol. 2010. PMID: 20615414 Free PMC article.
The role of vascular myoglobin in nitrite-mediated blood vessel relaxation.
Ormerod JO, Ashrafian H, Maher AR, Arif S, Steeples V, Born GV, Egginton S, Feelisch M, Watkins H, Frenneaux MP. Ormerod JO, et al. Among authors: watkins h. Cardiovasc Res. 2011 Feb 15;89(3):560-5. doi: 10.1093/cvr/cvq299. Epub 2010 Oct 1. Cardiovasc Res. 2011. PMID: 20889759 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: watkins h. PLoS One. 2012;7(10):e46256. doi: 10.1371/journal.pone.0046256. Epub 2012 Oct 17. PLoS One. 2012. PMID: 23082118 Free PMC article.
Resistance of Dynamin-related Protein 1 Oligomers to Disassembly Impairs Mitophagy, Resulting in Myocardial Inflammation and Heart Failure.
Cahill TJ, Leo V, Kelly M, Stockenhuber A, Kennedy NW, Bao L, Cereghetti GM, Harper AR, Czibik G, Liao C, Bellahcene M, Steeples V, Ghaffari S, Yavari A, Mayer A, Poulton J, Ferguson DJ, Scorrano L, Hettiarachchi NT, Peers C, Boyle J, Hill RB, Simmons A, Watkins H, Dear TN, Ashrafian H. Cahill TJ, et al. Among authors: watkins h. J Biol Chem. 2015 Oct 23;290(43):25907-19. doi: 10.1074/jbc.M115.665695. Epub 2015 Sep 14. J Biol Chem. 2015. PMID: 26370078 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: watkins h. 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.
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R, de Villiers CP, Hooper C, Ormondroyd L, Pagnamenta A, Lise S, Salatino S, Knight SJ, Taylor JC, Thomson KL, Arnold L, Chatziefthimiou SD, Konarev PV, Wilmanns M, Ehler E, Ghisleni A, Gautel M, Blair E, Watkins H, Gehmlich K. Hastings R, et al. Among authors: watkins h. Circ Cardiovasc Genet. 2016 Oct;9(5):426-435. doi: 10.1161/CIRCGENETICS.116.001431. Epub 2016 Sep 13. Circ Cardiovasc Genet. 2016. PMID: 27625337 Free PMC article.
622 results