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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: hooper c. 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.
MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy.
Lange S, Gehmlich K, Lun AS, Blondelle J, Hooper C, Dalton ND, Alvarez EA, Zhang X, Bang ML, Abassi YA, Dos Remedios CG, Peterson KL, Chen J, Ehler E. Lange S, et al. Among authors: hooper c. Nat Commun. 2016 Jun 29;7:12120. doi: 10.1038/ncomms12120. Nat Commun. 2016. PMID: 27353086 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: hooper c. 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.
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: hooper c. 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.
326 results