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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. Cells. 2023 Feb 24;12(5):721. doi: 10.3390/cells12050721. Cells. 2023. PMID: 36899856 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. 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.
The giant titin: how to evaluate its role in cardiomyopathies.
Azad A, Poloni G, Sontayananon N, Jiang H, Gehmlich K. Azad A, et al. J Muscle Res Cell Motil. 2019 Jun;40(2):159-167. doi: 10.1007/s10974-019-09518-w. Epub 2019 May 30. J Muscle Res Cell Motil. 2019. PMID: 31147888 Free PMC article. Review.
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. 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.