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Thomas C. Roberts

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Open access Aug 2026

Functional analysis of TTN uORFs reveals context-dependent translational regulation

Familial dilated cardiomyopathy (DCM) is a common condition with a high clinical burden, and no therapies that target the underlying genetic mechanisms. The leading genetic cause of DCM is heterozygous truncating variants in TTN, which are thought to drive disease through haploinsufficiency, where titin is reduced. Thi...

Rosemary B. Kirk, Alexander J. Sparrow, Marta Moya-Jódar et al. · 0 citations

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