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All Outputs (4)

Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy (2020)
Journal Article
Kargaran, P. K., Evans, J. M., Bodbin, S. E., Smith, J. G. W., Nelson, T. J., Denning, C., & Mosqueira, D. (2020). Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy. Journal of Clinical Medicine, 9(8), Article 2349. https://doi.org/10.3390/jcm9082349

Hypertrophic cardiomyopathy (HCM) is a prevalent and untreatable cardiovascular disease with a highly complex clinical and genetic causation. HCM patients bearing similar sarcomeric mutations display variable clinical outcomes, implying the involveme... Read More about Mitochondrial DNA: Hotspot for Potential Gene Modifiers Regulating Hypertrophic Cardiomyopathy.

Variable expression and silencing of CRISPR-Cas9 targeted transgenes identifies the AAVS1 locus as not an entirely safe harbour (2019)
Journal Article
Bhagwan, J. R., Collins, E., Mosqueira, D., Bakar, M., Johnson, B. B., Thompson, A., …Denning, C. (in press). Variable expression and silencing of CRISPR-Cas9 targeted transgenes identifies the AAVS1 locus as not an entirely safe harbour. F1000Research, 8, Article 1911. https://doi.org/10.12688/f1000research.19894.1

Background: Diseases such as hypertrophic cardiomyopathy (HCM) can lead to severe outcomes including sudden death. The generation of human induced pluripotent stem cell (hiPSC) reporter lines can be useful for disease modelling and drug screening by... Read More about Variable expression and silencing of CRISPR-Cas9 targeted transgenes identifies the AAVS1 locus as not an entirely safe harbour.

High-Throughput Phenotyping Toolkit for Characterizing Cellular Models of Hypertrophic Cardiomyopathy in Vitro (2019)
Journal Article
Mosqueira, D., Lis-Slimak, K., & Denning, C. (2019). High-Throughput Phenotyping Toolkit for Characterizing Cellular Models of Hypertrophic Cardiomyopathy in Vitro. Methods and Protocols, 2(4), 1-26. https://doi.org/10.3390/mps2040083

Hypertrophic cardiomyopathy (HCM) is a prevalent and complex cardiovascular disease characterised by multifarious hallmarks, a heterogeneous set of clinical manifestations, and several molecular mechanisms. Various disease models have been developed... Read More about High-Throughput Phenotyping Toolkit for Characterizing Cellular Models of Hypertrophic Cardiomyopathy in Vitro.

Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention (2019)
Journal Article
Bhagwan, J. R., Smith, J. G., Mosqueira, D., Smith, J. G. W., Bhagwan, J. R., & Denning, C. (2019). Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention. Trends in Molecular Medicine, 25(9), 775-790. https://doi.org/10.1016/j.molmed.2019.06.005

HCM is a prevalent and complex disease governed by multiple molecular mechanisms, and there is currently no efficient cure. New treatment strategies are under development, and several drugs are reaching the final stages of clinical trials, with parti... Read More about Modeling Hypertrophic Cardiomyopathy: Mechanistic Insights and Pharmacological Intervention.