CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy

Mosqueira, Diogo; Mannhardt, Ingra; Bhagwan, Jamie R.; Lis-Slimak, Katarzyna; Katili, Puspita; Scott, Elizabeth; Hassan, Mustafa; Prondzynski, Maksymilian; Harmer, Stephen C.; Tinker, Andrew; Smith, James G.W.; Carrier, Lucie; Williams, Philip M.; Gaffney, Daniel; Eschenhagen, Thomas; Hansen, Arne; Denning, Chris

doi:10.1093/eurheartj/ehy249

All Outputs (9)

OptoRheo: Simultaneous in situ micro-mechanical sensing and imaging of live 3D biological systems (2023)
Journal Article

Biomechanical cues from the extracellular matrix (ECM) are essential for directing many cellular processes, from normal development and repair, to disease progression. To better understand cell-matrix interactions, we have developed a new instrument... Read More about OptoRheo: Simultaneous in situ micro-mechanical sensing and imaging of live 3D biological systems.

OptoRheo: Simultaneous in situ micro-mechanical sensing and 3D imaging of live cell cultures (2023)
Working Paper

Biomechanical cues from the extracellular matrix (ECM) are essential for directing many cellular processes, from normal development and repair, to disease progression. To better understand cell-matrix interactions, we have developed a new instrument... Read More about OptoRheo: Simultaneous in situ micro-mechanical sensing and 3D imaging of live cell cultures.

Performance evaluation of a non-invasive one-step multiplex RT-qPCR assay for detection of SARS-CoV-2 direct from saliva (2022)
Journal Article

Polymerase chain reaction (PCR) has proven to be the gold-standard for SARS-CoV-2 detection in clinical settings. The most common approaches rely on nasopharyngeal specimens obtained from swabs, followed by RNA extraction, reverse transcription and q... Read More about Performance evaluation of a non-invasive one-step multiplex RT-qPCR assay for detection of SARS-CoV-2 direct from saliva.

Direct RT-qPCR Assay for the Detection of SARS-CoV-2 in Saliva Samples (2022)
Journal Article

Since mid-2020 there have been complexities and difficulties in the standardisation and administration of nasopharyngeal swabs. Coupled with the variable and/or poor accuracy of lateral flow devices, this has led to increased societal ‘testing fatigu... Read More about Direct RT-qPCR Assay for the Detection of SARS-CoV-2 in Saliva Samples.

Saliva for COVID-19 testing: Simple but useless or an undervalued resource? (2021)
Journal Article

During the COVID-19 pandemic, countries with robust population-based asymptomatic testing were generally successful in controlling virus spread, hence reducing hospitalizations and deaths. This effectiveness inspired widespread asymptomatic surveilla... Read More about Saliva for COVID-19 testing: Simple but useless or an undervalued resource?.

Preparation of a User-Defined Peptide Gel for Controlled 3D Culture Models of Cancer and Disease (2020)
Journal Article

There is a growing awareness that cells grown in 3D better model in vivo behavior than those grown in 2D. In this protocol, we describe a simple and tunable 3D hydrogel, suitable for culturing cells and tissue in a setting that matches their native e... Read More about Preparation of a User-Defined Peptide Gel for Controlled 3D Culture Models of Cancer and Disease.

High-Throughput Phenotyping Toolkit for Characterizing Cellular Models of Hypertrophic Cardiomyopathy in Vitro (2019)
Journal Article

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.

Peptide gels of fully-defined composition and mechanics for probing cell-cell and cell-matrix interactions in vitro (2019)
Journal Article

© 2019 Current materials used for in vitro 3D cell culture are often limited by their poor similarity to human tissue, batch-to-batch variability and complexity of composition and manufacture. Here, we present a “blank slate” culture environment base... Read More about Peptide gels of fully-defined composition and mechanics for probing cell-cell and cell-matrix interactions in vitro.

CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy (2018)
Journal Article

Aims: Sarcomeric gene mutations frequently underlie hypertrophic cardiomyopathy (HCM), a prevalent and complex condition leading to left ventricle thickening and heart dysfunction. We evaluated isogenic genome-edited human pluripotent stem cell-cardi... Read More about CRISPR/Cas9 editing in human pluripotent stem cell-cardiomyocytes highlights arrhythmias, hypocontractility, and energy depletion as potential therapeutic targets for hypertrophic cardiomyopathy.