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Search results (25)

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Hypertrophic cardiomyopathy caused by Filamin-C (FLNC) variants has restrictive and extracardiac features and a distinctive ECG.

de Villiers C. et al, (2026), Heart Rhythm

Assaying the myosin super-relaxed state across muscle types, cells and proteins for understanding muscle biology and use in drug discovery.

Jones STM. et al, (2025), Nat Protoc

Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.

Pal N. et al, (2024), FASEB J, 38

Comparing the effects of chemical Ca2+ dyes and R-GECO on contractility and Ca2+ transients in adult and human iPSC cardiomyocytes.

Robinson P. et al, (2023), J Mol Cell Cardiol, 180, 44 - 57

Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2.

Broadway-Stringer S. et al, (2023), Cells, 12

ctivation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations.

Choudhary GS. et al, (2022), Elife, 11

CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes.

Psaras Y. et al, (2021), Circ Res, 129, 326 - 341

Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Jiang H. et al, (2021), Basic Res Cardiol, 116

U2AF1 mutations induce oncogenic IRAK4 isoforms and activate innate immune pathways in myeloid malignancies.

Smith MA. et al, (2019), Nat Cell Biol, 21, 640 - 650

Cell-specific proteome analyses of human bone marrow reveal molecular features of age-dependent functional decline.

Hennrich ML. et al, (2018), Nat Commun, 9

Impact of spliceosome mutations on RNA splicing in myelodysplasia: dysregulated genes/pathways and clinical associations.

Pellagatti A. et al, (2018), Blood, 132, 1225 - 1240

Splicing factor mutations in the myelodysplastic syndromes: target genes and therapeutic approaches.

Armstrong RN. et al, (2018), Adv Biol Regul, 67, 13 - 29

Mammalian γ2 AMPK regulates intrinsic heart rate.

Yavari A. et al, (2017), Nat Commun, 8

The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

Yip BH. et al, (2017), J Clin Invest, 127

The U2AF1S34F mutation induces lineage-specific splicing alterations in myelodysplastic syndromes.

Yip BH. et al, (2017), J Clin Invest, 127, 2206 - 2221

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