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Publications

AnALPK3truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Leinhos L. et al, (2024)

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model

Patel L. et al, (2024), Molecular Genetics and Metabolism, 143

PITX2 deficiency leads to atrial mitochondrial dysfunction

Reyat JS. et al, (2024), Cardiovascular Research

Reply to "letter to the editor: Defining the cardiovascular phenotype of adults with Alström syndrome".

Roy A. et al, (2024), Int J Cardiol, 414

Gender Distribution of Scientific Prizes Is Associated with Naming of Awards after Men, Women or Neutral

Gehmlich K. and Krause S., (2024), Data, 9

Defining the cardiovascular phenotype of adults with Alström syndrome.

Roy A. et al, (2024), Int J Cardiol, 409

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy.

McKay EJ. et al, (2024), Dis Model Mech

Endurance Training Provokes Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Heterozygous Desmoglein-2 Mutants: Alleviation by Preload Reduction

Fabritz L. et al, (2024), Biomedicines, 12

Arrhythmogenesis in Fabry Disease.

Roy A. et al, (2024), Curr Cardiol Rep

Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse.

Sommerfeld LC. et al, (2024), J Physiol

Cardiac stress leads to regulation of Filamin C dimerisation via an ancient phosphorylation-modulated interaction with HSPB7

Wang Z. et al, (2024)

How we name academic prizes matters.

Gehmlich K. and Krause S., (2023), Nat Hum Behav

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?

Patel L. et al, (2023), Geroscience

Chronic activation of human cardiac fibroblasts in vitro attenuates the reversibility of the myofibroblast phenotype.

Hall C. et al, (2023), Sci Rep, 13

The Utilisation of Hydrogels for iPSC-Cardiomyocyte Research.

Patel L. et al, (2023), Int J Mol Sci, 24

Should young athletes be screened for cardiomyopathies to reduce the burden of sudden cardiac death in athletes?

GEHMLICH K. and VILLARROEL M., (2023), Biophysical Reviews

Structural and Signaling Proteins in the Z-disk and their Role in Cardiomyopathies

GEHMLICH K. and Noureddine M., (2023), Frontiers in Physiology

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

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

Generation of a human iPSC-derived cardiomyocyte/fibroblast engineered heart tissue model.

Cumberland MJ. et al, (2023), F1000Res, 12

Familial atrial fibrillation mutation M1875T-SCN5A increases early sodium current and dampens the effect of flecainide.

O'Reilly M. et al, (2022), Europace

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