Charlotte Hooper
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View article: Filamin C dimerisation is regulated by HSPB7
Filamin C dimerisation is regulated by HSPB7 Open
The biomechanical properties and responses of tissues underpin a variety important of physiological functions and pathologies. In striated muscle, the actin-binding protein filamin C (FLNC) is a key protein whose variants causative for a w…
View article: Why Do Emergency Medical Service Employees (Not) Seek Organizational Help for Mental Health Support?: A Systematic Review
Why Do Emergency Medical Service Employees (Not) Seek Organizational Help for Mental Health Support?: A Systematic Review Open
Emergency medical service (EMS) ambulance employees play a critical role in emergency healthcare delivery. However, work-related experiences can compromise their mental health and job satisfaction. Despite available supportive services off…
View article: Modulating TTN gene expression in human iPSC-CMs to investigate mechanisms and therapies in TTN-associated dilated cardiomyopathy
Modulating TTN gene expression in human iPSC-CMs to investigate mechanisms and therapies in TTN-associated dilated cardiomyopathy Open
Background Familial dilated cardiomyopathy (DCM) is a common and harmful condition, and no available therapies target the underlying genetic mechanisms. Truncating variants in TTN are the most commonly identified genetic cause of DCM. Howe…
View article: Why is early-onset atrial fibrillation uncommon in patients with Duchenne muscular dystrophy? Insights from the <i>mdx</i> mouse
Why is early-onset atrial fibrillation uncommon in patients with Duchenne muscular dystrophy? Insights from the <i>mdx</i> mouse Open
Aims A reduction in both dystrophin and neuronal nitric oxide synthase (NOS1) secondary to microRNA-31 (miR-31) up-regulation contributes to the atrial electrical remodelling that underpins human and experimental atrial fibrillation (AF). …
View article: Cardiac stress leads to regulation of Filamin C dimerisation via an ancient phosphorylation-modulated interaction with HSPB7
Cardiac stress leads to regulation of Filamin C dimerisation via an ancient phosphorylation-modulated interaction with HSPB7 Open
The biomechanical properties and responses of tissues underpin a variety of physiological functions and pathologies. In striated muscle, the actin-binding protein filamin C (FLNC) is a key protein whose variants causative for a wide range …
View article: Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in ACTN2 Open
Pathogenic variants in ACTN2, coding for alpha-actinin 2, are known to be rare causes of Hypertrophic Cardiomyopathy. However, little is known about the underlying disease mechanisms. Adult heterozygous mice carrying the Actn2 p.Met228Thr …
View article: BS30 Crucial functions of alpha-actinin2 in the embryonic heart
BS30 Crucial functions of alpha-actinin2 in the embryonic heart Open
Introduction Alpha-actinin is an integral protein of the Z-discs in heart and skeletal muscle cells, with important structural and signalling functions. Missense variants in alpha-actinin can cause inherited conditions, e.g. myopathies and…
View article: Exploring the contribution of mechano-sensing to cardiomyopathy
Exploring the contribution of mechano-sensing to cardiomyopathy Open
Funding Acknowledgements Type of funding sources: Foundation. Main funding source(s): Medical Research Council (MR/V009540/1), Wellcome Trust (201543/B/16/Z) British Heart Foundation (FS/12/40/29712). Hypertrophic cardiomyopathy (HCM) is a…
View article: Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion
Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion Open
Cysteine and glycine rich protein 3 (CSRP3) encodes Muscle LIM Protein (MLP), a well-established disease gene for Hypertrophic Cardiomyopathy (HCM). MLP, in contrast to the proteins encoded by the other recognised HCM disease genes, is non…
View article: Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction Open
Background— High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mut…