Matthew R.G. Taylor
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View article: Activity of Cardiomyocyte Type 3 Deiodinase After Myocardial Infarction Influences Cardiac Recovery in Females
Activity of Cardiomyocyte Type 3 Deiodinase After Myocardial Infarction Influences Cardiac Recovery in Females Open
Thyroid hormone (TH) is essential for cardiovascular function, and women are disproportionately affected by TH disorders and experience worse outcomes following myocardial infarction (MI). However, the role of sex-specific TH regulation in…
View article: Characterization of an immunodeficiency-associated EZH2 variant
Characterization of an immunodeficiency-associated EZH2 variant Open
Regulation of gene expression is central to the development of immune cells and their ability to respond to infection. As part of a clinical evaluation, we identified two sisters with recurrent infections, hypogammaglobulinemia, and memory…
View article: Visual Recovery Reflects Cortical <scp>MeCP2</scp> Sensitivity in Rett Syndrome
Visual Recovery Reflects Cortical <span>MeCP2</span> Sensitivity in Rett Syndrome Open
Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties…
View article: P094 A case of severe and rapidly-progressive Ro-52-associated dermatomyositis: home to intensive care and back again
P094 A case of severe and rapidly-progressive Ro-52-associated dermatomyositis: home to intensive care and back again Open
Introduction This case describes a 65-year-old female presenting with life-threatening Ro-52-associated dermatomyositis, from the community to intensive care to the ward to the rehabilitation unit, and, finally, home again.This patient pre…
View article: Impact of genotype–phenotype associations on prognosis in dilated cardiomyopathy
Impact of genotype–phenotype associations on prognosis in dilated cardiomyopathy Open
Aims Dilated cardiomyopathy (DCM) has a monogenic aetiology in up to 40% of patients. Understanding the spectrum of genotype–phenotype associations in DCM is crucial for risk stratification and personalized treatment. We aimed to (i) chara…
View article: The contribution of <i>RBM20</i> truncating variants to human cardiomyopathy
The contribution of <i>RBM20</i> truncating variants to human cardiomyopathy Open
Background Genetic diagnosis has become increasingly important to guide clinical decision making for patients with dilated cardiomyopathy (DCM). Disease-causing (P/LP) missense variants in the gene RBM20 cause a highly penetrant arrhythmog…
View article: Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Titin-related familial dilated cardiomyopathy: factors associated with disease onset Open
Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated w…
View article: Genetic and Phenotypic Characterization of Nexilin (NEXN)–Related Cardiomyopathy
Genetic and Phenotypic Characterization of Nexilin (NEXN)–Related Cardiomyopathy Open
NEXNtvs were significantly associated with DCM/NDLVC, characterized by mild cardiac abnormalities, infrequent heart failure, common fibrosis, and arrhythmias. This largest NEXN variant carrier cohort to date contributes to defining the cau…
View article: Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy
Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy Open
Background Desmoplakin (DSP) cardiomyopathy, caused by variants in the gene DSP , is a unique subtype of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathies. Specific diagnostic and disease sta…
View article: Unlocking efficiency in column chromatography with packed bed supporting inserts
Unlocking efficiency in column chromatography with packed bed supporting inserts Open
To purify increasing amounts of biotherapeutics more efficiently, the use of high flow rates or greater resin bed heights during downstream chromatography steps is a tantalizing option. A limitation of utilizing high flow rates is the diff…
View article: Cytoplasmic CaMKIIδ-B prevents myocardial recovery in heart failure
Cytoplasmic CaMKIIδ-B prevents myocardial recovery in heart failure Open
Restoration of cardiac function in patients with advanced heart failure is rare, and the molecular processes that regulate recovery are unknown. To identify potential mechanisms, we studied paired myocardial samples before and after left v…
View article: Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non‐dilated cardiomyopathy
Integrated role of cardiac magnetic resonance and genetics in predicting left ventricular reverse remodelling in dilated and non‐dilated cardiomyopathy Open
Aims Left ventricular reverse remodelling (LVRR) is a prognostic marker in patients with dilated (DCM) and non‐dilated left ventricular cardiomyopathy (NDLVC). The utility of combining late gadolinium enhancement (LGE) and genetic testing …
View article: NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes
NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes Open
The NAXCARE (NAXos disease and Cardiocutaneous Assessment and Registry for Evaluation) is a global initiative designed to collect, store, and analyze clinical outcomes data on patients with Naxos disease and related cardiocutaneous syndrom…
View article: An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes
An International Longitudinal Natural History Study of Patients With Danon Disease: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes Open
Background Danon disease is a rare X‐linked dominant cardioskeletal myopathy caused by mutations in the lysosome‐associated membrane protein‐2 gene. Though the severe morbidity of disease in men is well established, longitudinal studies de…
View article: Heart Rate Reduction Is Associated With Reverse Left Ventricular Remodeling and Mechanism-Specific Molecular Phenotypes in Dilated Cardiomyopathy
Heart Rate Reduction Is Associated With Reverse Left Ventricular Remodeling and Mechanism-Specific Molecular Phenotypes in Dilated Cardiomyopathy Open
BACKGROUND: Heart rate (HR) affects heart failure outcomes, via uncertain mechanisms that may include left ventricular remodeling. However, in human ventricular myocardium, HR change has not been associated with a particular remodeling mol…
View article: Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed
Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed Open
Most genetic variants associated with complex traits and diseases occur in non-coding genomic regions and are hypothesized to regulate gene expression. To understand the genetics underlying gene expression variability, we characterize 14,3…
View article: Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Genome sequencing reveals the impact of pseudoexons in rare genetic disease Open
Purpose Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to addres…
View article: Clinical features and outcomes in carriers of pathogenic desmoplakin variants
Clinical features and outcomes in carriers of pathogenic desmoplakin variants Open
Background and Aims Pathogenic variants in the desmoplakin (DSP) gene are associated with the development of a distinct arrhythmogenic cardiomyopathy phenotype not fully captured by either dilated cardiomyopathy (DCM), non-dilated left ven…
View article: Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial
Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial Open
BACKGROUND: The health-related quality of life (HRQOL) and cardiopulmonary exercise testing (CPET) performance of individuals with subclinical and early stage hypertrophic cardiomyopathy (HCM) have not been systematically studied. Improved…
View article: REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic <i>LMNA</i> -Related Dilated Cardiomyopathy
REALM-DCM: A Phase 3, Multinational, Randomized, Placebo-Controlled Trial of ARRY-371797 in Patients With Symptomatic <i>LMNA</i> -Related Dilated Cardiomyopathy Open
BACKGROUND: LMNA ( lamin A/C )-related dilated cardiomyopathy is a rare genetic cause of heart failure. In a phase 2 trial and long-term extension, the selective p38α MAPK (mitogen-activated protein kinase) inhibitor, ARRY-371797 (PF-07265…
View article: An International Longitudinal Natural History Study of Danon Disease Patients: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes
An International Longitudinal Natural History Study of Danon Disease Patients: Unique Cardiac Trajectories Identified Based on Sex and Heart Failure Outcomes Open
Introduction Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy caused by mutations in the lysosome-associated membrane protein-2 gene. Though the severe morbidity of disease in males is well established, longitudinal s…
View article: Defective Biomechanics and Pharmacological Rescue of Human Cardiomyocytes with Filamin C Truncations
Defective Biomechanics and Pharmacological Rescue of Human Cardiomyocytes with Filamin C Truncations Open
Actin-binding filamin C (FLNC) is expressed in cardiomyocytes, where it localizes to Z-discs, sarcolemma, and intercalated discs. Although FLNC truncation variants (FLNCtv) are an established cause of arrhythmias and heart failure, changes…
View article: Role of Arrhythmic Phenotype in Prognostic Stratification and Management of Dilated Cardiomyopathy
Role of Arrhythmic Phenotype in Prognostic Stratification and Management of Dilated Cardiomyopathy Open
Aims Dilated cardiomyopathy (DCM) with arrhythmic phenotype combines phenotypical aspects of DCM and predisposition to ventricular arrhythmias, typical of arrhythmogenic cardiomyopathy. The definition of DCM with arrhythmic phenotype is no…