Thomas V. McDonald
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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: Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome
Hypertrophic cardiomyopathy and long QT syndrome in cardiac-only Timothy syndrome Open
While structural heart disease and cardiac channelopathies are often considered to have unique molecular mechanisms, genetic variations in the CACNA1C gene have been associated with hypertrophic cardiomyopathy (HCM) or long QT syndrome (LQ…
View article: The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing Open
Background The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase a…
View article: Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes
Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes Open
Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encode…
View article: Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse LMNA mutations
Corrigendum: Phenotypic variability in iPSC-induced cardiomyocytes and cardiac fibroblasts carrying diverse LMNA mutations Open
[This corrects the article DOI: 10.3389/fphys.2021.778982.].
View article: Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations
Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations Open
Mutations in the LMNA gene (encoding lamin A/C) are a significant cause of familial arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable phenotypic variability in disease onset, rate of progression, arrhyth…
View article: Laminin switches terminal differentiation fate of human trophoblast stem cells under chemically defined culture conditions
Laminin switches terminal differentiation fate of human trophoblast stem cells under chemically defined culture conditions Open
Human trophoblast stem cells (hTSCs) have emerged as a powerful tool to model early placental development in vitro. Analogous to the epithelial cytotrophoblast in the placenta, hTSCs can differentiate into cells of the extravillous trophob…
View article: Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA)
Establishment of an arrhythmogenic right ventricular cardiomyopathy derived iPSC cell line (USFi004-A) carrying a heterozygous mutation in PKP2 (c.1799delA) Open
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being de…
View article: Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C)
Generation of an iPSC cell line (USFi003-A) from a patient with dilated cardiomyopathy carrying a heterozygous mutation in LMNA (p.R541C) Open
Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Her…
View article: Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy
Generation of a heterozygous FLNC mutation-carrying human iPSC line, USFi002-A, for modeling dilated cardiomyopathy Open
Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been lin…
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented popula…
View article: In vitro and in vivo cardiac toxicity of flavored electronic nicotine delivery systems
In vitro and in vivo cardiac toxicity of flavored electronic nicotine delivery systems Open
The use of electronic nicotine delivery systems (ENDS) is not harm free. It is not known whether ENDS negatively affect cardiac electrophysiological function. Our study in cell lines and in mice shows that ENDS can compromise cardiac elect…
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
BackgroundIncreasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented populat…
View article: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children Open
Background Increasingly, genomics is informing clinical practice, but challenges remain for medical professionals lacking genetics expertise, and in access to and clinical utility of genomic testing for minority and underrepresented popula…
View article: A Meta Study Of Discrete Event Modeling And Simulation (Des) Used By Healthcare Industries
A Meta Study Of Discrete Event Modeling And Simulation (Des) Used By Healthcare Industries Open
NOTE: The first page of text has been automatically extracted and included below in lieu of an abstract A Meta Study of Discrete Event Modeling and Simulation (DES) Used by Healthcare Industries Introduction Discrete event modeling and sim…
View article: Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes
Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes Open
Background: Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management r…
View article: Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits
Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits Open
The cardiac potassium I Ks current is carried by a channel complex formed from α-subunits encoded by KCNQ1 and β-subunits encoded by KCNE1. Deleterious mutations in either gene are associated with hereditary long QT syndrome. Interactions …
View article: Corrigendum
Corrigendum Open
An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome Marika L. Osterbur, Renjian Zheng, Robert Marion, Christine Walsh, and Thomas V. McDonald Human Mutation 36; 764–773, 2015 https://doi.org/10.1002/humu.22805 In the ab…
View article: Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel
Synonymous nucleotide modification of the KCNH2 gene affects both mRNA characteristics and translation of the encoded hERG ion channel Open
Synonymous nucleotide variation is increasingly recognized as a factor than can affect protein expression, but the underlying mechanisms are incompletely understood. Here, we investigated whether synonymous changes could affect expression …
View article: Functional Assays to Screen and Dissect Genomic Hits
Functional Assays to Screen and Dissect Genomic Hits Open
The National Institutes of Health have made substantial investments in genomic studies and technologies to identify DNA sequence variants associated with human disease phenotypes. The National Heart, Lung, and Blood Institute has been at t…
View article: Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths
Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths Open
Background— Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance,…
View article: Compound heterozygous <i><scp>CASQ</scp>2</i> mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia
Compound heterozygous <i><span>CASQ</span>2</i> mutations and long‐term course of catecholaminergic polymorphic ventricular tachycardia Open
Background Catecholaminergic polymorphic ventricular tachycardia ( CPVT ) is a potentially lethal inherited cardiac disorder characterized by episodic ventricular tachycardia during adrenergic stimulation. It is associated with significant…
View article: Express with caution: Epitope tags and cDNA variants effects on hERG channel trafficking, half‐life and function
Express with caution: Epitope tags and cDNA variants effects on hERG channel trafficking, half‐life and function Open
Introduction Genetic mutations in KCNH2, which encodes hERG, the alpha subunit of the potassium channel responsible for the I Kr current, cause long QT syndrome (LQTS), an inherited cardiac arrhythmia disorder. Electrophysiology techniques…