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List of works by Hugh Christian Watkins

(31)P cardiac magnetic resonance spectroscopy during leg exercise at 3 Tesla

scientific article published on 21 August 2009

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

scientific article published on 29 August 2014

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

scientific article published on 01 May 1995

A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

scientific article

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

scientific article published on 01 January 1998

A common LPA null allele associates with lower lipoprotein(a) levels and coronary artery disease risk.

scientific article

A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations

scientific article

A commonly occurring polymorphism upstream of the estrogen receptor alpha alters transcription and is associated with increased HDL.

scientific article published on 21 February 2008

A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease

scientific article

A dinucleotide repeat polymorphism in the MYBPH gene

article

A dinucleotide repeat polymorphism in the human LAMB2 gene on chromosome 1q.

scientific article

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.

scientific article published in April 1993

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

scientific article

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

scientific article

A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure

scientific article published on 10 April 2019

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy

scientific article

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1

scientific article published on June 1, 1995

A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy

scientific journal article

A novel common single nucleotide polymorphism in the promoter region of the C-reactive protein gene associated with the plasma concentration of C-reactive protein.

scientific article published on January 2005

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families.

scientific article

A revised method of troponin exchange in permeabilised cardiac trabeculae using vanadate: functional consequences of a HCM-causing mutation in troponin I

A trinucleotide repeat polymorphism in XT00444 (D13S635E).

scientific article published in July 1994

AMP-activated protein kinase phosphorylates cardiac troponin I and alters contractility of murine ventricular myocytes

scientific article

Adult height, coronary heart disease and stroke: a multi-locus Mendelian randomization meta-analysis

scientific article published in December 2016

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

scientific article

Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

scientific article

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

scientific article

Ambulatory blood pressure is associated with polymorphic variation in P2X receptor genes.

scientific article published on 13 October 2008

An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations

article

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

scientific article published on 24 April 2018

Analysis of protein-coding genetic variation in 60,706 humans

scientific article (publication date: 17 August 2016)

Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease

scientific article

Animal models of familial hypertrophic cardiomyopathy

scientific article published on 01 December 1999

Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism

scientific article published in August 2012

Arrhythmogenic right ventricular cardiomyopathy type 6 (ARVC6): support for the locus assignment, narrowing of the critical region and mutation screening of three candidate genes

scientific article

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

scientific article published in July 2003

Assigning a causal role to genetic variants in hypertrophic cardiomyopathy

scientific article published in February 2013

Assignment of a locus for dominantly inherited venous malformations to chromosome 9p

scientific article

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association between Aldosterone Production and Variation in the 11β-Hydroxylase (CYP11B1) Gene

article

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data

scientific article

Association between common polymorphisms of the proopiomelanocortin gene and body fat distribution: a family study.

scientific article published in August 2005

Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis

scientific article published on 23 January 2013

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks

scientific article

Bayesian methods for meta-analysis of causal relationships estimated using genetic instrumental variables

scientific article published on May 2010

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

scientific article published on 12 March 2021

Blood pressure loci identified with a gene-centric array

scientific article

Blunted myocardial oxygenation response during vasodilator stress in patients with hypertrophic cardiomyopathy

scientific article published on March 2013

Cardiac and skeletal actin gene mutations are not a common cause of dilated cardiomyopathy

scientific article

Cardiac myosin binding protein C: its role in physiology and disease

scientific article

Cardiac nitric oxide synthase 1 regulates basal and beta-adrenergic contractility in murine ventricular myocytes

scientific article

Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study

scientific article

Changes in creatine transporter function during cardiac maturation in the rat.

scientific article

Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations.

scientific article

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

scientific article published in April 1992

Characterization of the role of gamma2 R531G mutation in AMP-activated protein kinase in cardiac hypertrophy and Wolff-Parkinson-White syndrome

scientific article published on 9 December 2005

Chlamydia trachomatis plasmid-encoded Pgp4 is a transcriptional regulator of virulence-associated genes

scientific article published on 14 January 2013

Chronic Activation of γ2 AMPK Induces Obesity and Reduces β Cell Function

scientific article published on 26 April 2016

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

article

Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

scientific article published on 2 March 2016

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.

scientific article published on 13 September 2016

Common Variation at the 11-β Hydroxysteroid Dehydrogenase Type 1 Gene Is Associated With Left Ventricular Mass

article

Common and Rare Genetic Variation in CCR2, CCR5, or CX3CR1 and Risk of Atherosclerotic Coronary Heart Disease and Glucometabolic Traits

scientific article published on 24 March 2016

Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease

scientific article

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass

scientific article published on April 2011

Coronary artery disease genetics: bigger is better

article

Coronary artery disease-related genetic variant on chromosome 10q11 is associated with carotid intima-media thickness and atherosclerosis

scientific article published on 16 September 2010

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

Current state of knowledge on aetiology, diagnosis, management, and therapy of peripartum cardiomyopathy: a position statement from the Heart Failure Association of the European Society of Cardiology Working Group on peripartum cardiomyopathy

scientific article published on August 2010

DNA Sequence Variation in Encoding the Activin-Receptor Like Kinase 7 Influences Body Fat Distribution and Protects Against Type 2 Diabetes

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

scientific article published on 18 March 2010

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

scientific article published on 11 January 2017

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Derangement of cardiac energy metabolism is acutely exacerbated during exercise in hypertrophic cardiomyopathy, independent of hypertrophy or late gadolinium burden.

scientific article published in February 2012

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaborat

scientific article published on 12 February 2015

Determination of AMP-activated protein kinase phosphorylation sites in recombinant protein expressed using the pET28a vector: a cautionary tale

scientific article published on 6 March 2009

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

scientific article

Differentiation of Athlete's Heart from Pathological Forms of Cardiac Hypertrophy by Means of Geometric Indices Derived from Cardiovascular Magnetic Resonance

scientific article published on 01 January 2005

Dilated Cardiomyopathy and the Desmin Gene

article

Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments

scientific article published on 11 October 2007

Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

scientific article

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

scientific article published on 26 September 2016

Disease Pathways and Novel Therapeutic Targets in Hypertrophic Cardiomyopathy ⬇️

scientific article published on June 24, 2011

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Distribution and medical impact of loss-of-function variants in the Finnish founder population

scientific article

Dystrophinopathies are characterised by impaired cardiac metabolism, contractile dysfunction and fibrosis in patients with and without coxsackie B3 exposure.

scientific article published on 2 February 2011

Effect of Hypertrophic Cardiomyopathy Mutations in Human Cardiac Muscle α -tropomyosin (Asp175Asn and Glu180Gly) on the Regulatory Properties of Human Cardiac Troponin Determined by in vitro Motility Assay

Effect of Selective Heart Rate Slowing in Heart Failure With Preserved Ejection Fraction

scientific article

Effects of two hypertrophic cardiomyopathy mutations in alpha-tropomyosin, Asp175Asn and Glu180Gly, on Ca2+ regulation of thin filament motility.

scientific article published in July 1997

Electrocardiographic measures of left ventricular hypertrophy show greater heritability than echocardiographic left ventricular mass

scientific article

Embryonic expression of AMPK γ subunits and the identification of a novel γ2 transcript variant in adult heart

scientific article

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging

scientific article published on 23 April 2007

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

scientific article

Evolution of genetic analysis strategies in coronary heart disease: a case of unnatural selection?

scientific article

Exacerbation of cardiac energetic impairment during exercise in hypertrophic cardiomyopathy: a potential mechanism for diastolic dysfunction

scientific article published on 18 May 2015

Exercise-induced ventricular dysfunction in hypertrophic cardiomyopathy: stunning by any other name?

scientific article published on 01 October 2008

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

scientific article published on 26 September 2013

Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.

scientific article published on 21 May 2015

Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action

scientific article published on December 1996

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

scientific article

Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3

scientific article

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

scientific article

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

scientific article published on January 1995

Familial hypertrophic cardiomyopathy: man, mouse and cat

scientific article published on 01 December 1998

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

scientific article published on 22 May 2017

Four paraoxonase gene polymorphisms in 11212 cases of coronary heart disease and 12786 controls: meta-analysis of 43 studies

scientific article published in February 2004

Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway.

scientific article published in March 2012

Functional Polymorphism in the Regulatory Region of Gelatinase B Gene in Relation to Severity of Coronary Atherosclerosis

article

Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function

scientific article published on November 1998

Functional effects of the DCM mutant Gly159Asp Troponin C in skinned muscle fibres

article

Functional estrogen receptor alpha promoter polymorphism is associated with improved endothelial-dependent vasolidation

scientific article published on 20 January 2009

Functional significance of SRJ domain mutations in CITED2

scientific article (publication date: 2012)

Gender specific patterns of age-related decline in aortic stiffness: a cardiovascular magnetic resonance study including normal ranges

scientific article

Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia

scientific article

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci

scientific article published on 20 February 2014

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease

scientific article

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic association studies in coronary disease: the cause of GPIIb-IIIa polymorphisms

scientific article published on 01 May 1999

Genetic cardiomyopathies causing heart failure

scientific article published on August 2013

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

scientific article published in March 2003

Genetic determinants of plasma β₂-glycoprotein I levels: a genome-wide association study in extended pedigrees from Spain

scientific article

Genetic evidence of assortative mating in humans

article

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic susceptibility to coronary artery disease: from promise to progress.

scientific article

Genetic variants associated with Lp(a) lipoprotein level and coronary disease

scientific article published in December 2009

Genetic variants from lipid-related pathways and risk for incident myocardial infarction

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion.

scientific article published on 2 November 2004

Genetic variation at the matrix metalloproteinase-9 locus on chromosome 20q12.2-13.1

article published in 1999

Genetically determined height and coronary artery disease

scientific article

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association study identifies eight loci associated with blood pressure

scientific article (publication date: June 2009)

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

scientific article published on 16 October 2011

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide linkage analysis of electrocardiographic and echocardiographic left ventricular hypertrophy in families with hypertension

scientific article

Genome-wide mapping of susceptibility to coronary artery disease identifies a novel replicated locus on chromosome 17

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein

scientific article

Genotype at the -174G/C polymorphism of the interleukin-6 gene is associated with common carotid artery intimal-medial thickness: family study and meta-analysis.

scientific article published on 22 September 2005

Genotype at the P554L variant of the hexose-6 phosphate dehydrogenase gene is associated with carotid intima-medial thickness ⬇️

scientific article

Genotype: phenotype correlations in hypertrophic cardiomyopathy

scientific article published on 01 January 1998

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

scientific article published on August 2011

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

scientific article published on August 2011

Hazardous alcohol consumption is associated with increased levels of B-type natriuretic peptide: evidence from two population-based studies

scientific article published on 5 May 2013

Heart Rhythm UK position statement on clinical indications for implantable cardioverter defibrillators in adult patients with familial sudden cardiac death syndromes

scientific article published on 01 August 2010

Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

scientific article published in September 1999

Heterozygous disruption of SERCA2a is not associated with impairment of cardiac performance in humans: implications for SERCA2a as a therapeutic target in heart failure

scientific article published on 21 April 2005

Homocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias ⬇️

scientific article (publication date: February 2012)

HspB1 phosphorylation regulates its intramolecular dynamics and mechanosensitive molecular chaperone interaction with filamin C

scientific article published on 22 May 2019

Human genetic evidence for involvement of CD137 in atherosclerosis

scientific article

Human stromelysin gene promoter activity is modulated by transcription factor ZBP-89

scientific article (publication date: 7 May 1999)

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy

scientific article

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

scientific article published in May 2003

Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations

scientific article published on 3 November 2005

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

scientific article published on 01 January 2019

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

scientific article

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

article

Identification of ZNF366 and PTPRD as novel determinants of plasma homocysteine in a family-based genome-wide association study

scientific article published on 12 June 2009

Identification of a novel proinsulin-associated SNP and demonstration that proinsulin is unlikely to be a causal factor in subclinical vascular remodelling using Mendelian randomisation

scientific article published on 28 September 2017

Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations

scientific article

Identification of novel, functional genetic variants in the human matrix metalloproteinase-2 gene: role of Sp1 in allele-specific transcriptional regulation

scientific article

Identification of the BCAR1-CFDP1-TMEM170A locus as a determinant of carotid intima-media thickness and coronary artery disease risk

scientific article

Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.

scientific article published on 12 September 2017

Impact of lipoprotein(a) levels and apolipoprotein(a) isoform size on risk of coronary heart disease

scientific article published on 5 February 2014

Impact of molecular genetics on clinical cardiology.

scientific article

Impaired left ventricular energy metabolism in hypertrophic cardiomyopathy is not due to fibrosis.

scientific article published in March 2009

Improvements in ECG accuracy for diagnosis of left ventricular hypertrophy in obesity

scientific article published on 02 August 2016

In vivo alterations in cardiac metabolism and function in the spontaneously hypertensive rat heart

scientific article published on 16 May 2012

In vivo cardiac 1H-MRS in the mouse

scientific article

In vivo mouse cardiac hyperpolarized magnetic resonance spectroscopy

scientific article published on 18 February 2013

Inactivating mutations in NPC1L1 and protection from coronary heart disease

scientific article

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy

scientific article

Inherited Cardiomyopathies

Inherited aortopathy assessment in bicuspid aortic valve disease relative.

scientific article published on 27 January 2016

Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies

scientific article published on 14 March 2012

Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein

scientific article

Jesting Pilate, genetic case-control association studies, and Heart

scientific article published in August 2004

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci.

scientific article

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Large-scale association analysis identifies new risk loci for coronary artery disease

scientific article published on 02 December 2012

Left Ventricular Non-Compaction

article

Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene

article

Living without creatine: unchanged exercise capacity and response to chronic myocardial infarction in creatine-deficient mice

scientific article

Localisation of AMPK γ subunits in cardiac and skeletal muscles

scientific article published on 14 September 2013

Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod

scientific article

Loss-of-function mutations in APOC3, triglycerides, and coronary disease

scientific article published on 18 June 2014

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations

scientific article published on 21 February 2020

Measured haplotype analysis of the aldosterone synthase gene and heart size.

scientific article

Mechanisms of creatine depletion in chronically failing rat heart

scientific article published on 20 January 2005

Mendelian randomization of blood lipids for coronary heart disease

scientific article

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of gene-level tests for rare variant association

scientific article published on 15 December 2013

Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy.

scientific article published on 4 October 2010

Mice over-expressing the myocardial creatine transporter develop progressive heart failure and show decreased glycolytic capacity

scientific article

Moderate elevation of intracellular creatine by targeting the creatine transporter protects mice from acute myocardial infarction

scientific article

Modulation of genetic associations with serum urate levels by body-mass-index in humans

scientific article

Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

article

Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease

scientific article (publication date: 17 September 2013)

Multiple QTL influence the serum Lp(a) concentration: a genome-wide linkage screen in the PROCARDIS study

scientific article published on 29 November 2006

Multiple disease genes cause hypertrophic cardiomyopathy

scientific article published on December 1994

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis

article

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

scientific article published in June 2001

Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function

scientific article

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

scientific article

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

scientific article

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

scientific article

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

scientific article (publication date: 20 April 1995)

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

scientific article published in February 2002

Myocardial Tissue Characterization Using Magnetic Resonance Noncontrast T1 Mapping in Hypertrophic and Dilated Cardiomyopathy

scientific article published on 15 October 2012

Myocardial dysfunction in hypertrophic cardiomyopathy

article

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis ⬇️

scientific article published on 12 October 2016

No Evidence of Myocardial Oxygen Deprivation in Nonischemic Heart Failure.

scientific article

No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects

scientific article

Non-contrast T1 mapping characterizes the myocardium beyond that achieved by late gadolinium enhancement in both hypertrophic and dilated cardiomyopathy

Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy

scientific article

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study

scientific article

Novel estrogen receptor alpha promoter polymorphism increases ventricular hypertrophic response to hypertension

article

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

scientific article published on 18 June 2018

Novel genetic variants linked to coronary artery disease by genome-wide association are not associated with carotid artery intima-media thickness or intermediate risk phenotypes.

scientific article published on 3 July 2008

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

Nprl3 is required for normal development of the cardiovascular system

scientific journal article

Patients with Dilated Cardiomyopathy (DCM) have appropriate myocardial oxygenation response to vasodilator stress

Patients with hypertrophic cardiomyopathy (HCM) and HCM gene carriers have attenuated myocardial oxygenation response to vasodilator stress - a potential mechanism for sudden cardiac death

article

Personalized medicine: hope or hype?

scientific article

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

scientific article published on 5 October 2017

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

scientific article (publication date: 11 August 2012)

Polymorphism upstream of estrogen receptor alpha reverses negative regulation of transcription

scientific article published on 21 January 2009

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

scientific article published on May 2013

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

scientific article

Predictors of atrial emptying function in patients with hypertrophic cardiomyopathy: insights from cardiovascular magnetic resonance

Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy

scientific article

Prognostic value of plasma interleukin-6 concentrations and the -174 G > C and -572 G > C promoter polymorphisms of the interleukin-6 gene in patients with acute myocardial infarction treated with thrombolysis

scientific article

Progress in familial hypertrophic cardiomyopathy: molecular genetic analyses in the original family studied by Teare

scientific article

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy

scientific article

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Quantitative Trait Genetic Linkage Analysis of Body Mass Index in Familial Coronary Artery Disease

scientific article published on 28 January 2008

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF

scientific article

Rare variants in NR2F2 cause congenital heart defects in humans

scientific article published on April 2014

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

scientific article published on 17 August 2016

Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice

scientific article published on 9 May 2005

Relationship between CAD risk genotype in the chromosome 9p21 locus and gene expression. Identification of eight new ANRIL splice variants

scientific article

Reply

Response to Letter Regarding Article, “The Effect of Selective Heart Rate Slowing in Heart Failure With Preserved Ejection Fraction”

scientific article published on 01 April 2016

Response to letter regarding article, "myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy".

scientific article published in March 2013

Reviews of translational medicine and genomics in cardiovascular disease: new disease taxonomy and therapeutic implications cardiomyopathies: therapeutics based on molecular phenotype

scientific article published on 9 March 2007

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes

scientific article published on 20 July 2020

Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study

scientific article published on 31 July 2013

Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

scientific article

Sex-specific characteristics of cardiac function, geometry, and mass in young adult elite athletes

scientific article published in August 2006

Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants

scientific article

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

scientific article published on November 1992

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies

scientific article

Subunit composition of AMPK trimers present in the cytokinetic apparatus: Implications for drug target identification

scientific article published on March 2012

Sudden Death in Hypertrophic Cardiomyopathy

article by Hugh Christian Watkins published 10 February 2000 in The New England Journal of Medicine

Sudden death due to troponin T mutations

scientific article

Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle

scientific article

Supranormal myocardial creatine and phosphocreatine concentrations lead to cardiac hypertrophy and heart failure: insights from creatine transporter-overexpressing transgenic mice

scientific article published on November 2005

Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p.

scientific article

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease ⬇️

scientific article published on February 2017

Tackling the achilles' heel of genetic testing.

scientific article

The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: a possible explanation for heterogeneity in genetic association studies of AGT and hypertension

scientific article published on 12 November 2007

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Prognostic Impact of Septal Myectomy in Obstructive Hypertrophic Cardiomyopathy**Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the Am

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The diagnosis of familial hypertrophic cardiomyopathy in children

scientific article published on 01 September 1998

The effect of mutations in alpha-tropomyosin (E40K and E54K) that cause familial dilated cardiomyopathy on the regulatory mechanism of cardiac muscle thin filaments.

scientific article published on 13 March 2007

The effects of remote ischaemic preconditioning on coronary artery function in patients with stable coronary artery disease

scientific article published in February 2018

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

scientific article published on 12 September 2016

The genetics of hypertrophic cardiomyopathy: Teare redux

scientific article published on 24 July 2008

The molecular genetics of hypertrophic cardiomyopathy

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The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy

scientific article

The phenotype/genotype relation and the current status of genetic screening in hypertrophic cardiomyopathy, Marfan syndrome, and the long QT syndrome

scientific article published on August 1997

The role of vascular myoglobin in nitrite-mediated blood vessel relaxation ⬇️

scientific article

Training in academic cardiology: prospects for a better future

scientific article published on March 2002

Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies

scientific article

Truncated estrogen receptor alpha 46-kDa isoform in human endothelial cells: relationship to acute activation of nitric oxide synthase

scientific article published on January 2003

Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility

scientific article published on March 2002

Using CMR to improve the diagnostic accuracy of the ECG for the detection of left ventricular hypertrophy; production of a simple adjustment for body mass index.

scientific article

Waiting for the working draft from the human genome project. A huge achievement, but not of immediate medical use.

scientific article published on May 2000

iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death

scientific article

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