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Lista de obras de Hugh Christian Watkins

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

artículo científico publicado en 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).

artículo científico publicado en 2014

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

A dinucleotide repeat polymorphism in the MYBPH gene

article

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

artículo científico publicado en 1993

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

artículo científico publicado en 1993

A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

artículo científico publicado en 1993

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 1995

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

artículo científico publicado el 1 de junio de 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.

artículo científico publicado en 2005

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

artículo científico publicado en 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.

artículo científico publicado en 2005

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).

artículo científico publicado en 1994

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 1994

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

artículo científico publicado en 2002

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

artículo científico publicado en 2000

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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2015

Animal models of familial hypertrophic cardiomyopathy

artículo científico publicado en 1999

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

artículo científico publicado en 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

artículo científico publicado en 2006

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

artículo científico publicado en 2003

Assigning a causal role to genetic variants in hypertrophic cardiomyopathy

artículo científico publicado en 2013

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

artículo científico publicado en 1994

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2021

Blood pressure loci identified with a gene-centric array

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 1999

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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 1992

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 1997

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 1996

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 1995

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

artículo científico publicado en 2010

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy

artículo científico publicado en 1995

Familial hypertrophic cardiomyopathy: man, mouse and cat

artículo científico publicado en 1998

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

Fumarate is cardioprotective via activation of the Nrf2 antioxidant pathway.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2009

Functional significance of SRJ domain mutations in CITED2

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 1999

Genetic cardiomyopathies causing heart failure

artículo científico

Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Genetic evidence of assortative mating in humans

article

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

artículo científico publicado en 2015

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Genotype: phenotype correlations in hypertrophic cardiomyopathy

artículo científico publicado en 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).

artículo científico

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).

artículo científico publicado en 2011

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2005

Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias

artículo científico publicado en 2012

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

artículo científico publicado en 2019

Human genetic evidence for involvement of CD137 in atherosclerosis

artículo científico publicado en 2014

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

artículo científico publicado en 1999

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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

scientific article published on 01 January 2019

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2002

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

artículo científico publicado en 2000

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

artículo científico publicado en 2012

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Impact of molecular genetics on clinical cardiology.

artículo científico publicado en 1999

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

artículo científico publicado en 2009

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

artículo científico publicado en 2016

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

artículo científico publicado en 2012

In vivo cardiac 1H-MRS in the mouse

artículo científico publicado en 2004

In vivo mouse cardiac hyperpolarized magnetic resonance spectroscopy

artículo científico publicado en 2013

Inactivating mutations in NPC1L1 and protection from coronary heart disease

artículo científico publicado en 2014

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

artículo científico publicado en 1993

Inherited Cardiomyopathies

Inherited aortopathy assessment in bicuspid aortic valve disease relative.

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2000

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2013

Localisation of AMPK γ subunits in cardiac and skeletal muscles

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2020

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

artículo científico publicado en 2003

Mechanisms of creatine depletion in chronically failing rat heart

artículo científico publicado en 2005

Mendelian randomization of blood lipids for coronary heart disease

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

Multiple disease genes cause hypertrophic cardiomyopathy

artículo científico publicado en 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

artículo científico publicado en 2001

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

artículo científico publicado en 2007

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

artículo científico publicado en 1995

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

artículo científico publicado en 2001

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

artículo científico publicado en 1998

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

artículo científico publicado en 1995

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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.

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2012

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?

artículo científico publicado en 2012

Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Polymorphism upstream of estrogen receptor alpha reverses negative regulation of transcription

artículo científico publicado en 2009

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

artículo científico publicado en 2013

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

artículo científico publicado en 1991

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

artículo científico publicado en 1994

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

artículo científico publicado en 2004

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

artículo científico publicado en 1992

Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy

artículo científico publicado en 1999

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

artículo científico publicado en 2008

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Rare variants in NR2F2 cause congenital heart defects in humans

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Reply

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2014

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

artículo científico publicado en 1992

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 1997

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2017

Tackling the achilles' heel of genetic testing.

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado en 2015

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

article

The diagnosis of familial hypertrophic cardiomyopathy in children

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

The genetics of hypertrophic cardiomyopathy: Teare redux

scientific article published on 24 July 2008

The molecular genetics of hypertrophic cardiomyopathy

article

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

artículo científico publicado en 2008

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

artículo científico publicado en 1997

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

artículo científico publicado en 2010

Training in academic cardiology: prospects for a better future

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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