Search filters

List of works by Christine E. Seidman

126 Advanced Assessment of Cardiac Morphology and Prediction of Gene Carriage by CMR in Hypertrophic Cardiomyopathy - The HCMNET/UCL Collaboration

article

2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the Ameri

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article published on 08 November 2011

2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines

scientific article published on 8 November 2011

5'RNA-Seq identifies Fhl1 as a genetic modifier in cardiomyopathy.

scientific article published on 10 February 2014

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

scientific article published in October 2017

A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

scientific article published on 18 December 2017

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy

scientific article published on 20 April 2016

A classic twin study of external ear malformations, including microtia

scientific article published on September 2009

A common genetic variant within SCN10A modulates cardiac SCN5A expression

scientific article published on 18 March 2014

A contemporary approach to hypertrophic cardiomyopathy.

scientific article published on June 2006

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

article

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

scientific article

A molecular basis for familial hypertrophic cardiomyopathy: an alpha/beta cardiac myosin heavy chain hybrid gene

scientific article

A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development

scientific journal article

A novel custom resequencing array for dilated cardiomyopathy

scientific article

A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia

scientific article (publication date: February 2004)

A one-page summary report of genome sequencing for the healthy adult

scientific article

A public resource facilitating clinical use of genomes

scientific article (publication date: 24 July 2012)

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice.

scientific article published on February 2016

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

scientific article

A tribute to Ketty Schwartz.

scientific article

A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance

scientific article published on 01 August 2018

AMP-activated protein kinase in the heart: role during health and disease

scientific article published on March 2007

Aberrant activation of AMP-activated protein kinase remodels metabolic network in favor of cardiac glycogen storage

scientific article

Abnormal Left-Hemispheric Sulcal Patterns Correlate with Neurodevelopmental Outcomes in Subjects with Single Ventricular Congenital Heart Disease

scientific article published on 01 March 2020

Accelerated cardiomyopathy in mice with overexpression of cardiac G(s)alpha and a missense mutation in the alpha-myosin heavy chain

scientific article published on 01 February 2002

Activin type II receptor signaling in cardiac aging and heart failure

scientific article published on 01 March 2019

Advanced assessment of cardiac morphology and prediction of gene carriage by CMR in hypertrophic cardiomyopathy - the HCMNet/UCL collaboration.

scientific article published on 16 January 2014

Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

scientific article published on 12 April 2019

Age-related autocrine diabetogenic effects of transgenic resistin in spontaneously hypertensive rats: gene expression profile analysis.

scientific article

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

scientific article published on November 2016

Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy

scientific article

Alpha blockade potentiates CPVT therapy in calsequestrin-mutant mice

scientific article

Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition

scientific article

American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Europ

article

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

scientific article

An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations

scientific article

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line

scientific journal article

An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery

scientific article published on 13 August 2018

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

scientific article

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

scientific article published on 25 June 2002

Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease

scientific article published on 21 October 2020

Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy

scientific article published on 04 December 2019

Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy

scientific article published on 07 December 2020

BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy

scientific article published on 30 June 2020

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

scientific article

Biobank participants' preferences for disclosure of genetic research results: perspectives from the OurGenes, OurHealth, OurCommunity project

scientific article

Brazilian urban population genetic structure reveals a high degree of admixture.

scientific article

Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts

scientific article

CD36 overexpression predisposes to arrhythmias but reduces infarct size in spontaneously hypertensive rats: gene expression profile analysis

scientific journal article

CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

scientific article published in April 2015

CRISPR/Cas9-Mediated Fluorescent Tagging of Endogenous Proteins in Human Pluripotent Stem Cells.

scientific article published on 24 January 2018

Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods

scientific article published on 03 December 2009

Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia

scientific article (publication date: July 2007)

Cardiac Myosin Binding Protein-C Autoantibodies are Potential Early Indicators of Cardiac Dysfunction and Patient Outcome in Acute Coronary Syndrome

scientific article

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β.

scientific article

Cardiac myosin binding protein C phosphorylation is cardioprotective

scientific journal article

Cardiac myosin binding protein C regulates postnatal myocyte cytokinesis.

scientific article published on 7 July 2015

Cardiac myosin binding protein-C is essential for thick-filament stability and flexural rigidity

scientific article published on April 2009

Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function.

scientific article

Cardiac myosin-binding protein-C phosphorylation and cardiac function

scientific journal article

Cardiac-enriched BAF chromatin-remodeling complex subunit Baf60c regulates gene expression programs essential for heart development and function. ⬇️

scientific article

Cardiomyocyte-enriched protein CIP protects against pathophysiological stresses and regulates cardiac homeostasis

scientific article

Cardiovascular genomics

scientific article published on 01 March 2006

Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter

scientific article

Cells and gene expression programs in the adult human heart

scientific article published on 05 April 2020

Cells of the adult human heart

scientific article published on 24 September 2020

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

scientific article

Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy

scientific article

Closing the Genotype-Phenotype Loop for Precision Medicine

scientific article published in October 2017

Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses

scientific article

Complement genes contribute sex-biased vulnerability in diverse disorders

scientific article published on 11 May 2020

Congenital Heart Defects Due to TAF1 Missense Variants

scientific article published on 12 May 2020

Connexin 40, a target of transcription factor Tbx5, patterns wrist, digits, and sternum

scientific article

Consequences of pressure overload on sarcomere protein mutation-induced hypertrophic cardiomyopathy.

scientific article published on 18 August 2003

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy

scientific article

Contemporary evaluation and management of hypertrophic cardiomyopathy

scientific article published on 01 September 2002

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

scientific article published on 9 October 2017

Conundrum of sudden cardiac death: making sense of missense.

scientific article published in August 2013

Correction: Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

scientific article published on 14 February 2020

De Novo Damaging Variants, Clinical Phenotypes, and Post-Operative Outcomes in Congenital Heart Disease

scientific article published on 30 June 2020

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

scientific article published on 17 October 2019

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

scientific article published on 13 July 2009

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

scientific article published on December 2015

De novo mutations in histone-modifying genes in congenital heart disease.

scientific article

Deep sequence analysis of gene expression identifies osteopontin as a downstream effector of integrin-linked kinase (ILK) in cardiac-specific ILK knockout mice

scientific article published on 06 December 2013

Deletion of thioredoxin-interacting protein in mice impairs mitochondrial function but protects the myocardium from ischemia-reperfusion injury

scientific article published on 27 December 2011

Detection of Cell Proliferation Markers by Immunofluorescence Staining and Microscopy Imaging in Paraffin-Embedded Tissue Sections.

scientific article published on July 2016

Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium

scientific journal article

Differentiation and Contractile Analysis of GFP-Sarcomere Reporter hiPSC-Cardiomyocytes

scientific article published on 24 January 2018

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

scientific article

Diltiazem treatment for pre-clinical hypertrophic cardiomyopathy sarcomere mutation carriers: a pilot randomized trial to modify disease expression

scientific article

Discordant clinical features of identical hypertrophic cardiomyopathy twins

scientific article published on 3 March 2021

Dissecting spatio-temporal protein networks driving human heart development and related disorders

scientific article

Dissection of chromosome 18 blood pressure and salt-sensitivity quantitative trait loci in the spontaneously hypertensive rat

scientific article

Dynamic Cellular Integration Drives Functional Assembly of the Heart's Pacemaker Complex.

scientific article published in May 2018

EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

scientific article published on 29 April 2020

Early remodeling of repolarizing K+ currents in the αMHC403/+ mouse model of familial hypertrophic cardiomyopathy

scientific article published on 12 January 2017

Echocardiography and cardiac MRI in mutation-negative hypertrophic cardiomyopathy in an older patient: a case defining the need for ICD.

scientific article published on 10 May 2014

Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium.

scientific article

Effects of losartan on left ventricular hypertrophy and fibrosis in patients with nonobstructive hypertrophic cardiomyopathy.

scientific article published on 24 October 2013

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

scientific article published on 13 June 2017

Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome

scientific article published in September 2003

Elevated rates of force development and MgATP binding in F764L and S532P myosin mutations causing dilated cardiomyopathy ⬇️

scientific article published on January 8, 2013

Engineering a living cardiac pump on a chip using high-precision fabrication

scientific article published on 22 April 2022

Epigenetic repression of cardiac progenitor gene expression by Ezh2 is required for postnatal cardiac homeostasis.

scientific article published on 22 January 2012

Exercise training improves cardiac function and attenuates arrhythmia in CPVT mice ⬇️

scientific article published on 04 October 2012

Exome-wide association study reveals novel susceptibility genes to sporadic dilated cardiomyopathy

scientific article

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

scientific article published on 21 April 2020

Eya4 regulation of Na+/K+-ATPase is required for sensory system development in zebrafish

scientific article

Eya4-deficient mice are a model for heritable otitis media

scientific article

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

scientific article

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

scientific article

Filamin C Cardiomyopathy Variants Cause Protein and Lysosome Accumulation

scientific article published on 18 August 2021

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

scientific article

Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions

scientific article published on 8 January 2018

Founder Mutation in N-terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

scientific article published on 04 September 2020

Fulminant Myocarditis with Combination Immune Checkpoint Blockade

scientific article

Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.

scientific article published on 09 May 2013

Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

scientific article

Fundamental Cardiovascular Research: Returns on Societal Investment: A Scientific Statement From the American Heart Association

scientific article

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

scientific article published on 15 October 2020

Gene mutations in apical hypertrophic cardiomyopathy

scientific article

Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

scientific article published in April 2018

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients

scientific article published on 20 August 2020

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy

scientific article published on 29 October 2018

Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy

scientific article published on 16 April 2019

Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

scientific article

Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

scientific article published on 04 October 2007

Genetic causes of human heart failure

scientific article

Genetic causes of inherited cardiac hypertrophy: Robert L. Frye Lecture

scientific article published in December 2002

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

scientific article

Genetic testing for dilated cardiomyopathy in clinical practice

scientific article published on 15 February 2012

Genetics of hypertrophic cardiomyopathy

scientific article

Genetics of pediatric cardiomyopathies

scientific article published in June 2018

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

scientific article published on 02 July 2018

Genome-wide assessment for genetic variants associated with ventricular dysfunction after primary coronary artery bypass graft surgery

scientific article

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

scientific article published on 11 September 2011

Genome-wide identification of mouse congenital heart disease loci

scientific article

Genomewide linkage in a large Caucasian family maps a new locus for intracranial aneurysms to chromosome 13q

scientific article published on 08 December 2008

Genomic analyses implicate noncoding de novo variants in congenital heart disease

scientific article published on 29 June 2020

Genomic frontiers in congenital heart disease

scientific article published on 16 July 2021

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe)

scientific article published on 23 August 2018

Glycogen storage diseases presenting as hypertrophic cardiomyopathy

scientific article published in January 2005

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

scientific article

HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss

scientific article

Haploinsufficiency of MYBPC3 exacerbates the development of hypertrophic cardiomyopathy in heterozygous mice.

scientific article

Heritable Cardiac Conduction and Myocardial Disease: From the Clinic to the Basic Science Laboratory and Back to the Clinic ⬇️

scientific article published on June 17, 2011

Heterogeneous myocyte enhancer factor-2 (Mef2) activation in myocytes predicts focal scarring in hypertrophic cardiomyopathy

scientific article

Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.

scientific article

Hierarchical and stage-specific regulation of murine cardiomyocyte maturation by serum response factor

scientific article published in Nature Communications

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility

scientific article published on 24 June 2019

How should hypertrophic cardiomyopathy be classified?: What's in a name? Dilemmas in nomenclature characterizing hypertrophic cardiomyopathy and left ventricular hypertrophy

scientific article published in February 2009

Human Induced Pluripotent Stem Cell Production and Expansion from Blood using a Non-Integrating Viral Reprogramming Vector

scientific article published on 01 April 2018

Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers

scientific article published on 05 April 2020

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

scientific article published on 01 January 2019

Hypertrophic cardiomyopathy: translating cellular cross talk into therapeutics

scientific article

IL-11 is a crucial determinant of cardiovascular fibrosis.

scientific article

IL-12 is required for differentiation of pathogenic CD8+ T cell effectors that cause myocarditis.

scientific article

Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing

scientific article

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history

scientific article published in March 2011

In vivo and In vitro methods to identify DNA sequence variants that alter RNA Splicing

scientific article published on 26 April 2018

Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy

scientific article published on 07 November 2005

Increased burden of cardiovascular disease in carriers of APOL1 genetic variants

scientific article published on 30 December 2013

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data

scientific article

Increased glycogen stores due to gamma-AMPK overexpression protects against ischemia and reperfusion damage

scientific article published on 5 January 2008

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

scientific article

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis

scientific article published on 01 June 2017

Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis.

scientific article published on December 2016

Joint analysis of left ventricular expression and circulating plasma levels of Omentin after myocardial ischemia.

scientific article

Lamin A/C haploinsufficiency causes dilated cardiomyopathy and apoptosis-triggered cardiac conduction system disease.

scientific article

Locus for familial migrainous vertigo disease maps to chromosome 5q35.

scientific article published on September 2009

Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice.

scientific article published on 23 August 2013

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

scientific article published on 27 September 2016

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2

scientific article

Macrophages Facilitate Electrical Conduction in the Heart.

scientific article published in April 2017

Marked Up-Regulation of ACE2 in Hearts of Patients With Obstructive Hypertrophic Cardiomyopathy: Implications for SARS-CoV-2-Mediated COVID-19

scientific article published on 28 April 2020

Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic

scientific article published on November 2014

Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

scientific article

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease

scientific article published on 08 December 2020

Molecular Genetics of Lidocaine-Containing Cardioplegia in the Human Heart During Cardiac Surgery

scientific article published on 17 July 2018

Molecular and Spatial Signatures of Mouse Embryonic Endothelial Cells at Single-Cell Resolution

scientific article published in March 2024

Molecular profiling of dilated cardiomyopathy that progresses to heart failure

scientific article published on May 2016

Multilayer Myocardial Mechanics in Genotype-Positive Left Ventricular Hypertrophy-Negative Patients With Hypertrophic Cardiomyopathy

scientific article published on 21 August 2018

Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss

scientific article

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder

scientific journal article

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy ⬇️

scientific article published on January 14, 2002

Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy

scientific article

Myofilament mechanical performance is enhanced by R403Q myosin in mouse myocardium independent of sex.

scientific article published on 15 February 2008

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy

scientific article published on 27 January 2020

N488I mutation of the gamma2-subunit results in bidirectional changes in AMP-activated protein kinase activity

scientific article published on 28 July 2005

NKX2-5 mutations in an inbred consanguineous population: genetic and phenotypic diversity

scientific article

Narrative review: harnessing molecular genetics for the diagnosis and management of hypertrophic cardiomyopathy

scientific article

Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation

scientific article (publication date: 30 September 2014)

Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting

scientific article

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

scientific article published on 9 May 2006

Novel Therapies for Prevention and Early Treatment of Cardiomyopathies

scientific article published on 01 May 2019

Optimizing catecholaminergic polymorphic ventricular tachycardia therapy in calsequestrin-mutant mice

scientific article

Paternal-age-related de novo mutations and risk for five disorders

scientific article published on 10 July 2019

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

scientific article published on 2 May 2015

Phenotypic diversity in hypertrophic cardiomyopathy

scientific article

Pheochromocytoma-induced cardiomyopathy is modulated by the synergistic effects of cell-secreted factors

scientific article published on 10 February 2009

Pitx2 modulates a Tbx5-dependent gene regulatory network to maintain atrial rhythm.

scientific article

Polony multiplex analysis of gene expression (PMAGE) in mouse hypertrophic cardiomyopathy

scientific article

Polycomb Repressive Complex 2 Regulates Normal Development of the Mouse Heart ⬇️

scientific article published on December 8, 2011

Precision Medicine in the Management of Dilated Cardiomyopathy: JACC State-of-the-Art Review

scientific article published on 01 December 2019

Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy

scientific article

Preparation of rAAV9 to Overexpress or Knockdown Genes in Mouse Hearts.

scientific article

Prevention of Ventricular Arrhythmia and Calcium Dysregulation in a Catecholaminergic Polymorphic Ventricular Tachycardia Mouse Model Carrying Calsequestrin-2 Mutation ⬇️

scientific article published on August 30, 2010

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

scientific article

Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

scientific article published on 20 November 2020

Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C.

scientific article published in August 2004

Rescue of cardiomyocyte dysfunction by phospholamban ablation does not prevent ventricular failure in genetic hypertrophy

scientific article

Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.

scientific article

Response by Ho et al to Letter Regarding Article, "Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)"

scientific article published on 01 March 2019

Response to Brodehl et al

scientific article published on 28 September 2018

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

scientific article published on 22 January 2015

Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations

scientific article

Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.

scientific article published on 11 March 2018

Robust identification of mosaic variants in congenital heart disease

scientific article published on 7 February 2018

Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening

scientific article

SarcTrack

scientific article published on 01 April 2019

Sarcomere Protein Gene Mutations and Inherited Heart Disease: A β Cardiac Myosin Heavy Chain Mutation Causing Endocardial Fibroelastosis and Heart Failure

article

Sarcomere gene mutations in hypertrophy and heart failure

scientific article

Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure

scientific article

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

scientific article

Scientists on the Spot: Putting a halt to hypertrophic cardiomyopathy

scientific article published on 01 March 2020

Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm

scientific article published on 19 March 2009

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

scientific article published on 24 March 2008

Sex differences in gene expression in response to ischemia in the human left ventricular myocardium

scientific article published on 01 May 2019

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies.

scientific article published on 6 January 2016

Shared genetic causes of cardiac hypertrophy in children and adults

scientific article

Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

scientific article published on 8 April 2010

Single-Cell Resolution of Temporal Gene Expression during Heart Development

scientific article published on 9 November 2016

Single-gene mutations and increased left ventricular wall thickness in the community: the Framingham Heart Study

scientific article

Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia

scientific article

Spatial transcriptional profile of the chick and mouse endocardial cushions identify novel regulators of endocardial EMT in vitro ⬇️

scientific article published on April 1, 2013

Spatiotemporal Multi-omics Mapping Generates a Molecular Atlas of the Aortic Valve and Reveals Networks Driving Disease

scientific article published on 27 March 2018

Spectrum of somatic mitochondrial mutations in five cancers

scientific article

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

scientific article published on 4 September 2012

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

scientific article published on 08 April 2020

THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage

scientific article published on 15 November 2016

Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells

scientific article published on 26 November 2014

Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis

scientific article published on 22 September 2014

Tbx5 is required for forelimb bud formation and continued outgrowth

scientific journal article

Tbx5-dependent rheostatic control of cardiac gene expression and morphogenesis

scientific journal article

Telomere shortening is a hallmark of genetic cardiomyopathies

article published in the Proceedings of the National Academy of Sciences of the United States of America

The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.

scientific article published in April 2017

The Congenital Heart Disease Genetic Network Study: rationale, design, and early results

scientific article published on February 2013

The Genetic Basis for Cardiomyopathy

scientific article (publication date: February 2001)

The Good SHP2 Association: a porthole into the genetics of congenital heart disease ⬇️

scientific article published on June 1, 2012

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

scientific article

The Long Noncoding RNA Landscape of the Ischemic Human Left Ventricle.

scientific article published on January 2017

The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine

scientific article

The Muscle-Bound Heart.

scientific article published on March 2016

The Role of the L-Type Ca2+ Channel in Altered Metabolic Activity in a Murine Model of Hypertrophic Cardiomyopathy

scientific article published on 01 January 2016

The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system

scientific journal article

The Transcriptional Signature of Growth in Human Fetal Aortic Valve Development

scientific article published on 30 July 2018

The Translational Landscape of the Human Heart

scientific article published on 30 May 2019

The genetic basis for cardiac remodeling

scientific article

The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

scientific article

The role of mutant protein level in autosomal recessive catecholamine dependent polymorphic ventricular tachycardia (CPVT2).

scientific article

The uptake of family screening in hypertrophic cardiomyopathy and an online video intervention to facilitate family communication

scientific article published on 03 September 2019

ThePTPN11gene is not implicated in nonsyndromic hypertrophic cardiomyopathy

article

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

Titin-truncating variants affect heart function in disease cohorts and the general population.

scientific article

Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development ⬇️

scientific article published on February 17, 2011

Transcription factor haploinsufficiency: when half a loaf is not enough

scientific article

Transcriptional Profiling of Cultured, Embryonic Epicardial Cells Identifies Novel Genes and Signaling Pathways Regulated by TGFβR3 In Vitro

scientific article

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

scientific article published on 2 June 2003

Truncations of titin causing dilated cardiomyopathy.

scientific article

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration

scientific article

Using next-generation RNA sequencing to examine ischemic changes induced by cold blood cardioplegia on the human left ventricular myocardium transcriptome

scientific article

Variation in the 4q25 chromosomal locus predicts atrial fibrillation after coronary artery bypass graft surgery

scientific article

ViroFind: A novel target-enrichment deep-sequencing platform reveals a complex JC virus population in the brain of PML patients.

scientific article published on 23 January 2018

Yin Yang 1 Suppresses Dilated Cardiomyopathy and Cardiac Fibrosis Through Regulation of Bmp7 and Ctgf

scientific article published on 09 September 2019

[Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy]

scientific article published on 01 December 2009

β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations

scientific article

Paulina is supported by:

About Paulina

Help