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List of works by Jonathan G Seidman

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

scientific article published on 10 February 2014

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

scientific article published on 01 May 1995

A Polymorphic Modifier Gene Alters the Hypertrophic Response in a Murine Model of Familial Hypertrophic Cardiomyopathy ⬇️

scientific article published on November 1, 2001

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 dinucleotide repeat polymorphism in the MYBPH gene

article

A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34

scientific article (publication date: June 1994)

A functional genomic approach to actionable gene fusions for precision oncology

scientific article published on 09 February 2022

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13

scientific article

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 human MSX1 homeodomain missense mutation causes selective tooth agenesis

scientific article

A locus for inherited focal segmental glomerulosclerosis maps to chromosome 19q13 ⬇️

scientific article published on February 1, 1998

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

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 mouse model of congenital heart disease: cardiac arrhythmias and atrial septal defect caused by haploinsufficiency of the cardiac transcription factor Csx/Nkx2.5.

scientific article published on 01 January 2002

A mouse model of familial hypertrophic cardiomyopathy

scientific journal article

A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease

scientific journal article

A mutant of escherichia coli defective in removing 3′ terminal nucleotides from some transfer RNA precursor molecules ⬇️

scientific article published on 01 August 1975

A mutational hot-spot within an intron of the mouse beta 2-microglobulin gene

scientific article published on January 1986

A new beta-2 microglobulin allele in mice defined by DNA sequencing

scientific article published on 01 January 1985

A nonsense mutation in MSX1 causes Witkop syndrome

scientific article

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

scientific article published on February 2016

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

scientific article published on 01 August 2018

AAV9 Delivery of shRNA to the Mouse Heart.

scientific article published on July 2016

AKR murine thymic leukemias are from a distinct thymic cell lineage and do not express the beta chain of the T-cell antigen receptor

scientific article published on October 1986

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

Abnormal recombination products result from aberrant DNA rearrangement of the human T-cell antigen receptor beta-chain gene

scientific article published on July 1986

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

Acute leukemia expressing the gamma gene product of the putative second T cell receptor.

scientific article

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

scientific article

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

scientific article

Allospecific and virus-specific cytolytic T lymphocytes are restricted to the N or C1 domain of H-2 antigens expressed on L cells after DNA-mediated gene transfer.

scientific article published on May 1983

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

scientific article

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

scientific article

Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy

scientific journal article

Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

scientific journal article

Altered hepatic transport of immunoglobulin A in mice lacking the J chain

scientific article

An Ia-positive mouse T-cell clone is functional in presenting antigen to other T cells.

scientific article published in January 1985

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

scientific journal article

An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy

scientific article published on December 2000

An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes

scientific article published on 01 May 1999

An element regulating adrenal-specific steroid 21-hydroxylase expression is located within the slp gene ⬇️

scientific article published on October 25, 1992

An enhancer element and a functional cyclic AMP-dependent protein kinase are required for expression of adrenocortical 21-hydroxylase.

scientific article

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

article

Antibody diversity

scientific article published on 01 October 1978

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

Atrial natriuretic peptide transcription, secretion, and glomerular receptor activity during mineralocorticoid escape in the rat.

scientific article

Atrial natriuretic peptide transcription, storage, and release in rats with myocardial infarction

scientific article published on 01 December 1987

Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation

scientific article

Bartter's syndrome and the atrial natriuretic factor gene

scientific article published on 01 June 1986

Biochemical and functional analyses of a secreted H-2Ld molecule

scientific article published on April 1986

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

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 expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2-5 and dHand

scientific journal 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 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-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

Cardiomyopathy in Irx4-deficient mice is preceded by abnormal ventricular gene expression

scientific journal article

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

scientific article

Causes of clinical diversity in human TBX5 mutations

scientific article (publication date: 2002)

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

Characterization of HPV and host genome interactions in primary head and neck cancers

scientific article

Characterization of a Q subregion gene in the murine major histocompatibility complex

scientific article published on March 1985

Characterization of a regulatory region of the steroid 21-hydroxylase gene

scientific article published in November 1986

Characterization of a third form of the human T cell receptor gamma/delta

scientific article

Characterization of an expressed CD3-associated Ti gamma-chain reveals C gamma domain polymorphism

scientific article

Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia

scientific article

Cis-acting sequences that modulate atrial natriuretic factor gene expression

scientific article

Class I, II and III major histocompatibility complex gene polymorphisms in BB rats

article

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

article

Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments

scientific article

Cloning and sequence analysis of complementary DNA encoding an aberrantly rearranged human T-cell gamma chain

scholarly article

Comparison of two murine models of familial hypertrophic cardiomyopathy

scientific article published on 01 March 2001

Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5 ⬇️

scientific article published on July 3, 1998

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

Construction and expression of a recombinant antibody-targeted plasminogen activator

scientific article

Construction of Normalized RNA‐seq Libraries for Next‐Generation Sequencing Using the Crab Duplex‐Specific Nuclease ⬇️

scientific article published on April 1, 2011

Construction, expression and recognition of an H—2 molecule lacking its carboxyl terminus

scientific article published in Nature

Control of expression of histocompatibility antigens (H-2) and beta 2-microglobulin in F9 teratocarcinoma stem cells

scientific article

Control of in vivo left ventricular [correction] contraction/relaxation kinetics by myosin binding protein C: protein kinase A phosphorylation dependent and independent regulation

scientific article published on 05 November 2007

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 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

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

scientific article published on July 2016

Detection of a frequent restriction fragment length polymorphism in the human T cell antigen receptor beta chain locus. A potential diagnostic tool

scientific article

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations

scientific article published on 01 August 2001

Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy ⬇️

scientific article published on April 15, 1998

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

scientific article

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

scientific journal article

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

scientific article

Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

scientific journal article

Discordant clinical features of identical hypertrophic cardiomyopathy twins

scientific article published on 3 March 2021

Dissection of serological and cytolytic T lymphocyte epitopes on murine major histocompatibility antigens by a recombinant H-2 gene separating the first two external domains

scientific article

Diversity of T-cell antigen receptor V beta gene utilization in advanced human atheroma

scientific article published on 01 July 1994

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

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

scientific article

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

scientific article published on 13 June 2017

Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome

scientific article published on 01 May 1999

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

Electrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy mice

scientific journal article

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

scientific article published on January 8, 2013

Embryonic stem cells lacking a functional inhibitory G-protein subunit (alpha i2) produced by gene targeting of both alleles

scientific article

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

Eucaryotic chromosome transfer: production of a murine-specific cosmid library from a neor-linked fragment of murine chromosome 17.

scientific article

Eukaryotic chromosome transfer: linkage of the murine major histocompatibility complex to an inserted dominant selectable marker

scientific article published on August 1984

Evolution of the biosynthesis of 3′-terminal C-C-A residues in T-even bacteriophage transfer RNAs ⬇️

scientific article published on March 15, 1978

Exon shuffling: mapping polymorphic determinants on hybrid mouse transplantation antigens

scientific article published in Nature

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

Expression of complement proteins C2 and factor B in transfected L cells

scientific article

Expression of murine 21-hydroxylase in mouse adrenal glands and in transfected Y1 adrenocortical tumor cells

scientific article published on December 1985

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

Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation

scientific article published on 01 June 1999

Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease

scientific article

Familial hypertrophic cardiomyopathy mice display gender differences in electrophysiological abnormalities

scientific article published in March 1998

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

Finding Pathogenic Nucleic Acid Sequences in Next Generation Sequencing Data

scientific article

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

scientific article published on 04 September 2020

Functional analysis of myosin missense mutations in familial hypertrophic cardiomyopathy.

scientific article

Functional expression of a cloned I-A beta k gene in B-lymphoma cells

scientific article published on 01 February 1984

Functional gamma chain-associated T cell receptors on cerebrospinal fluid-derived natural killer-like T cell clones

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

Genes for two homologous G-protein alpha subunits map to different human chromosomes

scientific article published on 01 November 1987

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency

scientific article published on 01 January 1997

Genetic mapping of a human class II antigen beta-chain cDNA clone to the SB region of the HLA complex ⬇️

scientific article published on October 1, 1983

Genetic perturbations that reveal tertiary conformation of tRNA precursor molecules ⬇️

scientific article published on September 11, 1975

Genetic testing for dilated cardiomyopathy in clinical practice

scientific article published on 15 February 2012

Genetics of congenital heart disease: the glass half empty

scientific article

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

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

scientific article published on 08 December 2008

Glycogen storage diseases presenting as hypertrophic cardiomyopathy

scientific article published in January 2005

H-2 hemizygous mutants from a heterozygous cell line: role of mitotic recombination

scientific article

H-2-like genes in the Tla region of mouse chromosome 17

scientific article published on 01 January 1982

H-2Ld antigen encoded by a recombinant retrovirus genome is expressed on the surface of infected cells

scientific article published on June 1985

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 ofMSX1: a Mechanism for Selective Tooth Agenesis ⬇️

scientific article published on October 1, 1998

Hereditary inclusion body myopathy maps to chromosome 9p1-q1

scientific article

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

scientific article

High capacity gel preparative electrophoresis for purification of fragments of genomic DNA

scientific article published on 01 July 1978

High-throughput multiplex sequencing of miRNA

scientific article

Human T-cell gamma chain genes: organization, diversity, and rearrangement

scientific article published on 01 January 1986

Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay

scientific article

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

Identification of cDNA encoding an additional alpha subunit of a human GTP-binding protein: expression of three alpha i subtypes in human tissues and cell lines

scientific article

Identification of functional regions on the I-Ab molecule by site-directed mutagenesis

scientific article published on February 1986

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

scientific article

Identification of tRNA Precursor Molecules made by Phage T4 ⬇️

scientific article published on 01 November 1973

Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history

scientific article published in March 2011

Immunoglobulin and T-cell receptor gene rearrangement and expression in human lymphoid leukemia cells at different stages of maturation

scientific article

Immunoglobulin gamma 1 heavy chain gene: structural gene sequences cloned in a bacterial plasmid

scientific article published in April 1980

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

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

scientific article

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

scientific article

Isolation and restriction map of the V-J interval of the human T cell receptor gamma chain locus

scientific article published on 01 April 1989

Isotypic exclusion of gamma delta T cell receptors in transgenic mice bearing a rearranged beta-chain gene

scientific article published in Science

Lack of association of secretory component with IgA in J chain-deficient mice

scientific article published on 01 July 1996

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

scientific article

Linkage of beta 2-microglobulin and ly-m11 by molecular cloning and DNA-mediated gene transfer

scientific article

Linkage of loci associated with two pigment mutations on mouse chromosome 13 ⬇️

scientific article published on 01 August 1991

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

scientific article published on 27 September 2016

Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease

scientific article

Major histocompatibility complex restriction fragment length polymorphisms define three diabetogenic haplotypes in BB and BBN rats

scientific article

Measuring the human T cell receptor gamma-chain locus

scientific article published on 01 September 1987

Missense mutation in the pore region of HERG causes familial long QT syndrome

scientific article published in May 1996

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

scientific article

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

scientific article (publication date: 2 December 1999)

Modeling Human TBX5 Haploinsufficiency Predicts Regulatory Networks for Congenital Heart Disease

scientific article published on 08 December 2020

Molecular analysis of 21-hydroxylase gene expression in mouse adrenal cells

scientific article published on 01 January 1986

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

scientific article published in March 2024

Molecular cloning and characterization of cDNA encoding the GTP-binding protein alpha i and identification of a related protein, alpha h.

scientific article published in October 1986

Molecular epidemiology of hypertrophic cardiomyopathy

scientific article published on 01 January 2002

Molecular map of the murine S region ⬇️

scientific article published on November 1, 1983

Molecular studies of the atrial natriuretic factor gene

scientific article published on 01 May 1985

Mouse beta 2-microglobulin cDNA clones: a screening procedure for cDNA clones corresponding to rare mRNAs

scientific article

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

scientific article

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction ⬇️

scientific article published on November 1, 1998

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

scientific article

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

scientific article (publication date: 7 December 2000)

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

scientific article

Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways

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 in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

scientific article published on 31 December 1993

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

scientific 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

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

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

Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the alpha cardiac myosin heavy chain gene

scientific article

Nonlinkage of the T cell receptor alpha, beta, and gamma genes to systemic lupus erythematosus in multiplex families

scientific article published on 01 November 1988

Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7

scientific article published on 9 May 2006

Nucleic acid and protein sequences of phosphocholine-binding light chains

scientific article

Nucleotide alterations in the bacteriophage T4 glutamine transfer RNA that affect ochre suppressor activity

scientific article published in December 1974

Nucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression

scientific article published on December 1986

Nucleotide sequence of mutant I-Aβbm12 gene is evidence for genetic exchange between mouse immune response genes ⬇️

scientific article published on April 5, 1984

Nucleotide-sequence-specific de novo methylation in a somatic murine cell line

scientific article

ORE identifies extreme expression effects enriched for rare variants

scientific article published on 01 October 2019

Oligoclonal T lymphocytes in the cerebrospinal fluid of patients with multiple sclerosis

scientific article

Ouabain induces secretion of proatrial natriuretic factor by rat atrial cardiocytes

scientific article published on 01 September 1988

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

Pillars Article: Identification of a Putative Second T-cell Receptor. Nature. 1986. 322: 145-149

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

scientific article

Polymorphism and complexity of the human DC and murine I-A alpha chain genes

scientific article

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

scientific article published on 01 December 2019

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

scientific article

Progression to diabetes in nonobese diabetic (NOD) mice with transgenic T cell receptors

scientific article published on 01 February 1993

Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy

scientific article

Proximal regulatory domains of rat atrial natriuretic factor gene ⬇️

scientific article published on 01 September 1991

QT dispersion in alpha-myosin heavy-chain familial hypertrophic cardiomyopathy mice

scientific journal article

Quantification of microRNA expression with next-generation sequencing

scientific article published on July 2013

Recognition of HLA-A2 by cytotoxic T lymphocytes after DNA transfer into human and murine cells

scientific article published on 01 November 1984

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

scientific article published in August 2004

Regional localization of the human G protein αi2 (GNAI2) gene: Assignment to 3p21 and a related sequence (GNAI2L) to 12p12–p13 ⬇️

scientific article published on January 1, 1992

Regulation of murine fetal-placental calcium metabolism by the calcium-sensing receptor ⬇️

scientific article published on June 15, 1998

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 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

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

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

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

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

scientific article (publication date: 14 April 2000)

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

Specific Class II Histocompatibility Gene Polymorphism in BB Rats

article

Spectrum of somatic mitochondrial mutations in five cancers

scientific article

Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations

scientific article published on November 1992

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

scientific article published on 4 September 2012

Systemic lupus erythematosus is not genetically linked to the beta chain of the T cell receptor

scientific article published on 01 August 1986

T cell receptor (TCR) usage determines disease susceptibility in experimental autoimmune encephalomyelitis: studies with TCR V beta 8.2 transgenic mice

scientific article

T-cell receptor gene rearrangement and expression in human natural killer cells: natural killer activity is not dependent on the rearrangement and expression of T-cell receptor alpha, beta, or gamma genes

scientific article published on January 1988

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 Ablation of the Murine α-Tropomyosin Gene ⬇️

scientific article published on 01 December 1997

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

The G protein alpha o subunit alters morphology, growth kinetics, and phospholipid metabolism of somatic cells.

scientific article published on December 1989

The Genetic Basis for Cardiomyopathy

scientific article (publication date: February 2001)

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

scientific article

The coming of age of cardiovascular science

scientific article published on 01 January 2002

The gene for the alpha i1 subunit of human guanine nucleotide binding protein maps near the cystic fibrosis locus

scientific article

The genetic basis for cardiac remodeling

scientific article

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

scientific article (publication date: 23 February 2001)

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

scientific article

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 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.

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Truncations of titin causing dilated cardiomyopathy.

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Two steroid 21-hydroxylase genes are located in the murine S region

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

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

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cis modification of the steroid 21-hydroxylase gene prevents its expression in the Y1 mouse adrenocortical tumor cell line

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poly(UG)-tailed RNAs in genome protection and epigenetic inheritance

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β-Arrestin1 Knockout Mice Appear Normal but Demonstrate Altered Cardiac Responses to β-Adrenergic Stimulation ⬇️

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

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