Inherited conduction system abnormalities--one group of diseases, many genes (Q28236888)

Journal of Cardiovascular Electrophysiology

Europe PubMed Central

title

Inherited conduction system abnormalities--one group of diseases, many genes (English)

0 references

author name string

Cordula M Wolf

series ordinal

1

0 references

Charles I Berul

series ordinal

2

0 references

language of work or name

English

0 references

publication date

April 2006

0 references

published in

0 references

volume

17

0 references

issue

4

0 references

page(s)

446-55

0 references

cites work

Cardiac conduction defects associate with mutations in SCN5A

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

A sodium-channel mutation causes isolated cardiac conduction disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

The hyperpolarization-activated channel HCN4 is required for the generation of pacemaker action potentials in the embryonic heart

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Congenital heart disease caused by mutations in the transcription factor NKX2-5

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

A novel genetic pathway for sudden cardiac death via defects in the transition between ventricular and conduction system cell lineages

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

LMNA mutations in atypical Werner's syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

RNA leaching of transcription factors disrupts transcription in myotonic dystrophy

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

21 April 2017

1 reference

https://api.crossref.org/works/10.1111/J.1540-8167.2006.00427.X

Development of the cardiac conduction system

21 April 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Cytoarchitecture and intercalated disks of the working myocardium and the conduction system in the mammalian heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Hemodynamic-dependent patterning of endothelin converting enzyme 1 expression and differentiation of impulse-conducting Purkinje fibers in the embryonic heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Trafficking and functional expression of cardiac Na+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Molecular mechanism for an inherited cardiac arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Infants with long-QT syndrome and 2:1 atrioventricular block

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Pacemaker channel dysfunction in a patient with sinus node disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Function follows form: cardiac conduction system defects in Nkx2-5 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

T-box transcription factors and their roles in regulatory hierarchies in the developing heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

T-box genes and heart development: putting the "T" in heart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

An analytical study of the physiology and pathology of the propagation of cardiac action potentials

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Expression pattern of connexin gene products at the early developmental stages of the mouse cardiovascular system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Developmental regulation of connexin 40 gene expression in mouse heart correlates with the differentiation of the conduction system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Progressive atrioventricular conduction block in a mouse myotonic dystrophy model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

A progeroid syndrome in mice is caused by defects in A-type lamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

The nuclear envelope, muscular dystrophy and gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Demonstration of mechanical connections between integrins, cytoskeletal filaments, and nucleoplasm that stabilize nuclear structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Myotonic dystrophy: the role of RNA CUG triplet repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Pompe's disease presenting as hypertrophic myocardiopathy with Wolff-Parkinson-White syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

AMPK beta subunit targets metabolic stress sensing to glycogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

AMP-activated protein kinase: greater AMP dependence, and preferential nuclear localization, of complexes containing the alpha2 isoform.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Biological pacemaker created by gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Expression and function of a biological pacemaker in canine heart

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Biological pacemaker implanted in canine left bundle branch provides ventricular escape rhythms that have physiologically acceptable rates

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Human mesenchymal stem cells as a gene delivery system to create cardiac pacemakers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X

Somatic events modify hypertrophic cardiomyopathy pathology and link hypertrophy to arrhythmia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1540-8167.2006.00427.X