Pages that link to "Q71139469"

The following pages link to Genomic organization of the human SCN5A gene encoding the cardiac sodium channel (Q71139469):

Displaying 50 items.

• Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A (Q22008052) (← links)
• Cardiac conduction defects associate with mutations in SCN5A (Q22010507) (← links)
• Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A (Q22011020) (← links)
• Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel (Q24302352) (← links)
• Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5 (Q24306114) (← links)
• Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations (Q24317193) (← links)
• Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. (Q24536353) (← links)
• Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test (Q24607414) (← links)
• Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison (Q26772794) (← links)
• The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology (Q26799744) (← links)
• Ion Channels in the Heart (Q26829681) (← links)
• Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus (Q28204578) (← links)
• Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A) (Q28206505) (← links)
• Structure of the sodium channel gene SCN11A: evidence for intron-to-exon conversion model and implications for gene evolution (Q28214636) (← links)
• The genetic basis of Brugada syndrome: a mutation update (Q28252115) (← links)
• The genetic basis of long QT and short QT syndromes: a mutation update (Q28262724) (← links)
• Genetic basis and molecular mechanism for idiopathic ventricular fibrillation (Q28265902) (← links)
• Terminal intron dinucleotide sequences do not distinguish between U2- and U12-dependent introns (Q28276093) (← links)
• Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5 (Q28279905) (← links)
• Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a (Q28587543) (← links)
• Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium (Q28655342) (← links)
• Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts (Q33145152) (← links)
• Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes (Q33153667) (← links)
• Heart rate-dependent variability of cardiac events in type 2 congenital long-QT syndrome (Q33159253) (← links)
• Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation (Q33161026) (← links)
• AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes (Q33595931) (← links)
• An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing (Q33655317) (← links)
• The long QT syndromes: genetic basis and clinical implications (Q33970623) (← links)
• Etiology of sudden death in the community: results of anatomical, metabolic, and genetic evaluation (Q34000106) (← links)
• Genetic analysis of Brugada syndrome and congenital long-QT syndrome type 3 in the Chinese (Q34153714) (← links)
• A Proton Leak Current through the Cardiac Sodium Channel Is Linked to Mixed Arrhythmia and the Dilated Cardiomyopathy Phenotype (Q34295483) (← links)
• Sigma-1 receptor agonists directly inhibit Nav1.2/1.4 channels. (Q34310798) (← links)
• A novel splice mutation of HERG in a Chinese family with long QT syndrome (Q34425348) (← links)
• Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients (Q34454524) (← links)
• Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome (Q34493495) (← links)
• Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. (Q34514756) (← links)
• A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome (Q34544772) (← links)
• Kinetic model of Nav1.5 channel provides a subtle insight into slow inactivation associated excitability in cardiac cells (Q34734118) (← links)
• A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome (Q34808264) (← links)
• A sodium channel pore mutation causing Brugada syndrome (Q35605502) (← links)
• The Relationship Between Gastric Myoelectric Activity and SCN5A Mutation Suggesting Sodium Channelopathy in Patients With Brugada Syndrome and Functional Dyspepsia - A Pilot Study. (Q35730534) (← links)
• Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome (Q35754059) (← links)
• Evolution and divergence of sodium channel genes in vertebrates. (Q36317103) (← links)
• Post-transcriptional regulation of cardiac sodium channel gene SCN5A expression and function by miR-192-5p (Q36591586) (← links)
• Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records (Q36592201) (← links)
• The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome (Q36597505) (← links)
• Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome (Q36724804) (← links)
• A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect (Q36927098) (← links)
• Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel (Q36931645) (← links)
• αB-Crystallin Interacts with Nav1.5 and Regulates Ubiquitination and Internalization of Cell Surface Nav1.5. (Q36987607) (← links)