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Search results 501 to 556 out of 556 for Scn5a

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Type Details Score
Genotype
Genotype
Symbol: Scn5a/Scn5a<+>
Background: involves: 129
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn5a/Scn5a<+>
Background: involves: 129 * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
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DO Term
DOID:0111074 | progressive familial heart block type IA
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DO Term
DOID:0080662 | atrial standstill 1
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Allele
Scn5a<em1Coop> | MGI:6415727
Name: sodium channel, voltage-gated, type V, alpha; endonuclease-mediated mutation 1, Thomas A Cooper
Allele Type: Endonuclease-mediated
Attribute String: Modified isoform(s)
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Gene
2702 | GJA5
Type: gene
Organism: human
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Strain
MGI:7840388 | 129-Scn5a<tm3(SCN5A*)Rdn>/Vu
Attribute String: mutant stock, targeted mutation
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Genotype
Genotype
Symbol: Scn5a/Scn5a
Background: involves: FVB/NJ
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn5a/Scn5a<+>
Background: involves: FVB/NJ
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Scn5a/Scn5a
Background: involves: C57BL/6NJ * FVB/NJ
Zygosity: hm
Has Mutant Allele: true
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Publication
29618523 | J:261477
First Author: Milam AAV
Year: 2018
Journal: J Immunol
Title: Tuning T Cell Signaling Sensitivity Alters the Behavior of CD4+ T Cells during an Immune Response.
Volume: 200
Issue: 10
Pages: 3429-3437
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Publication
32870823 | J:350012
 
First Author: Abrams J
Year: 2020
Journal: JCI Insight
Title: Fibroblast growth factor homologous factors tune arrhythmogenic late NaV1.5 current in calmodulin binding-deficient channels.
Volume: 5
Issue: 19
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Publication
35662881 | J:359225
First Author: Chakouri N
Year: 2022
Journal: Nat Cardiovasc Res
Title: Fibroblast growth factor homologous factors serve as a molecular rheostat in tuning arrhythmogenic cardiac late sodium current.
Volume: 1
Issue: 5
Pages: 1-13
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Publication
10358800 | -
First Author: Antzelevitch C
Year: 1999
Journal: Curr Opin Cardiol
Title: Ion channels and ventricular arrhythmias: cellular and ionic mechanisms underlying the Brugada syndrome.
Volume: 14
Issue: 3
Pages: 274-9
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Publication
10471492 | -
First Author: Schott JJ
Year: 1999
Journal: Nat Genet
Title: Cardiac conduction defects associate with mutations in SCN5A.
Volume: 23
Issue: 1
Pages: 20-1
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Protein Domain
IPR008053 | Na_channel_a5su
Type: Family
Description: Voltage-dependent sodium channels are transmembrane (TM) proteins responsible for the depolarising phase of the action potential in mostelectrically excitable cells []. They may exist in 3 states []: the resting state, where the channel is closed; the activated state, where the channel is open; and the inactivated state, where the channel is closed and refractory to opening. Several different structurally and functionally distinct isoforms are found in mammals, coded for by a multigene family, these being responsible for the different types of sodium ion currents found in excitable tissues.There are nine pore-forming alpha subunit of voltage-gated sodium channels consisting of four membrane-embedded homologous domains (I-IV), each consisting of six α-helical segments (S1-S6), three cytoplasmic loops connecting the domains, and a cytoplasmic C-terminal tail. The S6 segments of the four domains form the inner surface of the pore, while the S4 segments bear clusters of basic residues that constitute the channel's voltage sensors [, , ].The SCN5A gene encodes the NaH1 channel and is expressed in cardiac muscle,foetal skeletal muscle and denervated adult skeletal muscle. Mutationsin the SCN5A gene affect the function of NaH1 channels in the heart and areone of the three causes of Long QT syndrome, an inherited cardiac arrhythmiathat can cause abrupt loss of consciousness, seizures and sudden death []; it is also associated with Brugada syndrome []and conduction systemdisease [].
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Publication
17512504 | J:126850
First Author: Hesse M
Year: 2007
Journal: Cardiovasc Res
Title: Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.
Volume: 75
Issue: 3
Pages: 498-509
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Publication
17490620 | J:122470
First Author: Wu L
Year: 2007
Journal: Biochem Biophys Res Commun
Title: Induction of high STAT1 expression in transgenic mice with LQTS and heart failure.
Volume: 358
Issue: 2
Pages: 449-54
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Publication
34710060 | J:361261
 
First Author: Avula UMR
Year: 2021
Journal: JCI Insight
Title: Attenuating persistent sodium current-induced atrial myopathy and fibrillation by preventing mitochondrial oxidative stress.
Volume: 6
Issue: 23
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Publication
29992740 | -
First Author: Baroni D
Year: 2018
Journal: Hum Mutat
Title: A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.
Volume: 39
Issue: 10
Pages: 1402-1415
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Protein Domain
IPR044568 | Na_chnl_b1
Type: Family
Description: The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more non-pore-forming beta subunits. There are five different beta-subunit proteins (beta-1, beta-1B, beta-2, beta-3, and beta-4) encoded by four genes (SCN1B-SCN4B; beta-1B is a splice variant of SCN1B) [, ]. Beta-subunits modulate the kinetics and voltage dependence of the alpha-subunits and they also affect the voltage-gated potassium channels. These subunits participate in nonconducting roles, including cell-cell and cell-matrix adhesion, directing neuronal proliferation, migration, and fasciculation, and modulating the effects of pharmacological compounds on voltage-gated sodium channels, playing important roles in development and disease [, ].Subunit beta-1 is crucial in the assembly, expression, and functional modulation of the sodium channel that can modulate multiple alpha subunit isoforms from brain, skeletal muscle, and heart [, ]. Both beta-1 and beta-3 associate with neurofascin through their extracellular immunoglobulin-like domains. This association may target the sodium channels to the nodes of Ranvier of developing axons and retain these channels at the nodes in mature myelinated axons [].This family represents the beta-1 subunit which modulates the activity of multiple pore-forming alpha subunits, such as SCN1A, SCN2A, SCN3A, SCN4A, SCN5A and SCN10A. It plays a critical role in neuronal migration and pathfinding during brain development, and its function is dependent on Na+ current and gamma-secretase activity [, ]. Alterations in this subunit cause epilepsy and cardiac arrhythmia []. Deletion of SCN1B results in Dravet Syndrome, a severe pediatric encephalopathy characterised by epilepsy development [, ]. The D25N mutation in this subunit causes generalised epilepsy with febrile seizure plus type 1 (GEFS+), leading to a maturation (glycosylation) defect of the protein which impairs its targeting to the plasma membrane and interaction with alpha subunits [, ].
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Publication
10444332 | J:57019
First Author: Dib-Hajj SD
Year: 1999
Journal: Genomics
Title: Coding sequence, genomic organization, and conserved chromosomal localization of the mouse gene Scn11a encoding the sodium channel NaN.
Volume: 59
Issue: 3
Pages: 309-18
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Publication
32198206 | J:290058
First Author: Polina I
Year: 2020
Journal: Proc Natl Acad Sci U S A
Title: Loss of insulin signaling may contribute to atrial fibrillation and atrial electrical remodeling in type 1 diabetes.
Volume: 117
Issue: 14
Pages: 7990-8000
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Publication
30427720 | J:270095
First Author: Si M
Year: 2019
Journal: Am J Physiol Cell Physiol
Title: Genetic ablation or pharmacological inhibition of Kv1.1 potassium channel subunits impairs atrial repolarization in mice.
Volume: 316
Issue: 2
Pages: C154-C161
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Publication
34489488 | J:313785
First Author: Wang J
Year: 2021
Journal: Sci Rep
Title: Cardiomyocyte-specific deletion of β-catenin protects mouse hearts from ventricular arrhythmias after myocardial infarction.
Volume: 11
Issue: 1
Pages: 17722
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Publication
28191886 | J:251095
First Author: Vikram A
Year: 2017
Journal: Nat Med
Title: Sirtuin 1 regulates cardiac electrical activity by deacetylating the cardiac sodium channel.
Volume: 23
Issue: 3
Pages: 361-367
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Publication
24288358 | J:207931
First Author: Jones JM
Year: 2014
Journal: Genesis
Title: Modeling human epilepsy by TALEN targeting of mouse sodium channel Scn8a.
Volume: 52
Issue: 2
Pages: 141-8
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Publication
27932425 | J:266728
 
First Author: Bao Y
Year: 2016
Journal: Circ Arrhythm Electrophysiol
Title: Scn2b Deletion in Mice Results in Ventricular and Atrial Arrhythmias.
Volume: 9
Issue: 12
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Publication
19351516 | J:177262
First Author: Hakim P
Year: 2008
Journal: Prog Biophys Mol Biol
Title: Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties.
Volume: 98
Issue: 2-3
Pages: 251-66
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Publication
19796257 | J:177246
First Author: Hakim P
Year: 2010
Journal: Acta Physiol (Oxf)
Title: Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties.
Volume: 198
Issue: 1
Pages: 47-59
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Publication
36982627 | J:345096
 
First Author: Loi M
Year: 2023
Journal: Int J Mol Sci
Title: Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Volume: 24
Issue: 6
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Publication
33515676 | J:304100
First Author: Hu YF
Year: 2021
Journal: Biochim Biophys Acta Mol Basis Dis
Title: ALDH2 deficiency induces atrial fibrillation through dysregulated cardiac sodium channel and mitochondrial bioenergetics: A multi-omics analysis.
Volume: 1867
Issue: 5
Pages: 166088
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Publication
26429810 | J:324277
First Author: Koizumi A
Year: 2016
Journal: Eur Heart J
Title: Genetic defects in a His-Purkinje system transcription factor, IRX3, cause lethal cardiac arrhythmias.
Volume: 37
Issue: 18
Pages: 1469-75
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Publication
17967977 | J:196102
First Author: London B
Year: 2007
Journal: Circulation
Title: Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
Volume: 116
Issue: 20
Pages: 2260-8
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Publication
25239140 | J:251320
First Author: Makara MA
Year: 2014
Journal: Circ Res
Title: Ankyrin-G coordinates intercalated disc signaling platform to regulate cardiac excitability in vivo.
Volume: 115
Issue: 11
Pages: 929-38
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Publication
8125980 | -
First Author: Makita N
Year: 1994
Journal: J Biol Chem
Title: Voltage-gated Na+ channel beta 1 subunit mRNA expressed in adult human skeletal muscle, heart, and brain is encoded by a single gene.
Volume: 269
Issue: 10
Pages: 7571-8
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Publication
14622265 | -
First Author: Qin N
Year: 2003
Journal: Eur J Biochem
Title: Molecular cloning and functional expression of the human sodium channel beta1B subunit, a novel splicing variant of the beta1 subunit.
Volume: 270
Issue: 23
Pages: 4762-70
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Publication
21994374 | -
First Author: Patino GA
Year: 2011
Journal: J Neurosci
Title: Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.
Volume: 31
Issue: 41
Pages: 14577-91
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Publication
27697822 | J:249973
First Author: Khandekar A
Year: 2016
Journal: Circ Res
Title: Notch-Mediated Epigenetic Regulation of Voltage-Gated Potassium Currents.
Volume: 119
Issue: 12
Pages: 1324-1338
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Publication
28232072 | J:251627
 
First Author: Willis MS
Year: 2017
Journal: J Mol Cell Cardiol
Title: BRG1 and BRM function antagonistically with c-MYC in adult cardiomyocytes to regulate conduction and contractility.
Volume: 105
Pages: 99-109
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Publication
36524479 | J:361051
First Author: Bersell KR
Year: 2023
Journal: Circulation
Title: Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
Volume: 147
Issue: 10
Pages: 824-840
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Publication
28674041 | J:267302
First Author: Qiao Y
Year: 2017
Journal: Circ Res
Title: Transient Notch Activation Induces Long-Term Gene Expression Changes Leading to Sick Sinus Syndrome in Mice.
Volume: 121
Issue: 5
Pages: 549-563
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Publication
11470829 | -
First Author: Ratcliffe CF
Year: 2001
Journal: J Cell Biol
Title: Sodium channel beta1 and beta3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain.
Volume: 154
Issue: 2
Pages: 427-34
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Protein
Q9JJV9
Organism: Mus musculus/domesticus
Length: 2019  
Fragment?: false
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Protein
A0A0R5RP25
Organism: Mus musculus/domesticus
Length: 1966  
Fragment?: false
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Protein
A0A0R5RP31
Organism: Mus musculus/domesticus
Length: 1966  
Fragment?: false
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Protein
A0A0R4J1M7
Organism: Mus musculus/domesticus
Length: 2020  
Fragment?: false
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Protein
K3W4N7
Organism: Mus musculus/domesticus
Length: 2020  
Fragment?: false
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Publication
32989327 | J:305785
First Author: Bartleson JM
Year: 2020
Journal: Nat Immunol
Title: Strength of tonic T cell receptor signaling instructs T follicular helper cell-fate decisions.
Volume: 21
Issue: 11
Pages: 1384-1396
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Publication
27143702 | -
 
First Author: Kaplan DI
Year: 2016
Journal: Cold Spring Harb Perspect Med
Title: Role of Sodium Channels in Epilepsy.
Volume: 6
Issue: 6
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Publication
6209577 | -
First Author: Noda M
Year: 1984
Journal: Nature
Title: Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence.
Volume: 312
Issue: 5990
Pages: 121-7
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Publication
1317577 | -
First Author: George AL Jr
Year: 1992
Journal: Proc Natl Acad Sci U S A
Title: Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family.
Volume: 89
Issue: 11
Pages: 4893-7
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Publication
21947499 | -
First Author: Goldfarb M
Year: 2012
Journal: Cell Mol Life Sci
Title: Voltage-gated sodium channel-associated proteins and alternative mechanisms of inactivation and block.
Volume: 69
Issue: 7
Pages: 1067-76
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Publication
22007171 | -
 
First Author: Brackenbury WJ
Year: 2011
Journal: Front Pharmacol
Title: Na Channel β Subunits: Overachievers of the Ion Channel Family.
Volume: 2
Pages: 53
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Protein
P97952
Organism: Mus musculus/domesticus
Length: 218  
Fragment?: false
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Publication
1323284 | -
First Author: Sato C
Year: 1992
Journal: Biochem Biophys Res Commun
Title: Proposed tertiary structure of the sodium channel.
Volume: 186
Issue: 2
Pages: 1158-67
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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