INT6782

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Context Info
Confidence 0.78
First Reported 1992
Last Reported 2010
Negated 5
Speculated 0
Reported most in Abstract
Documents 156
Total Number 156
Disease Relevance 33.13
Pain Relevance 17.88

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

transmembrane transport (SCN5A)
Anatomy Link Frequency
oocytes 11
embryos 10
sperm 5
brain 4
HeLa 3
SCN5A (Homo sapiens)
SCN5A - R878C (12) SCN5A - R43Q (2)
Pain Link Frequency Relevance Heat
tetrodotoxin 465 100.00 Very High Very High Very High
sodium channel 126 100.00 Very High Very High Very High
depression 82 100.00 Very High Very High Very High
Nav1.7 41 100.00 Very High Very High Very High
nav1.8 16 100.00 Very High Very High Very High
Nav1.9 11 100.00 Very High Very High Very High
Nav1.6 10 100.00 Very High Very High Very High
Root ganglion neuron 4 99.88 Very High Very High Very High
agonist 106 99.70 Very High Very High Very High
Central nervous system 27 99.68 Very High Very High Very High
Disease Link Frequency Relevance Heat
Syndrome 832 100.00 Very High Very High Very High
Reprotox - General 3 810 100.00 Very High Very High Very High
Stress 605 100.00 Very High Very High Very High
Depression 97 100.00 Very High Very High Very High
Poisoning 64 100.00 Very High Very High Very High
Nociception 4 99.84 Very High Very High Very High
Ganglion Cysts 43 99.72 Very High Very High Very High
Ovarian Hyperstimulation Syndrome 65 99.64 Very High Very High Very High
Ovarian Cancer 41 99.60 Very High Very High Very High
Disease 427 99.58 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
SCN5A is expressed in human jejunal circular smooth muscle cells.
Gene_expression (expressed) of SCN5A in smooth muscle cells
1) Confidence 0.78 Published 2002 Journal Neurogastroenterol. Motil. Section Title Doc Link 12358675 Disease Relevance 0 Pain Relevance 0.15
Expression of the rat (RH-I/SkM2) and human (hH1/SCN5A) tetrodotoxin-resistant (TTX-R), voltage-sensitive sodium channels is thought to be specific to cardiac tissue.
Gene_expression (Expression) of hH1 associated with tetrodotoxin and sodium channel
2) Confidence 0.75 Published 2000 Journal Brain Res. Section Abstract Doc Link 11134623 Disease Relevance 0.05 Pain Relevance 0.25
Whole-cell recordings in transiently transfected tsA201 cells expressing the highly homologous SCN5A sodium channel showed that the mutation induces a two-fold to four-fold accelerated recovery from fast inactivation without altering any of the other channel parameters investigated.
Gene_expression (expressing) of SCN5A
3) Confidence 0.75 Published 2005 Journal Lancet Section Body Doc Link 16054936 Disease Relevance 0.06 Pain Relevance 0
The Na channel block caused by lidocaine and RSD1235 can be through the open or inactivated states of the channel, but both equivalently inhibit a late component of Na current (I(Na)), recorded at 22 degrees C using whole-cell patch clamp of Nav 1.5 expressed in HEK cells.
Gene_expression (expressed) of Nav 1.5 associated with lidocaine
4) Confidence 0.75 Published 2006 Journal J. Cardiovasc. Electrophysiol. Section Abstract Doc Link 16686685 Disease Relevance 0.23 Pain Relevance 0.43
subunits SCN1A (Nav1.1, 225 bp), SCN2A (Nav1.2, 297 bp), SCN3A (Nav1.3, 367 bp), SCN4A (Nav1.4, 317 bp), SCN5A (Nav1.5, 294 bp), SCN8A (Nav1.6, 207 bp), SCN9A (Nav1.7, 289 bp), SCN10A (Nav1.8, 347 bp), SCN11A (Nav1.9, 272 bp) and the related isoform SCN7A (Nax, 327 bp) were all expressed in human sperm cDNA (Fig 1).
Gene_expression (expressed) of SCN5A in sperm associated with nav1.3, nav1.1, nav1.2, nav1.8, nav1.7, nav1.6 and nav1.9
5) Confidence 0.75 Published 2009 Journal Reprod Biol Endocrinol Section Body Doc Link PMC2724540 Disease Relevance 0 Pain Relevance 0.97
These results suggest that SCN5A has a newly identified exon for alternative splicing and is more widely expressed than previously thought.
Gene_expression (expressed) of SCN5A
6) Confidence 0.74 Published 2005 Journal Eur. J. Neurosci. Section Abstract Doc Link 16115203 Disease Relevance 0.13 Pain Relevance 0.07
Northern blot analysis showed expression of full-length SCN5A.
Gene_expression (expression) of SCN5A
7) Confidence 0.68 Published 2002 Journal Neurogastroenterol. Motil. Section Abstract Doc Link 12358675 Disease Relevance 0 Pain Relevance 0.13
The data indicate that SCN5A is more widely distributed than previously thought and encodes the pore-forming alpha-subunit of the tetrodotoxin-resistant Na+ current in HJCSM cells.
Gene_expression (distributed) of SCN5A in pore associated with tetrodotoxin
8) Confidence 0.68 Published 2002 Journal Neurogastroenterol. Motil. Section Abstract Doc Link 12358675 Disease Relevance 0 Pain Relevance 0.15
In LQT3, various mutations in SCN5A were identified, which produce a gain of channel function.
Gene_expression (produce) of SCN5A
9) Confidence 0.67 Published 2003 Journal J. Mol. Cell. Cardiol. Section Abstract Doc Link 14654377 Disease Relevance 0.26 Pain Relevance 0.12
The realization that SCN5A mutations producing LQT3 have a "gain-of-function" effect [35] has lent support to our early suggestion [74] to test sodium channel blockers, and especially mexiletine, as possible adjuvants in the management of LQT3 patients [42,75-77].
Gene_expression (producing) of SCN5A associated with sodium channel and mexiletine
10) Confidence 0.67 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2474834 Disease Relevance 0 Pain Relevance 0.16
The realization that SCN5A mutations producing LQT3 have a "gain-of-function" effect [35] has lent support to our early suggestion [74] to test sodium channel blockers, and especially mexiletine, as possible adjuvants in the management of LQT3 patients [42,75-77].
Gene_expression (producing) of LQT3 associated with sodium channel and mexiletine
11) Confidence 0.67 Published 2008 Journal Orphanet J Rare Dis Section Body Doc Link PMC2474834 Disease Relevance 0 Pain Relevance 0.16
A coexisting SCN5A/R43Q variant, although it per se does not prolong repolarization, contributes to the development of ventricular tachyarrhythmias after lidocaine.
Gene_expression (coexisting) of R43Q (R43Q)
12) Confidence 0.65 Published 2008 Journal Heart Rhythm Section Body Doc Link 18848812 Disease Relevance 0.05 Pain Relevance 0
Using RT-PCR analysis, we detected hH1/SCN5A mRNA in both fetal and adult human brain.
Gene_expression (detected) of hH1 in brain
13) Confidence 0.65 Published 2000 Journal Brain Res. Section Abstract Doc Link 11134623 Disease Relevance 0.17 Pain Relevance 0.26
In tsA201 cells transfected with SCN5A/R43Q, although the baseline kinetics of the Na current were similar to wild type, lidocaine caused a unique hyperpolarizing shift of the activation and increased the availability of Na currents at resting voltages.
Gene_expression (transfected) of R43Q (R43Q)
14) Confidence 0.65 Published 2008 Journal Heart Rhythm Section Body Doc Link 18848812 Disease Relevance 0.21 Pain Relevance 0
Sequence analysis has indicated that hB1 is highly homologus with human cardiac Nav1.5/SCN5A (hH1) with >98% amino acid identity.
Gene_expression (/) of SCN5A
15) Confidence 0.65 Published 2009 Journal Neurosci. Res. Section Abstract Doc Link 19376164 Disease Relevance 0 Pain Relevance 0.08
RT-PCR on the harvested cells showed that SCN5A was present in circular but not in longitudinal muscle.
Neg (not) Gene_expression (present) of SCN5A in longitudinal muscle
16) Confidence 0.60 Published 2002 Journal Neurogastroenterol. Motil. Section Abstract Doc Link 12358675 Disease Relevance 0 Pain Relevance 0.14
Functional analysis of the mutation, introduced in the highly homologous human SCN5A, revealed markedly slowed inactivation and a two-fold faster recovery from fast inactivation predicting enhanced neuronal excitation.
Gene_expression (introduced) of SCN5A in neuronal
17) Confidence 0.60 Published 2007 Journal Hum. Mutat. Section Abstract Doc Link 17397047 Disease Relevance 0.88 Pain Relevance 0.69
D1790G (DG), an LQT-3 mutation of the C-terminal region of the Na(+) channel alpha-subunit, alters steady-state inactivation of expressed channels but does not promote sustained Na(+) channel activity.
Gene_expression (mutation) of LQT-3
18) Confidence 0.59 Published 2000 Journal Circulation Section Abstract Doc Link 10952963 Disease Relevance 0.17 Pain Relevance 0.12
Hypothesis #3.1 (patterns of GSE, RGEI/NGREGI, HHI, SF12 and HSU over time) will be tested by repeated measures 2- factor ANCOVA with between groups factor (non-bereaved versus bereaved) and a repeated-measures factor for time (3, 6, and 12 months) to describe the patterns of the scores over time.
Gene_expression (patterns) of HHI
19) Confidence 0.58 Published 2010 Journal BMC Palliat Care Section Body Doc Link PMC2859076 Disease Relevance 0 Pain Relevance 0.08
The most obvious effect of the mutation is an increase in late Na+ channel current over a broad range of cellular membrane potentials, an effect similar to other previously-described LQT-3 mutations such as the ?
Gene_expression (mutations) of LQT-3
20) Confidence 0.58 Published 2007 Journal PLoS ONE Section Body Doc Link PMC2082660 Disease Relevance 0.05 Pain Relevance 0.14

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