SCNM1, a putative RNA splicing factor that modifies disease severity in mice
about
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegenerationRapid screening of yeast mutants with reporters identifies new splicing phenotypes.The neurogenetics of alternative splicingAn update on transcriptional and post-translational regulation of brain voltage-gated sodium channelsExon silencing by UAGG motifs in response to neuronal excitationPathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4JGenetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo.Glycine receptor mouse mutants: model systems for human hyperekplexiaModifiers of von Willebrand factor identified by natural variation in inbred strains of mice.The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular traffickingComplex seizure disorder caused by Brunol4 deficiency in mice.Genome-wide survey of allele-specific splicing in humans.Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.Mouse genetic background influences the dental phenotype.A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.Evolution of alternative splicing in primate brain transcriptomes.MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data.Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.Modifier genes and the plasticity of genetic networks in mice.Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frameNonsense-associated alternative splicing of T-cell receptor beta genes: no evidence for frame dependenceSodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.Modifier genes and non-genetic factors reshape anatomical deficits in Zfp423-deficient mice.A modifier gene alleviates hypothyroidism-induced hearing impairment in Pou1f1dw dwarf mice.Contrasting genetic architectures in different mouse reference populations used for studying complex traits.Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics.Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8AGenomic variants in exons and introns: identifying the splicing spoilers.Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene.The impact of alternative splicing in vivo: mouse models show the way.Sodium channel mutations in epilepsy and other neurological disorders.Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisisThe genetics of health.Voltage-gated sodium channels: action players with many faces.A targeted deleterious allele of the splicing factor SCNM1 in the mouse.The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?Mouse forward genetics in the study of the peripheral nervous system and human peripheral neuropathyGenetics of congenital adrenal hyperplasia.
P2860
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P2860
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
description
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
article publié dans la revue scientifique Science
@fr
artículu científicu espublizáu en 2003
@ast
im August 2003 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2003/08/15)
@sk
vědecký článek publikovaný v roce 2003
@cs
wetenschappelijk artikel (gepubliceerd op 2003/08/15)
@nl
наукова стаття, опублікована в серпні 2003
@uk
name
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@ast
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@en
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@nl
type
label
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@ast
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@en
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@nl
prefLabel
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@ast
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@en
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@nl
P356
P1433
P1476
SCNM1, a putative RNA splicing factor that modifies disease severity in mice
@en
P2093
Michelle Trudeau
Miriam H Meisler
P304
P356
10.1126/SCIENCE.1086187
P407
P577
2003-08-01T00:00:00Z