An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.
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Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.Heterogeneity of subcellular localization and electrophoretic mobility of survival motor neuron (SMN) protein in mammalian neural cells and tissuesA SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA miceEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseDiagnosis of spinal muscular atrophy in an SMN non-deletion patient using a quantitative PCR screen and mutation analysisSubtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7.Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon.Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and IIISplicing of the Survival Motor Neuron genes and implications for treatment of SMATemporal requirement for high SMN expression in SMA miceA single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouseAntisense oligonucleotides for the treatment of spinal muscular atrophy.Maternal mosaicism for a second mutational event in a type I spinal muscular atrophy family.Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counselingDeterminants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counselingSpinal muscular atrophy: recent advances and future prospects.Advances in therapeutic development for spinal muscular atrophy.Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy numberA mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophyIdentification of a novel cyclic AMP-response element (CRE-II) and the role of CREB-1 in the cAMP-induced expression of the survival motor neuron (SMN) gene.A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy.Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.Targeting RNA-splicing for SMA treatment.NMD: RNA biology meets human genetic medicine.Regulation of gene expression through production of unstable mRNA isoforms.Identification of a cis-acting element for the regulation of SMN exon 7 splicing.Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension.An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA.Optimization of Morpholino Antisense Oligonucleotides Targeting the Intronic Repressor Element1 in Spinal Muscular Atrophy.Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect.SMN protects cells against mutant SOD1 toxicity by increasing chaperone activity.Spinal muscular atrophy: untangling the knot?Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.When is a deletion not a deletion? When it is converted.Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Predominant expression of exon 7 skipped SMN mRNAs in lung based on analysis of transcriptome sequencing datasets.Cloning, characterization, and copy number of the murine survival motor neuron gene: homolog of the spinal muscular atrophy-determining gene.Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex.
P2860
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P2860
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
An 11 base pair duplication in ...... primary SMA-determining gene.
@ast
An 11 base pair duplication in ...... primary SMA-determining gene.
@en
An 11 base pair duplication in ...... type I spinal muscular atrophy
@nl
type
label
An 11 base pair duplication in ...... primary SMA-determining gene.
@ast
An 11 base pair duplication in ...... primary SMA-determining gene.
@en
An 11 base pair duplication in ...... type I spinal muscular atrophy
@nl
prefLabel
An 11 base pair duplication in ...... primary SMA-determining gene.
@ast
An 11 base pair duplication in ...... primary SMA-determining gene.
@en
An 11 base pair duplication in ...... type I spinal muscular atrophy
@nl
P2093
P356
P1476
An 11 base pair duplication in ...... e primary SMA-determining gene
@en
P2093
D W Parsons
J R Mendell
P E McAndrew
U R Monani
P304
P356
10.1093/HMG/5.11.1727
P50
P577
1996-11-01T00:00:00Z