A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Item
http://www.wikidata.org/entity/Q34184793
SMN in spinal muscular atrophy and snRNP biogenesisGenetically modified pig models for neurodegenerative disorders.New therapeutic approaches to spinal muscular atrophy.Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.Identification of a Maleimide-Based Glycogen Synthase Kinase-3 (GSK-3) Inhibitor, BIP-135, that Prolongs the Median Survival Time of Δ7 SMA KO Mouse Model of Spinal Muscular Atrophy.Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.Spinal muscular atrophy: an update on therapeutic progressMouse models of SMA: tools for disease characterization and therapeutic development.Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model
P2860

A humanized Smn gene containing the SMN2 nucleotide alteration in exon 7 mimics SMN2 splicing and the SMA disease phenotype.

Item
http://www.wikidata.org/entity/Q34184793
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
A humanized Smn gene containin ...... and the SMA disease phenotype.
@ast
A humanized Smn gene containin ...... and the SMA disease phenotype.
@en
A humanized Smn gene containin ...... and the SMA disease phenotype.
@nl
type
label
A humanized Smn gene containin ...... and the SMA disease phenotype.
@ast
A humanized Smn gene containin ...... and the SMA disease phenotype.
@en
A humanized Smn gene containin ...... and the SMA disease phenotype.
@nl
prefLabel
A humanized Smn gene containin ...... and the SMA disease phenotype.
@ast
A humanized Smn gene containin ...... and the SMA disease phenotype.
@en
A humanized Smn gene containin ...... and the SMA disease phenotype.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
A humanized Smn gene containin ...... and the SMA disease phenotype.
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P5875
P698
P932