Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
about
A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilityDeep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathysiRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy.Ullrich congenital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).Gapmer Antisense Oligonucleotides Suppress the Mutant Allele of COL6A3 and Restore Functional Protein in Ullrich Muscular Dystrophy.Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.Making sense of antisense oligonucleotides: A narrative review.
P2860
Q28505521-DA7AB30E-D593-479B-A1BA-047B7F4F13F8Q33834776-C49D4702-2877-46E3-8D00-C04535F577EBQ35903229-5652512F-1845-4B96-BFBC-12F5DB940009Q36148136-E78E8BF8-EFB8-49FD-A223-321D332FB1E2Q36856928-890DC011-67A8-41E9-B548-6715D26A90C7Q37631970-9B5648EA-2CCC-4F63-A68C-F287B20025CDQ38221009-BD5538F4-94CE-4CAC-875C-F38302120466Q41191227-08C519F3-B394-4C22-B01A-CF61B390C407Q44996024-EFF9C1C1-EC74-4027-8185-0C16B440CAA5Q47438944-FC139893-71FE-4211-883E-8015E9EDEDB2
P2860
Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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2012年论文
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name
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@en
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@nl
type
label
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@en
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@nl
prefLabel
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@en
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@nl
P2093
P2860
P50
P356
P1433
P1476
Antisense-induced messenger de ...... t mutation in Ullrich myopathy
@en
P2093
Alessandra Ferlini
Daniela Perrone
Elena Pegoraro
Elisa Manzati
Francesca Gualandi
Paolo Bonaldo
Patrizia Sabatelli
P2860
P304
P356
10.1089/HUM.2012.109
P577
2012-11-06T00:00:00Z