Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
about
Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decayReduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patientsSMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decayMechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonStructure of yeast Dom34: a protein related to translation termination factor Erf1 and involved in No-Go decayBlasticidin S inhibits translation by trapping deformed tRNA on the ribosomeOrganizing principles of mammalian nonsense-mediated mRNA decayDisruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiationCRISPR-Cas9-based knockout of the prion protein and its effect on the proteomeMastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequence.A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian familyAminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.Detecting BRCA2 protein truncation in tissue biopsies to identify breast cancers that arise in BRCA2 gene mutation carriers.The unfolded protein response affects readthrough of premature termination codonsLarge-scale evidence for conservation of NMD candidature across mammals.Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?A pan-cancer genome-wide analysis reveals tumour dependencies by induction of nonsense-mediated decayCryptic transcription mediates repression of subtelomeric metal homeostasis genes.Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.Intracellular calcium regulates nonsense-mediated mRNA decay.When a ribosome encounters a premature termination codon.Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.Position of premature termination codons determines susceptibility of hERG mutations to nonsense-mediated mRNA decay in long QT syndromeLIPH expression in skin and hair follicles of normal coat and Rex rabbits.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.Antisense therapy in neurologyInhibition of nonsense-mediated mRNA decay by antisense morpholino oligonucleotides restores functional expression of hERG nonsense and frameshift mutations in long-QT syndromeUnexpected roles for UPF1 in HIV-1 RNA metabolism and translation.Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish.MicroRNA-mediated repression of nonsense mRNAs.Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.Identification of elements in human long 3' UTRs that inhibit nonsense-mediated decay.Translation of nonSTOP mRNA is repressed post-initiation in mammalian cellsExpanding rare disease drug trials based on shared molecular etiologyNavigating without a road mapInhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies.USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis.
P2860
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P2860
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@ast
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@en
type
label
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@ast
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@en
prefLabel
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@ast
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@en
P1476
Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges.
@en
P2093
Holly A Kuzmiak
P304
P356
10.1016/J.MOLMED.2006.05.005
P577
2006-06-16T00:00:00Z