Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.
about
Selective translational repression of truncated proteins from frameshift mutation-derived mRNAs in tumorsInteractions between UPF1, eRFs, PABP and the exon junction complex suggest an integrated model for mammalian NMD pathwaysMechanism of escape from nonsense-mediated mRNA decay of human beta-globin transcripts with nonsense mutations in the first exonSplicing remodels messenger ribonucleoprotein architecture via eIF4A3-dependent and -independent recruitment of exon junction complex componentsBiased exon/intron distribution of cryptic and de novo 3' splice sitesMyoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotypeMutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variantsRegulator of sex-limitation (Rsl) encodes a pair of KRAB zinc-finger genes that control sexually dimorphic liver gene expressionAntisense oligonucleotide-induced alternative splicing of the APOB mRNA generates a novel isoform of APOB.The uORF-containing thrombopoietin mRNA escapes nonsense-mediated decay (NMD).Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.Computational definition of sequence motifs governing constitutive exon splicing.Targeting protein translation, RNA splicing, and degradation by morpholino-based conjugates in Plasmodium falciparum.Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expressionPolyamine-regulated unproductive splicing and translation of spermidine/spermine N1-acetyltransferase.MicroRNA-mediated repression of nonsense mRNAs.NMD Classifier: A reliable and systematic classification tool for nonsense-mediated decay events.Prevalence of PALB2 mutations in Australasian multiple-case breast cancer familiesControl of human beta-globin mRNA stability and its impact on beta-thalassemia phenotype.The prothrombin 20209 C-->T mutation in Jewish-Moroccan Caucasians: molecular analysis of gain-of-function of 3' end processing.PPM1D430, a novel alternative splicing variant of the human PPM1D, can dephosphorylate p53 and exhibits specific tissue expression.The efficiency of nonsense-mediated mRNA decay is an inherent character and varies among different cells.Using 5'-PTMs to repair mutant beta-globin transcripts.Intrinsic differences between authentic and cryptic 5' splice sites.Generation and Characterization of a Transgenic Mouse Carrying a Functional Human β -Globin Gene with the IVSI-6 Thalassemia Mutation.Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalitiesMolecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.Cryptic splicing sites are differentially utilized in vivo.Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay.Targeted mutagenesis of the murine IRP1 and IRP2 genes reveals context-dependent RNA processing differences in vivo.Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation.In vivo analysis of translation initiation sites in Plasmodium falciparum.Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
P2860
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P2860
Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay.
description
2002 nî lūn-bûn
@nan
2002 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մարտին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@ast
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@en
type
label
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@ast
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@en
prefLabel
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@ast
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@en
P2093
P356
P1433
P1476
Abnormally spliced beta-globin ...... nonsense-mediated mRNA decay.
@en
P2093
Andreas E Kulozik
Gabriele Neu-Yilik
Rolf Thermann
Sven Danckwardt
P304
P356
10.1182/BLOOD.V99.5.1811
P407
P577
2002-03-01T00:00:00Z