(Q40496380)

21 September 2017

title

Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia (English)

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21 September 2017

author

Andrew Chatr-Aryamontri

object named as

Andrew Chatr-Aryamontri

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21 September 2017

Mara Angelini

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21 September 2017

Emanuela Garelli

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21 September 2017

Gil Tchernia

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21 September 2017

Ugo Ramenghi

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21 September 2017

Irma Dianzani

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21 September 2017

Fabrizio Loreni

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21 September 2017

publication date

1 December 2004

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21 September 2017

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21 September 2017

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21 September 2017

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21 September 2017

page(s)

526-533

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Nerve growth factor selectively regulates expression of transcripts encoding ribosomal proteins

21 September 2017

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Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

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Congenital afibrinogenemia: mutations leading to premature termination codons in fibrinogen Aalpha -chain gene are not associated with the decay of the mutant mRNAs

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Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort

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Beta-globin nonsense mutation: deficient accumulation of mRNA occurs despite normal cytoplasmic stability

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The human intronless melanocortin 4-receptor gene is NMD insensitive

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Killing the messenger: new insights into nonsense-mediated mRNA decay

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beta 0 thalassemia, a nonsense mutation in man

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Ribosomal protein S19 expression during erythroid differentiation.

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Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology

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7 January 2021

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

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7 January 2021

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

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7 January 2021

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

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Coordinate regulation of ribosomal protein mRNA level in regenerating rat liver. Study with the corresponding mouse cloned cDNAs

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7 January 2021

Nonsense-mediated mRNA decay in health and disease

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An mRNA surveillance mechanism that eliminates transcripts lacking termination codons

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Chain-terminating mutations in the APC gene lead to alterations in APC RNA and protein concentration

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Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia

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7 January 2021

Evidence for a pioneer round of mRNA translation: mRNAs subject to nonsense-mediated decay in mammalian cells are bound by CBP80 and CBP20

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7 January 2021

Role of the nonsense-mediated decay factor hUpf3 in the splicing-dependent exon-exon junction complex

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7 January 2021

Initiation of translation in prokaryotes and eukaryotes

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7 January 2021

The spliceosome deposits multiple proteins 20-24 nucleotides upstream of mRNA exon-exon junctions

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7 January 2021

Interference of nonsense mutations with eukaryotic messenger RNA stability

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Mammalian heat shock p70 and histone H4 transcripts, which derive from naturally intronless genes, are immune to nonsense-mediated decay

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7 January 2021

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

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7 January 2021

A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance

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7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

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7 January 2021

Nonsense-mediated decay of human HEXA mRNA.

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7 January 2021

Mutant transcripts of the LDL receptor gene: mRNA structure and quantity

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7 January 2021

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

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7 January 2021

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

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7 January 2021

Exosome-mediated recognition and degradation of mRNAs lacking a termination codon

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7 January 2021

Non-stop decay--a new mRNA surveillance pathway

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7 January 2021

Nuclear mRNA surveillance

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7 January 2021

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20117

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21 September 2017

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