(Q24306589)

GOA release 2020-03-11

Diamond-Blackfan anemia

1 reference

Mara Angelini

1

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Stefano Cannata

2

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Valentina Mercaldo

3

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Luisa Gibello

4

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Claudio Santoro

5

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Irma Dianzani

6

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Fabrizio Loreni

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

7

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language of work or name

English

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publication date

15 July 2007

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published in

Human Molecular Genetics

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volume

16

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issue

14

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page(s)

1720-7

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Ribosome assembly in eukaryotes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

1 reference

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Monocyte chemotactic factor in rheumatoid arthritis synovial tissue. Probably a cross-linked derivative of S19 ribosomal protein.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Analysis of the ribosomal protein S19 interactome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

The Pim kinases control rapamycin-resistant T cell survival and activation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Pim family kinases enhance tumor growth of prostate cancer cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Ribosomes and marrow failure: coincidental association or molecular paradigm?

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021

Diamond-Blackfan anemia: erythropoiesis lost in translation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDM120

7 January 2021