(Q24321535)

GOA release 2020-03-11

Ribosomal protein S24

1 reference

structural constituent of ribosome

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Diamond-Blackfan anemia

1 reference

inferred from title

author

Pierre-Emmanuel Gleizes

object named as

Pierre-Emmanuel Gleizes

10

1 reference

ORCID Public Data File 2021

author name string

Maria Francesca Campagnoli

1

0 references

Ugo Ramenghi

2

0 references

Marta Armiraglio

3

0 references

Paola Quarello

4

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Emanuela Garelli

5

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Adriana Carando

6

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Federica Avondo

7

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Elisa Pavesi

8

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Sébastien Fribourg

9

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Fabrizio Loreni

11

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Irma Dianzani

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

12

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language of work or name

English

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publication date

July 2008

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published in

Human Mutation

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volume

29

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issue

7

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page(s)

911-20

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

Mechanisms of selective anticancer action of histone deacetylase inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

Identification of receptor-binding sites of monocyte chemotactic S19 ribosomal protein dimer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Oral administration of leucine stimulates ribosomal protein mRNA translation but not global rates of protein synthesis in the liver of rats

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

Translational regulation of terminal oligopyrimidine mRNAs induced by serum and amino acids involves distinct signaling events

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Hydroxamide derivatives of short-chain fatty acid have erythropoietic activity and induce gamma gene expression in vivo

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Ribosomal Protein S19 Gene Mutations in Patients with Diamond-Blackfan Anemia and Identification of Ribosomal Protein S19 Pseudogenes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Identification of microdeletions spanning the Diamond-Blackfan anemia locus on 19q13 and evidence for genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Challenges and opportunities in clinical trials for spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

The role of histone acetylation in SMN gene expression.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Analysis of nucleolar protein dynamics reveals the nuclear degradation of ribosomal proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Comparative analysis of ribosomal proteins in complete genomes: an example of reductive evolution at the domain scale

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

Osteogenic sarcoma associated with Diamond-Blackfan anemia: a report from the Diamond-Blackfan Anemia Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Ribosomes and marrow failure: coincidental association or molecular paradigm?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Identification of a human decapping complex associated with hUpf proteins in nonsense-mediated decay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

A novel nucleolar protein interacts with ribosomal protein S19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Analysis of the ribosomal protein S19 interactome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

PipeAlign: A new toolkit for protein family analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Successful treatment of a Diamond-Blackfan anemia patient with amino acid leucine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

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/10.1002%2FHUMU.20752

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Fibroblast growth factor-2 interacts with free ribosomal protein S19

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Selective inhibition of endoplasmic reticulum-associated degradation rescues DeltaF508-cystic fibrosis transmembrane regulator and suppresses interleukin-8 levels: therapeutic implications.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20752

7 January 2021