(Q36016299)

English

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

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26 January 2020

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia (English)

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26 January 2020

Diamond-Blackfan anemia

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Marie-Francoise O'Donohue

4

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26 January 2020

Peter Newburger

13

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26 January 2020

Edyta Niewiadomska

14

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26 January 2020

Michał Matysiak

15

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26 January 2020

Pierre-Emmanuel Gleizes

19

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26 January 2020

20

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26 January 2020

Adrianna Vlachos

5

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Adrianna Vlachos

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26 January 2020

16

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Bertil Glader

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26 January 2020

author name string

Hanna T Gazda

1

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26 January 2020

Milena Preti

2

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26 January 2020

Mee Rie Sheen

3

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26 January 2020

Stella M Davies

6

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26 January 2020

Antonis Kattamis

7

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26 January 2020

Leana Doherty

8

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26 January 2020

Michael Landowski

9

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26 January 2020

Christopher Buros

10

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26 January 2020

Roxanne Ghazvinian

11

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26 January 2020

Colin A Sieff

12

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26 January 2020

Eva Atsidaftos

17

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26 January 2020

Jeffrey M Lipton

18

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26 January 2020

publication date

16 April 2012

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26 January 2020

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26 January 2020

33

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26 January 2020

7

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26 January 2020

1037-1044

1 reference

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26 January 2020

Crystal structure of the eukaryotic ribosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

5'-3'-UTR interactions regulate p53 mRNA translation and provide a target for modulating p53 induction after DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

How I treat Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Negative regulation of HDM2 to attenuate p53 degradation by ribosomal protein L26.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Mdm2 regulates p53 mRNA translation through inhibitory interactions with ribosomal protein L26

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein S7 as a novel modulator of p53-MDM2 interaction: binding to MDM2, stabilization of p53 protein, and activation of p53 function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Impaired ribosome biogenesis in Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Regulation of p53 translation and induction after DNA damage by ribosomal protein L26 and nucleolin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Inhibition of MDM2-mediated p53 ubiquitination and degradation by ribosomal protein L5

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Regulation of HDM2 activity by the ribosomal protein L11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Osteogenic sarcoma in a child with transfusion-dependent Diamond-Blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Diamond-Blackfan anemia and malignancy. A case report and a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Is there a role for interleukin-3 in Diamond-Blackfan anaemia? Results of a European multicentre study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

2 October 2017

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

23 September 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

23 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

23 September 2018

Treatment of Diamond-Blackfan anaemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin 3: sustained remissions following IL-3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3370062

23 September 2018

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://pubmed.ncbi.nlm.nih.gov/22431104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3

1 reference

https://pubmed.ncbi.nlm.nih.gov/22431104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22431104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diamond-Blackfan anemia. Natural history and sequelae of treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/22431104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bone marrow transplant in Diamond-Blackfan anemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22431104

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/HUMU.22081

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26 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22431104%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22431104%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

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