(Q36581726)

15 August 2017

1 reference

title

Recent insights into the pathogenesis of Diamond-Blackfan anaemia (English)

1 reference

15 August 2017

Hanna T Gazda

1

1 reference

PubMed ID

16942586

15 August 2017

Colin A Sieff

series ordinal

2

1 reference

PubMed ID

16942586

15 August 2017

language of work or name

English

0 references

publication date

31 August 2006

1 reference

British Journal of Haematology

15 August 2017

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15 August 2017

135

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15 August 2017

149-157

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15 August 2017

2

1 reference

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

15 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Translation initiation factor 4E inhibits differentiation of erythroid progenitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Shape and location of eukaryotic initiation factor eIF-2 on the 40S ribosomal subunit of rat liver. Immunoelectron-microscopic and hydrodynamic investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

A system for stable expression of short interfering RNAs in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Ribosomal protein S19 expression during erythroid differentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Diamond Blackfan anemia: A paradigm for a ribosome-based disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Expression, localization, and regulation of NOS in human mast cell lines: effects on leukotriene production

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Inhibition of HDM2 and activation of p53 by ribosomal protein L23

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

A Drosophila Minute gene encodes a ribosomal protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Regulation of HDM2 activity by the ribosomal protein L11

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Williams syndrome and related disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Two-phase culture in Diamond Blackfan anemia: localization of erythroid defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

The architecture of mammalian ribosomal protein promoters

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Regulation of cap-dependent translation by eIF4E inhibitory proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Mutations in the Drosophila gene encoding ribosomal protein S6 cause tissue overgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Proteomic snapshot analyses of preribosomal ribonucleoprotein complexes formed at various stages of ribosome biogenesis in yeast and mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Proliferation, but not growth, blocked by conditional deletion of 40S ribosomal protein S6

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Drosophila homolog of the human S6 ribosomal protein is required for tumor suppression in the hematopoietic system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

Ribosomal Protein L11 Negatively Regulates Oncoprotein MDM2 and Mediates a p53-Dependent Ribosomal-Stress Checkpoint Pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2141.2006.06268.X

10.1111/J.1365-2141.2006.06268.X

21 January 2018

Identifiers

DOI

1 reference

15 August 2017

1 reference

PubMed ID

16942586