(Q38047020)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

author name string

Marieke von Lindern

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

language of work or name

English

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publication date

27 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Haematology

9 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

159

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

514-527

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23016900%20AND%20SRC:MED&resulttype=core&format=json

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

9 March 2020

cites work

1 reference

21 January 2018

Diamond Blackfan anemia

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The glucocorticoid receptor is required for stress erythropoiesis

21 January 2018

1 reference

The structure of the eukaryotic ribosome at 3.0 Å resolution

21 January 2018

1 reference

The small-subunit processome is a ribosome assembly intermediate

21 January 2018

1 reference

Translation initiation factor 4E inhibits differentiation of erythroid progenitors.

21 January 2018

1 reference

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment

21 January 2018

1 reference

Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.

21 January 2018

1 reference

Insights into RNA biology from an atlas of mammalian mRNA-binding proteins

21 January 2018

1 reference

Impaired ribosome biogenesis in Diamond-Blackfan anemia

21 January 2018

1 reference

Human phenotypes associated with GATA-1 mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ribosomal protein L11 mutation in zebrafish leads to haematopoietic and metabolic defects

21 January 2018

1 reference

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

21 January 2018

1 reference

Ribosome biogenesis surveillance: probing the ribosomal protein-Mdm2-p53 pathway.

21 January 2018

1 reference

The Ribosomal Protein-Mdm2-p53 Pathway and Energy Metabolism: Bridging the Gap between Feast and Famine

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Control of cell size through phosphorylation of upstream binding factor 1 by nuclear phosphatidylinositol 3-kinase

21 January 2018

1 reference

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

21 January 2018

1 reference

Thalidomide down-regulates transcript levels of GC-rich promoter genes in multiple myeloma

21 January 2018

1 reference

The RNA polymerase I transcription machinery: an emerging target for the treatment of cancer

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

21 January 2018

1 reference

21 January 2018

1 reference

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Mammalian target of rapamycin (mTOR): conducting the cellular signaling symphony

21 January 2018

1 reference

Ribosome assembly in eukaryotes

21 January 2018

1 reference

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

21 January 2018

1 reference

Eukaryotic initiation factor 6 is rate-limiting in translation, growth and transformation

21 January 2018

1 reference

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

21 January 2018

1 reference

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

21 January 2018

1 reference

Defective ribosomal protein gene expression alters transcription, translation, apoptosis, and oncogenic pathways in Diamond-Blackfan anemia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Bag1 is essential for differentiation and survival of hematopoietic and neuronal cells

21 January 2018

1 reference

Identification of protein binding sites on U3 snoRNA and pre-rRNA by UV cross-linking and high-throughput analysis of cDNAs

21 January 2018

1 reference

Igbp1 is part of a positive feedback loop in stem cell factor-dependent, selective mRNA translation initiation inhibiting erythroid differentiation.

21 January 2018

1 reference

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

21 January 2018

1 reference

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency

21 January 2018

1 reference

Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies.

21 January 2018

1 reference

Leucyl-tRNA synthetase is an intracellular leucine sensor for the mTORC1-signaling pathway

21 January 2018

1 reference

Signaling to the ribosome in cancer--It is more than just mTORC1.

21 January 2018

1 reference

Two to tango: regulation of Mammalian iron metabolism

21 January 2018

1 reference

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts

21 January 2018

1 reference

Growth-promoting properties of Epstein-Barr virus EBER-1 RNA correlate with ribosomal protein L22 binding

21 January 2018

1 reference

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

21 January 2018

1 reference

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

21 January 2018

1 reference

Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia

21 January 2018

1 reference

rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.

21 January 2018

1 reference

Myelodysplastic syndromes: biology and treatment

21 January 2018

1 reference

Reduced expression of ribosomal proteins relieves microRNA-mediated repression.

21 January 2018

1 reference

L13a blocks 48S assembly: role of a general initiation factor in mRNA-specific translational control

21 January 2018

1 reference

The effect of thrombopoietin on erythroid progenitors in Diamond-Blackfan anemia

21 January 2018

1 reference

A heme export protein is required for red blood cell differentiation and iron homeostasis

21 January 2018

1 reference

Establishing Rps6 hemizygous mice as a model for studying how ribosomal protein haploinsufficiency impairs erythropoiesis

21 January 2018

1 reference

Dyskeratosis congenita: a genetic disorder of many faces

21 January 2018

1 reference

Cooperative signaling between cytokine receptors and the glucocorticoid receptor in the expansion of erythroid progenitors: molecular analysis by expression profiling

21 January 2018

1 reference

Cellular IRES-mediated translation: the war of ITAFs in pathophysiological states.

21 January 2018

1 reference

Ribosome-mediated specificity in Hox mRNA translation and vertebrate tissue patterning

21 January 2018

1 reference

The ribosome as a platform for co-translational processing, folding and targeting of newly synthesized proteins

21 January 2018

1 reference

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

21 January 2018

1 reference

Many ribosomal protein mutations are associated with growth impairment and tumor predisposition in zebrafish

21 January 2018

1 reference

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

21 January 2018

1 reference

Haem-regulated eIF2alpha kinase is necessary for adaptive gene expression in erythroid precursors under the stress of iron deficiency.

21 January 2018

1 reference

Loss of p53 synthesis in zebrafish tumors with ribosomal protein gene mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Lenalidomide induces cell death in an MDS-derived cell line with deletion of chromosome 5q by inhibition of cytokinesis

21 January 2018

1 reference

Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control

21 January 2018

1 reference

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast

21 January 2018

1 reference

In vitro mass production of human erythroid cells from the blood of normal donors and of thalassemic patients

21 January 2018

1 reference

Eukaryotic cold shock domain proteins: highly versatile regulators of gene expression

21 January 2018

1 reference

A telomerase component is defective in the human disease dyskeratosis congenita

21 January 2018

1 reference

The GAIT system: a gatekeeper of inflammatory gene expression.

21 January 2018

1 reference

Ribosomopathies: human disorders of ribosome dysfunction

21 January 2018

1 reference

Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis

21 January 2018

1 reference

Erythroid Precursors in Congenital Hypoplastic (Diamond-Blackfan) Anemia

21 January 2018

1 reference

The human glucocorticoid receptor: molecular basis of biologic function

21 January 2018

1 reference

STAT5 as a molecular regulator of proliferation, differentiation and apoptosis in hematopoietic cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Polypyrimidine tract-binding protein regulates the cell cycle through IRES-dependent translation of CDK11(p58) in mouse embryonic stem cells.

21 January 2018

1 reference

L-Leucine improves the anemia and developmental defects associated with Diamond-Blackfan anemia and del(5q) MDS by activating the mTOR pathway.

21 January 2018

1 reference

Glucocorticoid receptor transcriptional activity determined by spacing of receptor and nonreceptor DNA sites

21 January 2018

1 reference

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

21 January 2018

1 reference

Crystal structure of the eukaryotic 40S ribosomal subunit in complex with initiation factor 1

21 January 2018

1 reference

Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis

21 January 2018

1 reference

The role of human ribosomal proteins in the maturation of rRNA and ribosome production

21 January 2018

1 reference

Ribosomal protein S6 phosphorylation is a determinant of cell size and glucose homeostasis

21 January 2018

1 reference

The role of UBF in regulating the structure and dynamics of transcriptionally active rDNA chromatin

21 January 2018

1 reference

UBF levels determine the number of active ribosomal RNA genes in mammals

21 January 2018

1 reference

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

21 January 2018

1 reference

A role for hnRNP C1/C2 and Unr in internal initiation of translation during mitosis

21 January 2018

1 reference

Global quantification of mammalian gene expression control

21 January 2018

1 reference

Structural roles for human translation factor eIF3 in initiation of protein synthesis

21 January 2018

1 reference

Interaction between the glucocorticoid and erythropoietin receptors in human erythroid cells

21 January 2018

1 reference

Targeted disruption of Zfp36l2, encoding a CCCH tandem zinc finger RNA-binding protein, results in defective hematopoiesis

21 January 2018

1 reference

Evidence for involvement of NFBP in processing of ribosomal RNA.

21 January 2018

1 reference

5 S rRNA: structure and interactions

21 January 2018

1 reference

Modeling Diamond Blackfan anemia in the zebrafish

21 January 2018

1 reference

Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia

21 January 2018

1 reference

Increased frequency of the glucocorticoid receptor A3669G (rs6198) polymorphism in patients with Diamond-Blackfan anemia.

21 January 2018

1 reference

The dominant negative β isoform of the glucocorticoid receptor is uniquely expressed in erythroid cells expanded from polycythemia vera patients

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.

21 January 2018

1 reference

Role of S6 phosphorylation and S6 kinase in cell growth

21 January 2018

1 reference

A critical review of the molecular pathophysiology of lenalidomide sensitivity in 5q - myelodysplastic syndromes

21 January 2018

1 reference

How common are extraribosomal functions of ribosomal proteins?

21 January 2018

1 reference

A critical role for phosphatase haplodeficiency in the selective suppression of deletion 5q MDS by lenalidomide

21 January 2018

1 reference

Lenalidomide promotes p53 degradation by inhibiting MDM2 auto-ubiquitination in myelodysplastic syndrome with chromosome 5q deletion

21 January 2018

1 reference

The glucocorticoid receptor is a key regulator of the decision between self-renewal and differentiation in erythroid progenitors

21 January 2018

1 reference

21 January 2018

Diamond-Blackfan anemia

1 reference

Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.

21 January 2018

1 reference

Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

21 January 2018

1 reference

Molecular origins for the dominant negative function of human glucocorticoid receptor beta

21 January 2018

1 reference

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

21 January 2018

1 reference

Assembly factors Rpf2 and Rrs1 recruit 5S rRNA and ribosomal proteins rpL5 and rpL11 into nascent ribosomes

21 January 2018

1 reference

ERK-dependent phosphorylation of the transcription initiation factor TIF-IA is required for RNA polymerase I transcription and cell growth.

21 January 2018

1 reference