The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders (Q34358020)

1 August 2017

title

The emerging importance of ribosomal dysfunction in the pathogenesis of hematologic disorders (English)

1 reference

1 August 2017

David M Raiser

1

1 reference

1 August 2017

Anupama Narla

series ordinal

2

1 reference

1 August 2017

Benjamin L Ebert

series ordinal

3

1 reference

1 August 2017

publication date

28 August 2013

1 reference

1 August 2017

1 reference

1 August 2017

volume

55

1 reference

1 August 2017

issue

3

1 reference

1 August 2017

page(s)

491-500

1 reference

ANAEMIA OF INFANCY AND EARLY CHILDHOOD

1 August 2017

cites work

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

How I treat Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Translational medicine: ribosomopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Diamond Blackfan anemia: ribosomal proteins going rogue.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Impaired ribosome biogenesis in Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Distinct haematological disorder with deletion of long arm of no. 5 chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Molecular dissection of the 5q deletion in myelodysplastic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The World Health Organization (WHO) classification of the myeloid neoplasms

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

A randomized phase 3 study of lenalidomide versus placebo in RBC transfusion-dependent patients with Low-/Intermediate-1-risk myelodysplastic syndromes with del5q

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Pomalidomide and lenalidomide regulate erythropoiesis and fetal hemoglobin production in human CD34 cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Dexamethasone and lenalidomide have distinct functional effects on erythropoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Haploinsufficiency of EGR1, a candidate gene in the del(5q), leads to the development of myeloid disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The transcription factor EGR1 controls both the proliferation and localization of hematopoietic stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Identification of miR-145 and miR-146a as mediators of the 5q- syndrome phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosomal dysfunction and inherited marrow failure

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mutations in SBDS are associated with Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Defective ribosome assembly in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

SBDS expression and localization at the mitotic spindle in human myeloid progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Dyskeratosis congenita: its link to telomerase and aplastic anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The genetics of dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The molecular basis of the cartilage-hair hypoplasia–anauxetic dysplasia spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

RMRP mutations in cartilage-hair hypoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Overexpression of B-type cyclins alters chromosomal segregation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Treacher Collins syndrome: unmasking the role of Tcof1/treacle

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Progress towards mechanism-based treatment for Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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/10.3109/10428194.2013.812786

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/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Gene therapy of Diamond Blackfan anemia CD34( ) cells leads to improved erythroid development and engraftment following transplantation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Diamond blackfan anemia stem cells fail to repopulate erythropoiesis in NOD/SCID mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

https://api.crossref.org/works/10.3109/10428194.2013.812786

Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Loss of ribosomal protein L11 affects zebrafish embryonic development through a p53-dependent apoptotic response

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Identification of 315 genes essential for early zebrafish development

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Insertional mutagenesis in zebrafish rapidly identifies genes essential for early vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Many ribosomal protein genes are cancer genes in zebrafish

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Cancer in dyskeratosis congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Deletion 5q in myelodysplastic syndrome: a paradigm for the study of hemizygous deletions in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ablation of ribosomal protein L22 selectively impairs alphabeta T cell development by activation of a p53-dependent checkpoint

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

The p53 tumor suppressor causes congenital malformations in Rpl24-deficient mice and promotes their survival.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q- syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

A pathogenic dyskerin mutation impairs proliferation and activates a DNA damage response independent of telomere length in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosome-Mediated Specificity in Hox mRNA Translation and Vertebrate Tissue Patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Ribosomal protein L24 defect in belly spot and tail (Bst), a mouse Minute

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Inactivation of S6 ribosomal protein gene in T lymphocytes activates a p53-dependent checkpoint response.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

https://api.crossref.org/works/10.3109/10428194.2013.812786

A zebrafish model of dyskeratosis congenita reveals hematopoietic stem cell formation failure resulting from ribosomal protein-mediated p53 stabilization.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Identification of ribosomal protein S25 (RPS25)-MDM2-p53 regulatory feedback loop.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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/10.3109/10428194.2013.812786

Ribosomal protein S14 unties the MDM2-p53 loop upon ribosomal stress

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

An ARF-Independent c-MYC-Activated Tumor Suppression Pathway Mediated by Ribosomal Protein-Mdm2 Interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Identification of a human heme exporter that is essential for erythropoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Risk factors for reduced areal bone mineral density in young adults with stem cell transplantation in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Structural Consequences of Nucleophosmin Mutations in Acute Myeloid Leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Nucleophosmin: a versatile molecule associated with hematological malignancies.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Prognostic relevance of integrated genetic profiling in acute myeloid leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Role of nucleophosmin in embryonic development and tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Inactivation of ribosomal protein L22 promotes transformation by induction of the stemness factor, Lin28B.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

Does the ribosome translate cancer?

21 January 2018

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

21 January 2018

Dyskeratosis congenita

1 reference

https://api.crossref.org/works/10.3109/10428194.2013.812786

10.3109/10428194.2013.812786

21 January 2018

Identifiers

DOI

1 reference

1 August 2017

1 reference