Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.

scientific article published on 06 June 2013

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1182/BLOOD-2013-01-478321
P932PMC publication ID3739037
P698PubMed publication ID23744582
P5875ResearchGate publication ID237070819

P50authorMitchell J WeissQ57032299
P2093author name stringJingping Ge
Deborah L French
Paul Gadue
Shefali Parikh
Monica Bessler
Philip J Mason
Lisa M Sullivan
Jason A Mills
Loïc Garçon
Gregory M Podsakoff
Shwetha H Manjunath
Marisa Apicella
P2860cites workHuman RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunitsQ24304155
Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosomeQ24306589
Impaired ribosome biogenesis in Diamond-Blackfan anemiaQ24307762
Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.Q24309380
The role of human ribosomal proteins in the maturation of rRNA and ribosome productionQ24322949
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsQ24643416
Induction of pluripotent stem cells from adult human fibroblasts by defined factorsQ27860967
In vivo genome editing restores haemostasis in a mouse model of haemophiliaQ28241725
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateQ28296164
Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleasesQ29622846
Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.Q30489278
Clinical and laboratory evidence for a trilineage haematopoietic defect in patients with refractory Diamond-Blackfan anaemiaQ33331340
Hematopoietic and endothelial differentiation of human induced pluripotent stem cellsQ34099344
Characterization of a novel association between two trypanosome-specific proteins and 5S rRNA.Q34130933
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemiaQ34223265
A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemiaQ34282262
Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.Q34431302
Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cellsQ34707415
Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targetingQ35030912
Fetal Diamond-Blackfan anemia associated with hydrops fetalisQ35600116
Leukosialin (CD43) defines hematopoietic progenitors in human embryonic stem cell differentiation culturesQ35849083
Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.Q36121754
Expression of ribosomal protein genes cloned in a hybrid plasmid in Escherichia coli: gene dosage effects on synthesis of ribosomal proteins and ribosomal protein messenger ribonucleic acidQ36337168
Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cellsQ36378400
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantationQ37424374
p53: Guardian of reprogrammingQ37800333
Diamond Blackfan anemia: ribosomal proteins going rogue.Q37857418
Diamond Blackfan anemiaQ37967332
Suprainduction of p53 by disruption of 40S and 60S ribosome biogenesis leads to the activation of a novel G2/M checkpoint.Q39347844
Robust, persistent transgene expression in human embryonic stem cells is achieved with AAVS1-targeted integrationQ40048821
Development of the hemangioblast defines the onset of hematopoiesis in human ES cell differentiation culturesQ40200355
Pathogenesis of the erythroid failure in Diamond Blackfan anaemiaQ40436169
Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.Q40475890
Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemiaQ40496380
The accumulation of three yeast ribosomal proteins under conditions of excess mRNA is determined primarily by fast protein decayQ40648444
Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient diamond-Blackfan anemia improves following RPS19 gene transferQ40651706
An intrinsic progenitor defect in Diamond-Blackfan anaemiaQ41807803
Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activationQ42572950
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein familyQ43692423
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutationsQ45072261
Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.Q45879795
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemiaQ46392375
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemiaQ46463636
Cells depleted for RPS19, a protein associated with Diamond Blackfan Anemia, show defects in 18S ribosomal RNA synthesis and small ribosomal subunit production.Q50701618
Translational efficiency in patients with Diamond-Blackfan anemia.Q50716094
Ataxia-telangiectasia mutated (ATM) deficiency decreases reprogramming efficiency and leads to genomic instability in iPS cells.Q53262677
Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitorsQ57013378
Age‐related alterations in erythroid and granulopoietic progenitors in Diamond‐Blackfan anaemiaQ71654194
Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosisQ72749884
P433issue6
P407language of work or nameEnglishQ1860
P304page(s)912-921
P577publication date2013-06-06
P1433published inBloodQ885070
P1476titleRibosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients
P478volume122

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cites work (P2860)
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Q35741406Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.
Q36290454Efficient Recombinase-Mediated Cassette Exchange in hPSCs to Study the Hepatocyte Lineage Reveals AAVS1 Locus-Mediated Transgene Inhibition
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Q89603279Emerging patent landscape for non-viral vectors used for gene therapy
Q38592859From Genomics to Gene Therapy: Induced Pluripotent Stem Cells Meet Genome Editing
Q90744990Gene editing of PKLR gene in human hematopoietic progenitors through 5' and 3' UTR modified TALEN mRNA
Q90706174Guide snoRNAs: Drivers or Passengers in Human Disease?
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Q28078535Regulatory Roles of Rpl22 in Hematopoiesis: An Old Dog with New Tricks
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Q35951882Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia
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Q35099802p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5.

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