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Article

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

Blood - 8 Aug 2013

Garçon Loïc, Ge Jingping, Manjunath Shwetha H, Mills Jason A, Apicella Marisa, Parikh Shefali, Sullivan Lisa M, Podsakoff Gregory M, Gadue Paul, French Deborah L, Mason Philip J, Bessler Monica, Weiss Mitchell J

Abstract excerpt

Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins. Understanding how haploinsufficiency of these ubiquitous proteins causes DBA...

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Share to Anemia, Diamond-Blackfan
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23744582
DOI: 10.1182/blood-2013-01-478321
PMCID: PMC3739037

Genes

RPL5
RPS19

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23744582-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients.PMID 23744582Read ↗

Establishment and characterization of CSCRi006-A: an induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation.Semantic proximity Read ↗

Eltrombopag Improves Erythroid Differentiation in a Human Induced Pluripotent Stem Cell Model of Diamond Blackfan Anemia.Semantic proximity Read ↗

Establishment and characterization of CSCRi006-A: An induced pluripotent stem cell line generated from a patient with Diamond-Blackfan Anemia (DBA) carrying ribosomal protein S19 (RPS19) mutation.Semantic proximity Read ↗

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

Generation of iPSC lines and isogenic gene-corrected lines from two individuals with RPS19-mutated Diamond-Blackfan anemia syndrome.Semantic proximity Read ↗

RPS19 mutations in patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.Semantic proximity Read ↗

[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].Semantic proximity Read ↗

Molecular pathogenesis in Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and human erythroblasts.Semantic proximity Read ↗

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.Semantic proximity Read ↗

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Semantic proximity Read ↗

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