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Article

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.

PloS one - 1 Jan 2015

Ge Jingping, Apicella Marisa, Mills Jason A, Garçon Loïc, French Deborah L, Weiss Mitchell J, Bessler Monica, Mason Philip J

Abstract excerpt

Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome with clinical features of red cell aplasia and variable developmental abnormalities. Most affected patients have heterozygous loss of function mutations in ribosomal protein genes but the pathogenic mechanism is still unknown. We generated induced pluripotent stem cells from DBA patients carrying RPS19 or RPL5 mutations. Transcriptome...

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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: 26258650
DOI: 10.1371/journal.pone.0134878
PMCID: PMC4530889

Genes

RPL5
RPS19
SERPINE1
BAMBI
GATA1
SMAD4
TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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