Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs.

Blood advances - 24 May 2022

Asimomitis Georgios, Deslauriers André G, Kotini Andriana G, Bernard Elsa, Esposito Davide, Olszewska Malgorzata, Spyrou Nikolaos, Arango Ossa Juan, Mortera-Blanco Teresa, Koche Richard, Nannya Yasuhito, Malcovati Luca, Ogawa Seishi, Cazzola Mario, Aaronson Stuart A, Hellström-Lindberg Eva, Papaemmanuil Elli, Papapetrou Eirini P

Abstract excerpt

SF3B1K700E is the most frequent mutation in myelodysplastic syndrome (MDS), but the mechanisms by which it drives MDS pathogenesis remain unclear. We derived a panel of 18 genetically matched SF3B1K700E- and SF3B1WT-induced pluripotent stem cell (iPSC) lines from patients with MDS with ring sideroblasts (MDS-RS) harboring isolated SF3B1K700E mutations and performed RNA and ATAC sequencing in purified CD34+/CD45+...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromatin
Share to Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myelodysplastic Syndromes

Share to Phosphoproteins

Share to RNA Splicing Factors

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 35042235
DOI: 10.1182/bloodadvances.2021006325
PMCID: PMC9131920

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Patient-specific MDS-RS iPSCs define the mis-spliced transcript repertoire and chromatin landscape of SF3B1-mutant HSPCs.PMID 35042235Read ↗

Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths.Semantic proximity Read ↗

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.Semantic proximity Read ↗

Single-cell multi-omics defines the cell-type specific impact of splicing aberrations in human hematopoietic clonal outgrowthsSemantic proximity Read ↗

SpliceUp: Predicting <i>SF3B1</i> mutations in individual cells via aberrant splice site activation from scRNA-seq dataSemantic proximity Read ↗

Distinct and convergent consequences of splice factor mutations in myelodysplastic syndromes.Semantic proximity Read ↗

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.Semantic proximity Read ↗

Erythroid differentiation intensifies RNA mis-splicing in <i>SF3B1</i> -mutant myelodysplastic syndromes with ring sideroblastsSemantic proximity Read ↗

Distinct splicing signatures affect converged pathways in myelodysplastic syndrome patients carrying mutations in different splicing regulators.Semantic proximity Read ↗

Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.Semantic proximity Read ↗

Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.Semantic proximity Read ↗

Distinct routes of clonal progression in SF3B1-mutant myelodysplastic syndromes.Semantic proximity Read ↗

<i>SF3B1</i> -mutant mis-splicing of <i>UBA1</i> confers a targetable therapeutic vulnerability through UBA1 inhibitionSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.