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

Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.

Blood - 31 Mar 2022

Clough Courtnee A, Pangallo Joseph, Sarchi Martina, Ilagan Janine O, North Khrystyna, Bergantinos Rochelle, Stolla Massiel C, Naru Jasmine, Nugent Patrick, Kim Eunhee, Stirewalt Derek L, Subramaniam Arvind R, Abdel-Wahab Omar, Abkowitz Janis L, Bradley Robert K, Doulatov Sergei

Abstract excerpt

SF3B1 splicing factor mutations are near-universally found in myelodysplastic syndromes (MDS) with ring sideroblasts (RS), a clonal hematopoietic disorder characterized by abnormal erythroid cells with iron-loaded mitochondria. Despite this remarkably strong genotype-to-phenotype correlation, the mechanism by which mutant SF3B1 dysregulates iron metabolism to cause RS remains unclear due to an absence of...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Flavoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Membrane Transport Proteins

Share to Mitochondrial Proteins

Share to Myelodysplastic Syndromes

Share to Phosphoproteins

Share to Protoporphyrinogen Oxidase

Share to RNA Splicing Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 34861039
DOI: 10.1182/blood.2021012652
PMCID: PMC8972092

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

Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.PMID 34861039Read ↗

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.Semantic proximity Read ↗

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome.Semantic proximity Read ↗

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

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

Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromesSemantic proximity Read ↗

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes.Semantic proximity Read ↗

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblastsSemantic proximity Read ↗

Somatic Mutation of SF3B1, a Gene Encoding a Core Component of RNA Splicing Machinery, in Myelodysplasia with Ring SideroblastsSemantic proximity Read ↗

Hemopoietic-specific Sf3b1-K700E knock-in mice display the splicing defect seen in human MDS but develop anemia without ring sideroblasts.Semantic proximity Read ↗

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromesSemantic proximity Read ↗

Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1 -Mutant Myelodysplastic Syndromes With Ringed SideroblastsSemantic proximity Read ↗

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

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