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

doi:10.1182/bloodadvances.2023011260

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

Community

Back to search

Article

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

Blood advances - 13 Aug 2024

Choi In Young, Ling Jonathan P, Zhang Jian, Helmenstine Eric, Walter Wencke, Tsakiroglou Panagiotis, Bergman Riley E, Philippe Céline, Manley James L, Rouault-Pierre Kevin, Li Bing, Wiseman Daniel H, Batta Kiran, Ouseph Madhu, Bernard Elsa, Dubner Benjamin, Li Xiao, Haferlach Torsten, Koget Anna, Fazal Salman, Jain Tania, Gocke Christopher D, DeZern Amy E, Dalton William Brian

Abstract excerpt

ABSTRACT: Among the most common genetic alterations in myelodysplastic syndromes (MDS) are mutations in the spliceosome gene SF3B1. Such mutations induce specific RNA missplicing events, directly promote ring sideroblast (RS) formation, and generally associate with a more favorable prognosis. However, not all SF3B1 mutations are the same, and little is known about how distinct hotspots influence disease. Here, we...

Read the complete abstract on PubMed

Topics

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

Share to Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anemia, Sideroblastic

Share to Mutation

Share to Myelodysplastic Syndromes

Share to Phosphoproteins

Share to Prognosis

Share to RNA Splicing

Share to RNA Splicing Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 38759096
DOI: 10.1182/bloodadvances.2023011260
PMCID: PMC11331715

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.PMID 38759096Read ↗

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

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

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

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

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

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.Semantic proximity Read ↗

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes.Semantic proximity Read ↗

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

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

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.Semantic proximity Read ↗

Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemiaSemantic proximity Read ↗

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