Cargando…

SF3B1 mutant-induced missplicing of MAP3K7 causes anemia in myelodysplastic syndromes

SF3B1 is the most frequently mutated RNA splicing factor in cancer, including in ∼25% of myelodysplastic syndromes (MDS) patients. SF3B1-mutated MDS, which is strongly associated with ringed sideroblast morphology, is characterized by ineffective erythropoiesis, leading to severe, often fatal anemia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lieu, Yen K., Liu, Zhaoqi, Ali, Abdullah M., Wei, Xin, Penson, Alex, Zhang, Jian, An, Xiuli, Rabadan, Raul, Raza, Azra, Manley, James L., Mukherjee, Siddhartha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	National Academy of Sciences 2021
Materias:	Biological Sciences
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8740767/ https://www.ncbi.nlm.nih.gov/pubmed/34930825 http://dx.doi.org/10.1073/pnas.2111703119

Ejemplares similares

DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer
por: Zhang, Jian, et al.
Publicado: (2022)

Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome
por: Clough, Courtnee A., et al.
Publicado: (2022)

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts
por: Choi, In Young, et al.
Publicado: (2023)

The biology of myelodysplastic syndromes: unity despite heterogeneity
por: Raza, Azra, et al.
Publicado: (2010)

Mutation in SF3B1 gene promotes formation of polyploid giant cells in Leukemia cells
por: Mukherjee, Sanjay, et al.
Publicado: (2022)

SF3B1-mutant myelodysplastic syndrome/myeloproliferative neoplasms: a unique molecular and prognostic entity
por: Mangaonkar, Abhishek A., et al.
Publicado: (2022)

PRPF8 Defects Cause Missplicing in Myeloid Malignancies
por: Kurtovic-Kozaric, Amina, et al.
Publicado: (2014)

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms
por: Malcovati, Luca, et al.
Publicado: (2011)

How mRNA is misspliced in acute myelogenous leukemia (AML)?
por: Mohamed, Aminetou Mint, et al.
Publicado: (2014)

Two different “tales” of ATG7: Clinical relevance to myelodysplastic syndromes
por: Ali, Abdullah M., et al.
Publicado: (2016)

The Frequency of SF3B1 Mutations in Thai Patients with Myelodysplastic Syndrome
por: Rujirachaivej, Punchita, et al.
Publicado: (2018)

Canine Brachycephaly Is Associated with a Retrotransposon-Mediated Missplicing of SMOC2
por: Marchant, Thomas W., et al.
Publicado: (2017)

Altered splicing and cytoplasmic levels of tRNA synthetases in SF3B1-mutant myelodysplastic syndromes as a therapeutic vulnerability
por: Liberante, Fabio Giuseppe, et al.
Publicado: (2019)

Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)‐mutant myelodysplastic syndromes subtype
por: Duetz, Carolien, et al.
Publicado: (2021)

Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes
por: Dolatshad, H, et al.
Publicado: (2016)

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal Dystrophy
por: Du, Jintang, et al.
Publicado: (2015)

Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing
por: Hernández-Hernández, Oscar, et al.
Publicado: (2013)

Mutant SF3B1 promotes malignancy in PDAC
por: Simmler, Patrik, et al.
Publicado: (2023)

A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis
por: Lazo-Langner, Alejandro, et al.
Publicado: (2019)

SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeast
por: Carrocci, Tucker J., et al.
Publicado: (2017)

Activation of targetable inflammatory immune signaling is seen in myelodysplastic syndromes with SF3B1 mutations
por: Choudhary, Gaurav S, et al.
Publicado: (2022)

A Novel Prognostic Scoring Model for Myelodysplastic Syndrome Patients With SF3B1 Mutation
por: Ma, Liya, et al.
Publicado: (2022)

Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts
por: Adema, Vera, et al.
Publicado: (2022)

Alteration of SF3B1 and SRSF2 Genes in Myelodysplastic Syndromes Patients in Upper Northern Thailand
por: Yimpak, Phuttirak, et al.
Publicado: (2019)

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome
por: Ochi, Tetsuro, et al.
Publicado: (2022)

SF3B1 mutations in myelodysplastic syndromes: A potential therapeutic target for modulating the entire disease process
por: Jiang, Moqin, et al.
Publicado: (2023)

PB2017: CLINICAL OUTCOMES BY SF3B1 MUTATION STATUS IN PATIENTS WITH LOWER-RISK MYELODYSPLASTIC SYNDROMES RETREATED WITH ERYTHROPOIESIS-STIMULATING AGENTS
por: Garcia-Manero, Guillermo, et al.
Publicado: (2023)

Circulating cancer giant cells with unique characteristics frequently found in patients with myelodysplastic syndromes (MDS)
por: Ali, Abdullah Mahmood, et al.
Publicado: (2023)

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
por: Polymenidou, Magdalini, et al.
Publicado: (2011)

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
por: Maharaj, Avinaash, et al.
Publicado: (2018)

Splicing factor SF3B1 mutations and ring sideroblasts in myelodysplastic syndromes: a Brazilian cohort screening study
por: Donaires, Flávia Sacilotto, et al.
Publicado: (2016)

U2 snRNA structure is influenced by SF3A and SF3B proteins but not by SF3B inhibitors
por: Urabe, Veronica K., et al.
Publicado: (2021)

Prognostic interaction between bone marrow morphology and SF3B1 and ASXL1 mutations in myelodysplastic syndromes with ring sideroblasts
por: Mangaonkar, Abhishek A., et al.
Publicado: (2018)

Detection of SF3B1 p.Lys700Glu Mutation by PNA-PCR Clamping in Myelodysplastic Syndromes and Myeloproliferative Neoplasms
por: Petiti, Jessica, et al.
Publicado: (2022)

P1035: RING SIDEROBLASTS <15% WAS AN INDEPENDENT RISK FACTOR FOR MYELODYSPLASTIC/MYELOPROLIFERATIVE NEOPLASM WITH SF3B1 MUTATION AND THROMBOCYTOSIS
por: LI, Fuhui, et al.
Publicado: (2023)

Megaloblastic Anemia with Ring Sideroblasts is not Always Myelodysplastic Syndrome
por: Narang, Neha Chopra, et al.
Publicado: (2016)

Pernicious anemia: a myelodysplastic syndrome look-alike
por: Kesbeh, Yazeed, et al.
Publicado: (2019)

Splicing factor 3b subunit 1 (Sf3b1) haploinsufficient mice display features of low risk Myelodysplastic syndromes with ring sideroblasts
por: Visconte, Valeria, et al.
Publicado: (2014)

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome
por: Torrado, Mario, et al.
Publicado: (2018)

TNNT2 Missplicing in Skeletal Muscle as a Cardiac Biomarker in Myotonic Dystrophy Type 1 but Not in Myotonic Dystrophy Type 2
por: Bosè, Francesca, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_p0iob23u2j6h27hiuginq587ac