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

Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage

(2016) Samar Alsafadi et al.   Nature Communications

Aberrant splicing of genes involved in haemoglobin synthesis and impaired terminal erythroid maturation inSF3B1mutated refractory anaemia with ring sideroblasts

(2015) Simona Conte et al.   BRITISH JOURNAL OF HAEMATOLOGY

SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition

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Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo

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SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment

(2015) Syed A. Mian et al.   Nature Communications

Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes

(2015) Moritz Gerstung et al.   Nature Communications

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point

(2015) Rachel B. Darman et al.   Cell Reports

Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

(2015) Thomas McKerrell et al.   Cell Reports

Transcriptome Sequencing Reveals Potential Mechanism of Cryptic 3’ Splice Site Selection in SF3B1-mutated Cancers

(2015) Christopher DeBoever et al.   PLoS Computational Biology

A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages

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Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells

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Sailfish enables alignment-free isoform quantification from RNA-seq reads using lightweight algorithms

(2014) Rob Patro et al.   NATURE BIOTECHNOLOGY

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

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Clinical and biological implications of driver mutations in myelodysplastic syndromes

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Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo

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SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

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The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts

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Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms

(2011) L. Malcovati et al.   BLOOD

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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JAK2 V617F impairs hematopoietic stem cell function in a conditional knock-in mouse model of JAK2 V617F-positive essential thrombocythemia

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The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues: An overview with emphasis on the myeloid neoplasms

(2009) James W. Vardiman   CHEMICO-BIOLOGICAL INTERACTIONS

Agouti C57BL/6N embryonic stem cells for mouse genetic resources

(2009) Stephen J Pettitt et al.   NATURE METHODS

Myelodysplastic Syndromes

(2009) Ayalew Tefferi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Resolving the distinct stages in erythroid differentiation based on dynamic changes in membrane protein expression during erythropoiesis

(2009) K. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense?

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