Spliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesis

A dynamic intron retention program in the mammalian megakaryocyte and erythrocyte lineages

(2016) C. R. Edwards et al.   BLOOD

RNA Splicing

(2016) Maarten M.G. van den Hoogenhof et al.   CIRCULATION RESEARCH

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

(2016) Samar Alsafadi et al.   Nature Communications

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

(2015) Yeon Lee et al.   Annual Review of Biochemistry

SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts

(2015) L. Malcovati et al.   BLOOD

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

(2015) Eunhee Kim et al.   CANCER CELL

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

(2015) Cara Lunn Shirai et al.   CANCER CELL

SnapShot: Spliceosome Dynamics I

(2015) Markus C. Wahl et al.   CELL

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

Clonal Hematopoiesis and Blood-Cancer Risk

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis

(2015) Harold Pimentel et al.   NUCLEIC ACIDS RESEARCH

Disease-associated mutation inSRSF2misregulates splicing by altering RNA-binding affinities

(2015) Jian Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genomic functions of U2AF in constitutive and regulated splicing

(2015) Tongbin Wu et al.   RNA Biology

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome

(2015) Vikas Madan 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

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

(2015) Christopher DeBoever et al.   PLoS Computational Biology

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

(2015) M. Cazzola et al.   Hematology-American Society of Hematology Education Program

Regulation of gene expression through inefficient splicing of U12-type introns

(2015) Elina H Niemelä et al.   RNA Biology

Live and let die at TEMRA

(2014) F. Rieux-Laucat   BLOOD

Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia

(2014) C. Wang et al.   BLOOD

Acute myeloid leukemia ontogeny is defined by distinct somatic mutations

(2014) R. C. Lindsley et al.   BLOOD

U2AF1mutations alter splice site recognition in hematological malignancies

(2014) Janine O. Ilagan et al.   GENOME RESEARCH

Distinct iron architecture in SF3B1-mutant myelodysplastic syndrome patients is linked to an SLC25A37 splice variant with a retained intron

(2014) V Visconte et al.   LEUKEMIA

U2AF1 mutations alter sequence specificity of pre-mRNA binding and splicing

(2014) T Okeyo-Owuor et al.   LEUKEMIA

Haploinsufficiency of Sf3b1 leads to compromised stem cell function but not to myelodysplasia

(2014) M Matsunawa et al.   LEUKEMIA

Context-dependent control of alternative splicing by RNA-binding proteins

(2014) Xiang-Dong Fu et al.   NATURE REVIEWS GENETICS

MacroH2A1.1 and PARP-1 cooperate to regulate transcription by promoting CBP-mediated H2B acetylation

(2014) Hongshan Chen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Pan-Cancer Analysis of Transcriptome Changes Associated with Somatic Mutations in U2AF1 Reveals Commonly Altered Splicing Events

(2014) Angela N. Brooks et al.   PLoS One

Transcriptional diversity during lineage commitment of human blood progenitors

(2014) L. Chen et al.   SCIENCE

Patterns of missplicing due to somatic U2AF1 mutations in myeloid neoplasms

(2013) B. Przychodzen et al.   BLOOD

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Orchestrated Intron Retention Regulates Normal Granulocyte Differentiation

(2013) Justin J.-L. Wong et al.   CELL

Landscape of genetic lesions in 944 patients with myelodysplastic syndromes

(2013) T Haferlach et al.   LEUKEMIA

Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Alternative pre-mRNA splicing in neurons: growing up and extending its reach

(2013) Sika Zheng et al.   TRENDS IN GENETICS

SRSF2 mutations in 275 cases with chronic myelomonocytic leukemia (CMML)

(2012) M. Meggendorfer et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

Neuronal regulation of pre-mRNA splicing by polypyrimidine tract binding proteins, PTBP1 and PTBP2

(2012) Niroshika Keppetipola et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

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

(2012) M Nikpour et al.   LEUKEMIA

Splicing switch of an epigenetic regulator by RNA helicases promotes tumor-cell invasiveness

(2012) Etienne Dardenne et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Asyn-anticonformational difference allows SRSF2 to recognize guanines and cytosines equally well

(2011) Gerrit M Daubner et al.   EMBO JOURNAL

QKI-Mediated Alternative Splicing of the Histone Variant MacroH2A1 Regulates Cancer Cell Proliferation

(2011) L. Novikov et al.   MOLECULAR AND CELLULAR BIOLOGY

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

(2011) Timothy A Graubert et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

(2011) E. Papaemmanuil et al.   NEW ENGLAND JOURNAL OF MEDICINE

The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing

(2010) H. Shen et al.   GENES & DEVELOPMENT

Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

(2010) Hong Ye et al.   JOURNAL OF CLINICAL INVESTIGATION

RNA processing and its regulation: global insights into biological networks

(2009) Donny D. Licatalosi et al.   NATURE REVIEWS GENETICS

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

The Role of the Iron Transporter ABCB7 in Refractory Anemia with Ring Sideroblasts

(2008) Jacqueline Boultwood et al.   PLoS One