Recurrent SRSF2 mutations in MDS affect both splicing and NMD

PSI-Sigma: a comprehensive splicing-detection method for short-read and long-read RNA-seq analysis

(2019) Kuan-Ting Lin et al.   BIOINFORMATICS

Nonsense-mediated mRNA Decay and Cancer

(2018) Maximilian W Popp et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The Augmented R-Loop Is a Unifying Mechanism for Myelodysplastic Syndromes Induced by High-Risk Splicing Factor Mutations

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Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1

(2018) Isabel Aznarez et al.   Cell Reports

The Exon Junction Complex Undergoes a Compositional Switch that Alters mRNP Structure and Nonsense-Mediated mRNA Decay Activity

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Clinical Implications of Genetic Mutations in Myelodysplastic Syndrome

(2017) James A. Kennedy et al.   JOURNAL OF CLINICAL ONCOLOGY

Physiologic Expression of Sf3b1 K700E Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation

(2016) Esther A. Obeng et al.   CANCER CELL

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

(2015) Eunhee Kim et al.   CANCER CELL

SRSF2 Is Essential for Hematopoiesis, and Its Myelodysplastic Syndrome-Related Mutations Dysregulate Alternative Pre-mRNA Splicing

(2015) Yukiko Komeno et al.   MOLECULAR AND CELLULAR BIOLOGY

SRSF1-Regulated Alternative Splicing in Breast Cancer

(2015) Olga Anczuków et al.   MOLECULAR CELL

Antisense oligonucleotide–directed inhibition of nonsense-mediated mRNA decay

(2015) Tomoki T Nomakuchi et al.   NATURE BIOTECHNOLOGY

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

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

U2AF1mutations alter splice site recognition in hematological malignancies

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

Integrator Regulates Transcriptional Initiation and Pause Release following Activation

(2014) Alessandro Gardini et al.   MOLECULAR CELL

Clinical and biological implications of driver mutations in myelodysplastic syndromes

(2013) E. Papaemmanuil et al.   BLOOD

Making sense of nonsense

(2013) Matthias W Hentze et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

The Cellular EJC Interactome Reveals Higher-Order mRNP Structure and an EJC-SR Protein Nexus

(2012) Guramrit Singh et al.   CELL

Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1β via a noncanonical caspase-8 inflammasome

(2012) Sonja I Gringhuis et al.   NATURE IMMUNOLOGY

CLIP-seq of eIF4AIII reveals transcriptome-wide mapping of the human exon junction complex

(2012) Jérôme Saulière et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question

(2011) Jungwook Hwang et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

(2011) Gerrit M Daubner et al.   EMBO JOURNAL

RNA Homeostasis Governed by Cell Type-Specific and Branched Feedback Loops Acting on NMD

(2011) Lulu Huang et al.   MOLECULAR CELL

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

The Pioneer Round of Translation: Features and Functions

(2010) Lynne E. Maquat et al.   CELL

The exon junction complex differentially marks spliced junctions

(2010) Jérôme Saulière et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The exon-junction complex proteins, Y14 and MAGOH regulate STAT3 activation

(2009) Ryuta Muromoto et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Exon junction complex enhances translation of spliced mRNAs at multiple steps

(2009) Hyung Chul Lee et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

MEME SUITE: tools for motif discovery and searching

(2009) T. L. Bailey et al.   NUCLEIC ACIDS RESEARCH

The Hierarchy of Exon-Junction Complex Assembly by the Spliceosome Explains Key Features of Mammalian Nonsense-Mediated mRNA Decay

(2009) Niels H. Gehring et al.   PLOS BIOLOGY

Efficiency of the Pioneer Round of Translation Affects the Cellular Site of Nonsense-Mediated mRNA Decay

(2008) Hanae Sato et al.   MOLECULAR CELL