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

Genome-wide discovery of human splicing branchpoints

(2015) Tim R. Mercer et al.   GENOME RESEARCH

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

SF3B1mutations constitute a novel therapeutic target in breast cancer

(2014) Sarah L Maguire et al.   JOURNAL OF PATHOLOGY

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

(2014) D Gentien et al.   LEUKEMIA

Rare SF3B1 R625 mutations in cutaneous melanoma

(2014) Yong Kong et al.   MELANOMA RESEARCH

Establishment of novel cell lines recapitulating the genetic landscape of uveal melanoma and preclinical validation of mTOR as a therapeutic target

(2014) Nabil Amirouchene-Angelozzi et al.   Molecular Oncology

Mechanisms for U2AF to define 3′ splice sites and regulate alternative splicing in the human genome

(2014) Changwei Shao et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3

(2013) Marcel Martin et al.   NATURE GENETICS

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma

(2013) J William Harbour et al.   NATURE GENETICS

SF3B1 Mutations Are Associated with Alternative Splicing in Uveal Melanoma

(2013) S. J. Furney et al.   Cancer Discovery

Misregulation of Pre-mRNA Alternative Splicing in Cancer

(2013) J. Zhang et al.   Cancer Discovery

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

The spliceosome as a target of novel antitumour drugs

(2012) Sophie Bonnal et al.   NATURE REVIEWS DRUG DISCOVERY

Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A

(2011) A. Corrionero et al.   GENES & DEVELOPMENT

Perturbation of U2AF65/NXF1-mediated RNA nuclear export enhances RNA toxicity in polyQ diseases

(2011) Ho Tsoi et al.   HUMAN MOLECULAR GENETICS

Frequent pathway mutations of splicing machinery in myelodysplasia

(2011) Kenichi Yoshida et al.   NATURE

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia

(2011) Víctor Quesada et al.   NATURE GENETICS

SF3B1and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

(2011) Lili Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-Wide Association between Branch Point Properties and Alternative Splicing

(2010) André Corvelo et al.   PLoS Computational Biology

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH