Acquired Mutations That Affect Pre-mRNA Splicing in Hematologic Malignancies and Solid Tumors

Chemical Perturbation of Mcl-1 Pre-mRNA Splicing to Induce Apoptosis in Cancer Cells

(2013) Yang Gao et al.   ACS Chemical Biology

TP53, SF3B1, and NOTCH1 mutations and outcome of allotransplantation for chronic lymphocytic leukemia: six-year follow-up of the GCLLSG CLL3X trial

(2013) P. Dreger et al.   BLOOD

Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia

(2013) Dan A. Landau et al.   CELL

Regulation of splicing by SR proteins and SR protein-specific kinases

(2013) Zhihong Zhou et al.   CHROMOSOMA

Lack of SF3B1 R625 mutations in cutaneous melanoma

(2013) Bastian Schilling et al.   Diagnostic Pathology

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

(2013) J William Harbour et al.   NATURE GENETICS

Spliceosome mutations involvingSRSF2,SF3B1, andU2AF35in chronic myelomonocytic leukemia: Prevalence, clinical correlates, and prognostic relevance

(2012) Mrinal M. Patnaik et al.   AMERICAN JOURNAL OF HEMATOLOGY

Functional roles of protein splicing factors

(2012) Hsin‑Chou Chen et al.   BIOSCIENCE REPORTS

Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes

(2012) F. Thol et al.   BLOOD

SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes

(2012) V. Visconte et al.   BLOOD

The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution

(2012) S.-J. Wu et al.   BLOOD

SRSF2 mutations in primary myelofibrosis: significant clustering with IDH mutations and independent association with inferior overall and leukemia-free survival

(2012) T. L. Lasho et al.   BLOOD

Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis

(2012) H. Makishima et al.   BLOOD

The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial

(2012) D. G. Oscier et al.   BLOOD

Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML

(2012) S. Hirabayashi et al.   BLOOD

Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing

(2012) Marcin Imielinski et al.   CELL

Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia

(2012) S. A. Kar et al.   HAEMATOLOGICA

Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients

(2012) C. Santamaria et al.   HAEMATOLOGICA

The zebrafish sf3b1b460mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development

(2012) Min An et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Whole-genome analysis informs breast cancer response to aromatase inhibition

(2012) Matthew J. Ellis et al.   NATURE

Sequence analysis of mutations and translocations across breast cancer subtypes

(2012) Shantanu Banerji et al.   NATURE

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

Comprehensive molecular portraits of human breast tumours

(2012) Daniel C. Koboldt et al.   NATURE

Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes

(2012) Jan J. Molenaar et al.   NATURE

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

(2012) Michael Krauthammer et al.   NATURE GENETICS

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

The spliceosome as a target of novel antitumour drugs

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

Chronic Lymphocytic Leukemia withSF3B1Mutation

(2012) Victor Quesada et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia: association with progression and fludarabine-refractoriness

(2011) D. Rossi et al.   BLOOD

Crebbp haploinsufficiency in mice alters the bone marrow microenvironment, leading to loss of stem cells and excessive myelopoiesis

(2011) S. N. Zimmer et al.   BLOOD

Mice heterozygous for CREB binding protein are hypersensitive to γ-radiation and invariably develop myelodysplastic/myeloproliferative neoplasm

(2011) Stephanie N. Zimmer et al.   EXPERIMENTAL HEMATOLOGY

Biological validation that SF3b is a target of the antitumor macrolide pladienolide

(2011) Akira Yokoi et al.   FEBS Journal

CREBBP mutations in relapsed acute lymphoblastic leukaemia

(2011) Charles G. Mullighan et al.   NATURE

Inactivating mutations of acetyltransferase genes in B-cell lymphoma

(2011) Laura Pasqualucci et al.   NATURE

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

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

(2011) Víctor Quesada et al.   NATURE GENETICS

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

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

SF3B1and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia

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

Inactivation of a Single Copy of Crebbp Selectively Alters Pre-mRNA Processing in Mouse Hematopoietic Stem Cells

(2011) Madeleine E. Lemieux et al.   PLoS One

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

(2010) Marc H. G. P. Raaijmakers et al.   NATURE

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia

(2010) Michael G Kharas et al.   NATURE MEDICINE

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

MicroRNA miR-125a controls hematopoietic stem cell number

(2010) S. Guo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas

(2010) J. W. Harbour et al.   SCIENCE

The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes

(2009) J. W. Vardiman et al.   BLOOD

The Spliceosome: Design Principles of a Dynamic RNP Machine

(2009) Markus C. Wahl et al.   CELL

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

(2009) Elaine R. Mardis et al.   NEW ENGLAND JOURNAL OF MEDICINE