The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer

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

(2015) Eunhee Kim et al.   CANCER CELL

Antisense oligonucleotide–mediated MDM4 exon 6 skipping impairs tumor growth

(2015) Michael Dewaele et al.   JOURNAL OF CLINICAL INVESTIGATION

Synonymous Mutations Frequently Act as Driver Mutations in Human Cancers

(2014) Fran Supek et al.   CELL

TheETFDHc.158A>G Variation Disrupts the Balanced Interplay of ESE- and ESS-Binding Proteins thereby Causing Missplicing and Multiple Acyl-CoA Dehydrogenation Deficiency

(2013) Rikke K. J. Olsen et al.   HUMAN MUTATION

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

(2013) Valeria Rimoldi et al.   PLoS One

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

(2013) E. Giannoulatou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val

(2012) Emma M.M. Burkitt-Wright et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D

(2012) Sybille Lorenz et al.   European Journal of Medical Genetics

SRp20 is a proto-oncogene critical for cell proliferation and tumor induction and maintenance

(2012) Rong Jia et al.   International Journal of Biological Sciences

The splicing factor SRSF6 is amplified and is an oncoprotein in lung and colon cancers

(2012) Michal Cohen-Eliav et al.   JOURNAL OF PATHOLOGY

hnRNP A1 and hnRNP F Modulate the Alternative Splicing of Exon 11 of the Insulin Receptor Gene

(2011) Indrani Talukdar et al.   PLoS One

Antitumorigenic potential of STAT3 alternative splicing modulation

(2011) F. Zammarchi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A rational nomenclature for serine/arginine-rich protein splicing factors (SR proteins)

(2010) J. L. Manley et al.   GENES & DEVELOPMENT

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

(2010) Steven F. Dobrowolski et al.   MOLECULAR GENETICS AND METABOLISM

Anti-tumor activity of splice-switching oligonucleotides

(2010) John A. Bauman et al.   NUCLEIC ACIDS RESEARCH

hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome

(2008) A. Masuda et al.   HUMAN MOLECULAR GENETICS