A Deep Exon Cryptic Splice Site Promotes Aberrant Intron Retention in a Von Willebrand Disease Patient

Integrative functional genomic analysis of intron retention in human and mouse brain with Alzheimer's disease

(2021) Hong‐Dong Li et al.   Alzheimers & Dementia

Minor intron retention drives clonal hematopoietic disorders and diverse cancer predisposition

(2021) Daichi Inoue et al.   NATURE GENETICS

Splicing in the Diagnosis of Rare Disease: Advances and Challenges

(2021) Jenny Lord et al.   Frontiers in Genetics

Roles and mechanisms of alternative splicing in cancer — implications for care

(2020) Sophie C. Bonnal et al.   Nature Reviews Clinical Oncology

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

(2020) Jack Humphrey et al.   NUCLEIC ACIDS RESEARCH

Full-length transcript characterization of SF3B1 mutation in chronic lymphocytic leukemia reveals downregulation of retained introns

(2020) Alison D. Tang et al.   Nature Communications

Complex landscape of alternative splicing in myeloid neoplasms

(2020) Courtney E. Hershberger et al.   LEUKEMIA

Widespread intron retention impairs protein homeostasis in C9orf72 ALS brains

(2020) Qingqing Wang et al.   GENOME RESEARCH

Intron retention and its impact on gene expression and protein diversity: A review and a practical guide

(2020) David F. Grabski et al.   Wiley Interdisciplinary Reviews-RNA

Prevalent intron retention fine‐tunes gene expression and contributes to cellular senescence

(2020) Jun Yao et al.   AGING CELL

Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome

(2019) Asaf Shilo et al.   NUCLEIC ACIDS RESEARCH

The regulation properties of RNA secondary structure in alternative splicing

(2019) Natalia Bartys et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease

(2019) Patrícia Varela et al.   Frontiers in Genetics

The changing paradigm of intron retention: regulation, ramifications and recipes

(2019) Geoffray Monteuuis et al.   NUCLEIC ACIDS RESEARCH

Characterization of splice-altering mutations in inherited predisposition to cancer

(2019) Silvia Casadei et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A comprehensive characterization ofcis-acting splicing-associated variants in human cancer

(2018) Yuichi Shiraishi et al.   GENOME RESEARCH

Intron retention induced by microsatellite expansions as a disease biomarker

(2018) Łukasz J. Sznajder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An important class of intron retention events in human erythroblasts is regulated by cryptic exons proposed to function as splicing decoys

(2018) Marilyn Parra et al.   RNA

Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS

(2018) Raphaelle Luisier et al.   Nature Communications

Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

(2018) Nina Borràs et al.   HAEMATOLOGICA

Intron retention as a component of regulated gene expression programs

(2017) Aishwarya G. Jacob et al.   HUMAN GENETICS

Von Willebrand disease mutation spectrum and associated mutation mechanisms

(2017) Annika de Jong et al.   THROMBOSIS RESEARCH

Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5' splice site

(2016) H. Yadegari et al.   BLOOD

RNA Sequence Context Effects Measured In Vitro Predict In Vivo Protein Binding and Regulation

(2016) J. Matthew Taliaferro et al.   MOLECULAR CELL

Global intron retention mediated gene regulation during CD4+T cell activation

(2016) Ting Ni et al.   NUCLEIC ACIDS RESEARCH

An Ultraconserved Element (UCE) controls homeostatic splicing of ARGLU1 mRNA

(2016) Stephan P. Pirnie et al.   NUCLEIC ACIDS RESEARCH

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

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

Biochemical identification of new proteins involved in splicing repression at theDrosophilaP-element exonic splicing silencer

(2015) Lucas Horan et al.   GENES & DEVELOPMENT

Intron retention is a widespread mechanism of tumor-suppressor inactivation

(2015) Hyunchul Jung et al.   NATURE GENETICS

Widespread intron retention diversifies most cancer transcriptomes

(2015) Heidi Dvinge et al.   Genome Medicine

Building Robust Transcriptomes with Master Splicing Factors

(2014) Mohini Jangi et al.   CELL

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

Removal of Retained Introns Regulates Translation in the Rapidly Developing Gametophyte of Marsilea vestita

(2013) Thomas C. Boothby et al.   DEVELOPMENTAL CELL

Pick one, but be quick: 5' splice sites and the problems of too many choices

(2013) X. Roca et al.   GENES & DEVELOPMENT

Exon and intron definition in pre-mRNA splicing

(2012) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

Stress-responsive maturation of Clk1/4 pre-mRNAs promotes phosphorylation of SR splicing factor

(2011) Kensuke Ninomiya et al.   JOURNAL OF CELL BIOLOGY

Expansion of the eukaryotic proteome by alternative splicing

(2010) Timothy W. Nilsen et al.   NATURE

Dynamic Regulation of Alternative Splicing by Silencers that Modulate 5′ Splice Site Competition

(2008) Yang Yu et al.   CELL

Conserved RNA secondary structures promote alternative splicing

(2008) P. J. Shepard et al.   RNA