Exploiting the CRISPR/Cas9 system to study alternative splicingin vivo: application to titin

A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells

(2016) Courtney S. Young et al.   Cell Stem Cell

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy

(2015) Karine Charton et al.   HUMAN MOLECULAR GENETICS

Regulation of miR-24, miR-30b, and miR-142-3p during macrophage and dendritic cell differentiation potentiates innate immunity

(2015) Jezrom B. Fordham et al.   JOURNAL OF LEUKOCYTE BIOLOGY

Rationally engineered Cas9 nucleases with improved specificity

(2015) I. M. Slaymaker et al.   SCIENCE

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

(2015) Frédérique Rau et al.   Nature Communications

Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms

(2015) Donald M. Dixon et al.   Scientific Reports

Site-specific integration in CHO cells mediated by CRISPR/Cas9 and homology-directed DNA repair pathway

(2015) Jae Seong Lee et al.   Scientific Reports

One-step Generation of Phenotype-expressing Triple-knockout Mice with Heritable Mutated Alleles by the CRISPR/Cas9 System

(2014) Wataru FUJII et al.   JOURNAL OF REPRODUCTION AND DEVELOPMENT

Construction and characterization of adenoviral vectors for the delivery of TALENs into human cells

(2014) Maarten Holkers et al.   METHODS

Cis -splicing and Translation of the Pre- Trans -splicing Molecule Combine With Efficiency in Spliceosome-mediated RNA Trans -splicing

(2014) François Monjaret et al.   MOLECULAR THERAPY

Generating genetically modified mice using CRISPR/Cas-mediated genome engineering

(2014) Hui Yang et al.   Nature Protocols

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Genetic Screens in Human Cells Using the CRISPR-Cas9 System

(2013) Tim Wang et al.   SCIENCE

RNA-programmed genome editing in human cells

(2013) Martin Jinek et al.   eLife

RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

(2012) Wei Guo et al.   NATURE MEDICINE

The importance of identifying alternative splicing in vertebrate genome annotation

(2012) Adam Frankish et al.   Database-The Journal of Biological Databases and Curation

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies

(2010) Karine Charton et al.   HUMAN MOLECULAR GENETICS

Interactions with M-band Titin and Calpain 3 Link Myospryn (CMYA5) to Tibial and Limb-girdle Muscular Dystrophies

(2010) Jaakko Sarparanta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Efficientin VivoManipulation of Alternative Pre-mRNA Splicing Events Using Antisense Morpholinos in Mice

(2010) Marilyn K. Parra et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Titin Diversity—Alternative Splicing Gone Wild

(2010) Wei Guo et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy

(2010) Koichi Ojima et al.   JOURNAL OF CLINICAL INVESTIGATION

ZiFiT (Zinc Finger Targeter): an updated zinc finger engineering tool

(2010) J. D. Sander et al.   NUCLEIC ACIDS RESEARCH

Truncation of Titin’s Elastic PEVK Region Leads to Cardiomyopathy With Diastolic Dysfunction

(2009) Henk L. Granzier et al.   CIRCULATION RESEARCH

Common micro-RNA signature in skeletal muscle damage and regeneration induced by Duchenne muscular dystrophy and acute ischemia

(2009) Simona Greco et al.   FASEB JOURNAL

H-DBAS: human-transcriptome database for alternative splicing: update 2010

(2009) Jun-ichi Takeda et al.   NUCLEIC ACIDS RESEARCH

Cardiac ankyrin repeat protein is a marker of skeletal muscle pathological remodelling

(2008) Lydie Laure et al.   FEBS Journal

Multiple Molecular Interactions Implicate the Connectin/Titin N2A Region as a Modulating Scaffold for p94/Calpain 3 Activity in Skeletal Muscle

(2008) Chikako Hayashi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD)

(2008) Peter Hackman et al.   NEUROMUSCULAR DISORDERS