(Q51148325)

31 March 2018

title

Exploiting the CRISPR/Cas9 system to study alternative splicing in vivo: application to titin. (English)

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31 March 2018

alternative mRNA splicing, via spliceosome

main subject

CRISPR

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Karine Charton

1

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31 March 2018

Laurence Suel

2

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31 March 2018

Sara F Henriques

3

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31 March 2018

Jean-Paul Moussu

4

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31 March 2018

Matteo Bovolenta

5

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31 March 2018

Miguel Taillepierre

6

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31 March 2018

Céline Becker

7

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31 March 2018

Karelia Lipson

8

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31 March 2018

Isabelle Richard

9

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31 March 2018

publication date

1 October 2016

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31 March 2018

published in

Human Molecular Genetics

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31 March 2018

volume

25

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31 March 2018

issue

20

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31 March 2018

page(s)

4518-4532

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31 March 2018

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

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The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system

21 January 2018

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The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

21 January 2018

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Molecular structure of the sarcomeric M band: mapping of titin and myosin binding domains in myomesin and the identification of a potential regulatory phosphorylation site in myomesin.

21 January 2018

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Expression of distinct classes of titin isoforms in striated and smooth muscles by alternative splicing, and their conserved interaction with filamins

21 January 2018

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Gigantic variety: expression patterns of titin isoforms in striated muscles and consequences for myofibrillar passive stiffness

21 January 2018

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Genomic organization of M line titin and its tissue-specific expression in two distinct isoforms.

21 January 2018

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Titin diversity--alternative splicing gone wild

21 January 2018

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

21 January 2018

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

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

21 January 2018

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21 January 2018

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Suppressed disassembly of autolyzing p94/CAPN3 by N2A connectin/titin in a genetic reporter system.

21 January 2018

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

21 January 2018

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

21 January 2018

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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

21 January 2018

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Muscle-specific calpain, p94, interacts with the extreme C-terminal region of connectin, a unique region flanked by two immunoglobulin C2 motifs.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

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

21 January 2018

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

21 January 2018

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Characterization and in vivo functional analysis of splice variants of cypher

21 January 2018

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Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.

21 January 2018

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RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing

21 January 2018

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

21 January 2018

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21 January 2018

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One-step generation of phenotype-expressing triple-knockout mice with heritable mutated alleles by the CRISPR/Cas9 system.

21 January 2018

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

21 January 2018

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21 January 2018

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

21 January 2018

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Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Reversible unfolding of fibronectin type III and immunoglobulin domains provides the structural basis for stretch and elasticity of titin and fibronectin

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Fine structure of the A-band in cryo-sections. The structure of the A-band of human skeletal muscle fibres from ultra-thin cryo-sections negatively stained

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Fine structure of the A-band in cryo-sections. Diversity of M-band structure in chicken breast muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Expression and functional characteristics of calpain 3 isoforms generated through tissue-specific transcriptional and posttranscriptional events

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Zinc Finger Targeter (ZiFiT): an engineered zinc finger/target site design tool.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Genetic screens in human cells using the CRISPR-Cas9 system

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

RNA-programmed genome editing in human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDW280

21 January 2018

Identifiers

DOI

10.1093/HMG/DDW280

1 reference

31 March 2018

1 reference

31 March 2018