Targeted epigenetic repression by CRISPR/dSaCas9 suppresses pathogenic DUX4-fl expression in FSHD

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity

(2020) Takako I. Jones et al.   Skeletal Muscle

P38&#945 Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy

(2020) Luis A Rojas et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells

(2019) Yi-Li Min et al.   Science Advances

The Genetics and Epigenetics of Facioscapulohumeral Muscular Dystrophy

(2019) Charis L. Himeda et al.   Annual Review of Genomics and Human Genetics

CIC-DUX4 oncoprotein drives sarcoma metastasis and tumorigenesis via distinct regulatory programs

(2019) Ross A. Okimoto et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy

(2019) Jonathan Oliva et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Active fusions of Cas9 orthologs

(2019) Goran Josipović et al.   JOURNAL OF BIOTECHNOLOGY

Rationally engineered Staphylococcus aureus Cas9 nucleases with high genome-wide specificity

(2019) Yuanyan Tan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy

(2019) Amber L. Mueller et al.   EXPERIMENTAL NEUROLOGY

Dead Cas Systems: Types, Principles, and Applications

(2019) Sergey Brezgin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Epigenome editing strategies for the functional annotation of CTCF insulators

(2019) Daniel R. Tarjan et al.   Nature Communications

Transcriptional activities of DUX4 fusions in B-cell acute lymphoblastic leukemia

(2018) Yosuke Tanaka et al.   HAEMATOLOGICA

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle

(2018) Amy E Campbell et al.   HUMAN MOLECULAR GENETICS

Protein kinase A activation inhibits DUX4 gene expression in myotubes from patients with facioscapulohumeral muscular dystrophy

(2018) Joseph M. Cruz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A CRISPR–dCas Toolbox for Genetic Engineering and Synthetic Biology

(2018) Xiaoshu Xu et al.   JOURNAL OF MOLECULAR BIOLOGY

Identification of Epigenetic Regulators of DUX4-fl for Targeted Therapy of Facioscapulohumeral Muscular Dystrophy

(2018) Charis L. Himeda et al.   MOLECULAR THERAPY

A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy

(2018) Takako Jones et al.   PLoS One

Transcriptional activities of DUX4 fusions in B-cell acute lymphoblastic leukemia

(2018) Yosuke Tanaka et al.   HAEMATOLOGICA

Evolved Cas9 variants with broad PAM compatibility and high DNA specificity

(2018) Johnny H. Hu et al.   NATURE

Oncogenic Amplification of Zygotic Dux Factors in Regenerating p53-Deficient Muscle Stem Cells Defines a Molecular Cancer Subtype

(2018) Jens Preussner et al.   Cell Stem Cell

MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD

(2018) Leo H Wang et al.   HUMAN MOLECULAR GENETICS

R-loop formation by dCas9 is mutagenic in Saccharomyces cerevisiae

(2018) Marian F Laughery et al.   NUCLEIC ACIDS RESEARCH

Enhanced proofreading governs CRISPR–Cas9 targeting accuracy

(2017) Janice S. Chen et al.   NATURE

APOBEC3 induces mutations during repair of CRISPR–Cas9-generated DNA breaks

(2017) Liqun Lei et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

dCas9-based epigenome editing suggests acquisition of histone methylation is not sufficient for target gene repression

(2017) Henriette O’Geen et al.   NUCLEIC ACIDS RESEARCH

APOBEC3 induces mutations during repair of CRISPR–Cas9-generated DNA breaks

(2017) Liqun Lei et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells

(2017) Amy E. Campbell et al.   Skeletal Muscle

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

(2016) Marlinde L. van den Boogaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing

(2016) Angelo Amabile et al.   CELL

Biology and Applications of CRISPR Systems: Harnessing Nature’s Toolbox for Genome Engineering

(2016) Addison V. Wright et al.   CELL

Antisense targeting of 3′ end elements involved inDUX4mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach

(2016) Anne-Charlotte Marsollier et al.   HUMAN MOLECULAR GENETICS

CRISPR/dCas9-mediated Transcriptional Inhibition Ameliorates the Epigenetic Dysregulation at D4Z4 and Represses DUX4-fl in FSH Muscular Dystrophy

(2016) Charis L Himeda et al.   MOLECULAR THERAPY

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

(2016) Benjamin P. Kleinstiver et al.   NATURE

Efficient targeted DNA methylation with chimeric dCas9–Dnmt3a–Dnmt3L methyltransferase

(2016) Peter Stepper et al.   NUCLEIC ACIDS RESEARCH

Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies

(2016) Charis L. Himeda et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

A Human Pluripotent Stem Cell Model of Facioscapulohumeral Muscular Dystrophy-Affected Skeletal Muscles

(2016) Leslie Caron et al.   Stem Cells Translational Medicine

In vivo genome editing using Staphylococcus aureus Cas9

(2015) F. Ann Ran et al.   NATURE

Highly specific epigenome editing by CRISPR-Cas9 repressors for silencing of distal regulatory elements

(2015) Pratiksha I Thakore et al.   NATURE METHODS

In vivo gene editing in dystrophic mouse muscle and muscle stem cells

(2015) M. Tabebordbar et al.   SCIENCE

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

(2015) Takako I Jones et al.   Clinical Epigenetics

Dopamine neurons projecting to the posterior striatum form an anatomically distinct subclass

(2015) William Menegas et al.   eLife

Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts

(2015) Paraskevi Sakellariou et al.   Skeletal Muscle

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

(2014) Zizhen Yao et al.   HUMAN MOLECULAR GENETICS

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene

(2014) C. L. Himeda et al.   MOLECULAR AND CELLULAR BIOLOGY

Mechanisms of functional promiscuity by HP1 proteins

(2014) Daniele Canzio et al.   TRENDS IN CELL BIOLOGY

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

(2014) Takako I Jones et al.   Clinical Epigenetics

DUX4 Binding to Retroelements Creates Promoters That Are Active in FSHD Muscle and Testis

(2013) Janet M. Young et al.   PLoS Genetics

Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD

(2013) Yvonne D. Krom et al.   PLoS Genetics

Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD

(2012) Judit Balog et al.   Epigenetics

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis

(2012) Takako Iida Jones et al.   HUMAN MOLECULAR GENETICS

DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy?

(2012) Alexandra Tassin et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy

(2012) Lindsay M Wallace et al.   MOLECULAR THERAPY

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Polycomb-Repressed Genes Have Permissive Enhancers that Initiate Reprogramming

(2011) Phillippa C. Taberlay et al.   CELL

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Recent advances in MeCP2 structure and functionThis paper is one of a selection of papers published in this Special Issue, entitled 29th Annual International Asilomar Chromatin and Chromosomes Conference, and has undergone the Journal’s usual peer review process.

(2009) Kristopher C. Hite et al.   Biochemistry and Cell Biology

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

(2009) Beatrice Bodega et al.   BMC BIOLOGY

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

(2009) Rinse Klooster et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

(2009) Jessica C. de Greef et al.   HUMAN MUTATION

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

(2009) Weihua Zeng et al.   PLoS Genetics