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

Molecular therapy, 2016-03, Vol.24 (3), p.527-535

2016

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Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

Disease models & mechanisms, 2021-08, Vol.14 (8)

2021

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

Molecular therapy. Methods & clinical development, 2021-03, Vol.20, p.298-311

2021

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Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)

PloS one, 2016-03, Vol.11 (3), p.e0150938-e0150938

2016

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

Molecular and cellular biology, 2014-06, Vol.34 (11), p.1942-1955

2014

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

Skeletal muscle, 2020-04, Vol.10 (1), p.8-28, Article 8

2020

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Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

Diagnostics (Basel), 2021-08, Vol.11 (8), p.1469

2021

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

Clinical epigenetics, 2014-10, Vol.6 (1), p.23-23, Article 23

2014

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Have a Little Heart (or Not): Highly Minimized Skeletal Muscle Regulatory Cassettes with Low or No Activity in the Heart

Human gene therapy, 2024-08, Vol.35 (15-16), p.543-554

2024

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Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD

Human molecular genetics, 2023-05, Vol.32 (11), p.1864-1874

2023

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

Molecular therapy, 2018-07, Vol.26 (7), p.1797-1807

2018

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Nature genetics, 2017-02, Vol.49 (2), p.238-248

2017

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Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

Human molecular genetics, 2024-04, Vol.33 (8), p.698-708

2024

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Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease

Antioxidants & redox signaling, 2015-06, Vol.22 (16), p.1463

2015

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Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy

Experimental neurology, 2019-10, Vol.320, p.113011-113011, Article 113011

2019

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Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.221-238

2017

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Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies

Trends in pharmacological sciences (Regular ed.), 2016-04, Vol.37 (4), p.249-251

2016

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Dosage-Adjusted Resistance Training in Mice with a Reduced Risk of Muscle Damage

Journal of visualized experiments, 2022-08 (186)

2022

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C. elegans PAT-9 is a nuclear zinc finger protein critical for the assembly of muscle attachments

Cell & bioscience, 2012-05, Vol.2 (1), p.18-18, Article 18

2012

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

Clinical epigenetics, 2015-03, Vol.7 (1), p.37-37, Article 37

2015

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Human skeletal muscle xenograft as a new preclinical model for muscle disorders

Human molecular genetics, 2014-06, Vol.23 (12), p.3180-3188

2014

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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Neuromuscular disorders : NMD, 2013-12, Vol.23 (12), p.975-980

2013

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Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein

Journal of molecular biology, 2011-08, Vol.411 (2), p.397-416

2011

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Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

Differentiation (London), 2011-02, Vol.81 (2), p.107-118

2011

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

Identification of candidate miRNA biomarkers for facioscapulohumeral muscular dystrophy using DUX4-based mouse models

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

Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD)

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

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

Precise Epigenetic Analysis Using Targeted Bisulfite Genomic Sequencing Distinguishes FSHD1, FSHD2, and Healthy Subjects

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

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

Have a Little Heart (or Not): Highly Minimized Skeletal Muscle Regulatory Cassettes with Low or No Activity in the Heart

Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD

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

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Regional and bilateral MRI and gene signatures in facioscapulohumeral dystrophy: implications for clinical trial design and mechanisms of disease progression

Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease

Muscle xenografts reproduce key molecular features of facioscapulohumeral muscular dystrophy

Large family cohorts of lymphoblastoid cells provide a new cellular model for investigating facioscapulohumeral muscular dystrophy

Scalpel or Straitjacket: CRISPR/Cas9 Approaches for Muscular Dystrophies

Dosage-Adjusted Resistance Training in Mice with a Reduced Risk of Muscle Damage

C. elegans PAT-9 is a nuclear zinc finger protein critical for the assembly of muscle attachments

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

Human skeletal muscle xenograft as a new preclinical model for muscle disorders

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Facioscapulohumeral Muscular Dystrophy Region Gene 1 Is a Dynamic RNA-Associated and Actin-Bundling Protein

Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein

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