Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy (Q90660718)

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15 April 2020

title

Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy (English)

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facioscapulohumeral muscular dystrophy

15 April 2020

main subject

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15 April 2020

Yuanfan Zhang

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15 April 2020

Keryn G Woodman

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Alec M DeSimone

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15 April 2020

Justin Cohen

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15 April 2020

James Conner

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Lillian Mead

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15 April 2020

Neville E Sanjana

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Louis M. Kunkel

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Oliver D King

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15 April 2020

author name string

Shushu Huang

4

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15 April 2020

Vincent Ho

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Andrew Kodani

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Anna Pakula

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Peter L Jones

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15 April 2020

Kathryn R Wagner

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Monkol Lek

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15 April 2020

publication date

1 March 2020

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Science Translational Medicine

15 April 2020

published in

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volume

12

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15 April 2020

issue

536

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Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy

15 April 2020

cites work

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The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: implications for a role of chromatin structure in the pathogenesis of the disease.

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Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.

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Hypoxia-induced activation of p38 mitogen-activated protein kinase and phosphatidylinositol 3'-kinase signaling pathways contributes to expression of interleukin 8 in human ovarian carcinoma cells

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The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein

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DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1

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A unifying genetic model for facioscapulohumeral muscular dystrophy

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Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

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DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo

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Gene expression during normal and FSHD myogenesis

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DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

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RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy.

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Attachment of Chlamydia trachomatis L2 to host cells requires sulfation.

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

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Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers.

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12 December 2020

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy

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

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12 December 2020

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

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Oxygen-independent regulation of HIF-1: novel involvement of PI3K/AKT/mTOR pathway in cancer

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A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

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Transcriptional regulation by hypoxia inducible factors

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DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis

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Genome-scale CRISPR-Cas9 knockout screening in human cells

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

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

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Improved vectors and genome-wide libraries for CRISPR screening

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Population-based incidence and prevalence of facioscapulohumeral dystrophy

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MAGeCK enables robust identification of essential genes from genome-scale CRISPR/Cas9 knockout screens

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β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.

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12 December 2020

A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy

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12 December 2020

Genome-wide CRISPR screen in a mouse model of tumor growth and metastasis

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12 December 2020

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways

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12 December 2020

HIF-1α pathway: role, regulation and intervention for cancer therapy

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The p38 MAP kinase pathway modulates the hypoxia response and glutamate receptor trafficking in aging neurons

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Identification of approved and investigational drugs that inhibit hypoxia-inducible factor-1 signaling

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DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes.

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Therapeutic targeting of hypoxia and hypoxia-inducible factors in cancer

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

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Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics

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A Genome-wide CRISPR Screen in Toxoplasma Identifies Essential Apicomplexan Genes

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DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis

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Genome-wide CRISPR screens reveal a Wnt-FZD5 signaling circuit as a druggable vulnerability of RNF43-mutant pancreatic tumors

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A genome-wide CRISPR screen identifies a restricted set of HIV host dependency factors.

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Model systems of DUX4 expression recapitulate the transcriptional profile of FSHD cells

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DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy

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p53-independent DUX4 pathology in cell and animal models of facioscapulohumeral muscular dystrophy.

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Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.

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CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

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Genome-wide CRISPR/Cas9 Screen Identifies Host Factors Essential for Influenza Virus Replication.

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Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy

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Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis

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Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

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

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A novel P300 inhibitor reverses DUX4-mediated global histone H3 hyperacetylation, target gene expression, and cell death

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