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List of works by Stephen J Tapscott

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

scientific article

A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

scientific article published on 08 December 2021

A unifying genetic model for facioscapulohumeral muscular dystrophy

scientific article

Activation of Notch Signaling During Ex Vivo Expansion Maintains Donor Muscle Cell Engraftment ⬇️

scientific article published on October 1, 2012

Analyzing Cellular Immunity to AAV in a Canine Model Using ELISPOT Assay ⬇️

scientific article published on January 1, 2012

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

scientific article published on 4 September 2017

Chromosome 10q-linked FSHD identifies <i>DUX4</i> as principal disease gene

scientific article published in 2021

Clinical trial preparedness in facioscapulohumeral muscular dystrophy: Clinical, tissue, and imaging outcome measures 29-30 May 2015, Rochester, New York

scientific article

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

scientific article

Corrigendum. Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on February 2016

DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD.

scientific article published on 3 June 2015

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

scientific article

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

scientific article

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

scientific article

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

scientific article

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

scientific article

Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2.

scientific article published on 21 November 2017

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

scientific article (publication date: 11 November 2012)

Emerging parallels in the generation and regeneration of skeletal muscle

scientific article

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47.

scientific article published on 3 August 2011

Expanding Donor Muscle‐Derived Cells for Transplantation ⬇️

scientific article published on January 1, 2013

Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene

scientific article

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

scientific article

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence

scientific article

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation

scientific article

Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient: a cellular model for FSHD

scientific article

Genome-wide transcription factor binding: beyond direct target regulation ⬇️

scientific article published on February 4, 2011

Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

scientific article published on 20 May 2015

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage

scholarly article by Yosuke Hiramuki published in August 2018

Immunity and AAV-Mediated Gene Therapy for Muscular Dystrophies in Large Animal Models and Human Trials ⬇️

scientific article published on September 26, 2011

Immunodetection of Human Double Homeobox 4 ⬇️

scientific article published on April 1, 2011

Immunohistochemical Characterization of Facioscapulohumeral Muscular Dystrophy Muscle Biopsies

scientific article

Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4.

scientific article published on 17 November 2015

Inhibition of CD26/DPP-IV enhances donor muscle cell engraftment and stimulates sustained donor cell proliferation

scientific article published on 16 February 2012

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

scientific article

Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

scientific article

Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing

scientific article published on 01 November 2019

Local Gene Delivery and Methods to Control Immune Responses in Muscles of Normal and Dystrophic Dogs ⬇️

scientific article published on January 1, 2011

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

article

Mapping contrast agent uptake and retention in MRI studies of myocardial perfusion: case control study of dogs with Duchenne muscular dystrophy ⬇️

scientific article published on October 17, 2012

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats

scientific article

Mitogen-activated Protein Kinase Pathway Is Involved in the Differentiation of Muscle Cells ⬇️

scientific article published on April 24, 1998

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

scientific article

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

scientific article published on 21 March 2018

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy

scientific article

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies

scientific article

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

scientific article published on May 2016

NeuroD Homologue Expression During Cortical Development in the Human Brain ⬇️

scientific article published on November 1, 2001

NuRD and CAF-1-mediated silencing of the D4Z4 array is modulated by DUX4-induced MBD3L proteins.

scientific article published on 13 March 2018

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of FSHD

article

Quantitative proteomics reveals key roles for post-transcriptional gene regulation in the molecular pathology of facioscapulohumeral muscular dystrophy

article

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

scientific article (publication date: 9 April 2009)

Requirement of the mouseI-mfagene for placental development and skeletal patterning ⬇️

scientific article published on November 2, 1998

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

scientific article published on 6 June 2017

Selective Instability: Maternal Effort and the Evolution of Gene Activation and Deactivation Rates ⬇️

scientific article published on January 1, 2003

Sibling rivalry, arrested development and chromosomal mayhem ⬇️

scientific article published on 01 May 1998

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

scientific article published on 01 April 2019

Skeletal muscle programming and re-programming ⬇️

scientific article published on June 4, 2013

Smchd1 haploinsufficiency exacerbates the phenotype of a transgenic FSHD1 mouse model

scientific article

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

scientific article (publication date: October 2013)

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP ⬇️

scientific article published on August 1, 1997

XIC is required for Siamois activity and dorsoanterior development

scientific article

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