Publications

One of the most important parts of science is telling people about your results. This is usually done in the form of a paper in a scientific journal. Results from all experiments should be written up and published. This way scientists, clinicians and the community can see what works, what doesn’t and it gives the researcher who did the work ownership of the project.

FSHD Global encourages researchers we fund to publish as much of their work as possible to help drive the discovery of treatments and cures.

Here are a number of articles written about studies that were possible through FSHD Global funding. Many of these will also have summaries written about them in the blog section of the website.

Read Previous Publications

FSHD myotubes with different phenotypes exhibit distinct proteomes

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

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

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

Genetic and epigenetic contributors to FSHD

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences

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

The Role of D4Z4-Encoded Proteins in the Osteogenic Differentiation of Mesenchymal Stromal Cells Isolated from Bone Marrow

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

FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1)

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

DNA methylation analysis of the macrosatellite repeat associated with FSHD muscular dystrophy at single nucleotide level

Direct interplay between two candidate genes in FSHD muscular dystrophy

Long noncoding RNAs, emerging players in muscle differentiation and disease

Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy

DUX4 differentially regulates transcriptomes of human rhabdomyosarcoma and mouse C2C12 cells

Overexpression of facioscapulohumeral muscular dystrophy region gene 1 causes primary defects in myogenic stem cells

FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis

Rbfox1 downregulation and altered calpain 3 splicing by FRG1 in a mouse model of Facioscapulohumeral muscular dystrophy (FSHD)

Deciphering transcription dysregulation in FSH muscular dystrophy

FSHD myotubes with different phenotypes exhibit distinct proteomes

A novel molecular mechanism in human genetic disease: a DNA repeat-derived lncRNA

A repetitive elements perspective in Polycomb epigenetics

A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy

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

AAV6-mediated systemic shRNA delivery reverses disease in a mouse model of facioscapulohumeral muscular dystrophy

Gene expression during normal and FSHD myogenesis

Replication timing of human telomeres is chromosome arm-specific, influenced by subtelomeric structures and connected to nuclear localization

Identification of FHL1 as a regulator of skeletal muscle mass: implications for human myopathy