DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy [PDF]
International Journal of Molecular Sciences, 2020 Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder characterized by asymmetric, progressive muscle weakness and degeneration. Patients display widely variable disease onset and severity, and sometimes present with extra-muscular symptoms.
Kenji Rowel Q. Lim +2 more
openaire +2 more sources
DUX4 Pathological Expression: Causes and Consequences in Cancer [PDF]
Trends in Cancer, 2019 DUX4, a double homeobox transcription factor, has been mostly studied in facioscapulohumeral dystrophy (FSHD), a pathology linked to a deletion of subtelomeric repeats on chromosome 4q. More recently, however, the gene has been associated with various sarcomas and haematological malignancies.
Carla Dib +6 more
openaire +2 more sources
The FSHD atrophic myotube phenotype is caused by DUX4 expression. [PDF]
PLoS ONE, 2011 BACKGROUND:Facioscapulohumeral muscular dystrophy (FSHD) is linked to deletions in 4q35 within the D4Z4 repeat array in which we identified the double homeobox 4 (DUX4) gene.
Céline Vanderplanck +8 more
doaj +1 more source
Identification of <i>IGH::DUX4</i> Rearrangements Using RNA-sequencing in a Patient with ALL: A Case Report. [PDF]
Ann Lab MedLim S +7 more
europepmc +2 more sources
A cre-inducible DUX4 transgenic mouse model for investigating facioscapulohumeral muscular dystrophy. [PDF]
PLoS ONE, 2018 The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD).
Takako Jones, Peter L Jones
doaj +1 more source
Redox Biology, 2021 Muscles of patients with facioscapulohumeral dystrophy (FSHD) are characterized by sporadic DUX4 expression and oxidative stress which is at least partially induced by DUX4 protein. Nevertheless, targeting oxidative stress with antioxidants has a limited
Anna Karpukhina +8 more
doaj +1 more source
FSHD muscular dystrophy Region Gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis [PDF]
, 2013 Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant myopathy with a strong epigenetic component. It is associated with deletion of a macrosatellite repeat leading to over-expression of the nearby genes. Among them, we focused on FSHD
Bortolanza S +9 more
core +1 more source
The dynamics of vertebrate homeobox gene evolution: gain and loss of genes in mouse and human lineages [PDF]
, 2011 Background: Homeobox genes are a large and diverse group of genes, many of which play important roles in transcriptional regulation during embryonic development.
Peter WH Holland, Ying-fu Zhong
core +2 more sources
Identification and evaluation of novel prognostic genetic markers for childhood acute lymphoblastic leukemia [PDF]
, 2017 Childhood acute lymphoblastic leukemia (ALL) is the most common form of childhood cancer today. Due to advances in risk stratification and treatment, survival rates have increased drastically the last decades. Currently, children with acute leukemia in
Ivanov Öfverholm, Ingegerd
core +1 more source
Deficiency of Capicua disrupts bile acid homeostasis [PDF]
, 2018 Capicua (CIC) has been implicated in pathogenesis of spinocerebellar ataxia type 1 and cancer in mammals; however, the in vivo physiological functions of CIC remain largely unknown.
Choi, N +12 more
core +2 more sources