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
The DUX4 cytotoxic cascade, and CRISPR mitigation methods [PDF]
, 2021 Facioscapulohumeral muscular dystrophy (FSHD) is a muscle degenerative disease that disproportionally affects the muscles of the face, shoulder girdle and upper arms. FSHD is caused by the ectopic expression of Double Homeobox 4 (DUX4), which has been derepressed due to aberrant genetic and epigenetic events.
openaire +3 more sources
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
Long-Term Systemic Treatment of a Mouse Model Displaying Chronic FSHD-like Pathology with Antisense Therapeutics That Inhibit DUX4 Expression [PDF]
, 2022 Silencing the expression of the double homeobox 4 (DUX4) gene offers great potential for the treatment of facioscapulohumeral muscular dystrophy (FSHD). Several research groups have recently reported promising results using systemic antisense therapy in ...
Dickson, George +3 more
core +1 more source
Two‐way inhibition of PAX5 transcriptional activity by PAX5::CBFA2T3
FEBS Open Bio, EarlyView.PAX5::CBFA2T3 (PAX5‐C) is a fusion protein of the B‐cell transcription factor, PAX5, and is found in B‐cell ALL. We propose a putative model of two‐way inhibition of PAX5 transcriptional activity by PAX5‐C. There are two ways of repression by PAX5‐C: DNA‐binding‐dependent way and HDAC‐dependent way, with either being sufficient for the repression. HDAC
Reina Ueno +12 more
wiley +1 more source
DUX4 binding to retroelements creates promoters that are active in FSHD muscle and testis. [PDF]
PLoS Genetics, 2013 The human double-homeodomain retrogene DUX4 is expressed in the testis and epigenetically repressed in somatic tissues. Facioscapulohumeral muscular dystrophy (FSHD) is caused by mutations that decrease the epigenetic repression of DUX4 in somatic ...
Janet M Young +9 more
doaj +1 more source
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. [PDF]
, 2015 BackgroundFacioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35.
Arne-Bes, M.C. +22 more
core +3 more sources