Results 101 to 110 of about 3,790 (193)
Facioscapulohumeral muscular dystrophy (FSHD) is the third most diagnosed muscular dystrophy. The disease is caused by genetic and epigenetic disruptions that result in misexpression of the germline transcription factor DUX4 in skeletal muscle, leading ...
Katelyn Daman +8 more
doaj +1 more source
Double homeobox 4 (DUX4) on transkriptiotekijä, jonka ekspressio on normaalisti hiljennetty somaattisissa soluissa, mutta jonka ekspressio aktivoituu varhaisessa alkiossa. Alkio käyttää maternaalisia transkriptejä ennen kuin sen oman genomin transkriptio
Narvanto, Jenni
core
Mouse model to understand the role of Dux4 in FSHD [PDF]
FSHD is an autosomal dominant disease that affects 1:20000 individuals. Mapping studies have associated the disease with a reduced number (1-10) of the D4Z4 macrosatellite repeats from the usual ~100.
Bosnakovski, Darko +7 more
core +1 more source
A dedicated caller for DUX4 rearrangements from whole-genome sequencing data
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no ‘standard of care’ diagnostic method for their confident identification.
Pascal Grobecker +15 more
doaj +1 more source
Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disease caused by ectopic expression of the toxic protein DUX4, resulting in muscle weakness. However, the mechanism by which DUX4 exerts its toxicity remains unclear.
Kodai Nakamura +9 more
doaj +1 more source
Phase separation of DUX family proteins drives totipotent-like state via 3D genome reorganization and retrotransposon activation. [PDF]
Gao L +14 more
europepmc +1 more source

