Pioneer factors as master regulators of the epigenome and cell fate

A Balsalobre, J Drouin - Nature Reviews Molecular Cell Biology, 2022 - nature.com
Pioneer factors are transcription factors with the unique ability to initiate opening of closed
chromatin. The stability of cell identity relies on robust mechanisms that maintain the …

Histone variants at a glance

PB Talbert, S Henikoff - Journal of Cell Science, 2021 - journals.biologists.com
Eukaryotic nucleosomes organize chromatin by wrapping 147 bp of DNA around a histone
core particle comprising two molecules each of histone H2A, H2B, H3 and H4. The DNA …

[HTML][HTML] 8C-like cells capture the human zygotic genome activation program in vitro

J Taubenschmid-Stowers, M Rostovskaya, F Santos… - Cell stem cell, 2022 - cell.com
The activation of the embryonic genome marks the first major wave of transcription in the
developing organism. Zygotic genome activation (ZGA) in mouse 2-cell embryos and 8-cell …

Facioscapulohumeral muscular dystrophy: the road to targeted therapies

MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …

Contributions of histone variants in nucleosome structure and function

H Kurumizaka, T Kujirai, Y Takizawa - Journal of molecular biology, 2021 - Elsevier
Chromatin compacts genomic DNA in eukaryotes. The primary chromatin unit is the
nucleosome core particle, composed of four pairs of the core histones, H2A, H2B, H3, and …

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

CRS Banerji, PS Zammit - EMBO molecular medicine, 2021 - embopress.org
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal
muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …

Transient DUX4 expression in human embryonic stem cells induces blastomere-like expression program that is marked by SLC34A2

M Yoshihara, I Kirjanov, S Nykänen, J Sokka, J Weltner… - Stem Cell Reports, 2022 - cell.com
Embryonic genome activation (EGA) is critical for embryonic development. However, our
understanding of the regulatory mechanisms of human EGA is still incomplete. Human …

DUX4 role in normal physiology and in FSHD muscular dystrophy

E Mocciaro, V Runfola, P Ghezzi, M Pannese… - Cells, 2021 - mdpi.com
In the last decade, the sequence-specific transcription factor double homeobox 4 (DUX4)
has gone from being an obscure entity to being a key factor in important physiological and …

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD)
does not exist currently, recent advances in complex molecular pathophysiology studies of …

DUX4 signalling in the pathogenesis of facioscapulohumeral muscular dystrophy

KRQ Lim, Q Nguyen, T Yokota - International journal of molecular …, 2020 - mdpi.com
Facioscapulohumeral muscular dystrophy (FSHD) is a disabling inherited muscular disorder
characterized by asymmetric, progressive muscle weakness and degeneration. Patients …