Epigenetics and human disease
Genetic causes for human disorders are being discovered at an unprecedented pace. A
growing subclass of disease-causing mutations involves changes in the epigenome or in the …
growing subclass of disease-causing mutations involves changes in the epigenome or in the …
The intertwining of transposable elements and non-coding RNAs
Growing evidence shows a close association of transposable elements (TE) with non-coding
RNAs (ncRNA), and a significant number of small ncRNAs originate from TEs. Further …
RNAs (ncRNA), and a significant number of small ncRNAs originate from TEs. Further …
Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults
T Yasuda, S Tsuzuki, M Kawazu, F Hayakawa… - Nature …, 2016 - nature.com
The oncogenic mechanisms underlying acute lymphoblastic leukemia (ALL) in adolescents
and young adults (AYA; 15–39 years old) remain largely elusive,,. Here we have searched …
and young adults (AYA; 15–39 years old) remain largely elusive,,. Here we have searched …
A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy
DS Cabianca, V Casa, B Bodega, A Xynos, E Ginelli… - Cell, 2012 - cell.com
Repetitive sequences account for more than 50% of the human genome.
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease …
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease …
The Tug1 lncRNA locus is essential for male fertility
Abstract Background Several long noncoding RNAs (lncRNAs) have been shown to function
as components of molecular machines that play fundamental roles in biology. While the …
as components of molecular machines that play fundamental roles in biology. While the …
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis
TI Jones, JCJ Chen, F Rahimov… - Human molecular …, 2012 - academic.oup.com
Facioscapulohumeral muscular dystrophy (FSHD), the most prevalent myopathy afflicting
both children and adults, is predominantly associated with contractions in the 4q35-localized …
both children and adults, is predominantly associated with contractions in the 4q35-localized …
A human pluripotent stem cell model of facioscapulohumeral muscular dystrophy-affected skeletal muscles
Facioscapulohumeral muscular dystrophy (FSHD) represents a major unmet clinical need
arising from the progressive weakness and atrophy of skeletal muscles. The dearth of …
arising from the progressive weakness and atrophy of skeletal muscles. The dearth of …
Roles for long non-coding RNAs in physiology and disease
MT Melissari, P Grote - Pflügers Archiv-European Journal of Physiology, 2016 - Springer
While the vast majority of the genome is transcribed into RNA, only a small fraction of these
transcripts have protein-coding potential. A large fraction of the transcribed RNA belongs to …
transcripts have protein-coding potential. A large fraction of the transcribed RNA belongs to …
DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients
Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular
dystrophies in the Western world, however, its etiology remains only partially understood …
dystrophies in the Western world, however, its etiology remains only partially understood …
Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1
M Larsen, S Rost, N El Hajj, A Ferbert… - European Journal of …, 2015 - nature.com
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular
disorder with a wide clinical variability. Contractions of the D4Z4 macrosatellite repeat on …
disorder with a wide clinical variability. Contractions of the D4Z4 macrosatellite repeat on …