Alteration of the epigenome is associated with a wide range of human diseases. Therefore,
deciphering the pathways that regulate the epigenetic modulation of gene expression is a�…

The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual�…

DNA methylation of tumor suppressor genes is a common feature of human cancer. The
cyclin-dependent kinase inhibitor gene p16/Ink4A is hypermethylated in a wide range of�…

Figure 1. Two kinds of insulator function.(A) Enhancer blocking: The insulator (I) prevents
Enhancer 1, belonging to gene system 1, from acting inappropriately on Promoter 2 in gene�…

While global chromatin conformation studies are emerging, very little is known about the
chromatin conformation of human telomeres. Most studies have focused on the role of�…

Human telomeres are protected from DNA damage by a nucleoprotein complex that
includes the repeat-binding factor TRF2. Here, we report that TRF2 regulates the 5�…

Objective: We investigated the link between DNA hypomethylation and clinical penetrance
in facioscapulohumeral dystrophy (FSHD) because hypomethylation is moderate and�…

Both genetic and epigenetic alterations contribute to Facio-Scapulo-Humeral Dystrophy
(FSHD), which is linked to the shortening of the array of D4Z4 repeats at the 4q35 locus. The�…

The study of the proteins that bind to telomeric DNA in mammals has provided a deep
understanding of the mechanisms involved in chromosome-end protection. However, very�…

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition
characterized by complete absence of the nose with or without ocular defects. We report�…