Telomeres, the dynamic nucleoprotein structures at the ends of linear chromosomes,
maintain the genomic integrity of a cell. Telomere length shortens with age due to the …

Background: Telomeres shorten with each cell division and are essential for chromosomal
stability. Short telomeres in surrogate tissues (eg, blood cells) are associated with increased …

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome and telomere
biology disorder characterized by dysplastic nails, reticular skin pigmentation and oral …

A set of glutamylases and deglutamylases controls levels of tubulin polyglutamylation, a
prominent post‐translational modification of neuronal microtubules. Defective tubulin …

Chromatin remodeling is of crucial importance during brain development. Pathogenic
alterations of several chromatin remodeling ATPases have been implicated in …

Signal transduction through the RAF-MEK-ERK pathway, the first described mitogen-
associated protein kinase (MAPK) cascade, mediates multiple cellular processes and …

Li-Fraumeni syndrome (LFS) is a rare dominantly inherited cancer predisposition syndrome
that was first described in 1969. In most families, it is caused by germline mutations in the …

We identified individuals with variations in ACTL6B, a component of the chromatin
remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males
who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense …