Abstract Development of the nervous system is carried out by complex gene expression
programs that are regulated at both transcriptional and translational level. In addition, quality …

More than half of the human genome consists of repetitive sequences, with the ribosomal
DNA (rDNA) representing two of the largest repeats. Repetitive rDNA sequences may form a …

Social isolation poses a severe mental and physiological burden on humans. Most animal
models that investigate this effect are based on prolonged isolation, which does not mimic …

Alzheimer's disease (AD) is a progressive neurodegenerative disease that accounts for a
majority of dementia cases. AD is characterized by progressive neuronal death associated …

Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the
IRF2BP family of transcriptional regulators. Currently the biological function of this gene is …

Abstract Autism Spectrum Disorder (ASD) is characterized mainly by social and sensory-
motor abnormal and repetitive behavior patterns. Over hundreds of genes and thousands of …

Next-generation sequencing has revolutionized rare disease diagnostics, but many patients
remain without a molecular diagnosis, particularly because many candidate variants usually …

Background: The global pandemic of coronavirus disease 2019 (COVID-19) is caused by
severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). About 18.4% of total Covid …

Ribosomopathies are a group of rare diseases in which genetic mutations cause defects in
either ribosome biogenesis or function, given specific phenotypes. Ribosomal proteins, and …

The UBTF E210K neuroregression syndrome is a predominantly neurological disorder
caused by recurrent de novo dominant variants in Upstream Binding Factor, that is, essential …