Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

Since the discovery of the FMR1 gene and the clinical and molecular characterization of
Fragile X Syndrome in 1991, more than 141 genes have been identified in the X …

We determined that over 40 spliceosomal proteins are conserved between many fungal
species and humans but were lost during the evolution of S. cerevisiae, an intron-poor yeast …

Genes that are involved in the transcription process, mitochondrial function, glycoprotein
metabolism, and ubiquitination dominate the list of 21 new genes associated with X‐linked …

Background Molecular diagnosis of neurodevelopmental disorders (NDDs) is mainly based
on exome sequencing (ES), with a diagnostic yield of 31% for isolated and 53% for …

Poly (ADP-ribose) polymerase inhibitors (PARPis) induce DNA lesions that preferentially kill
homologous recombination (HR)-deficient breast cancers induced by BRCA mutations …

Chromosomal microdeletion syndromes present with a wide spectrum of clinical phenotypes
that depend on the size and gene content of the affected region. In a healthy carrier …

Gene duplication is a major driver of organismal evolution. One of the main mechanisms of
gene duplications is retroposition, a process in which mRNA is first transcribed into DNA and …

The review considers monogenic and chromosomal mutations associated with X-linked
intellectual disability. Peculiarities of the development of the clinical phenotype in cases of …

Despite the fact that harboring the apolipoprotein E4 (APOE4) allele represents the single
greatest risk factor for late‐onset Alzheimer's disease (AD), the exact mechanism by which …