NSE and S100B belong among the so-called structural proteins of the central nervous
system (CNS). Lately, this group of structural proteins has been profusely used as specific …

The RNA polymerase II complex (pol II) is responsible for transcription of all∼ 21,000
human protein-encoding genes. Here, we describe sixteen individuals harboring de novo …

Purpose Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability
with frequent epilepsy in males and females. We aimed to investigate sex-specific …

Background Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID)
and specific language impairment (SLI), with or without autistic features (MIM: 613670) …

Verheij syndrome, also called 8q24. 3 microdeletion syndrome, is a rare condition
characterized by ante-and postnatal growth retardation, microcephaly, vertebral anomalies …

The ALF transcription factor paralogs, AFF1, AFF2, AFF3, and AFF4, are components of the
transcriptional super elongation complex that regulates expression of genes involved in …

Background Genetic testing rapidly penetrates into all medical specialties and medical
students must acquire skills in this area. However, many of them consider it difficult …

Background Whole exome sequencing is a powerful tool for the analysis of genetically
heterogeneous conditions. The prioritization of variants identified often focuses on …

Fatty acyl reductases (FARs) are involved in the biosynthesis of fatty alcohols that serve a
range of biological roles. Insects typically harbor numerous FAR gene family members …

Mutations that alter signaling of RAS/MAPK-family proteins give rise to a group of Mendelian
diseases known as RASopathies. However, among RASopathies, the matrix of genotype …