Membrane trafficking pathways are essential for the viability and growth of cells, and play a
major role in the interaction of cells with their environment. In this At a Glance article and …

Intellectual disability (ID) is a clinical manifestation of the central nervous system without any
major dysmorphologies of the brain. Biologically it affects learning capabilities, memory, and …

Schizophrenia (SCZ) is influenced by a combination of genetic and environmental factors.
Although several studies have been conducted to identify the causative loci and genes, few …

Primary ciliary dyskinesia (PCD) is clinically characterized by neonatal respiratory distress,
chronic sinusitis, bronchiectasis and infertility, and situs inversus in 50% of the patients. PCD …

Introduction: Improvements in sequencing technologies have helped to refine diagnosis and
patient stratification via molecular genetic testing for a number of conditions. Consequently …

We have used single-nucleotide polymorphism microarray genotyping and homozygosity-by-
descent (HBD) mapping followed by Sanger sequencing or whole-exome sequencing …

The genetic underpinnings of schizophrenia (SCZ) remain unclear. SCZ genetic studies thus
far have only identified numerous single nucleotide polymorphisms with small effect sizes …

ARL13B encodes for the ADP-ribosylation factor-like 13B GTPase, which is required for
normal cilia structure and Sonic hedgehog (Shh) signaling. Disruptions in cilia structure or …

Abstract Mis‐secreted glycoproteins (LGI1, reelin) are emerging causes of epilepsy.
LMAN2L belongs to a glycoprotein secretion chaperone family. One recessive LMAN2L …

Folding of proteins is essential so that they can exert their functions. For proteins that transit
the secretory pathway, folding occurs in the endoplasmic reticulum (ER) and various …