Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation

Not all neuroligin 3 and 4X missense variants lead to significant functional inactivation

INTRODUCTION Neuroligins are postsynaptic cell adhesion molecules that interact with neurexins to regulate the fine balance between excitation and inhibition of synapses. Recently, accumulating evidence, involving mutation analysis, cellular assays, and mouse models, has suggested that neuroligin (NLGN) mutations affect synapse maturation and function. Previously, four missense variations [p.G4...

All roads do not lead to Rome.

REGIONAL anesthesia has evolved in recent years from a technique into an art, practiced by some pioneering anesthesiologists. As with any art form, regional anesthesia has obtained a level of complexity not seen before. Until recently, regional anesthesia was used by a select group, using sophisticated wording and techniques that prohibited its widespread implementation. However, with the devel...

Significant functional difference between TNFAIP3 truncation and missense mutants.

Functional significance of rare neuroligin 1 variants found in autism

Genetic mutations contribute to the etiology of autism spectrum disorder (ASD), a common, heterogeneous neurodevelopmental disorder characterized by impairments in social interaction, communication, and repetitive and restricted patterns of behavior. Since neuroligin3 (NLGN3), a cell adhesion molecule at the neuronal synapse, was first identified as a risk gene for ASD, several additional varia...

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

Germline inactivating mutations in BRCA1 and BRCA2 genes are responsible for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). Genetic testing of these genes is available, although approximately 15% of tests identify variants of uncertain significance (VUS). Classification of these variants into pathogenic or non-pathogenic type is an important challenge in genetic diagnosis and counseling...