Neurexins in autism and schizophrenia—a review of patient mutations, mouse models and potential future directions
A Tromp, B Mowry, J Giacomotto - Molecular psychiatry, 2021 - nature.com
Mutations in the family of neurexins (NRXN1, NRXN2 and NRXN3) have been repeatedly
identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ) …
identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ) …
Using zebrafish to model autism spectrum disorder: a comparison of ASD risk genes between zebrafish and their mammalian counterparts
V Rea, TJ Van Raay - Frontiers in molecular neuroscience, 2020 - frontiersin.org
Autism spectrum disorders (ASDs) are a highly variable and complex set of neurological
disorders that alter neurodevelopment and cognitive function, which usually presents with …
disorders that alter neurodevelopment and cognitive function, which usually presents with …
Genome-wide association study of smoking trajectory and meta-analysis of smoking status in 842,000 individuals
Here we report a large genome-wide association study (GWAS) for longitudinal smoking
phenotypes in 286,118 individuals from the Million Veteran Program (MVP) where we …
phenotypes in 286,118 individuals from the Million Veteran Program (MVP) where we …
Neurexins cluster Ca2+ channels within the presynaptic active zone
F Luo, A Sclip, M Jiang, TC Südhof - The EMBO journal, 2020 - embopress.org
To achieve ultrafast neurotransmission, neurons assemble synapses with highly organized
presynaptic and postsynaptic nanomachines that are aligned by synaptic adhesion …
presynaptic and postsynaptic nanomachines that are aligned by synaptic adhesion …
At-risk genomic findings for pediatric-onset disorders from genome sequencing vs medically actionable gene panel in proactive screening of newborns and children
Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …
recognized, its utility for proactive pediatric screening is not well explored. Objective To …
Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …
The neurodevelopmental spectrum of synaptic vesicle cycling disorders
A John, E Ng‐Cordell, N Hanna… - Journal of …, 2021 - Wiley Online Library
In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …
The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy
N Specchio, V Di Micco, M Trivisano, A Ferretti… - …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic
encephalopathy, and early interventions targeting social and cognitive deficits can have …
encephalopathy, and early interventions targeting social and cognitive deficits can have …
Genetic mechanisms of regression in autism spectrum disorder
K Tammimies - Neuroscience & Biobehavioral Reviews, 2019 - Elsevier
Developmental regression occurs in approximately one-third of children with autism
spectrum disorder (ASD). There is a strong genetic influence in ASD and hundreds of genes …
spectrum disorder (ASD). There is a strong genetic influence in ASD and hundreds of genes …
Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review
JN Cooper, J Mittal, A Sangadi, DL Klassen… - Journal of Clinical …, 2024 - mdpi.com
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition
characterized by social communication challenges and repetitive behaviors. Recent …
characterized by social communication challenges and repetitive behaviors. Recent …