Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

J Gauthier, TJ Siddiqui, P Huashan, D Yokomaku… - Human genetics, 2011 - Springer
Growing genetic evidence is converging in favor of common pathogenic mechanisms for
autism spectrum disorders (ASD), intellectual disability (ID or mental retardation) and …

Recent genomic advances in schizophrenia

JL Doherty, MC O'Donovan, MJ Owen - Clinical genetics, 2012 - Wiley Online Library
Doherty JL, O'Donovan MC, Owen MJ. Recent genomic advances in schizoprenia. Recent
studies have supported the hypothesis based upon expectations from population genetics …

Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1

CH Pak, T Danko, Y Zhang, J Aoto, G Anderson… - Cell stem cell, 2015 - cell.com
Heterozygous mutations of the NRXN1 gene, which encodes the presynaptic cell-adhesion
molecule neurexin-1, were repeatedly associated with autism and schizophrenia. However …

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

B Wiśniowiecka‐Kowalnik, M Nesteruk… - American Journal of …, 2010 - Wiley Online Library
NRXN1 is highly expressed in brain and has been shown recently to be associated with
ASD, schizophrenia, cognitive and behavioral abnormalities, and alcohol and nicotine …

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) …

Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders

MSL Ching, Y Shen, WH Tan, SS Jeste… - American Journal of …, 2010 - Wiley Online Library
Research has implicated mutations in the gene for neurexin‐1 (NRXN1) in a variety of
conditions including autism, schizophrenia, and nicotine dependence. To our knowledge …

Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders

Z Hu, X Xiao, Z Zhang, M Li - Molecular psychiatry, 2019 - nature.com
Many neuropsychiatric and neurodevelopmental disorders commonly share genetic risk
factors. To date, the mechanisms driving the pathogenesis of these disorders, particularly …

Disruption of the neurexin 1 gene is associated with schizophrenia

D Rujescu, A Ingason, S Cichon… - Human molecular …, 2009 - academic.oup.com
Deletions within the neurexin 1 gene (NRXN1; 2p16. 3) are associated with autism and have
also been reported in two families with schizophrenia. We examined NRXN1, and the …

Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

CP Schaaf, PM Boone, S Sampath, C Williams… - European Journal of …, 2012 - nature.com
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1)
gene are associated with a wide spectrum of developmental and neuropsychiatric disorders …

Genetic targeting of NRXN2 in mice unveils role in excitatory cortical synapse function and social behaviors

G Born, HM Grayton, H Langhorst… - Frontiers in synaptic …, 2015 - frontiersin.org
Human genetics has identified rare copy number variations and deleterious mutations for all
neurexin genes (NRXN1-3) in patients with neurodevelopmental diseases, and …