Phenotypic spectrum of NRXN1 mono‐ and bi‐allelic deficiency: A systematic review
P Castronovo, M Baccarin, A Ricciardello… - Clinical …, 2020 - Wiley Online Library
Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and
vesicular neurotransmitter release. They are encoded by three genes (NRXN1‐3), each …
vesicular neurotransmitter release. They are encoded by three genes (NRXN1‐3), each …
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage
One fundamental but understudied mechanism of gene regulation in disease is allele-
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
specific expression (ASE), the preferential expression of one allele. We leveraged RNA …
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
B Abu-Libdeh, M Ashhab, M Shahrour, M Daana… - neurogenetics, 2019 - Springer
Regulation of neuronal connectivity and synaptic communication are key to proper
functioning of the brain. The Netrin-G subfamily and their cognate receptors are vertebrate …
functioning of the brain. The Netrin-G subfamily and their cognate receptors are vertebrate …
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion
M Viñas‐Jornet, S Esteba‐Castillo… - Molecular genetics & …, 2014 - Wiley Online Library
Abstract Deletions in the 2p16. 3 region that includes the neurexin (NRXN1) gene are
associated with intellectual disability and various psychiatric disorders, in particular, autism …
associated with intellectual disability and various psychiatric disorders, in particular, autism …
NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series–further understanding of the relevance of NRXN1 to …
Background Microdeletions in the NRXN1 gene have been associated with a range of
neurodevelopmental disorders, including autism spectrum disorders, schizophrenia …
neurodevelopmental disorders, including autism spectrum disorders, schizophrenia …
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
F Béna, DL Bruno, M Eriksson… - American Journal of …, 2013 - Wiley Online Library
This study aimed to elucidate the observed variable phenotypic expressivity associated with
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …
NRXN1 (Neurexin 1) haploinsufficiency by analyses of the largest cohort of patients with …
Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1)
gene are associated with a wide spectrum of developmental and neuropsychiatric disorders …
gene are associated with a wide spectrum of developmental and neuropsychiatric disorders …
Disruption of the neurexin 1 gene is associated with schizophrenia
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 …
also been reported in two families with schizophrenia. We examined NRXN1, and the …
High frequency of neurexin 1β signal peptide structural variants in patients with autism
J Feng, R Schroer, J Yan, W Song, C Yang… - Neuroscience …, 2006 - Elsevier
Neuroligins are postsynaptic membrane cell-adhesion molecules which bind to β-neurexins,
a family of proteins that act as neuronal cell surface receptors. To explore the possibility that …
a family of proteins that act as neuronal cell surface receptors. To explore the possibility that …
Complex interactions between genes and social environment cause phenotypes associated with autism spectrum disorders in mice
M Sledziowska, S Kalbassi, SJ Baudouin - eneuro, 2020 - eneuro.org
The etiology of autism spectrum disorders (ASDs) is a complex combination of genetic and
environmental factors. Neuroligin3, a synaptic adhesion protein, and cytoplasmic FMR1 …
environmental factors. Neuroligin3, a synaptic adhesion protein, and cytoplasmic FMR1 …