Affinage

NRXN1

Neurexin-1-beta · UniProt P58400

Length
472 aa
Mass
50.4 kDa
Annotated
2026-06-10
84 papers in source corpus 18 papers cited in narrative 18 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

NRXN1 encodes a presynaptic cell-adhesion molecule that organizes trans-synaptic complexes and controls neurotransmitter release (PMID:26279266, PMID:34035170). Through its LNS domains it binds postsynaptic partners including neuroligins (NLGN1, NLGN2) and LRRTM2, and truncating or missense variants that disrupt these interactions or reduce cell-surface expression fail to promote synaptic differentiation (PMID:21424692, PMID:32942984). In human neurons, heterozygous NRXN1 loss selectively impairs neurotransmitter release and reproducibly elevates the scaffolding protein CASK, a phenotype not recapitulated in mouse neurons and therefore human-specific (PMID:26279266, PMID:34035170). The functional consequences of NRXN1 disruption are deletion-context dependent: ASD-associated deletions enhance excitatory transmission and impair homeostatic synaptic scaling, whereas SCZ-associated deletions reduce both excitatory and inhibitory transmission (PMID:41865373). Beyond synaptic adhesion, NRXN1 acts during neurodevelopment, where its loss skews neural progenitor fate toward astroglia through Notch pathway dysregulation (PMID:31302032, PMID:31316548) and where it mediates thalamic axon contact to support cortical upper-layer neurogenesis [PMID:bio_10.1101_2025.04.25.650717]. NRXN1 expression levels also tune networks of synapse-related genes (PSD95, SYN1, NLGN1) that underlie learning and memory (PMID:34228999). Functional conservation is demonstrated by rescue of C. elegans nrx-1 behavioral deficits with human NRXN1 isoforms (PMID:20010541, PMID:23638761), and schizophrenia-associated 3' deletion isoforms behave as gain-of-function pathogenic variants rather than simple loss-of-function [PMID:bio_10.1101_2025.08.29.672776].

Mechanistic history

Synthesis pass · year-by-year structured walk · 11 steps
  1. 2009 Medium

    Establishing that neurexin function is evolutionarily conserved and acts in neurotransmitter signaling, by testing whether the invertebrate ortholog phenotype could be rescued by the human gene.

    Evidence C. elegans nrx-1 loss-of-function mutants with behavioral/pharmacological assays and transgenic rescue using human NRXN1 isoforms; Drosophila gain/loss-of-function with active-zone readouts

    PMID:19896112 PMID:20010541

    Open questions at the time
    • Did not define mammalian molecular partners
    • Behavioral readouts do not localize the molecular defect to specific synapses
  2. 2011 Medium

    Linking disease-associated truncating mutations to a molecular mechanism by showing they abolish binding to postsynaptic partners and synaptogenic activity.

    Evidence Neuron coculture synaptic differentiation assay and cell binding assays for LRRTM2 and NLGN2

    PMID:21424692

    Open questions at the time
    • Single lab
    • Did not test electrophysiological consequences in human neurons
  3. 2013 Medium

    Revealing a developmental role beyond synapse adhesion, that NRXN1 dosage influences neural stem cell differentiation and gliogenesis.

    Evidence shRNAmir knockdown in hiPSC- and hESC-derived neural stem cells with RNA-Seq and GFAP immunostaining; functional conservation rescue in C. elegans

    PMID:23536886 PMID:23638761

    Open questions at the time
    • Mechanism linking NRXN1 to differentiation genes not defined
    • Did not connect to synaptic phenotype
  4. 2015 High

    Isolating the core human synaptic phenotype, that heterozygous NRXN1 loss selectively impairs neurotransmitter release without altering differentiation or synapse number, and elevates CASK.

    Evidence Human ESC-derived isogenic conditional heterozygous deletion neurons with electrophysiology and CASK western blot

    PMID:26279266

    Open questions at the time
    • Causal role of elevated CASK in the release defect not established
    • Single genetic background at this stage
  5. 2019 Medium

    Defining the developmental pathway through which NRXN1 controls cell fate, placing it upstream of Notch-dependent gliogenesis.

    Evidence Patient-derived bi-allelic NRXN1-alpha deletion neural stem cells with scRNA-seq, calcium imaging, electrophysiology, and DAPT Notch-inhibitor rescue

    PMID:31302032 PMID:31316548

    Open questions at the time
    • Molecular link between NRXN1 and Notch signaling unresolved
    • Bi-allelic deletion not directly comparable to heterozygous disease state
  6. 2021 High

    Confirming the human-specificity and robustness of the release phenotype across labs and backgrounds, and dissecting how ASD versus SCZ deletions diverge functionally.

    Evidence Multicenter patient-derived and engineered iPSC neurons with electrophysiology, CASK western blot, MEA network analysis, and synaptic scaling assays; parallel Nrxn1-deficient mouse neurons

    PMID:34035170 PMID:41865373

    Open questions at the time
    • Molecular basis of the human-versus-mouse difference unknown
    • Why ASD and SCZ deletions produce opposite excitatory effects not mechanistically resolved
  7. 2021 Medium

    Connecting NRXN1 dosage to synaptic gene networks and behavior in an intact mammalian system.

    Evidence In vivo NRXN1 overexpression and shRNA knockdown in rat hippocampus and PFC, Morris water maze and social/anxiety behavioral tests, western blot/qPCR for synapse genes, and TMT proteomics

    PMID:34228999 PMID:36737720

    Open questions at the time
    • Direct versus indirect regulation of synapse genes not distinguished
    • Single lab in vivo perturbations
  8. 2023 Medium

    Showing NRXN1 deletions perturb proteostasis, splicing, and developmental trajectories in maturing human neural tissue.

    Evidence hPSC-derived forebrain organoids in isogenic and SCZ backgrounds with single-cell transcriptomics and calcium imaging

    PMID:37355690

    Open questions at the time
    • Causal hierarchy among UPS, splicing, and synaptic changes unresolved
    • Single lab
  9. 2023 Low

    Extending NRXN1 function to a defined neural circuit and a specific transsynaptic complex.

    Evidence Mouse genetic, chemogenetic/optogenetic, and behavioral epistasis experiments defining a NRXN1-CBLN1-GluD1 complex at VMHvl-to-AgRP/NPY synapses (preprint)

    PMID:36909588

    Open questions at the time
    • Preprint, single lab
    • Complex architecture not biochemically reconstituted
    • Generalizability to other synapses untested
  10. 2023 Low

    Identifying a developmental neurogenesis role in which NRXN1 mediates thalamic axon contact with outer radial glia.

    Evidence Cortical-thalamic assembloid model with single-nuclei RNA-seq, imaging, and NRXN1 genetic perturbation in thalamic neurons (preprint)

    PMID:bio_10.1101_2025.04.25.650717

    Open questions at the time
    • Preprint, novel system with limited replication
    • Postsynaptic/glial receptor mediating the contact not identified
  11. 2025 Low

    Reframing schizophrenia 3' deletion variants as actively pathogenic gain-of-function isoforms rather than simple loss-of-function, and providing cell-type-resolved isoform maps with an ASO correction strategy.

    Evidence Expression of patient-derived 3' deletion isoforms in C. elegans with behavioral and localization readouts; single-cell long-read transcriptomics and ASO targeting in hiPSC organoids (preprints)

    PMID:bio_10.1101_2025.08.29.672776 PMID:bio_10.1101_2025.11.11.687875

    Open questions at the time
    • Preprints, single labs
    • Gain-of-function mechanism of 3' deletion isoforms not defined biochemically
    • ASO rescue is proof-of-concept only

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unknown how elevated CASK mechanistically causes impaired neurotransmitter release and why this phenotype is human-specific.
  • No causal demonstration that CASK accumulation drives the release deficit
  • Molecular determinant of the human-versus-mouse divergence unidentified
  • Structural basis for context-dependent ASD/SCZ phenotypic divergence unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 3 GO:0060089 molecular transducer activity 2
Localization
GO:0005886 plasma membrane 1
Pathway
R-HSA-112316 Neuronal System 3 R-HSA-1266738 Developmental Biology 3 R-HSA-1500931 Cell-Cell communication 2
Partners
CASKCBLN1GLUD1LRRTM2NLGN1NLGN2
Complex memberships
NRXN1-CBLN1-GluD1 transsynaptic complex

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2015 Heterozygous NRXN1 mutations selectively impair neurotransmitter release in human neurons without changing neuronal differentiation or synapse formation. Both heterozygous NRXN1 mutations also increased the levels of CASK, a critical synaptic scaffolding protein that binds to neurexin-1. Human ESC-derived isogenic neurons with conditional heterozygous NRXN1 deletions; electrophysiology measuring neurotransmitter release; western blot for CASK levels Cell stem cell High 26279266
2021 Heterozygous NRXN1 deletions robustly impair synaptic function in human neurons regardless of genetic background, manifesting as decreased spontaneous synaptic events, evoked synaptic responses, and synaptic paired-pulse depression. NRXN1 deletions also produce a reproducible increase in CASK protein levels. Nrxn1-deficient mouse neurons generated by the same method did NOT exhibit impaired neurotransmitter release, suggesting a human-specific phenotype. Multicenter study using patient-derived iPSC neurons and engineered human neurons with heterozygous NRXN1 deletions; electrophysiology; western blot for CASK Proceedings of the National Academy of Sciences of the United States of America High 34035170
2011 Truncating mutations in NRXN1 result in proteins that fail to promote synaptic differentiation in neuron coculture and fail to bind either of the established postsynaptic binding partners LRRTM2 or NLGN2 in cell binding assays. Neuron coculture synaptic differentiation assay; cell binding assays for LRRTM2 and NLGN2 interactions Human genetics Medium 21424692
2020 Missense variants in the LNS4 domain of NRXN1α (D772G and R856W) reduce cell surface expression of NRXN1α. Variants T737M and D772G decrease NRXN1α-NLGN1 interaction. In silico 3D structural modeling indicated T737M and D772G destabilize the rod-shaped structure of LNS2-LNS5 domains, and D772G and R856W disturb N-glycan conformations for transport signaling. In vitro cell surface expression assay; in vitro binding assay for NRXN1α-NLGN1 interaction; in silico 3D structural modeling Journal of neurodevelopmental disorders Medium 32942984
2009 In C. elegans, nrx-1 (ortholog of human NRXN1) deficiency causes defects in exploratory capacity, sinusoidal postural movements, and gentle touch response. Behavioral defects of nrx-1 mutants involve defects in ACh and/or GABA inputs. The defective behavioral phenotypes were rescued by transgenic expression of either human alpha- or beta-NRXN1 isoforms under the nrx-1 promoter, demonstrating functional conservation. C. elegans nrx-1 loss-of-function mutants; behavioral assays (exploration, movement, touch response); pharmacological assays with aldicarb, levamisole, pentylenetetrazole; transgenic rescue with human NRXN1 isoforms Journal of visualized experiments : JoVE Medium 20010541
2013 Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments (exploratory, postural movement, touch response defects) of C. elegans nrx-1-deficient mutants, demonstrating that the functional mechanisms of neurexin are conserved between nematode and human. Transgenic rescue of C. elegans nrx-1 null mutants with human NRXN1α and NRXN1β; behavioral assays; pharmacological analysis Genes, brain, and behavior Medium 23638761
2009 In Drosophila, overexpression of fly Nrx-I (NRXN1 ortholog) can reorganize synaptic morphology, induce increased density of active zones, and determine the level of the presynaptic active-zone protein bruchpilot, indicating a role in presynaptic active zone organization. Drosophila overexpression and loss-of-function; synaptic morphology analysis; immunostaining for active zone protein bruchpilot American journal of human genetics Medium 19896112
2023 NRXN1 heterozygous deletions in both isogenic and schizophrenia patient backgrounds impact molecular pathways associated with ubiquitin-proteasome system, alternative splicing, and synaptic signaling in maturing glutamatergic and GABAergic neurons in human brain organoids. SCZ-NRXN1 deletions specifically perturbed developmental trajectories of early neural progenitors. Both deletion backgrounds led to long-lasting changes in spontaneous and synchronous neuronal networks as measured by calcium imaging. Human pluripotent stem cell-derived forebrain organoids; single-cell transcriptomics; calcium imaging of neuronal networks Nature communications Medium 37355690
2019 Cells with bi-allelic NRXN1-alpha deletion show skewed fate toward radial glia-like cell identity, higher proportion of astroglia differentiation, and neurons with significantly depressed calcium signaling activity and impaired maturation action potential profiles compared to controls. Human iPSC-derived neural stem cells from ASD patient with bi-allelic NRXN1-alpha deletion; single-cell RNA-seq; calcium imaging; electrophysiology Experimental cell research Medium 31302032
2019 NRXN1 deletion increases astrocyte differentiation in human neuroepithelial stem cells via Notch pathway dysregulation. Treatment with the Notch inhibitor DAPT reversed the altered differentiation, placing NRXN1 upstream of Notch-dependent gliogenesis. Human neuroepithelial stem cells from ASD patient with bi-allelic NRXN1 deletion; GFAP immunofluorescence; DAPT Notch inhibitor rescue experiment Frontiers in genetics Medium 31316548
2021 NRXN1 overexpression and knockdown in vivo in rats affected learning and memory, and altered expression of synapse-related genes PSD95, SYN1, GAP43, and NLGN1. NRXN1 expression changes in primary hippocampal neurons in vitro also modulated synapse-related gene expression, supporting a role for NRXN1 in maintaining synaptic plasticity. In vivo NRXN1 overexpression and shRNA knockdown in rat hippocampus; Morris water maze; western blot/qPCR for synapse genes; primary hippocampal neuron in vitro experiments Experimental neurology Medium 34228999
2023 NRXN1 downregulation in the medial prefrontal cortex of rats induced anxiety-like behaviors, abnormal social phenotypes, and impaired neurite outgrowth. Proteomic analysis revealed alterations in pathways related to extracellular matrix, cell membrane, and morphologic change. In vivo shRNA knockdown of NRXN1 in rat medial PFC; behavioral tests; TMT-based proteomics; immunoblotting Journal of neurodevelopmental disorders Medium 36737720
2023 NRXN1 mediates thalamic axon contact with primate-enriched outer radial glia in cortical-thalamic assembloids. Genetic perturbation of NRXN1 in thalamic neurons reduced these contacts and attenuated cortical upper-layer neurogenesis, revealing a role for NRXN1 in thalamus-to-cortex signaling during development. Cortical-thalamic organoid fusion (assembloid) model; single-nuclei RNA-sequencing; cellular imaging; NRXN1 genetic perturbation in thalamic neurons; quantification of outer radial glia contacts and upper-layer neurogenesis bioRxivpreprint Low bio_10.1101_2025.04.25.650717
2021 ASD-associated NRXN1 deletions selectively enhance excitatory synaptic signaling without affecting inhibitory synapses, whereas SCZ-associated NRXN1 deletions reduce both excitatory and inhibitory synaptic transmission. ASD deletions also impair homeostatic synaptic plasticity (synaptic scaling) and generate irregular firing patterns at the network level. iPSC-derived cortical neurons from ASD and SCZ patients with NRXN1 deletions; whole-cell patch clamp electrophysiology; multi-electrode array network analysis; synaptic scaling assays Cell reports Medium 41865373
2023 NRXN1 forms a transsynaptic complex with CBLN1 and GluD1 (NRXN1-CBLN1-GluD1) at VMHvl-to-arcuate AgRP/NPY neuron excitatory synapses. UBE3A impairs this synapse by decreasing Cbln1 gene expression, and heterozygous deficiency of presynaptic Nrxn1 synergizes with increased UBE3A to increase aggression. Mouse genetic models; targeted deletion experiments; chemogenetic/optogenetic circuit manipulation; behavioral aggression assays; epistasis between Ube3a, Nrxn1, and Grid1 bioRxivpreprint Low 36909588
2025 Schizophrenia-associated 3' deletion NRXN1 isoforms can produce gain-of-function behavioral phenotypes in C. elegans more severe than the nrx-1 null mutant, demonstrating that patient-derived 3' deletion variants are actively pathogenic rather than simply loss-of-function. Several isoforms also displayed aberrant accumulation in neuronal cell bodies. Expression of 8 human NRXN1 isoform variants (including 4 patient-derived 3' deletion variants) in C. elegans neurons; behavioral assays (food deprivation response, social feeding); protein localization imaging bioRxivpreprint Low bio_10.1101_2025.08.29.672776
2025 NRXN1 undergoes cell-type-specific alternative splicing in human brain, with distinct isoform repertoires in interneuron subtypes, pyramidal neurons, and glial lineages. NRXN1 isoform profiles are established during early development and remain stable during neuronal maturation. In schizophrenia patient-derived organoids with NRXN1 deletions, antisense oligonucleotide targeting of mutant splice junctions reduces gain-of-function NRXN1 isoforms in a cell-type-specific manner. Single-cell transcriptomics combined with targeted NRXN1 transcript enrichment and long-read sequencing; hiPSC cortical organoids; ASO treatment with isoform quantification bioRxivpreprint Low bio_10.1101_2025.11.11.687875
2013 NRXN1 knockdown in human neural stem cells during differentiation altered expression of cell adhesion pathway genes and neuron differentiation pathway genes. Half reduction of NRXN1 expression resulted in time-dependent reduction of astrocyte marker GFAP, reproduced in both hiPSCs and hESCs. shRNAmir-based NRXN1 knockdown in hiPSC- and hESC-derived neural stem cells; RNA-Seq transcriptome profiling; qPCR; immunostaining for GFAP PloS one Medium 23536886

Source papers

Stage 0 corpus · 84 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human molecular genetics 303 17989066
2009 CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. American journal of human genetics 269 19896112
2011 Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. Human genetics 229 21424692
2010 Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 229 20468056
2015 Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell stem cell 180 26279266
2012 Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. European journal of human genetics : EJHG 101 22617343
2011 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC medical genetics 101 21827697
2013 Investigation of NRXN1 deletions: clinical and molecular characterization. American journal of medical genetics. Part A 93 23495017
2019 Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders. Molecular psychiatry 75 31138894
2016 Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genetics in medicine : official journal of the American College of Medical Genetics 75 27195815
2021 Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons. Proceedings of the National Academy of Sciences of the United States of America 71 34035170
2008 Significant association of the neurexin-1 gene (NRXN1) with nicotine dependence in European- and African-American smokers. Human molecular genetics 71 18270208
2011 Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. American journal of medical genetics. Part A 67 21964664
2013 CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1. PloS one 64 23533600
2018 NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families. European journal of medical genetics 60 30031152
2013 Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models. PloS one 59 23536886
2012 Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 58 22337556
2013 Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 57 23294455
2019 Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. Clinical genetics 52 30873608
2023 Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. Nature communications 49 37355690
2015 Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. Molecular psychiatry 49 26216298
2019 Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. Experimental cell research 39 31302032
2013 Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. American journal of human genetics 38 23472757
2012 Mutation analysis of the NRXN1 gene in a Chinese autism cohort. Journal of psychiatric research 36 22405623
2023 Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell genomics 35 37601975
2013 Transcriptome-wide analysis of TDP-43 binding small RNAs identifies miR-NID1 (miR-8485), a novel miRNA that represses NRXN1 expression. Genomics 34 23827811
2017 Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. NPJ genomic medicine 33 28649445
2014 A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion. Molecular genetics & genomic medicine 33 25614873
2013 NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders. Journal of molecular psychiatry 32 25408897
2020 Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. Journal of neurodevelopmental disorders 31 32942984
2011 Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. Translational psychiatry 28 22832527
2019 NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. Translational psychiatry 27 31530798
2017 Mutation analysis of the NRXN1 gene in autism spectrum disorders. Balkan journal of medical genetics : BJMG 25 28289584
2009 Osmotic avoidance in Caenorhabditis elegans: synaptic function of two genes, orthologues of human NRXN1 and NLGN1, as candidates for autism. Journal of visualized experiments : JoVE 22 20010541
2020 The clinical relevance of intragenic NRXN1 deletions. Journal of medical genetics 20 31932357
2014 Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 20 24633560
2021 The protective effect and potential mechanism of NRXN1 on learning and memory in ADHD rat models. Experimental neurology 18 34228999
2013 Human alpha- and beta-NRXN1 isoforms rescue behavioral impairments of Caenorhabditis elegans neurexin-deficient mutants. Genes, brain, and behavior 17 23638761
2011 Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1. Molecular syndromology 17 22670139
2010 Rare NRXN1 promoter variants in patients with schizophrenia. Neuroscience letters 17 20347009
2013 Sequence analysis of 17 NRXN1 deletions. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 16 24339137
2011 A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population. Behavioral and brain functions : BBF 16 21477380
2011 A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism. American journal of medical genetics. Part A 16 21626680
2024 Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review. Journal of clinical medicine 15 38610832
2016 SNPs in NRXN1 and CHRNA5 are associated to smoking and regulation of GABAergic and glutamatergic pathways. Pharmacogenomics 15 27355804
2015 Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility. Journal of psychiatric research 15 25943950
2010 Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response. Human psychopharmacology 15 20860064
2015 Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. European journal of medical genetics 14 26563496
2020 NRXN1 as a novel potential target of antibody-drug conjugates for small cell lung cancer. Oncotarget 13 33062195
2018 Dysregulation of NRXN1 by mutant MIR8485 leads to calcium overload in pre-synapses inducing neurodegeneration in Multiple sclerosis. Multiple sclerosis and related disorders 13 29729524
2018 Characterization of speech and language phenotype in children with NRXN1 deletions. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 13 30358070
2011 Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. Schizophrenia research 13 21288692
2015 Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1. American journal of medical genetics. Part A 12 26590955
2014 A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. Gene 12 24440292
2023 NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat. Journal of neurodevelopmental disorders 11 36737720
2019 NRXN1 Deletion and Exposure to Methylmercury Increase Astrocyte Differentiation by Different Notch-Dependent Transcriptional Mechanisms. Frontiers in genetics 11 31316548
2010 Three-way translocation involving MLL, MLLT1, and a novel third partner, NRXN1, in a patient with acute lymphoblastic leukemia and t(2;19;11) (p12;p13.3;q23). Cancer genetics and cytogenetics 11 20113834
2023 Role of LncMALAT1-miR-141-3p/200a-3p-NRXN1 Axis in the Impairment of Learning and Memory Capacity in ADHD. Physiological research 7 38015763
2020 Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases. Genes, brain, and behavior 7 32658356
2022 Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. Clinical neurology and neurosurgery 6 35101781
2021 An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Journal of cellular and molecular medicine 6 33476483
2022 The Synaptic Gene Study: Design and Methodology to Identify Neurocognitive Markers in Phelan-McDermid Syndrome and NRXN1 Deletions. Frontiers in neuroscience 4 35250452
2022 NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review. Children (Basel, Switzerland) 4 35626875
2023 TNS1 and NRXN1 Genes Interacting With Early-Life Smoking Exposure in Asthma-Plus-Eczema Susceptibility. Allergy, asthma & immunology research 3 37957795
2021 miR-196a-2 Promotes Malignant Progression of Thyroid Carcinoma by Targeting NRXN1. Computational and mathematical methods in medicine 3 34158819
2021 Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. Brain imaging and behavior 3 34687402
2020 Unraveling Mechanisms of Patient-Specific NRXN1 Mutations in Neuropsychiatric Diseases Using Human Induced Pluripotent Stem Cells. Stem cells and development 3 32122280
2023 UBE3A and transsynaptic complex NRXN1-CBLN1-GluD1 in a hypothalamic VMHvl-arcuate feedback circuit regulates aggression. bioRxiv : the preprint server for biology 2 36909588
2021 Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping. Journal of psychiatric research 2 34487988
2025 Functional comparison of control and 3' deletion human NRXN1 isoforms in C. elegans. bioRxiv : the preprint server for biology 1 40950192
2024 NRXN1-related disorders, attempt to better define clinical assessment. Open medicine (Warsaw, Poland) 1 39655047
2022 Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1. Molecular syndromology 1 36660026
2016 One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins. Twin research and human genetics : the official journal of the International Society for Twin Studies 1 26899349
2026 Unique and overlapping behavioral effects of isoform-specific NRXN1 deletions across development. bioRxiv : the preprint server for biology 0 41648563
2026 Interval Timing Is Altered in Male Nrxn1+/- Mice: A Model of Autism Spectrum Disorder. Autism research : official journal of the International Society for Autism Research 0 41860335
2026 Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons. Cell reports 0 41865373
2026 Roles of NRXN1 in neuropsychiatric disorders: from genetic lesion to molecular mechanism. Frontiers in neuroscience 0 42211283
2025 Evidence of neurocognitive and resting state functional connectivity differences in carriers of NRXN1 deletions. Journal of neurodevelopmental disorders 0 41094379
2025 Cell-type-resolved NRXN1 isoforms across human brain tissues and hiPSC organoids. bioRxiv : the preprint server for biology 0 41293024
2022 [Prenatal diagnosis of partial deletion of NRXN1 gene with combined CNV-seq and qPCR assays]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 36317203
2019 [Analysis of NRXN1 gene deletion in an autistic patient]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 31515794
2019 Genotype Variations of rs13381800 in TCF4 Gene and rs17039988 in NRXN1 Gene among a Sample of Iranian Patients with Schizophrenia. Iranian journal of psychiatry 0 32071599
2015 [Intragenic deletions of NRXN1: three new case reports and a review of the phenotype]. Revista de neurologia 0 25710691
2015 A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis. Genetics research 0 26438105

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