Reference health
Neuronal impact of patient-specific aberrant NRXN1α splicing
80/80 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
3 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 80 checked references that resolve
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Deletions of <i>NRXN1</i> (neurexin‐1) predispose to a wide spectrum of developmental disorders
resolves10.1038/ng.3725
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
resolves10.1371/journal.pone.0052239
Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population
resolves10.1111/epi.12078
Exon‐disrupting deletions of <scp><i>NRXN1</i></scp> in idiopathic generalized epilepsy
resolves10.1038/gim.2016.54
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
resolves10.1073/pnas.0910297106
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
resolves10.1371/journal.pone.0067114
Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders
resolves10.1016/j.stem.2015.07.017
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1
resolves10.1038/mp.2015.107
Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging
resolves10.1073/pnas.1403244111
Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
resolves10.1016/j.neuron.2014.09.011
Targeted Combinatorial Alternative Splicing Generates Brain Region-Specific Repertoires of Neurexins
resolves10.7554/eLife.22757
An alternative splicing switch shapes neurexin repertoires in principal neurons versus interneurons in the mouse hippocampus
resolves10.1016/j.neuron.2015.06.028
Single-Cell mRNA Profiling Reveals Cell-Type-Specific Expression of Neurexin Isoforms
resolves10.1126/science.aaf2397
Control of neuronal synapse specification by a highly dedicated alternative splicing program
resolves10.1038/mp.2013.59
High rate of disease-related copy number variations in childhood onset schizophrenia
resolves10.1016/j.cell.2017.10.024
Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits
resolves10.1038/nature10603
Erratum: Modelling schizophrenia using human induced pluripotent stem cells
resolves10.1038/mp.2014.22
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
resolves10.1038/s41467-017-02330-5
Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains
resolves10.3791/52495
A Guide to Generating and Using hiPSC Derived NPCs for the Study of Neurological Diseases
resolves10.1186/s13073-017-0455-8
Strength of functional signature correlates with effect size in autism
resolves10.1016/j.neuron.2015.09.016
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
resolves10.1038/nn.3922
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
resolves10.1038/nn.4399
Gene expression elucidates functional impact of polygenic risk for schizophrenia
resolves10.1126/science.aad6469
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
resolves10.1016/j.neuron.2013.05.029
Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
resolves10.1016/j.ymeth.2015.11.019
Rapid Ngn2-induction of excitatory neurons from hiPSC-derived neural progenitor cells
resolves10.1016/j.cell.2013.05.060
Presynaptic Neurexin-3 Alternative Splicing trans-Synaptically Controls Postsynaptic AMPA Receptor Trafficking
resolves10.1038/nn.4037
Distinct circuit-dependent functions of presynaptic neurexin-3 at GABAergic and glutamatergic synapses
resolves10.1016/j.cell.2004.11.035
Neurexins Induce Differentiation of GABA and Glutamate Postsynaptic Specializations via Neuroligins
resolves10.1016/j.cell.2010.04.035
Trans-Synaptic Interaction of GluRδ2 and Neurexin through Cbln1 Mediates Synapse Formation in the Cerebellum
resolves10.1016/j.neuron.2013.07.016
The Specific α-Neurexin Interactor Calsyntenin-3 Promotes Excitatory and Inhibitory Synapse Development
resolves10.1016/j.neuron.2009.01.017
An Unbiased Expression Screen for Synaptogenic Proteins Identifies the LRRTM Protein Family as Synaptic Organizers
resolves10.1016/S0092-8674(00)80877-6
Neuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
resolves10.1016/j.cell.2015.06.056
β-Neurexins Control Neural Circuits by Regulating Synaptic Endocannabinoid Signaling
resolves10.1038/srep42920
Pan-neurexin perturbation results in compromised synapse stability and a reduction in readily releasable synaptic vesicle pool size
resolves10.1146/annurev-cellbio-100616-060701
Writing, Reading, and Translating the Clustered Protocadherin Cell Surface Recognition Code for Neural Circuit Assembly
resolves10.1038/nn.4536
Activity-induced histone modifications govern Neurexin-1 mRNA splicing and memory preservation
resolves10.1371/journal.pone.0018579
Dynamic Changes in Neurexins' Alternative Splicing: Role of Rho-Associated Protein Kinases and Relevance to Memory Formation
resolves10.1016/j.cell.2011.11.028
SAM68 Regulates Neuronal Activity-Dependent Alternative Splicing of Neurexin-1
resolves10.1016/j.neuron.2005.08.026
A Splice Code for trans-Synaptic Cell Adhesion Mediated by Binding of Neuroligin 1 to α- and β-Neurexins
resolves10.1016/j.neuron.2006.06.005
Alternative Splicing Controls Selective Trans-Synaptic Interactions of the Neuroligin-Neurexin Complex
resolves10.1016/j.neuron.2009.12.012
LRRTM2 Functions as a Neurexin Ligand in Promoting Excitatory Synapse Formation
resolves10.1523/JNEUROSCI.0470-10.2010
LRRTMs and Neuroligins Bind Neurexins with a Differential Code to Cooperate in Glutamate Synapse Development
resolves10.1074/jbc.M111.318659
High Affinity Neurexin Binding to Cell Adhesion G-protein-coupled Receptor CIRL1/Latrophilin-1 Produces an Intercellular Adhesion Complex
resolves10.1016/j.stemcr.2017.05.012
Taming Human Genetic Variability: Transcriptomic Meta-Analysis Guides the Experimental Design and Interpretation of iPSC-Based Disease Modeling
resolves10.1371/journal.pone.0132387
MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del
resolves10.1016/j.cell.2010.10.016
A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells
resolves10.1038/nature12618
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
resolves10.1038/nn.3307
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
resolves10.1016/j.celrep.2017.11.037
Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder
resolves10.1038/mp.2017.238
Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment
resolves10.1016/j.neuron.2010.08.016
Neurexin-Neuroligin Cell Adhesion Complexes Contribute to Synaptotropic Dendritogenesis via Growth Stabilization Mechanisms In Vivo
resolves10.1002/cne.21305
Deletion of α‐neurexins does not cause a major impairment of axonal pathfinding or synapse formation
resolves10.1073/pnas.0506580102
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
resolves10.1093/bioinformatics/btt656
featureCounts: an efficient general purpose program for assigning sequence reads to genomic features
resolves10.1186/s12859-016-1323-z
variancePartition: interpreting drivers of variation in complex gene expression studies
resolves10.1093/nar/gkv007
limma powers differential expression analyses for RNA-sequencing and microarray studies
resolves10.1093/nar/gkw377
Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
resolves10.1186/gb-2009-10-1-r3
Studying alternative splicing regulatory networks through partial correlation analysis
resolves10.1093/bioinformatics/btp612
DEGseq: an R package for identifying differentially expressed genes from RNA-seq data
resolves10.1089/neu.2015.4372
Traumatic Brain Injury Induces Alterations in Cortical Glutamate Uptake without a Reduction in Glutamate Transporter-1 Protein Expression
resolves10.1038/s41537-017-0032-6
Abnormalities of signal transduction networks in chronic schizophrenia
resolves10.3168/jds.2013-7189
Effects of AMP-activated protein kinase (AMPK) signaling and essential amino acids on mammalian target of rapamycin (mTOR) signaling and protein synthesis rates in mammary cells
The 3 references without a DOI — listed, not checked
no DOI — not checkedHarkin, L. F. et al. Neurexins 1–3 each have a distinct pattern of expression in the early developing human cerebral cortex. Cereb. Cortex 27, 1–17 (2016).
no DOI — not checkedAu, K. F., Underwood, J. G., Lee, L. & Wong, W. H. Improving PacBio long read accuracy by short read alignment. PLoS ONE 7, 1–8 (2012).
no DOI — not checkedHo, S., Topol, A. & Brennand, K. J. From ‘directed differentiation’ to ‘neuronal induction’: modeling neuropsychiatric disease. Biomark. Insights 10, 31 (2015).
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