The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
Neuronal impact of patient-specific aberrant NRXN1α splicing
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Furthermore, using patient-derived NRXN1+/− hiPSCs with unique 5’- or 3’-deletions in the gene, we uncovered wide-scale reduction in wildtype NRXN1α isoform levels and, robust expression of dozens of novel isoforms from the 3’-deletion allele only15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Overexpression of individual wildtype isoforms (WT) ameliorated reduced neuronal activity in patient-derived NRXN1+/− hiPSC-neurons in a genotype-dependent manner, whereas mutant isoform (MT) expression decreased neuronal activity levels in control hiPSC-neurons15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“suggesting that the majority of isoforms were conserved between the two cell-types, as previously reported15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Two cases sharing a ~115-kb deletion in the 5’-region of NRXN1 (5’-Del), affecting the alpha-transcript promoter, represent the LOF condition.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
In the citing paper
“Two additional cases sharing a ~136-kb deletion in the 3’-region of NRXN1 (3’-Del), impacting two alternative splice sites (SS4, SS5) across three exons (21–23), robustly express unique MT isoforms from the affected allele and therefore represent the GOF condition15.”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [15]
2 more claims about this paper
Create a free account to see every claim other papers make about this one.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
Near-optimal probabilistic RNA-seq quantification
Bray, N. L., Pimentel, H., Melsted, P., & Pachter, L. (2016) · Nature Biotechnology · doi:10.1038/nbt.3519 · Cited by 9,723
The Phyre2 web portal for protein modeling, prediction and analysis
Kelley, L. A., Mezulis, S., Yates, C. M., Wass, M. N., & Sternberg, M. J. E. (2015) · Nature Protocols · doi:10.1038/nprot.2015.053 · Cited by 9,652
Biological insights from 108 schizophrenia-associated genetic loci
Schizophrenia Working Group of the Psychiatric Genomics Consortium (2014) · Nature · doi:10.1038/nature13595 · Cited by 7,577
MAGMA: Generalized Gene-Set Analysis of GWAS Data
de Leeuw, C. A., Mooij, J. M., Heskes, T., & Posthuma, D. (2015) · PLOS Computational Biology · doi:10.1371/journal.pcbi.1004219 · Cited by 3,653
De novo mutations in schizophrenia implicate synaptic networks
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature · doi:10.1038/nature12929 · Cited by 1,617
A polygenic burden of rare disruptive mutations in schizophrenia
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature · doi:10.1038/nature12975 · Cited by 1,385
Modelling schizophrenia using human induced pluripotent stem cells
Brennand, K. J., Simone, A., Jou, J., Gelboin-Burkhart, C., Tran, N., Sangar, S., Li, Y., Mu, Y., Chen, G., Yu, D., et al. (2011) · Nature · doi:10.1038/nature09915 · Cited by 1,375
Self-citationNeuroligin Expressed in Nonneuronal Cells Triggers Presynaptic Development in Contacting Axons
Scheiffele, P., Fan, J., Choih, J., Fetter, R., & Serafini, T. (2000) · Cell · doi:10.1016/s0092-8674(00)80877-6 · Cited by 1,218
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science · doi:10.1126/science.aad6469 · Cited by 1,095
Self-citationContribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3725 · Cited by 1,058
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
The Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium (2015) · Nature Neuroscience · doi:10.1038/nn.3922 · Cited by 755
α-Neurexins couple Ca2+ channels to synaptic vesicle exocytosis
Missler, M., Zhang, W., Rohlmann, A., Kattenstroth, G., Hammer, R. E., Gottmann, K., & Südhof, T. C. (2003) · Nature · doi:10.1038/nature01755 · Cited by 699
Synaptic dysregulation in a human iPS cell model of mental disorders
Wen, Z., Nguyen, H. N., Guo, Z., Lalli, M. A., Wang, X., Su, Y., Kim, N.-S., Yoon, K.-J., Shin, J., Zhang, C., et al. (2014) · Nature · doi:10.1038/nature13716 · Cited by 549
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
Shcheglovitov, A., Shcheglovitova, O., Yazawa, M., Portmann, T., Shu, R., Sebastiano, V., Krawisz, A., Froehlich, W., Bernstein, J. A., Hallmayer, J. F., et al. (2013) · Nature · doi:10.1038/nature12618 · Cited by 470
Etherton, M. R., Blaiss, C. A., Powell, C. M., & Südhof, T. C. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910297106 · Cited by 447
Chih, B., Gollan, L., & Scheiffele, P. (2006) · Neuron · doi:10.1016/j.neuron.2006.06.005 · Cited by 393
Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing
Treutlein, B., Gokce, O., Quake, S. R., & Südhof, T. C. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1403244111 · Cited by 348
Characterization of the human ESC transcriptome by hybrid sequencing
Au, K. F., Sebastiano, V., Afshar, P. T., Durruthy, J. D., Lee, L., Williams, B. A., van Bakel, H., Schadt, E. E., Reijo-Pera, R. A., Underwood, J. G., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1320101110 · Cited by 341
Generation of pure GABAergic neurons by transcription factor programming
Yang, N., Chanda, S., Marro, S., Ng, Y.-H., Janas, J. A., Haag, D., Ang, C. E., Tang, Y., Flores, Q., Mall, M., et al. (2017) · Nature Methods · doi:10.1038/nmeth.4291 · Cited by 341
Improving PacBio Long Read Accuracy by Short Read Alignment
Au, K. F., Underwood, J. G., Lee, L., & Wong, W. H. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046679 · Cited by 335
SAM68 Regulates Neuronal Activity-Dependent Alternative Splicing of Neurexin-1
Iijima, T., Wu, K., Witte, H., Hanno-Iijima, Y., Glatter, T., Richard, S., & Scheiffele, P. (2011) · Cell · doi:10.1016/j.cell.2011.11.028 · Cited by 279
Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder
Deshpande, A., Yadav, S., Dao, D. Q., Wu, Z.-Y., Hokanson, K. C., Cahill, M. K., Wiita, A. P., Jan, Y.-N., Ullian, E. M., & Weiss, L. A. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.037 · Cited by 151
Deletion of α‐neurexins does not cause a major impairment of axonal pathfinding or synapse formation
Dudanova, I., Tabuchi, K., Rohlmann, A., Südhof, T. C., & Missler, M. (2007) · Journal of Comparative Neurology · doi:10.1002/cne.21305 · Cited by 98
Germain, P.-L., & Testa, G. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.05.012 · Cited by 94
A Guide to Generating and Using hiPSC Derived NPCs for the Study of Neurological Diseases
Topol, A., Tran, N. N., & Brennand, K. J. (2015) · Journal of Visualized Experiments · doi:10.3791/52495 · Cited by 58
Self-citation
Research works printed but not linked: 57
- Ching, M. S. L. et al. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am. J. Med. Genet. B 153, 937–947 (2010). · DOI
- Matsunami, N. et al. Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PLoS ONE 8, e52239 (2013). · DOI
- Moller, R. S. et al. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia 54, 256–264 (2013). · DOI
- Lowther, C. et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression. Genet. Med. 19, 53–61 (2017). · DOI
- Grayton, H. M., Missler, M., Collier, D. A. & Fernandes, C. Altered social behaviours in Neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders. PLoS ONE 8, e67114 (2013). · DOI · Paper page
- Pak, C. et al. Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1. Cell Stem Cell 17, 316–328 (2015). · DOI · Paper page
- Jenkins, A. K. et al. Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. Mol. Psychiatry 21, 701–706 (2016). · DOI
- Harkin, 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).
- Schreiner, D. et al. Targeted combinatorial alternative splicing generates brain region-specific repertoires of neurexins. Neuron 84, 386–398 (2014). · DOI
- Nguyen, T.-M. et al. An alternative splicing switch shapes neurexin repertoires in principal neurons versus interneurons in the mouse hippocampus. eLife 5, e22757 (2016). · DOI
- Fuccillo, M. V. et al. Single-cell mRNA profiling reveals cell-type-specific expression of neurexin isoforms. Neuron 87, 326–340 (2015). · DOI
- Traunmuller, L., Gomez, A. M., Nguyen, T.-M. & Scheiffele, P. Control of neuronal synapse specification by a highly dedicated alternative splicing program. Science 352, 982–986 (2016). · DOI · Paper page
- Ahn, K., An, S. S., Shugart, Y. Y. & Rapoport, J. L. Common polygenic variation and risk for childhood-onset schizophrenia. Mol. Psychiatry 21, 94–96 (2016). · DOI
- Ahn, K. et al. High rate of disease-related copy number variations in childhood onset schizophrenia. Mol. Psychiatry 19, 568–572 (2014). · DOI
- Sudhof, T. C. Synaptic neurexin complexes: a molecular code for the logic of neural circuits. Cell 171, 745–769 (2017). · DOI · Paper page
- Brennand, K. et al. Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia. Mol. Psychiatry 20, 361–368 (2014). · DOI · Paper page
- Hoffman, G. E. et al. Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains. Nat. Commun. 8, 2225 (2017). · DOI
- Ho, S., Topol, A. & Brennand, K. J. From ‘directed differentiation’ to ‘neuronal induction’: modeling neuropsychiatric disease. Biomark. Insights 10, 31 (2015).
- Ballouz, S. & Gillis, J. Strength of functional signature correlates with effect size in autism. Genome Med. 9, 64 (2017). · DOI
- Sanders, S. J. et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 87, 1215–1233 (2015). · DOI · Paper page
- Fromer, M. et al. Gene expression elucidates functional impact of polygenic risk for schizophrenia. Nat. Neurosci. 19, 1442–1453 (2016). · DOI · Paper page
- Steijger, T. et al. Assessment of transcript reconstruction methods for RNA-seq. Nat. Methods 10, 1177–1184 (2013). · DOI · Paper page
- Zhang, Y. et al. Rapid single-step induction of functional neurons from human pluripotent stem cells. Neuron 78, 785–798 (2013). · DOI · Paper page
- Ho, S. M. et al. Rapid Ngn2-induction of excitatory neurons from hiPSC-derived neural progenitor cells. Methods 101, 113–124 (2016). · DOI · Paper page
- Aoto, J., Martinelli, D. C., Malenka, R. C., Tabuchi, K. & Südhof, T. C. Presynaptic neurexin-3 alternative splicing trans-synaptically controls postsynaptic AMPA receptor trafficking. Cell 154, 75–88 (2013). · DOI
- Aoto, J., Földy, C., Ilcus, S. M. C., Tabuchi, K. & Südhof, T. C. Distinct circuit-dependent functions of presynaptic neurexin-3 at GABAergic and glutamatergic synapses. Nat. Neurosci. 18, 997–1007 (2015). · DOI
- Graf, E. R., Zhang, X., Jin, S.-X. X., Linhoff, M. W. & Craig, A. M. Neurexins induce differentiation of GABA and glutamate postsynaptic specializations via neuroligins. Cell 119, 1013–1026 (2004). · DOI
- Uemura, T. et al. Trans-synaptic interaction of GluRdelta2 and Neurexin through Cbln1 mediates synapse formation in the cerebellum. Cell 141, 1068–1079 (2010). · DOI · Paper page
- Pettem, K. L. et al. The specific alpha-neurexin interactor calsyntenin-3 promotes excitatory and inhibitory synapse development. Neuron 80, 113–128 (2013). · DOI
- Linhoff, M. W. et al. An unbiased expression screen for synaptogenic proteins identifies the LRRTM protein family as synaptic organizers. Neuron 61, 734–749 (2009). · DOI
- Anderson, G. R. et al. beta-neurexins control neural circuits by regulating synaptic endocannabinoid signaling. Cell 162, 593–606 (2015). · DOI
- Quinn, D. P. et al. Pan-neurexin perturbation results in compromised synapse stability and a reduction in readily releasable synaptic vesicle pool size. Sci. Rep. 7, 42920 (2017). · DOI
- Mountoufaris, G., Canzio, D., Nwakeze, C. L., Chen, W. V. & Maniatis, T. Writing, reading, and translating the clustered protocadherin cell surface recognition code for neural circuit assembly. Annu. Rev. Cell Dev. Biol. 34, 471–493 (2018). · DOI
- Ding, X. et al. Activity-induced histone modifications govern Neurexin-1 mRNA splicing and memory preservation. Nat. Neurosci. 20, 690–699 (2017). · DOI
- Rozic, G., Lupowitz, Z., Piontkewitz, Y. & Zisapel, N. Dynamic changes in neurexins’ alternative splicing: Role of rho-associated protein kinases and relevance to memory formation. PLoS ONE 6, e18579 (2011). · DOI
- Boucard, A. A., Chubykin, A. A., Comoletti, D., Taylor, P. & Sudhof, T. C. A splice code for trans-synaptic cell adhesion mediated by binding of neuroligin 1 to alpha- and beta-neurexins. Neuron 48, 229–236 (2005). · DOI · Paper page
- Ko, J., Fuccillo, M. V., Malenka, R. C. & Südhof, T. C. LRRTM2 functions as a neurexin ligand in promoting excitatory synapse formation. Neuron 64, 791–798 (2009). · DOI
- Siddiqui, T. J., Pancaroglu, R., Kang, Y., Rooyakkers, A. & Craig, A. M. LRRTMs and neuroligins bind neurexins with a differential code to cooperate in glutamate synapse development. J. Neurosci. 30, 7495–7506 (2010). · DOI
- Boucard, Aa, Ko, J. & Südhof, T. C. High affinity neurexin binding to cell adhesion G-protein-coupled receptor CIRL1/latrophilin-1 produces an intercellular adhesion complex. J. Biol. Chem. 287, 9399–9413 (2012). · DOI
- Zhao, D. et al. MicroRNA profiling of neurons generated using induced pluripotent stem cells derived from patients with schizophrenia and schizoaffective disorder, and 22q11.2 Del. PLoS ONE 10, e0132387 (2015). · DOI
- Marchetto, M. C. N. et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143, 527–539 (2010). · DOI · Paper page
- Krey, J. F. et al. Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat. Neurosci. 16, 201–209 (2013). · DOI
- Yeh, E. et al. Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment. Mol. Psychiatry 23, 1687–1698 (2018). · DOI
- Chen, S. X., Tari, P. K., She, K. & Haas, K. Neurexin–neuroligin cell adhesion complexes contribute to synaptotropic dendritogenesis via growth stabilization mechanisms in vivo. Neuron 67, 967–983 (2010). · DOI
- Roussos, P. et al. A role for noncoding variation in schizophrenia. Cell Rep. 9, 1417–1429 (2014). · DOI · Paper page
- Dobin, A. et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics 29, 15–21 (2013). · DOI · Paper page
- Liao, Y., Smyth, G. K. & Shi, W. featureCounts: an efficient general purpose program for assigning sequence reads to genomic features. Bioinformatics 30, 923–930 (2014). · DOI · Paper page
- Hoffman, G. E. & Schadt, E. E. variancePartition: interpreting drivers of variation in complex gene expression studies. BMC Bioinformatics 17, 483 (2016). · DOI · Paper page
- Newman, A. M. et al. Robust enumeration of cell subsets from tissue expression profiles. Nat. Methods 12, 453–457 (2015). · DOI · Paper page
- Ritchie, M. E. et al. Limma powers differential expression analyses for RNA-sequencing and microarray studies. Nucleic Acids Res. 43, e47 (2015). · DOI · Paper page
- Kuleshov, M. V. et al. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 44, W90–W97 (2016). · DOI · Paper page
- Chen, L. & Zheng, S. Studying alternative splicing regulatory networks through partial correlation analysis. Genome Biol. 10, R3 (2009). · DOI
- Zhu, S., Wang, G., Liu, B. & Wang, Y. Modeling exon expression using histone modifications. PLoS ONE 8, e67448 (2013). · DOI
- Wang, L., Feng, Z., Wang, X., Wang, X. & Zhang, X. DEGseq: an R package for identifying differentially expressed genes from RNA-seq data. Bioinformatics 26, 136–138 (2010). · DOI · Paper page
- Dorsett, C. R. et al. Traumatic brain injury induces alterations in cortical glutamate uptake without a reduction in glutamate transporter-1 protein expression. J. Neurotrauma 34, 220–234 (2017). · DOI
- Mcguire, J. L. et al. Abnormalities of signal transduction networks in chronic schizophrenia. NPJ Schizophr. 3, 30 (2017). · DOI
- Appuhamy, J. A. et al. 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. J. Dairy Sci. 97, 419–429 (2013). · DOI
Cited by
Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
Exposito-Alonso, D., & Rico, B. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-072820-023642 · Cited by 49
Weigel, B., Tegethoff, J. F., Grieder, S. D., Lim, B., Nagarajan, B., Liu, Y.-C., Truberg, J., Papageorgiou, D., Adrian-Segarra, J. M., Schmidt, L. K., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-01959-7 · Cited by 31
Phenotypic complexities of rare heterozygous neurexin-1 deletions
Fernando, M. B., Fan, Y., Zhang, Y., Tokolyi, A., Murphy, A. N., Kammourh, S., Deans, P. J. M., Ghorbani, S., Onatzevitch, R., Pero, A., et al. (2025) · Nature · doi:10.1038/s41586-025-08864-9 · Cited by 30
Self-citationCanals, I., Quist, E., & Ahlenius, H. (2021) · Cellular Reprogramming · doi:10.1089/cell.2021.0045 · Cited by 11
Metadata
- Authors
- Flaherty, E., Zhu, S., Barretto, N., Cheng, E., Deans, P. J. M., Fernando, M. B., Schrode, N., Francoeur, N., Antoine, A., Alganem, K., Halpern, M., Deikus, G., Shah, H., Fitzgerald, M., Ladran, I., Gochman, P., Rapoport, J., Tsankova, N. M., McCullumsmith, R., Hoffman, G. E., Sebra, R., Fang, G., & Brennand, K. J.
- Venue
- Nature Genetics
- Published
- 2019-11-29
- Volume
- 51
- Issue
- 12
- Pages
- 1679-1690
- ISSN
- 1061-4036
- 1546-1718
- PMC
- PMC7451045
- Cited by
- 132
- References
- 26
- Language
- en
- Funders
- Brain and Behavior Research Foundation
- New York Stem Cell Foundation
- U.S. Department of Health & Human Services | National Institutes of Health (MH101454, MH106056, MH112285, MH107487)
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.