The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1
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
“By contrast, in vitro studies of engineered heterozygous NRXN1+/− human neurons reveal robust changes in excitatory neurotransmission that are not recapitulated in matched NRXN1+/− mouse neurons12,13”
From Phenotypic complexities of rare heterozygous neurexin-1 deletions (2025) · cites this paper as [12]
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
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
Chambers, S. M., Fasano, C. A., Papapetrou, E. P., Tomishima, M., Sadelain, M., & Studer, L. (2009) · Nature Biotechnology · doi:10.1038/nbt.1529 · Cited by 3,620
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · cited 3×
“It is puzzling that many independent gene mutations were detected in schizophrenia and ASDs; nearly all of these mutations are so rare that their significance is difficult to evaluate (O’Roak et al., 2012; Sanders et al., 2012; Purcell et al., 2014; Fromer et al., 2014).”
BackgroundDe novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084
Neuroligins and neurexins link synaptic function to cognitive disease
Südhof, T. C. (2008) · Nature · doi:10.1038/nature07456 · Cited by 1,849 · cited 4×
“…the more frequently observed single-genemutations predisposing carriers to schizophrenia and ASDs, and they are additionally associated with other neuropsychiatric disorders (Südhof, 2008; Doherty et al., 2012; Clarke and Eapen, 2014; Béna et al., 2013; Ching et al., 2010; Rees et al., 2014).”
BackgroundInfluentialSelf-citationPatterns and rates of exonic de novo mutations in autism spectrum disorders
Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734
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
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
Self-citationShort-Term Presynaptic Plasticity
Regehr, W. G. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005702 · Cited by 482
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
Self-citation
Research works printed but not linked: 34
- Anderson, 2012, Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development, Proc. Natl. Acad. Sci. USA, 109, 18120, 10.1073/pnas.1216398109 · DOI
- Atasoy, 2007, Deletion of CASK in mice is lethal and impairs synaptic function, Proc. Natl. Acad. Sci. USA, 104, 2525, 10.1073/pnas.0611003104 · DOI · Paper page
- Bellin, 2012, Induced pluripotent stem cells: the new patient?, Nat. Rev. Mol. Cell Biol., 13, 713, 10.1038/nrm3448 · DOI
- Ching, 2010, Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders, Am. J. Med. Genet. B. Neuropsychiatr. Genet., 153B, 937, 10.1002/ajmg.b.31063 · DOI
- Clarke, 2014, Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control, Front. Hum. Neurosci., 8, 52, 10.3389/fnhum.2014.00052 · DOI
- Doherty, 2012, Recent genomic advances in schizophrenia, Clin. Genet., 81, 103, 10.1111/j.1399-0004.2011.01773.x · DOI
- Enggaard Hoeffding, 2014, Sequence analysis of 17 NRXN1 deletions, Am. J. Med. Genet. B. Neuropsychiatr. Genet., 165B, 52, 10.1002/ajmg.b.32204 · DOI
- Giusti-Rodríguez, 2013, The genomics of schizophrenia: update and implications, J. Clin. Invest., 123, 4557, 10.1172/JCI66031 · DOI
- Hackett, 2010, CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes, Eur. J. Hum. Genet., 18, 544, 10.1038/ejhg.2009.220 · DOI
- Hanna, 2010, Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues, Cell, 143, 508, 10.1016/j.cell.2010.10.008 · DOI
- Hata, 1996, CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins, J. Neurosci., 16, 2488, 10.1523/JNEUROSCI.16-08-02488.1996 · DOI · Paper page
- Howden, 2011, Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy, Proc. Natl. Acad. Sci. USA, 108, 6537, 10.1073/pnas.1103388108 · DOI
- Imaizumi, 2014, Modeling human neurological disorders with induced pluripotent stem cells, J. Neurochem., 129, 388, 10.1111/jnc.12625 · DOI
- Koch, 2009, A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration, Proc. Natl. Acad. Sci. USA, 106, 3225, 10.1073/pnas.0808387106 · DOI
- Kohli, 2004, Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses, Nucleic Acids Res., 32, e3, 10.1093/nar/gnh009 · DOI
- Lett, 2011, The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response, Schizophr. Res., 132, 121, 10.1016/j.schres.2011.08.007 · DOI
- Maximov, 2005, Autonomous function of synaptotagmin 1 in triggering synchronous release independent of asynchronous release, Neuron, 48, 547, 10.1016/j.neuron.2005.09.006 · DOI · Paper page
- Murdoch, 2013, Recent developments in the genetics of autism spectrum disorders, Curr. Opin. Genet. Dev., 23, 310, 10.1016/j.gde.2013.02.003 · DOI
- Najm, 2008, Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum, Nat. Genet., 40, 1065, 10.1038/ng.194 · DOI
- Pang, 2010, Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons, J. Biol. Chem., 285, 33930, 10.1074/jbc.M110.150151 · DOI
- Pang, 2011, Induction of human neuronal cells by defined transcription factors, Nature, 476, 220, 10.1038/nature10202 · DOI
- Raya, 2009, Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells, Nature, 460, 53, 10.1038/nature08129 · DOI
- Rosenmund, 1996, Definition of the readily releasable pool of vesicles at hippocampal synapses, Neuron, 16, 1197, 10.1016/S0896-6273(00)80146-4 · DOI
- Rowen, 2002, Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity, Genomics, 79, 587, 10.1006/geno.2002.6734 · DOI
- Souza, 2010, Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response, Hum. Psychopharmacol., 25, 582, 10.1002/hup.1146 · DOI
- Todarello, 2014, Incomplete penetrance of NRXN1 deletions in families with schizophrenia, Schizophr. Res., 155, 1, 10.1016/j.schres.2014.02.023 · DOI
- Ullrich, 1995, Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons, Neuron, 14, 497, 10.1016/0896-6273(95)90306-2 · DOI
- Ushkaryov, 1993, Neurexin III α: extensive alternative splicing generates membrane-bound and soluble forms, Proc. Natl. Acad. Sci. USA, 90, 6410, 10.1073/pnas.90.14.6410 · DOI
- Ushkaryov, 1992, Neurexins: synaptic cell surface proteins related to the α-latrotoxin receptor and laminin, Science, 257, 50, 10.1126/science.1621094 · DOI
- Wu, 2007, Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines, Proc. Natl. Acad. Sci. USA, 104, 13821, 10.1073/pnas.0706199104 · DOI
- Xu, 2012, Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission, Neuron, 73, 990, 10.1016/j.neuron.2011.12.036 · DOI
- Zhang, 2001, In vitro differentiation of transplantable neural precursors from human embryonic stem cells, Nat. Biotechnol., 19, 1129, 10.1038/nbt1201-1129 · DOI
- Zhang, 2013, Rapid single-step induction of functional neurons from human pluripotent stem cells, Neuron, 78, 785, 10.1016/j.neuron.2013.05.029 · DOI · Paper page
- Zou, 2009, Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells, Cell Stem Cell, 5, 97, 10.1016/j.stem.2009.05.023 · DOI
Cited by
Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits
Südhof, T. C. (2017) · Cell · doi:10.1016/j.cell.2017.10.024 · Cited by 810
Self-citationApoE2, ApoE3, and ApoE4 Differentially Stimulate APP Transcription and Aβ Secretion
Huang, Y.-W. A., Zhou, B., Wernig, M., & Südhof, T. C. (2017) · Cell · doi:10.1016/j.cell.2016.12.044 · Cited by 528
Self-citationDendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464
The cell biology of synapse formation
Südhof, T. C. (2021) · Journal of Cell Biology · doi:10.1083/jcb.202103052 · Cited by 358
Self-citationAutism-associated SHANK3 haploinsufficiency causes I h channelopathy in human neurons
Yi, F., Danko, T., Botelho, S. C., Patzke, C., Pak, C., Wernig, M., & Südhof, T. C. (2016) · Science · doi:10.1126/science.aaf2669 · Cited by 313
Self-citation
Metadata
- Authors
- Pak, C., Danko, T., Zhang, Y., Aoto, J., Anderson, G., Maxeiner, S., Yi, F., Wernig, M., & Südhof, T. C.
- Venue
- Cell Stem Cell
- Publisher
- Elsevier BV
- Published
- 2015-09
- Volume
- 17
- Issue
- 3
- Pages
- 316-328
- ISSN
- 1934-5909
- PMC
- PMC4560990
- Cited by
- 217
- References
- 16
- Language
- en
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. https://app.cochat.ai/papers/10.1016/j.stem.2015.07.017
- The paper
- Pak, C., Danko, T., Zhang, Y., Aoto, J., Anderson, G., Maxeiner, S., Yi, F., Wernig, M., & Südhof, T. C. (2015). Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1. Cell Stem Cell. https://doi.org/10.1016/j.stem.2015.07.017
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.
