Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. | Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids. Sebastian R, Jin K, Pavon N, Bansal R, Potter A, Song Y, Babu J, Gabriel R, Sun Y, Aronow B, Pak C., Free PMC Article | 06/26/2023 |
Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure. | Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure. Rhoades R, Henry B, Prichett D, Fang Y, Teng S., Free PMC Article | 06/11/2022 |
Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. | Functional abnormality in the sensorimotor system attributed to NRXN1 variants in boys with attention deficit hyperactivity disorder. Zhong Y, An L, Wang Y, Yang L, Cao Q. | 05/21/2022 |
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. | Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. Aksu Uzunhan T, Ayaz A. | 04/23/2022 |
The influence of NRXN1 on systemizing and the brain structure in healthy adults. | The influence of NRXN1 on systemizing and the brain structure in healthy adults. Shiota Y, Matsudaira I, Takeuchi H, Ono C, Tomita H, Kawashima R, Taki Y. | 04/23/2022 |
Neurexin 1 variants as risk factors for suicide death. | Neurexin 1 variants as risk factors for suicide death. William N, Reissner C, Sargent R, Darlington TM, DiBlasi E, Li QS, Keeshin B, Callor WB, Ferris E, Jerominski L, Smith KR, Christensen ED, Gray DM, Camp NJ, Missler M, Williams ME, Coon H., Free PMC Article | 03/19/2022 |
RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma. | RNA sequencing and functional studies of patient-derived cells reveal that neurexin-1 and regulators of this pathway are associated with poor outcomes in Ewing sarcoma. Roundhill EA, Chicon-Bosch M, Jeys L, Parry M, Rankin KS, Droop A, Burchill SA., Free PMC Article | 02/12/2022 |
NRXN1alpha(+/-) is associated with increased excitability in ASD iPSC-derived neurons. | NRXN1α(+/-) is associated with increased excitability in ASD iPSC-derived neurons. Avazzadeh S, Quinlan LR, Reilly J, McDonagh K, Jalali A, Wang Y, McInerney V, Krawczyk J, Ding Y, Fitzgerald J, O'Sullivan M, Forman EB, Lynch SA, Ennis S, Feerick N, Reilly R, Li W, Shen X, Yang G, Lu Y, Peeters H, Dockery P, O'Brien T, Shen S, Gallagher L., Free PMC Article | 02/5/2022 |
Copy number variants in neurexin genes: phenotypes and mechanisms. | Copy number variants in neurexin genes: phenotypes and mechanisms. Fuccillo MV, Pak C., Free PMC Article | 01/1/2022 |
Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons. | Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons. Pak C, Danko T, Mirabella VR, Wang J, Liu Y, Vangipuram M, Grieder S, Zhang X, Ward T, Huang YA, Jin K, Dexheimer P, Bardes E, Mitelpunkt A, Ma J, McLachlan M, Moore JC, Qu P, Purmann C, Dage JL, Swanson BJ, Urban AE, Aronow BJ, Pang ZP, Levinson DF, Wernig M, Südhof TC., Free PMC Article | 12/4/2021 |
Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping. | Rare NRXN1 missense variants identified in autism interfered protein degradation and Drosophila sleeping. Liu Y, Shen L, Zhang Y, Zhao R, Liu C, Luo S, Chen J, Xia L, Li T, Peng Y, Xia K. | 11/6/2021 |
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. | Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia. Ishizuka K, Yoshida T, Kawabata T, Imai A, Mori H, Kimura H, Inada T, Okahisa Y, Egawa J, Usami M, Kushima I, Morikawa M, Okada T, Ikeda M, Branko A, Mori D, Someya T, Iwata N, Ozaki N., Free PMC Article | 09/25/2021 |
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E., Free PMC Article | 09/25/2021 |
The clinical relevance of intragenic NRXN1 deletions. | The clinical relevance of intragenic NRXN1 deletions. Cosemans N, Vandenhove L, Vogels A, Devriendt K, Van Esch H, Van Buggenhout G, Olivié H, de Ravel T, Ortibus E, Legius E, Aerssens P, Breckpot J, R Vermeesch J, Shen S, Fitzgerald J, Gallagher L, Peeters H. | 06/12/2021 |
Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. | Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. Castronovo P, Baccarin M, Ricciardello A, Picinelli C, Tomaiuolo P, Cucinotta F, Frittoli M, Lintas C, Sacco R, Persico AM. | 02/6/2021 |
A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. | A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function. Lin AY, Henry S, Reissner C, Neupert C, Kenny C, Missler M, Beffert U, Ho A., Free PMC Article | 10/10/2020 |
Bi-allelic NRXN1-alpha deletion is associated with impaired neuronal functionality. | Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality. Lam M, Moslem M, Bryois J, Pronk RJ, Uhlin E, Ellström ID, Laan L, Olive J, Morse R, Rönnholm H, Louhivuori L, Korol SV, Dahl N, Uhlén P, Anderlid BM, Kele M, Sullivan PF, Falk A. | 06/20/2020 |
NRXN1-the first mutation, cytosine was replaced by thymine at position 1405 (c.1405C>T), presumably causing the replacement of proline by serine at P 469 (p.Pro469Ser) [rs7850316]; the second mutation, adenine was replaced by guanine at position 4053 (c.4053A>G), resulting in the replacement of alanine by alanine at the 1351 position (p.Ala1351Ala) [rs7997075]. Father was found carrier for c.1405C>T variant (p.Pro469Ser) | A new case of Pitt-Hopkins-like syndrome 2? Ruiz-Botero F, Gómez-Pineda E, Pachajoa H. | 04/18/2020 |
Mutations in NRXN1 (c.2686C>T, p.Arg896Trp) and NRXN2 (c.3176G>A, p.Arg1059Gln) were found in a patient with early-onset epileptic encephalopathy and respiratory depression. | Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression. Rochtus AM, Trowbridge S, Goldstein RD, Sheidley BR, Prabhu SP, Haynes R, Kinney HC, Poduri AH., Free PMC Article | 04/4/2020 |
Although rare deletions of NRXN1 have been previously associated with psychosis, this is the first report of a common SNP variant of NRXN1 associated with enlargement of the temporal horns of the lateral ventricles in psychosis. | NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. Alliey-Rodriguez N, Grey TA, Shafee R, Asif H, Lutz O, Bolo NR, Padmanabhan J, Tandon N, Klinger M, Reis K, Spring J, Coppes L, Zeng V, Hegde RR, Hoang DT, Bannai D, Nawaz U, Henson P, Liu S, Gage D, McCarroll S, Bishop JR, Hill S, Reilly JL, Lencer R, Clementz BA, Buckley P, Glahn DC, Meda SA, Narayanan B, Pearlson G, Keshavan MS, Ivleva EI, Tamminga C, Sweeney JA, Curtis D, Badner JA, Keedy S, Rapoport J, Liu C, Gershon ES., Free PMC Article | 03/14/2020 |
NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders. | Neuronal impact of patient-specific aberrant NRXN1α splicing. Flaherty E, Zhu S, Barretto N, Cheng E, Deans PJM, Fernando MB, Schrode N, Francoeur N, Antoine A, Alganem K, Halpern M, Deikus G, Shah H, Fitzgerald M, Ladran I, Gochman P, Rapoport J, Tsankova NM, McCullumsmith R, Hoffman GE, Sebra R, Fang G, Brennand KJ., Free PMC Article | 01/18/2020 |
Study revealed that the N-terminally and C-terminally tethered domains of NRXN1, L1 and L6, have a surprisingly limited range of conformational freedom with respect to the linear central core containing L2 through L5. The incorporation of the alternative splice insert SS6 relieves the restricted conformational freedom between L5 and L6, suggesting that SS6 may work as a molecular toggle. | Structural Plasticity of Neurexin 1α: Implications for its Role as Synaptic Organizer. Liu J, Misra A, Reddy MVVVS, White MA, Ren G, Rudenko G., Free PMC Article | 10/12/2019 |
the effects of rs1421589 within NRXN1, rs4844285 and rs11795613 within NLGN3, as well as rs5961397 within NLGX4X on Hirschsprung's disease phenotypes were also statistically significant. | Significance of neurexin and neuroligin polymorphisms in regulating risk of Hirschsprung's disease. Li Y, Liu H, Dong Y., Free PMC Article | 10/5/2019 |
Authors characterized speech and language phenotypes in 21 children (14 families), aged 1.8-17 years, with NRXN1 deletions. Deletions ranged from 74 to 702 kb and consisted mostly of either exons 1-3 or 1-5. Speech sound disorders were frequent (69%), although few were severe. | Characterization of speech and language phenotype in children with NRXN1 deletions. Brignell A, St John M, Boys A, Bruce A, Dinale C, Pigdon L, Hildebrand MS, Amor DJ, Morgan AT. | 09/28/2019 |
The neurexins are a family of synaptic adhesion proteins encoded by paralogous genes that play key roles in synaptic function. | Neurexin gene family variants as risk factors for autism spectrum disorder. Wang J, Gong J, Li L, Chen Y, Liu L, Gu H, Luo X, Hou F, Zhang J, Song R. | 08/10/2019 |