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Select item 102907021.

Schizophrenia-associated NRXN1 deletions induce developmental-timing- and cell-type-specific vulnerabilities in human brain organoids

Rebecca Sebastian, Kang Jin, Narciso Pavon, Ruby Bansal, Andrew Potter, Yoonjae Song, Juliana Babu, Rafael Gabriel, Yubing Sun, Bruce Aronow, ChangHui Pak

Nat Commun. 2023; 14: 3770. Published online 2023 Jun 24. doi: 10.1038/s41467-023-39420-6

PMCID:: PMC10290702

Abstract Article PDF–4.3M

Select item 91411732.

Computational Saturation Mutagenesis to Investigate the Effects of Neurexin-1 Mutations on AlphaFold Structure

Raina Rhoades, Brianna Henry, Dominique Prichett, Yayin Fang, Shaolei Teng

Genes (Basel) 2022 May; 13(5): 789. Published online 2022 Apr 28. doi: 10.3390/genes13050789

PMCID:: PMC9141173

Abstract Article PDF–1.8M

Select item 87098733.

Neurexin 1 variants as risk factors for suicide death

Nancy William, Carsten Reissner, Robert Sargent, Todd M. Darlington, Emily DiBlasi, Qingqin S. Li, Brooks Keeshin, William B. Callor, Elliott Ferris, Leslie Jerominski, Ken R. Smith, Erik D. Christensen, Douglas M. Gray, Nicola J. Camp, Markus Missler, Megan E. Williams, Hilary Coon

Mol Psychiatry. 2021; 26(12): 7436–7445. Published online 2021 Jun 25. doi: 10.1038/s41380-021-01190-2

PMCID:: PMC8709873

Abstract Article PDF–4.2M

Select item 85167924.

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

Elizabeth Ann Roundhill, Mariona Chicon-Bosch, Lee Jeys, Michael Parry, Kenneth S Rankin, Alastair Droop, Susan Ann Burchill

Cell Oncol (Dordr) 2021; 44(5): 1065–1085. Published online 2021 Aug 17. doi: 10.1007/s13402-021-00619-8

PMCID:: PMC8516792

Abstract Article PDF–5.2M

Select item 84912815.

Copy number variants in neurexin genes: phenotypes and mechanisms

Marc V Fuccillo, ChangHui Pak

Curr Opin Genet Dev. Author manuscript; available in PMC 2021 Oct 5.

Published in final edited form as: Curr Opin Genet Dev. 2021 Jun; 68: 64–70. Published online 2021 Mar 21. doi: 10.1016/j.gde.2021.02.010

PMCID:: PMC8491281

Abstract Article PDF–712K

Select item 84424366.

NRXN1α^+/- is associated with increased excitability in ASD iPSC-derived neurons

Sahar Avazzadeh, Leo R. Quinlan, Jamie Reilly, Katya McDonagh, Amirhossein Jalali, Yanqin Wang, Veronica McInerney, Janusz Krawczyk, Yicheng Ding, Jacqueline Fitzgerald, Matthew O’Sullivan, Eva B. Forman, Sally A. Lynch, Sean Ennis, Niamh Feerick, Richard Reilly, Weidong Li, Xu Shen, Guangming Yang, Yin Lu, Hilde Peeters, Peter Dockery, Timothy O’Brien, Sanbing Shen, Louise Gallagher

BMC Neurosci. 2021; 22: 56. Published online 2021 Sep 15. doi: 10.1186/s12868-021-00661-0

PMCID:: PMC8442436

Abstract Article PDF–1.6M

Select item 81792437.

Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived NRXN1-mutant neurons

ChangHui Pak, Tamas Danko, Vincent R. Mirabella, Jinzhao Wang, Yingfei Liu, Madhuri Vangipuram, Sarah Grieder, Xianglong Zhang, Thomas Ward, Yu-Wen Alvin Huang, Kang Jin, Philip Dexheimer, Eric Bardes, Alexis Mitelpunkt, Junyi Ma, Michael McLachlan, Jennifer C. Moore, Pingping Qu, Carolin Purmann, Jeffrey L. Dage, Bradley J. Swanson, Alexander E. Urban, Bruce J. Aronow, Zhiping P. Pang, Douglas F. Levinson, Marius Wernig, Thomas C. Südhof

Proc Natl Acad Sci U S A. 2021 Jun 1; 118(22): e2025598118. Published online 2021 May 25. doi: 10.1073/pnas.2025598118

PMCID:: PMC8179243

Abstract Article PDF–4.9M

Select item 79339768.

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

Cinzia Cameli, Marta Viggiano, Magali J. Rochat, Alessandra Maresca, Leonardo Caporali, Claudio Fiorini, Flavia Palombo, Pamela Magini, Renée C. Duardo, Fabiola Ceroni, Maria C. Scaduto, Annio Posar, Marco Seri, Valerio Carelli, Paola Visconti, Elena Bacchelli, Elena Maestrini

J Cell Mol Med. 2021 Mar; 25(5): 2459–2470. Published online 2021 Jan 21. doi: 10.1111/jcmm.16161

PMCID:: PMC7933976

Abstract Article PDF–1013K

Select item 78634309.

Local anesthetics impair the growth and self-renewal of glioblastoma stem cells by inhibiting ZDHHC15-mediated GP130 palmitoylation

Xiaoqing Fan, Haoran Yang, Chenggang Zhao, Lizhu Hu, Delong Wang, Ruiting Wang, Zhiyou Fang, Xueran Chen

Stem Cell Res Ther. 2021; 12: 107. Published online 2021 Feb 4. doi: 10.1186/s13287-021-02175-2

PMCID:: PMC7863430

Abstract Article PDF–6.5M

Select item 749621210.

Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia

Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Aleksic Branko, Daisuke Mori, Toshiyuki Someya, Nakao Iwata, Norio Ozaki

J Neurodev Disord. 2020; 12: 25. Published online 2020 Sep 17. doi: 10.1186/s11689-020-09325-2

PMCID:: PMC7496212

Abstract Article PDF–3.8M

Select item 745104511.

Neuronal impact of patient-specific aberrant NRXN1α splicing

Erin Flaherty, Shijia Zhu, Natalie Barretto, Esther Cheng, Michael Peter Deans, Michael Fernando, Nadine Schrode, Nancy Francoeur, Alesia Antoine, Khaled Alganem, Madeline Halpern, Gintaras Deikus, Hardik Shah, Megan Fitzgerald, Ian Ladran, Peter Gochman, Judith Rapoport, Nadejda Tsankova, Robert Mccullumsmith, Gabriel E. Hoffman, Robert Sebra, Gang Fang, Kristen J. Brennand

Nat Genet. Author manuscript; available in PMC 2020 Aug 27.

Published in final edited form as: Nat Genet. 2019 Dec; 51(12): 1679–1690. Published online 2019 Nov 29. doi: 10.1038/s41588-019-0539-z

PMCID:: PMC7451045

Abstract Article PDF–8.2M

Select item 674892112.

NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis

Ney Alliey-Rodriguez, Tamar A. Grey, Rebecca Shafee, Huma Asif, Olivia Lutz, Nicolas R. Bolo, Jaya Padmanabhan, Neeraj Tandon, Madeline Klinger, Katherine Reis, Jonathan Spring, Lucas Coppes, Victor Zeng, Rachal R. Hegde, Dung T. Hoang, Deepthi Bannai, Uzma Nawaz, Philip Henson, Siyuan Liu, Diane Gage, Steven McCarroll, Jeffrey R. Bishop, Scot Hill, James L. Reilly, Rebekka Lencer, Brett A. Clementz, Peter Buckley, David C. Glahn, Shashwath A. Meda, Balaji Narayanan, Godfrey Pearlson, Matcheri S. Keshavan, Elena I. Ivleva, Carol Tamminga, John A. Sweeney, David Curtis, Judith A. Badner, Sarah Keedy, Judith Rapoport, Chunyu Liu, Elliot S. Gershon

Transl Psychiatry. 2019; 9: 230. Published online 2019 Sep 17. doi: 10.1038/s41398-019-0564-9

PMCID:: PMC6748921

Abstract Article PDF–985K

Select item 657884913.

Structure and Evolution of Neurexophilin

Alexander G. Petrenko, Beate Ullrich, Markus Missler, Valery Krasnoperov, Thomas W. Rosahl, Thomas C. Südhof

J Neurosci. 1996 Jul 15; 16(14): 4360–4369. doi: 10.1523/JNEUROSCI.16-14-04360.1996

PMCID:: PMC6578849

Abstract Article PDF–975K

Select item 657877214.

CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins

Y Hata, S Butz, TC Sudhof

J Neurosci. 1996 Apr 15; 16(8): 2488–2494. doi: 10.1523/JNEUROSCI.16-08-02488.1996

PMCID:: PMC6578772

Abstract PDF–3.2M

Select item 646535415.

A rare autism-associated MINT2/APBA2 mutation disrupts neurexin trafficking and synaptic function

Amy Y. Lin, Shawna Henry, Carsten Reissner, Christian Neupert, Connor Kenny, Markus Missler, Uwe Beffert, Angela Ho

Sci Rep. 2019; 9: 6024. Published online 2019 Apr 15. doi: 10.1038/s41598-019-42635-7

PMCID:: PMC6465354

Abstract Article PDF–4.5M

Select item 640531316.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin-Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bucan, Susan Zeesman, Małgorzata J. M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Charles Perrine, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles Schwartz, Corrado Romano, Erik Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

Genet Med. 2019; 21(4): 816–825. Published online 2018 Sep 7. doi: 10.1038/s41436-018-0266-3

PMCID:: PMC6405313

Abstract Article PDF–1012K

Select item 639127617.

Two microcephaly-associated novel missense mutations in CASK specifically disrupt the CASK-neurexin interaction

Leslie E. W. LaConte, Vrushali Chavan, Abdallah F. Elias, Cynthia Hudson, Corbin Schwanke, Katie Styren, Jonathan Shoof, Fernando Kok, Sarika Srivastava, Konark Mukherjee

Hum Genet. Author manuscript; available in PMC 2019 Mar 1.

Published in final edited form as: Hum Genet. 2018 Mar; 137(3): 231–246. Published online 2018 Feb 9. doi: 10.1007/s00439-018-1874-3

PMCID:: PMC6391276

Abstract Article PDF–997K

Select item 637174318.

Mutations in NRXN1 and NRXN2 in a patient with early-onset epileptic encephalopathy and respiratory depression

Anne M. Rochtus, Sara Trowbridge, Richard D. Goldstein, Beth Rosen Sheidley, Sanjay P. Prabhu, Robin Haynes, Hannah C. Kinney, Annapurna H. Poduri

Cold Spring Harb Mol Case Stud. 2019 Feb; 5(1): a003442. doi: 10.1101/mcs.a003442

PMCID:: PMC6371743

Abstract Article PDF–9.2M

Select item 622365219.

Structural plasticity of neurexin 1α: implications for its role as synaptic organizer.

Jianfang Liu, Anurag Misra, Sekhar Reddy, Mark Andrew White, Gang Ren, Gabby Rudenko

J Mol Biol. Author manuscript; available in PMC 2019 Oct 19.

Published in final edited form as: J Mol Biol. 2018 Oct 19; 430(21): 4325–4343. Published online 2018 Sep 5. doi: 10.1016/j.jmb.2018.08.026

PMCID:: PMC6223652

Abstract Article PDF–2.7M

Select item 616668220.

Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei

Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck

Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924

PMCID:: PMC6166682

Abstract Article PDF–3.8M

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