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Select item 110557451.

Different pain phenotypes are associated with anti-Caspr2 autoantibodies

Patrik Greguletz, Maria Plötz, Carolin Baade-Büttner, Christian G. Bien, Katharina Eisenhut, Christian Geis, Robert Handreka, Jaqueline Klausewitz, Peter Körtvelyessy, Stjepana Kovac, Andrea Kraft, Jan Lewerenz, Michael Malter, Michael Nagel, Felix von Podewils, Harald Prüß, Anna Rada, Johanna Rau, Sebastian Rauer, Rosa Rößling, Thomas Seifert-Held, Kai Siebenbrodt, Kurt-Wolfram Sühs, Simone C. Tauber, Franziska Thaler, Judith Wagner, Jonathan Wickel, Frank Leypoldt, Heike L. Rittner, Claudia Sommer, Carmen Villmann, Kathrin Doppler, the GENERATE study group

J Neurol. 2024; 271(5): 2736–2744. Published online 2024 Feb 22. doi: 10.1007/s00415-024-12224-4

PMCID:: PMC11055745

Abstract Article PDF–1.6M

Select item 108393652.

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants

Norman Panza, Claudia Bianchini, Valentina Cetica, Simona Balestrini, Carmen Barba, Anna Rita Ferrari, Davide Mei, Lucio Parmeggiani, Elena Parrini, Renzo Guerrini

Epilepsia Open. 2024 Feb; 9(1): 417–423. Published online 2023 Dec 15. doi: 10.1002/epi4.12843

PMCID:: PMC10839365

Abstract Article PDF–3.6M

Select item 103295703.

Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

Gianluca D’Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barišić, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petković Ramadža, Ivo Barić, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Rivière, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy

Hum Genet. 2023; 142(7): 909–925. Published online 2023 May 14. doi: 10.1007/s00439-023-02552-2

PMCID:: PMC10329570

Abstract Article PDF–1.6M

Select item 95157034.

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay

Yuka Shiota, Tetsu Hirosawa, Yuko Yoshimura, Sanae Tanaka, Chiaki Hasegawa, Sumie Iwasaki, Masuhiko Sano, Kyung‐min An, Shigeru Yokoyama, Mitsuru Kikuchi

Neuropsychopharmacol Rep. 2022 Sep; 42(3): 352–355. Published online 2022 Jun 22. doi: 10.1002/npr2.12267

PMCID:: PMC9515703

Abstract Article PDF–456K

Select item 93885695.

PTPRD and CNTNAP2 as markers of tumor aggressiveness in oligodendrogliomas

Kirsi J. Rautajoki, Serafiina Jaatinen, Aliisa M. Tiihonen, Matti Annala, Elisa M. Vuorinen, Anni Kivinen, Minna J. Rauhala, Kendra K. Maass, Kristian W. Pajtler, Olli Yli-Harja, Pauli Helén, Joonas Haapasalo, Hannu Haapasalo, Wei Zhang, Matti Nykter

Sci Rep. 2022; 12: 14083. Published online 2022 Aug 18. doi: 10.1038/s41598-022-14977-2

PMCID:: PMC9388569

Abstract Article PDF–3.2M

Select item 88570416.

Shed CNTNAP2 ectodomain is detectable in the cerebrospinal fluid and regulates Ca²⁺ homeostasis and network synchrony via PMCA2/ATP2B2

M. Dolores Martin-de-Saavedra, Marc dos Santos, Lorenza Culotta, Olga Varea, Benjamin P. Spielman, Euan Parnell, Marc Forrest, Ruoqi Gao, Sehyoun Yoon, Emmarose McCoig, Hiba Jalloul, Kristoffer Myczek, Natalia Khalatyan, Elizabeth A. Hall, Liam S. Turk, Antonio Sanz-Clemente, Davide Comoletti, Stefan F. Lichtenthaler, Jeffrey Burgdorf, Maria Barbolina, Jeffrey N. Savas, Peter Penzes

Neuron. Author manuscript; available in PMC 2023 Feb 16.

Published in final edited form as: Neuron. 2022 Feb 16; 110(4): 627–643.e9. Published online 2021 Dec 17. doi: 10.1016/j.neuron.2021.11.025

PMCID:: PMC8857041

Abstract Article PDF–3.2M

Select item 86882887.

The Role of CNTNAP2 in Itch Sensation

Santosh K. Mishra

J Invest Dermatol. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: J Invest Dermatol. 2022 Jan; 142(1): 251–253. Published online 2021 Jul 24. doi: 10.1016/j.jid.2021.07.152

PMCID:: PMC8688288

Article PDF–601K

Select item 86681068.

A common variant of CNTNAP2 is associated with sub-threshold autistic traits and intellectual disability

Yuka Shiota, Tetsu Hirosawa, Yuko Yoshimura, Sanae Tanaka, Chiaki Hasegawa, Sumie Iwasaki, Kyung-min An, Daiki Soma, Masuhiko Sano, Shigeru Yokoyama, Mitsuru Kikuchi

PLoS One. 2021; 16(12): e0260548. Published online 2021 Dec 13. doi: 10.1371/journal.pone.0260548

PMCID:: PMC8668106

Abstract Article PDF–827K

Select item 86062169.

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay

Mol Genet Genomic Med. 2021 Nov; 9(11): e1645. Published online 2021 Sep 28. doi: 10.1002/mgg3.1645

PMCID:: PMC8606216

Abstract Article PDF–1.3M

Select item 841075810.

Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder

Job O. de Jong, Ceyda Llapashtica, Matthieu Genestine, Kevin Strauss, Frank Provenzano, Yan Sun, Huixiang Zhu, Giuseppe P. Cortese, Francesco Brundu, Karlla W. Brigatti, Barbara Corneo, Bianca Migliori, Raju Tomer, Steven A. Kushner, Christoph Kellendonk, Jonathan A. Javitch, Bin Xu, Sander Markx

Nat Commun. 2021; 12: 4087. Published online 2021 Sep 1. doi: 10.1038/s41467-021-24358-4

PMCID:: PMC8410758

Abstract Article PDF–3.7M

Select item 828050911.

Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder

Yi-Ling Chien, Yu-Chieh Chen, Susan Shur-Fen Gau

Neuroimage Clin. 2021; 31: 102729. Published online 2021 Jun 19. doi: 10.1016/j.nicl.2021.102729

PMCID:: PMC8280509

Abstract Article PDF–1.4M

Select item 826117912.

Association between Genetic Variants in DUSP15, CNTNAP2, and PCDHA Genes and Risk of Childhood Autism Spectrum Disorder

Fang Fang, Minxia Ge, Jun Liu, Zengyu Zhang, Hong Yu, Shuilong Zhu, Liwei Xu, Lina Shao

Behav Neurol. 2021; 2021: 4150926. Published online 2021 Jun 28. doi: 10.1155/2021/4150926

PMCID:: PMC8261179

Abstract Article PDF–366K

Select item 796311413.

Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2

Dominique Fernandes, Sandra D Santos, Ester Coutinho, Jessica L Whitt, Nuno Beltrão, Tiago Rondão, M Isabel Leite, Camilla Buckley, Hey-Kyoung Lee, Ana Luísa Carvalho

Cereb Cortex. 2019 Dec; 29(12): 4919–4931. Published online 2019 Mar 4. doi: 10.1093/cercor/bhz032

PMCID:: PMC7963114

Abstract Article PDF–1.8M

Select item 796299414.

LRRC31 inhibits DNA repair and sensitizes breast cancer brain metastasis to radiation therapy

Yanke Chen, Ting Jiang, Hongyi Zhang, Xingchun Gou, Cong Han, Jianhui Wang, Ann T. Chen, Jun Ma, Jun Liu, Zeming Chen, Xintao Jing, Hong Lei, Zhenzhen Wang, Youmei Bao, Mehdi Baqri, Yong Zhu, Ranjit S. Bindra, James E. Hansen, Jun Dou, Chen Huang, Jiangbing Zhou

Nat Cell Biol. Author manuscript; available in PMC 2021 Apr 1.

Published in final edited form as: Nat Cell Biol. 2020 Oct; 22(10): 1276–1285. Published online 2020 Oct 1. doi: 10.1038/s41556-020-00586-6

PMCID:: PMC7962994

Abstract Article PDF–5.5M

Select item 772599315.

NLR-1/CASPR anchors F-actin to promote gap junction formation

Lingfeng Meng, Dong Yan

Dev Cell. Author manuscript; available in PMC 2021 Dec 7.

Published in final edited form as: Dev Cell. 2020 Dec 7; 55(5): 574–587.e3. Published online 2020 Nov 24. doi: 10.1016/j.devcel.2020.10.020

PMCID:: PMC7725993

Abstract Article PDF–2.6M

Select item 716998316.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 713772617.

Common variant of CNTNAP2 gene modulate the social performances and functional connectivity of posterior right temporoparietal junction

Tongjian Bai, Long Zhang, Xiaohui Xie, Guixian Xiao, Wanling Huang, Dandan Li, Meidan Zu, Lin Wei, Xianbo Zuo, Gong-Jun J I, Panpan Hu, Chunyan Zhu, Bensheng Qiu, Yanghua Tian, Kai Wang

Soc Cogn Affect Neurosci. 2019 Dec; 14(12): 1297–1305. Published online 2020 Jan 28. doi: 10.1093/scan/nsaa008

PMCID:: PMC7137726

Abstract Article PDF–1.2M

Select item 704462718.

Association of GDNF and CNTNAP2 gene variants with gambling

Arundhuti Das, Luca Pagliaroli, Andrea Vereczkei, Eszter Kotyuk, Banrida Langstieh, Zsolt Demetrovics, Csaba Barta

J Behav Addict. 2019 Sep; 8(3): 471–478. Published online 2019 Aug 26. doi: 10.1556/2006.8.2019.40

PMCID:: PMC7044627

Abstract Article PDF–119K

Select item 645591019.

Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV⁺ Cortical Interneurons

Daniel Vogt, Kathleen K A Cho, Samantha M Shelton, Anirban Paul, Z Josh Huang, Vikaas S Sohal, John L R Rubenstein

Cereb Cortex. 2018 Nov; 28(11): 3868–3879. Published online 2017 Sep 28. doi: 10.1093/cercor/bhx248

PMCID:: PMC6455910

Abstract Article PDF–1.3M

Select item 632481920.

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders

Claudio Toma, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Philip B. Mitchell, Peter R. Schofield, Janice M. Fullerton

PLoS Genet. 2018 Dec; 14(12): e1007535. Published online 2018 Dec 26. doi: 10.1371/journal.pgen.1007535

PMCID:: PMC6324819

Abstract Article PDF–1.3M

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