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Select item 95662621.

Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression

Chi-Fen Chang, Shu-Pin Huang, Yu-Mei Hsueh, Jiun-Hung Geng, Chao-Yuan Huang, Bo-Ying Bao

Int J Environ Res Public Health. 2022 Oct; 19(19): 12471. Published online 2022 Sep 30. doi: 10.3390/ijerph191912471

PMCID:: PMC9566262

Abstract Article PDF–1.6M

Select item 90258812.

Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder

Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani

Genes (Basel) 2022 Apr; 13(4): 688. Published online 2022 Apr 14. doi: 10.3390/genes13040688

PMCID:: PMC9025881

Abstract Article PDF–1.6M

Select item 78228373.

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, Volker Eckstein, Gudrun A. Rappold, Simone Berkel

Sci Rep. 2021; 11: 2128. Published online 2021 Jan 22. doi: 10.1038/s41598-021-81241-4

PMCID:: PMC7822837

Abstract Article PDF–3.7M

Select item 75451404.

Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma

Gonzalo Lopez, Karina L. Conkrite, Miriam Doepner, Komal S. Rathi, Apexa Modi, Zalman Vaksman, Lance M. Farra, Eric Hyson, Moataz Noureddine, Jun S. Wei, Malcolm A. Smith, Shahab Asgharzadeh, Robert C. Seeger, Javed Khan, Jaime Guidry Auvil, Daniela S. Gerhard, John M. Maris, Sharon J. Diskin

Genome Res. 2020 Sep; 30(9): 1228–1242. doi: 10.1101/gr.252106.119

PMCID:: PMC7545140

Abstract Article PDF–15M

Select item 64755975.

SHANK2 mutations associated with Autism Spectrum Disorder cause hyperconnectivity of human neurons

Kirill Zaslavsky, Wen-Bo Zhang, Fraser P. McCready, Deivid C. Rodrigues, Eric Deneault, Caitlin Loo, Melody Zhao, P. Joel Ross, Joelle El Hajjar, Asli Romm, Tadeo Thompson, Alina Piekna, Wei Wei, Zhuozhi Wang, Shahryar Khattak, Marat Mufteev, Peter Pasceri, Stephen W. Scherer, Michael W. Salter, James Ellis

Nat Neurosci. Author manuscript; available in PMC 2019 Sep 25.

Published in final edited form as: Nat Neurosci. 2019 Apr; 22(4): 556–564. Published online 2019 Mar 25. doi: 10.1038/s41593-019-0365-8

PMCID:: PMC6475597

Abstract Article PDF–1.3M

Select item 46536116.

Identification and functional characterization of rare SHANK2 variants in schizophrenia

S Peykov, S Berkel, M Schoen, K Weiss, F Degenhardt, J Strohmaier, B Weiss, C Proepper, G Schratt, M M Nöthen, T M Boeckers, M Rietschel, G A Rappold

Mol Psychiatry. 2015 Dec; 20(12): 1489–1498. Published online 2015 Jan 6. doi: 10.1038/mp.2014.172

PMCID:: PMC4653611

Abstract Article PDF–800K

Select item 32762777.

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

Simone Berkel, Wannan Tang, Mario Treviño, Miriam Vogt, Horst Andreas Obenhaus, Peter Gass, Stephen Wayne Scherer, Rolf Sprengel, Gerhard Schratt, Gudrun Anna Rappold

Hum Mol Genet. 2012 Jan 15; 21(2): 344–357. Published online 2011 Oct 12. doi: 10.1093/hmg/ddr470

PMCID:: PMC3276277

Abstract Article PDF–720K

Select item 106419578.

Expression profiles of the autism-related SHANK proteins in the human brain

Sarah Woelfle, Maria T. Pedro, Jan Wagner, Michael Schön, Tobias M. Boeckers

BMC Biol. 2023; 21: 254. Published online 2023 Nov 13. doi: 10.1186/s12915-023-01712-0

PMCID:: PMC10641957

Abstract Article PDF–4.7M

Select item 73333939.

meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes

Diana M. Ciuculete, Sarah Voisin, Lara Kular, Jörgen Jonsson, Mathias Rask-Andersen, Jessica Mwinyi, Helgi B. Schiöth

Clin Epigenetics. 2020; 12: 99. Published online 2020 Jul 2. doi: 10.1186/s13148-020-00884-8

PMCID:: PMC7333393

Abstract Article PDF–1.4M

Select item 590515910.

A direct regulatory link between microRNA-137 and SHANK2: implications for neuropsychiatric disorders

Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A. Rappold

J Neurodev Disord. 2018; 10: 15. Published online 2018 Apr 17. doi: 10.1186/s11689-018-9233-1

PMCID:: PMC5905159

Abstract Article PDF–893K

Select item 503365311.

Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness

Oliver R Homann, Kira Misura, Edwin Lamas, Robert W Sandrock, Paul Nelson, Stefan I McDonough, Lynn E DeLisi

Mol Psychiatry. Author manuscript; available in PMC 2016 Nov 17.

Published in final edited form as: Mol Psychiatry. 2016 Dec; 21(12): 1690–1695. Published online 2016 Mar 22. doi: 10.1038/mp.2016.24

PMCID:: PMC5033653

Abstract Article PDF–468K

Select item 415464412.

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Claire S. Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M. Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I. Carina Gillberg, Gudrun A. Rappold, Richard Holt, Anthony P. Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J. Schmeisser, Tobias M. Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W. Scherer, Guy A. Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron

PLoS Genet. 2014 Sep; 10(9): e1004580. Published online 2014 Sep 4. doi: 10.1371/journal.pgen.1004580

PMCID:: PMC4154644

Abstract Article PDF–2.2M

Select item 405915513.

Serum- and Glucocorticoid-induced Protein Kinase 1 (SGK1) Increases the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in Airway Epithelial Cells by Phosphorylating Shank2E Protein

Katja Koeppen, Bonita A. Coutermarsh, Dean R. Madden, Bruce A. Stanton

J Biol Chem. 2014 Jun 13; 289(24): 17142–17150. Published online 2014 May 8. doi: 10.1074/jbc.M114.555599

PMCID:: PMC4059155

Abstract Article PDF–1.6M

Select item 327656314.

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Claire S. Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I. Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P. Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A. Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M. Klauck, Fritz Poustka, Christine M. Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F. Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W. Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M. Boeckers, Thomas Bourgeron

PLoS Genet. 2012 Feb; 8(2): e1002521. Published online 2012 Feb 9. doi: 10.1371/journal.pgen.1002521

PMCID:: PMC3276563

Abstract Article PDF–1.0M

Select item 400324715.

ProSAP1 and membrane nanodomain-associated syndapin I promote postsynapse formation and function

Katharina Schneider, Eric Seemann, Lutz Liebmann, Rashmi Ahuja, Dennis Koch, Martin Westermann, Christian A. Hübner, Michael M. Kessels, Britta Qualmann

J Cell Biol. 2014 Apr 28; 205(2): 197–215. doi: 10.1083/jcb.201307088

PMCID:: PMC4003247

Abstract Article PDF–5.0M

Select item 358250316.

Lack of Association between NLGN3, NLGN4, SHANK2 and SHANK3 Gene Variants and Autism Spectrum Disorder in a Chinese Population

Yanyan Liu, Yasong Du, Wenwen Liu, Caohua Yang, Yan Liu, Hongyan Wang, Xiaohong Gong

PLoS One. 2013; 8(2): e56639. Published online 2013 Feb 26. doi: 10.1371/journal.pone.0056639

PMCID:: PMC3582503

Abstract Article PDF–384K

Select item 10917017.

Identification of a Novel Cortactin SH3 Domain-Binding Protein and Its Localization to Growth Cones of Cultured Neurons

Yunrui Du, Scott A. Weed, Wen-Cheng Xiong, Trudy D. Marshall, J. Thomas Parsons

Mol Cell Biol. 1998 Oct; 18(10): 5838–5851. doi: 10.1128/mcb.18.10.5838

PMCID:: PMC109170

Abstract Article PDF–1.5M

Select item 302179818.

Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder

Dalila Pinto, Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R. Magalhaes, Catarina Correia, Brett S. Abrahams, Joana Almeida, Elena Bacchelli, Gary D. Bader, Anthony J. Bailey, Gillian Baird, Agatino Battaglia, Tom Berney, Nadia Bolshakova, Sven Bölte, Patrick F. Bolton, Thomas Bourgeron, Sean Brennan, Jessica Brian, Susan E. Bryson, Andrew R. Carson, Guillermo Casallo, Jillian Casey, Lynne Cochrane, Christina Corsello, Emily L. Crawford, Andrew Crossett, Geraldine Dawson, Maretha de Jonge, Richard Delorme, Irene Drmic, Eftichia Duketis, Frederico Duque, Annette Estes, Penny Farrar, Bridget A. Fernandez, Ana Filipa, Susan E. Folstein, Eric Fombonne, Christine M. Freitag, John Gilbert, Christopher Gillberg, Joseph T. Glessner, Jeremy Goldberg, Andrew Green, Jonathan Green, Stephen J. Guter, Hakon Hakonarson, Elizabeth A. Heron, Matthew Hill, Richard Holt, Jennifer L. Howe, Gillian Hughes, Vanessa Hus, Roberta Igliozzi, Cecilia Kim, Sabine M. Klauck, Alexander Kolevzon, Olena Korvatska, Vlad Kustanovich, Clara M. Lajonchere, Janine A. Lamb, Magdalena Laskawiec, Marion Leboyer, Ann Le Couteur, Bennett L. Leventhal, Anath C. Lionel, Xiao-Qing Liu, Catherine Lord, Linda Lotspeich, Sabata C. Lund, Elena Maestrini, William Mahoney, Carine Mantoulan, Christian R. Marshall, Helen McConachie, Christopher J. McDougle, Jane McGrath, William M. McMahon, Alison Merikangas, Ohsuke Migita, Nancy J. Minshew, Ghazala K. Mirza, Jeff Munson, Stanley F. Nelson, Carolyn Noakes, Abdul Noor, Gudrun Nygren, Guiomar Oliveira, Katerina Papanikolaou, Jeremy R. Parr, Barbara Parrini, Tara Paton, Andrew Pickles, Marion Pilorge, Joseph Piven, Chris P. Ponting, David J. Posey, Annemarie Poustka, Fritz Poustka, Aparna Prasad, Jiannis Ragoussis, Katy Renshaw, Jessica Rickaby, Wendy Roberts, Kathryn Roeder, Bernadette Roge, Michael L. Rutter, Laura J. Bierut, John P. Rice, SAGE Consortium, Jeff Salt, Katherine Sansom, Daisuke Sato, Ricardo Segurado, Lili Senman, Naisha Shah, Val C. Sheffield, Latha Soorya, Inês Sousa, Olaf Stein, Vera Stoppioni, Christina Strawbridge, Raffaella Tancredi, Katherine Tansey, Bhooma Thiruvahindrapduram, Ann P. Thompson, Susanne Thomson, Ana Tryfon, John Tsiantis, Herman Van Engeland, John B. Vincent, Fred Volkmar, Simon Wallace, Kai Wang, Zhouzhi Wang, Thomas H. Wassink, Caleb Webber, Kirsty Wing, Kerstin Wittemeyer, Shawn Wood, Jing Wu, Brian L. Yaspan, Danielle Zurawiecki, Lonnie Zwaigenbaum, Joseph D. Buxbaum, Rita M. Cantor, Edwin H. Cook, Hilary Coon, Michael L. Cuccaro, Bernie Devlin, Sean Ennis, Louise Gallagher, Daniel H. Geschwind, Michael Gill, Jonathan L. Haines, Joachim Hallmayer, Judith Miller, Anthony P. Monaco, John I. Nurnberger, Jr., Andrew D. Paterson, Margaret A. Pericak-Vance, Gerard D. Schellenberg, Peter Szatmari, Astrid M. Vicente, Veronica J. Vieland, Ellen M. Wijsman, Stephen W. Scherer, James S. Sutcliffe, Catalina Betancur

Nature. Author manuscript; available in PMC 2011 Jan 16.

Published in final edited form as: Nature. 2010 Jul 15; 466(7304): 368–372. Published online 2010 Jun 9. doi: 10.1038/nature09146

PMCID:: PMC3021798

Abstract Article PDF–458K

Select item 377221619.

SHANK3 Gene Mutations Associated with Autism Facilitate Ligand Binding to the Shank3 Ankyrin Repeat Region

Marie Germaine Mameza, Elena Dvoretskova, Margarete Bamann, Hans-Hinrich Hönck, Türkan Güler, Tobias M. Boeckers, Michael Schoen, Chiara Verpelli, Carlo Sala, Igor Barsukov, Alexander Dityatev, Hans-Jürgen Kreienkamp

J Biol Chem. 2013 Sep 13; 288(37): 26697–26708. Published online 2013 Jul 29. doi: 10.1074/jbc.M112.424747

PMCID:: PMC3772216

Abstract Article PDF–4.1M

Select item 283296120.

βPix Up-regulates Na⁺/H⁺ Exchanger 3 through a Shank2-mediated Protein-Protein Interaction

Jung-Soo Lee, Young Mee Lee, Joo Young Kim, Hyun Woo Park, Sergio Grinstein, John Orlowski, Eunjoon Kim, Kyung Hwan Kim, Min Goo Lee

J Biol Chem. 2010 Mar 12; 285(11): 8104–8113. Published online 2010 Jan 15. doi: 10.1074/jbc.M109.055079

PMCID:: PMC2832961

Abstract Article PDF–3.2M

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