SHANK3 overexpression causes manic―like behaviour with unique pharmacogenetic properties
KIHOON HAN, HOLDER, J. Lloyd, PENG YU, HAO SUN, BREMAN, Amy M, PATEL, Ankita, LU, Hui-Chen, ZOGHBI, Huda Y, SCHAAF, Christian P, HUI LU, HONGMEI CHEN, HYOJIN KANG, JIANRONG TANG, ZHENYU WU, SHUANG HAO, SAU WAI CHEUNG
Published in Nature (London) (07.11.2013)
Published in Nature (London) (07.11.2013)
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Journal Article
An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function
Wang, Li, Pang, Kaifang, Han, Kihoon, Adamski, Carolyn J, Wang, Wei, He, Lingjie, Lai, Jason K, Bondar, Vitaliy V, Duman, Joseph G, Richman, Ronald, Tolias, Kimberley F, Barth, Patrick, Palzkill, Timothy, Liu, Zhandong, Holder, Jr, J Lloyd, Zoghbi, Huda Y
Published in Molecular psychiatry (01.10.2020)
Published in Molecular psychiatry (01.10.2020)
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SYNGAP1 Controls the Maturation of Dendrites, Synaptic Function, and Network Activity in Developing Human Neurons
Llamosas, Nerea, Arora, Vineet, Vij, Ridhima, Kilinc, Murat, Bijoch, Lukasz, Rojas, Camilo, Reich, Adrian, Sridharan, BanuPriya, Willems, Erik, Piper, David R, Scampavia, Louis, Spicer, Timothy P, Miller, Courtney A, Holder, J Lloyd, Rumbaugh, Gavin
Published in The Journal of neuroscience (07.10.2020)
Published in The Journal of neuroscience (07.10.2020)
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Journal Article
A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability
Wang, Li, Adamski, Carolyn J, Bondar, Vitaliy V, Craigen, Evelyn, Collette, John R, Pang, Kaifang, Han, Kihoon, Jain, Antrix, Y Jung, Sung, Liu, Zhandong, Sifers, Richard N, Holder, Jr, J Lloyd, Zoghbi, Huda Y
Published in Molecular psychiatry (01.10.2020)
Published in Molecular psychiatry (01.10.2020)
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Journal Article
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
De Rubeis, Silvia, Siper, Paige M, Durkin, Allison, Weissman, Jordana, Muratet, François, Halpern, Danielle, Trelles, Maria Del Pilar, Frank, Yitzchak, Lozano, Reymundo, Wang, A Ting, Holder, Jr, J Lloyd, Betancur, Catalina, Buxbaum, Joseph D, Kolevzon, Alexander
Published in Molecular autism (27.04.2018)
Published in Molecular autism (27.04.2018)
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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
Weldon, Monica, Kilinc, Murat, Lloyd Holder, Jr, J, Rumbaugh, Gavin
Published in Journal of neurodevelopmental disorders (05.02.2018)
Published in Journal of neurodevelopmental disorders (05.02.2018)
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Journal Article
COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders
Bolbocean, Corneliu, Rhidenour, Kayla B, McCormack, Maria, Suter, Bernhard, Holder, J Lloyd
Published in Journal of autism and developmental disorders (01.03.2023)
Published in Journal of autism and developmental disorders (01.03.2023)
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SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits
Michaelson, Sheldon D, Ozkan, Emin D, Aceti, Massimiliano, Maity, Sabyasachi, Llamosas, Nerea, Weldon, Monica, Mizrachi, Elisa, Vaissiere, Thomas, Gaffield, Michael A, Christie, Jason M, Holder, Jr, J Lloyd, Miller, Courtney A, Rumbaugh, Gavin
Published in Nature neuroscience (01.12.2018)
Published in Nature neuroscience (01.12.2018)
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Journal Article
Inflammation and Regeneration in the Dentin-Pulp Complex: A Double-edged Sword
Cooper, Paul R., BSc, Holder, Michelle J., BSc, Smith, Anthony J., BSc, PhD
Published in Journal of endodontics (01.04.2014)
Published in Journal of endodontics (01.04.2014)
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Social behavioral impairments in SYNGAP1 -related intellectual disability
Naveed, Hajer, McCormack, Maria, Holder, Jr, J Lloyd
Published in Frontiers in pediatrics (29.11.2023)
Published in Frontiers in pediatrics (29.11.2023)
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Journal Article
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.
Published in Cell (22.02.2018)
Published in Cell (22.02.2018)
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