Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, DuPont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, Schwartz, Charles E·2013·European Journal of Human Genetics
Cited by (243)
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- Therapeutic approaches for shankopathiesXiaoming Wang, Alexandra L. Bey, Leeyup Chung, Andrew D. Krystal, Yong‐hui Jiang · 2013 · Developmental Neurobiology
- Tandospirone, a Partial 5-HT1A Receptor Agonist, Administered Systemically or Into Anterior Cingulate Attenuates Repetitive Behaviors in Shank3B MiceJeffrey T. Dunn, Jessica Mroczek, Harshkumar Patel, Michael E. Ragozzino · 2020 · The International Journal of Neuropsychopharmacology
- Targeting of δ-catenin to postsynaptic sites through interaction with the Shank3 N-terminusFatemeh Hassani Nia, Daniel Woike, Victoria Martens, Malte Klüssendorf, Hans‐Hinrich Hönck, Sönke Harder, Hans‐Jürgen Kreienkamp · 2020 · Molecular Autism
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- Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental FactorsLaila Cigana Schenkel, David I. Rodenhiser, Victoria Mok Siu, Elizabeth McCready, Peter Ainsworth, Bekim Sadiković · 2016 · Journal of Pediatric Genetics
- Environmental enrichment modulates affiliative and aggressive social behaviour in the neuroligin-3 R451C mouse model of autism spectrum disorderEmma L. Burrows, Lynn Koyama, C. May, Elisa L. Hill‐Yardin, Anthony John Hannan · 2020 · Pharmacology Biochemistry and Behavior
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- Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief reviewMin Huang, Qi Qi, Tao Xu · 2023 · Frontiers in Molecular Neuroscience
- Mouse models as a tool for discovering new neurological diseasesQiumin Tan, Huda Yahya Zoghbi · 2018 · Neurobiology of Learning and Memory
- Functional Relevance of Missense Mutations Affecting the N-Terminal Part of Shank3 Found in Autistic PatientsFatemeh Hassani Nia, Hans‐Jürgen Kreienkamp · 2018 · Frontiers in Molecular Neuroscience
- Restoring thalamocortical circuit dysfunction by correcting HCN channelopathy in Shank3 mutant miceBaolin Guo, Tiaotiao Liu, Soonwook Choi, Honghui Mao, Wenting Wang, Kaiwen Xi, Carter Jones, Nolan D. Hartley, Dayun Feng, Qian Chen et al. · 2024 · Cell Reports Medicine
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- Case report: an unexpected link between partial deletion of the SHANK3 gene and Heller’s dementia infantilis, a rare subtype of autism spectrum disorderAnne Philippe, Yann Craus, Marlène Rio, Nadia Bahi‐Buisson, Nathalie Boddaert, Valérie Malan, Jean‐Paul Bonnefont, Laurence Robel · 2015 · BMC Psychiatry
- Sensitivity to isoflurane anesthesia increases in autism spectrum disorder Shank3+/∆c mutant mouse modelChangsheng Li, Michele L. Schaefer, Christy Gray, Ya Yang, Orion Furmanski, Sufang Liu, Paul F. Worley, Cyrus David Mintz, Feng Tao, Roger A. Johns · 2016 · Neurotoxicology and Teratology
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- The Medial Prefrontal Cortex-Basolateral Amygdala Circuit Mediates Anxiety in Shank3 InsG3680 Knock-in MiceJiabin Feng, Xiaojun Wang, Meidie Pan, Chenxi Li, Zhe Zhang, Meng Sun, Tailin Liao, Ziyi Wang, Jianhong Luo, Lei Shi et al. · 2024 · Neuroscience Bulletin
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- Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid SyndromeBrianna Dyar, Erika L. Meaddough, Sara M. Sarasua, Curtis R. Rogers, Katy Phelan, Luigi Boccuto · 2021 · Genes
- Continuous high-frequency deep brain stimulation of the anterior insula modulates autism-like behavior in a valproic acid-induced rat modelLifei Xiao, Shucai Jiang, Yangyang Wang, Caibin Gao, Cuicui Liu, Xianhao Huo, Wenchao Li, Baorui Guo, Chaofan Wang, Yu Sun et al. · 2022 · Journal of Translational Medicine
- Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disordersDaniel Woike, Emily Wang, Debora Tibbe, Fatemeh Hassani Nia, Antonio Virgilio Failla, Maria Kibæk, Tinett Martesen Overgård, Martin Jakob Larsen, Christina Ringmann Fagerberg, Igor Barsukov et al. · 2022 · Scientific Reports
- Expression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat ModelsYanke Zhang, Baobing Gao, Yan Xiong, Fangshuo Zheng, Xin Xu, Yong Yang, Yida Hu, Xuefeng Wang · 2016 · Cellular and Molecular Neurobiology
- SHANK1 polymorphisms and SNP–SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant ageShuang Qiu, Yan Li, Ye Bai, Jikang Shi, Heran Cui, Yulu Gu, Yaxuan Ren, Qian Zhao, Kaixin Zhang, Meihan Lu et al. · 2019 · Autism Research
- Autism Spectrum Disorder: The Cerebellum, Genes, and PathwaysSantosh R. D’Mello · 2025 · Neurology International
- Autism-associated gene shank3 is necessary for social contagion in zebrafishKyriacos Kareklas, Magda C. Teles, Elena Dreosti, Rui F. Oliveira · 2023 · Molecular Autism
- Trans-synaptic Association of Vesicular Zinc Transporter 3 and Shank3 Supports Synapse-Specific Dendritic Spine Structure and Function in the Mouse Auditory CortexAbbey Manning, Philip T R Bender, Helen Boyd-Pratt, Benjamin Z. Mendelson, Martin Hruska, Charles T. Anderson · 2024 · Journal of Neuroscience
- Glutamatergic agents in Autism Spectrum Disorders: Current trendsRoberto Canitano, Valeria Scandurra · 2014 · Research in Autism
- SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literatureFarah Kanani, Ddd Study, Meena Balasubramanian · 2018 · Clinical Dysmorphology
- Increased rates of cerebral protein synthesis in Shank3 knockout mice: Implications for a link between synaptic protein deficit and dysregulated protein synthesis in autism spectrum disorder/intellectual disabilityAnita Torossian, Rachel Michelle Saré, Inna Loutaev, Carolyn Beebe Smith · 2020 · Neurobiology of Disease
- Intranasal oxytocin in a genetic animal model of autismJakub Szabó, Matúš Mlynár, Andrej Feješ, Emese Renczés, Veronika Borbélyová, Daniela Ostatníková, Peter Celec · 2023 · Molecular Psychiatry
- Apparent Genetic Rescue of AdultShank3Exon 21 Insertion Mutation Mice Tempered by Appropriate Control ExperimentsHaley E. Speed, Mehreen Kouser, Zhong Xuan, Shunan Liu, Anne A. Duong, Craig M. Powell · 2019 · eNeuro
- SHANK3 Mutations Associated with Autism and Schizophrenia Lead to Shared and Distinct Changes in Dendritic Spine Dynamics in the Developing Mouse BrainChengyu Huang, Mikayla M. Voglewede, Elif Naz Ozsen, Hui Wang, Huaye Zhang · 2023 · Neuroscience
- Genomics as a Clinical Decision Support Tool: Successful Proof of Concept for Improved ASD OutcomesHeather Way, Grant E. Williams, Sharon Hausman-Cohen, Jordan Reeder · 2021 · Journal of Personalized Medicine
- The Endocannabinoids-Microbiota Partnership in Gut-Brain Axis Homeostasis: Implications for Autism Spectrum DisordersRoberto Coccurello, Maria Cristina Marrone, Mauro Maccarrone · 2022 · Frontiers in Pharmacology
- Neuromotor Development in the Shank3 Mouse Model of Autism Spectrum DisorderMiriam Pillerová, Diana Drobná, Jakub Szabó, Emese Renczés, Veronika Borbélyová, Daniela Ostatníková, Peter Celec, Ľubomíra Tóthová · 2022 · Brain Sciences
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid SyndromeLisa Asta, Arianna Ricciardello, Francesca Cucinotta, Laura Turriziani, Maria Boncoddo, Fabiana Bellomo, Jessica Maria Angelini, Martina Gnazzo, Giulia Scandolo, Giulia Pisanò et al. · 2024 · Journal of Neurodevelopmental Disorders
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms InvolvedGiovanna Scorrano, Ludovica Di Francesco, Armando Di Ludovico, Francesco Chiarelli, Sara Matricardi · 2024 · International Journal of Molecular Sciences
- In Silico Elucidation of Deleterious Non-synonymous SNPs in SHANK3, the Autism Spectrum Disorder GeneHajar Owji, Mahboobeh Eslami, Navid Nezafat, Younes Ghasemi · 2020 · Journal of Molecular Neuroscience
- Shank3 deficits in the anteromedial bed nucleus of the stria terminalis trigger an anxiety phenotype in miceAlessandro Contestabile, Giulia Casarotto, Stefano Musardo, Pedro Espinosa, Federica Maltese, Yong‐hui Jiang, Camilla Bellone, Christelle Glangetas · 2023 · European Journal of Neuroscience
- METH exposure alters sperm DNA methylation in F0 mice and mPFC transcriptome in male F1 miceZhaosu Li, Dekang Liu, Guanxiong Wang, Yanyan Zheng, Liying Chen, Zhen Cheng, Zijing Zhang, Qinglong Cai, Feifei Ge, Yu Fan et al. · 2023 · Psychopharmacology
- Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disabilityWenmiao Zhu, Jianli Li, Stella Chen, Jinglan Zhang, Francesco Vetrini, Alicia A. Braxton, Christine M. Eng, Yaping Yang, Fan Xia, Kory L. Keller et al. · 2018 · American Journal of Medical Genetics Part A
- Heterozygous Nexmif female mice demonstrate mosaic NEXMIF expression, autism-like behaviors, and abnormalities in dendritic arborization and synaptogenesisMargaret G. O’Connor, Hui Qiao, KathrynAnn Odamah, Pedro Casariego Cerdeira, Heng‐Ye Man · 2024 · Heliyon
- Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygositySamuel E. Taylor, Ruth D. Taylor, Jack Price, Laura C. Andreae · 2018 · Stem Cell Research & Therapy
- Solution structures of the SH 3 domains from Shank scaffold proteins and their interactions with Cav1.3 calcium channelsHiroaki Ishida, Anton Skorobogatov, Aaron P. Yamniuk, Hans J. Vogel · 2018 · FEBS Letters
- Autism--genetics, electrophysiology and clinical syndromes.Nada D. Pop-Jordanova, Dijana Plaseska‐Karanfilska · 2014 · PubMed
- Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilitiesAndreas G. Chiocchetti, Afsheen Yousaf, Hannah S. Bour, Denise Haslinger, Regina Waltes, Eftichia Duketis, Tomasz Antoni Jarczok, Michael Sachse, Monica Biscaldi, Franziska Degenhardt et al. · 2017 · Journal of Neural Transmission
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- Cromosoma 22 en anillo en paciente con trastorno del neurodesarrolloPatricia Mendoza, Gretell Huertas-Pérez, Luanda Maceira Rosales, Luis Alberto Méndez Rosado · 2023 · Salud Ciencia y Tecnología - Serie de Conferencias
- Reduced attention to human eyes in autism-associated Shank3 mutant laboratory beagle dogsYumo Li, Qiandong Wang, Siqi Yuan, Tak Kwan Lam, Kun Guo, Yongqing Zhang, Li Yi · 2025 · Molecular Psychiatry
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- Epigenomic Mechanisms of Human Developmental DisordersErfan Aref‐Eshghi, Laila Cigana Schenkel, Deanna Alexis Carere, David I. Rodenhiser, Bekim Sadiković · 2018 · Elsevier eBooks
- Descriptive Analysis of Adaptive Behavior in Phelan–McDermid Syndrome and Autism Spectrum DisorderSergio Serrada-Tejeda, Rosa María Martínez-Piédrola, Nuria Máximo-Bocanegra, Patricia Sánchez-Herrera-Baeza, Marta Pérez‐de‐Heredia‐Torres · 2022 · Frontiers in Neuroscience
- Swimming exercise is a promising early intervention for autism‐like behavior in Shank3 deletion ratsDan Xu, Yunchen Meng, Shasha An, Wenshu Meng, Hanran Li, Weinan Zhang, Yaqi Xue, Xinyu Lan, Xiaoxi Wang, Mingjuan Li et al. · 2022 · CNS Neuroscience & Therapeutics
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- Modelling Autistic Neurons with Induced Pluripotent Stem CellsAnnie Kathuria, Carlo Sala, Chiara Verpelli, Jack Price · 2017 · Advances in anatomy, embryology and cell biology
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- The Genetic and Epigenetic Basis Involved in the Pathophysiology of ASD: Therapeutic ImplicationsMaria Carmen Carrascosa-Romero, Carlos de Cabo · 2017 · InTech eBooks
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