Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Hongwon Kim, Byounggook Cho, Hanseul Park, Junyeop Kim, Siyoung Kim, Jaein Shin, Christopher J Lengner, Kyoung-Jae Won, Jongpil Ki. Dormant state of quiescent neural stem cells links Shank3 mutation to autism development. Molecular psychiatry. 2022-04-21. PMID:35444258. |
dormant state of quiescent neural stem cells links shank3 mutation to autism development. |
2022-04-21 |
2023-08-13 |
mouse |
Yue Xu, Ya'nan Wang, Guang'an Tong, Lin Li, Juan Cheng, Lesha Zhang, Qi Xu, Liecheng Wang, Pingping Zhan. Expression of SH3 and Multiple Ankyrin Repeat Domains Protein 3 in Mouse Retina. Frontiers in cellular neuroscience. vol 16. 2022-04-11. PMID:35401120. |
synapse-associated gene mutations of sh3 and multiple ankyrin repeat domains protein 3 (shank3) may lead to autism spectrum disorder (asd). |
2022-04-11 |
2023-08-13 |
mouse |
A Kolevzon, M S Breen, P M Siper, D Halpern, Y Frank, H Rieger, J Weismann, M P Trelles, B Lerman, R Rapaport, J D Buxbau. Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome. Molecular autism. vol 13. issue 1. 2022-04-09. PMID:35395866. |
phelan-mcdermid syndrome (pms) is caused by haploinsufficiency of the shank3 gene and is characterized by global developmental delays and autism spectrum disorder (asd). |
2022-04-09 |
2023-08-13 |
Not clear |
Maximiliano Rapanelli, Jamal B Williams, Kaijie Ma, Fengwei Yang, Ping Zhong, Rajvi Patel, Manasa Kumar, Luye Qin, Benjamin Rein, Zi-Jun Wang, Bibi Kassim, Behnam Javidfar, Lizette Couto, Schahram Akbarian, Zhen Ya. Targeting histone demethylase LSD1 for treatment of deficits in autism mouse models. Molecular psychiatry. 2022-03-17. PMID:35296809. |
here, we show that histone lysine 4 dimethylation (h3k4me2), a histone mark linked to gene activation, is significantly decreased in the prefrontal cortex (pfc) of autistic human patients and mutant mice with the deficiency of top-ranking autism risk factor shank3 or cul3. |
2022-03-17 |
2023-08-13 |
mouse |
S Sethuram, T Levy, J Foss-Feig, D Halpern, S Sandin, P M Siper, H Walker, J D Buxbaum, R Rapaport, A Kolevzo. A proof-of-concept study of growth hormone in children with Phelan-McDermid syndrome. Molecular autism. vol 13. issue 1. 2022-01-30. PMID:35093163. |
phelan-mcdermid syndrome (pms) is caused by 22q13 deletions including shank3 or pathogenic sequence variants in shank3 and is among the more common rare genetic findings in autism spectrum disorder (asd). |
2022-01-30 |
2023-08-13 |
human |
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. |
inhibition of trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a shank3 mouse model of autism. |
2022-01-13 |
2023-08-13 |
mouse |
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. |
mutations in the shank3 gene have been recognized as a genetic risk factor for autism spectrum disorder (asd), a neurodevelopmental disease characterized by social deficits and repetitive behaviors. |
2022-01-13 |
2023-08-13 |
mouse |
Stamatina Tzanoulinou, Stefano Musardo, Alessandro Contestabile, Sebastiano Bariselli, Giulia Casarotto, Elia Magrinelli, Yong-Hui Jiang, Denis Jabaudon, Camilla Bellon. Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism. Molecular psychiatry. 2022-01-13. PMID:35022531. |
while heterozygous shank3 mutations are usually the types of mutations associated with idiopathic autism in patients, heterozygous deletion of shank3 gene in mice does not commonly induce asd-related behavioral deficit. |
2022-01-13 |
2023-08-13 |
mouse |
Robert A Kozol, David M James, Ivan Varela, Sureni H Sumathipala, Stephan Züchner, Julia E Dallma. Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. Communications biology. vol 4. issue 1. 2021-12-18. PMID:34921227. |
restoring shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. |
2021-12-18 |
2023-08-13 |
zebrafish |
Simone Chiola, Kandy L Napan, Yueqi Wang, Roman M Lazarenko, Celeste J Armstrong, Jun Cui, Aleksandr Shcheglovito. Defective AMPA-mediated synaptic transmission and morphology in human neurons with hemizygous SHANK3 deletion engrafted in mouse prefrontal cortex. Molecular psychiatry. vol 26. issue 9. 2021-11-24. PMID:33558651. |
shank3 is a postsynaptic scaffolding protein of excitatory synapses that has been found mutated or deleted in most patients with 22q13 deletion syndrome and about 2% of individuals with idiopathic autism and intellectual disability. |
2021-11-24 |
2023-08-13 |
mouse |
Siiri I Salomaa, Mitro Miihkinen, Elena Kremneva, Ilkka Paatero, Johanna Lilja, Guillaume Jacquemet, Joni Vuorio, Lina Antenucci, Konstantin Kogan, Fatemeh Hassani Nia, Patrik Hollos, Aleksi Isomursu, Ilpo Vattulainen, Eleanor T Coffey, Hans-Jürgen Kreienkamp, Pekka Lappalainen, Johanna Ivask. SHANK3 conformation regulates direct actin binding and crosstalk with Rap1 signaling. Current biology : CB. vol 31. issue 22. 2021-11-24. PMID:34610274. |
shank3 is a multifunctional scaffold protein, interacting with several actin-binding proteins and a well-established autism risk gene. |
2021-11-24 |
2023-08-13 |
Not clear |
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. |
the association of shank3 gene polymorphism and autism. |
2021-11-22 |
2023-08-13 |
Not clear |
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. |
shank3 is suggested as a strong candidate gene for the pathogenesis of autism and its loss results in disruption of synaptic function. |
2021-11-22 |
2023-08-13 |
Not clear |
Farhad Mashayekhi, Nahid Mizban, Elham Bidabadi, Zivar Saleh. The association of SHANK3 gene polymorphism and autism. Minerva pediatrics. vol 73. issue 3. 2021-11-22. PMID:27271042. |
the present study was aimed to evaluate whether rs9616915 polymorphism of shank3 are related with the susceptibility to autism. |
2021-11-22 |
2023-08-13 |
Not clear |
Chunxue Liu, Dongyun Li, Haowei Yang, Huiping Li, Qiong Xu, Bingrui Zhou, Chunchun Hu, Chunyang Li, Yi Wang, Zhongwei Qiao, Yong-Hui Jiang, Xiu X. Altered striatum centered brain structures in SHANK3 deficient Chinese children with genotype and phenotype profiling. Progress in neurobiology. vol 200. 2021-11-09. PMID:33388374. |
shank3 deficiency represents one of the most replicated monogenic risk factors for autism spectrum disorder (asd) and shank3 caused asd presents a unique opportunity to understand the underlying neuropathological mechanisms of asd. |
2021-11-09 |
2023-08-13 |
human |
Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y S Lau, Christian R Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M E Lewis, Peter Szatmari, Clarrisa A Lisa Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W Schere. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ genomic medicine. vol 6. issue 1. 2021-11-09. PMID:34737294. |
a recurrent shank3 frameshift variant in autism spectrum disorder. |
2021-11-09 |
2023-08-13 |
Not clear |
Gonzalo H Otazu, Yan Li, Zachary Lodato, Adel Elnasher, Katherine M Keever, Ying Li, Raddy L Ramo. Neurodevelopmental malformations of the cerebellum and neocortex in the Shank3 and Cntnap2 mouse models of autism. Neuroscience letters. vol 765. 2021-11-08. PMID:34555490. |
neurodevelopmental malformations of the cerebellum and neocortex in the shank3 and cntnap2 mouse models of autism. |
2021-11-08 |
2023-08-13 |
mouse |
Gonzalo H Otazu, Yan Li, Zachary Lodato, Adel Elnasher, Katherine M Keever, Ying Li, Raddy L Ramo. Neurodevelopmental malformations of the cerebellum and neocortex in the Shank3 and Cntnap2 mouse models of autism. Neuroscience letters. vol 765. 2021-11-08. PMID:34555490. |
in the present report, we document the presence of cerebellar and neocortical heterotopia in heterozygous and ko shank3 and cntnap2 mice which are due to the c57bl/6 genotype and discuss the role these malformations may play in research using these genetic models of autism. |
2021-11-08 |
2023-08-13 |
mouse |
Luye Qin, Kaijie Ma, Zhen Ya. Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2021-10-27. PMID:34703011. |
rescue of histone hypoacetylation and social deficits by ketogenic diet in a shank3 mouse model of autism. |
2021-10-27 |
2023-08-13 |
mouse |
Luye Qin, Kaijie Ma, Zhen Ya. Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2021-10-27. PMID:34703011. |
the diminished histone acetylation is also recaptured in an autism mouse model with the deficiency of the shank3 gene encoding a synaptic scaffolding protein. |
2021-10-27 |
2023-08-13 |
mouse |