| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lisa Asta, Arianna Ricciardello, Francesca Cucinotta, Laura Turriziani, Maria Boncoddo, Fabiana Bellomo, Jessica Angelini, Martina Gnazzo, Giulia Scandolo, Giulia Pisanò, Francesco Pelagatti, Fethia Chehbani, Michela Camia, Antonio M Persic. Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome. Journal of neurodevelopmental disorders. vol 16. issue 1. 2024-10-04. PMID:39363263. |
phelan-mcdermid syndrome (pms) is caused by monoallelic loss or inactivation at the shank3 gene, located in human chr 22q13.33, and is often associated with autism spectrum disorder (asd). |
2024-10-04 |
2024-10-07 |
human |
| Wisam Bazbaz, Maryam Kartawy, Wajeha Hamoudi, Shashank Kumar Ojha, Igor Khaliulin, Haitham Ama. The Role of Thioredoxin System in Shank3 Mouse Model of Autism. Journal of molecular neuroscience : MN. vol 74. issue 4. 2024-09-30. PMID:39347996. |
the role of thioredoxin system in shank3 mouse model of autism. |
2024-09-30 |
2024-10-02 |
mouse |
| Wisam Bazbaz, Maryam Kartawy, Wajeha Hamoudi, Shashank Kumar Ojha, Igor Khaliulin, Haitham Ama. The Role of Thioredoxin System in Shank3 Mouse Model of Autism. Journal of molecular neuroscience : MN. vol 74. issue 4. 2024-09-30. PMID:39347996. |
we hypothesize that the trx system is altered in the shank3 ko mouse model of autism, which may lead to a decreased activity of the nuclear factor erythroid 2-related factor 2 (nrf2), resulting in oxidative stress, and thus, contributing to asd-related phenotypes. |
2024-09-30 |
2024-10-02 |
mouse |
| Rajaram Kshetri, James Beavers, Romana Hyde, Roseline Ewa, Amber Schwertman, Sarahi Porcayo, Ben Richardso. Behavioral regression in shank3Δex4-22 mice during early adulthood corresponds to cerebellar granule cell glutamatergic synaptic changes. Research square. 2024-09-16. PMID:39281868. |
shank3, a gene encoding a synaptic scaffolding protein, is implicated in autism spectrum disorder (asd) and is disrupted in phelan-mcdermid syndrome (pms). |
2024-09-16 |
2024-09-19 |
mouse |
| Xiaona Lu, Pengyu Ni, Paola Suarez-Meade, Yu Ma, Emily Niemitz Forrest, Guilin Wang, Yi Wang, Alfredo Quiñones-Hinojosa, Mark Gerstein, Yong-Hui Jian. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell reports. vol 43. issue 7. 2024-06-20. PMID:38900637. |
shank3 is one of the most common autism causative genes. |
2024-06-20 |
2024-06-23 |
mouse |
| Xiaona Lu, Pengyu Ni, Paola Suarez-Meade, Yu Ma, Emily Niemitz Forrest, Guilin Wang, Yi Wang, Alfredo Quiñones-Hinojosa, Mark Gerstein, Yong-Hui Jian. Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes. Cell reports. vol 43. issue 7. 2024-06-20. PMID:38900637. |
specific shank3 transcripts are altered in shank3-mutant mice and postmortem brain tissues from individuals with autism spectrum disorder. |
2024-06-20 |
2024-06-23 |
mouse |
| Amandine Thibaudeau, Karen Schmitt, Louise François, Laure Chatrousse, David Hoffmann, Loic Cousin, Amélie Weiss, Aurore Vuidel, Christina B Jacob, Peter Sommer, Alexandra Benchoua, Johannes H Wilbert. Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models. Translational psychiatry. vol 14. issue 1. 2024-06-10. PMID:38858349. |
the resulting deficiency of the postsynaptic density scaffolding protein shank3 is associated with autism spectrum disorder (asd). |
2024-06-10 |
2024-06-14 |
human |
| Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li Peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao H. Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons. Molecular autism. vol 15. issue 1. 2024-04-03. PMID:38570876. |
sh3 and multiple ankyrin repeat domains protein 3 (shank3) monogenic mutations or deficiency leads to excessive stereotypic behavior and impaired sociability, which frequently occur in autism cases. |
2024-04-03 |
2024-04-06 |
Not clear |
| Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li Peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao H. Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons. Molecular autism. vol 15. issue 1. 2024-04-03. PMID:38570876. |
to date, the underlying mechanisms by which shank3 mutation or deletion causes autism and the part of the brain in which shank3 mutation leads to the autistic phenotypes are understudied. |
2024-04-03 |
2024-04-06 |
Not clear |
| Shanshan Wu, Jing Wang, Zicheng Zhang, Xinchen Jin, Yang Xu, Youwen Si, Yixiao Liang, Yueping Ge, Huidong Zhan, Li Peng, Wenkai Bi, Dandan Luo, Mengzhu Li, Bo Meng, Qingbo Guan, Jiajun Zhao, Ling Gao, Zhao H. Shank3 deficiency elicits autistic-like behaviors by activating p38α in hypothalamic AgRP neurons. Molecular autism. vol 15. issue 1. 2024-04-03. PMID:38570876. |
however, it is unclear whether hypothalamus and p38α are involved in the development of autism caused by shank3 mutations or deficiency. |
2024-04-03 |
2024-04-06 |
Not clear |
| Cian Schmitt-Ulms, Alisan Kayabolen, Marcos Manero-Carranza, Nathan Zhou, Keira Donnelly, Sabrina Pia Nuccio, Kazuki Kato, Hiroshi Nishimasu, Jonathan S Gootenberg, Omar O Abudayye. Programmable RNA writing with trans-splicing. bioRxiv : the preprint server for biology. 2024-02-14. PMID:38352602. |
we show high efficiency replacement of exon 4 of mecp2, addressing most mutations that drive the rett syndrome; editing of shank3 transcripts, a gene involved in autism; and replacement of exon 1 of htt, removing the hallmark repeat expansions of huntington's disease. |
2024-02-14 |
2024-02-16 |
Not clear |
| Andres Jimenez-Gomez, Megan X Nguyen, Jason S Gil. Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction. Frontiers in psychiatry. vol 15. 2024-02-14. PMID:38352654. |
the current review seeks to understand how the disruption of ampa receptor (ampar)-mediated neurotransmission in the cerebro-cerebellar circuit, particularly in genetic autism related to shank3 or syngap1 protein dysfunction function and autism associated with |
2024-02-14 |
2024-02-16 |
Not clear |
| Feipeng Zhu, Qi Shi, Yong-Hui Jiang, Yong Q Zhang, Hui Zha. Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs. Molecular autism. vol 15. issue 1. 2024-01-31. PMID:38297387. |
shank3 gene is a highly replicated causative gene for autism spectrum disorder and has been well characterized in multiple shank3 mutant rodent models. |
2024-01-31 |
2024-02-03 |
dog |
| Chen-Xia Juan, Yan Mao, Xiao Han, Hua-Ying Qian, Kang-Kang Ch. EGR1 regulates SHANK3 transcription at different stages of brain development. Neuroscience. 2024-01-13. PMID:38218401. |
the expression levels of shank3 are associated with autism spectrum disorder (asd). |
2024-01-13 |
2024-01-16 |
human |
| Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciacci. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric genetics. 2023-12-12. PMID:38084626. |
among these, patients with genetic alteration disrupting shank3 gene are very rare and they also present neurodevelopmental disorder such as autism spectrum disorder and intellectual disability. |
2023-12-12 |
2023-12-17 |
Not clear |
| Elisa Granocchio, Eleonora Pollina, Marinella De Salvatore, Maria R Scopelliti, Giorgia Tanzi, Francesca L Sciacca, Stefano D'Arrigo, Claudia Ciacci. 22q13.33 duplication involving SHANK3 gene: a boy and his mother with "persistent" language and speech sound disorder. Psychiatric genetics. 2023-12-12. PMID:38084626. |
we describe the first case of 22q13.33 microduplication disrupting shank3 gene, inherited from mother to son, that presents a "persistent" language and speech sound disorder as main symptom without intellectual disability and autism spectrum disorder. |
2023-12-12 |
2023-12-17 |
Not clear |
| Hongchen Zhang, Yuan Feng, Yanfang Si, Chuanhao Lu, Juan Wang, Shiquan Wang, Liang Li, Wenyu Xie, Zheming Yue, Jia Yong, Shuhui Dai, Lei Zhang, Xia L. Shank3 ameliorates neuronal injury after cerebral ischemia/reperfusion via inhibiting oxidative stress and inflammation. Redox biology. vol 69. 2023-12-08. PMID:38064762. |
shank3, a key molecule related to the development and deterioration of autism, has recently been found to downregulate in the murine brain after ischemia/reperfusion (i/r). |
2023-12-08 |
2023-12-17 |
mouse |
| Muhammad Abdel-Haq, Shashank Kumar Ojha, Wajeha Hamoudi, Awanish Kumar, Manish Kumar Tripathi, Igor Khaliulin, Abraham J Domb, Haitham Ama. Effects of extended-release 7-nitroindazole gel formulation treatment on the behavior of Shank3 mouse model of autism. Nitric oxide : biology and chemistry. 2023-09-15. PMID:37714296. |
effects of extended-release 7-nitroindazole gel formulation treatment on the behavior of shank3 mouse model of autism. |
2023-09-15 |
2023-10-07 |
mouse |
| D V I, T N Proskokov. [Phelan-McDermid syndrome associated with a novel heterozygous mutation in the SHANK3 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 123. issue 8. 2023-09-01. PMID:37655421. |
phelan-mcdermid syndrome (pms) is a hereditary disorder associated with microdeletions of chromosome 22q13 or point mutations in shank3, characterized by mental and speech delays, intellectual disability, epilepsy and autism spectrum disorder. |
2023-09-01 |
2023-09-07 |
Not clear |
| Liang Wu, Shuting Mei, Shan Yu, Shihui Han, Yong Q Zhan. Shank3 mutations enhance early neural responses to deviant tones in dogs. Cerebral cortex (New York, N.Y. : 1991). 2023-08-16. PMID:37585733. |
both enhanced discrimination of low-level features of auditory stimuli and mutations of shank3 (a gene that encodes a synaptic scaffolding protein) have been identified in autism spectrum disorder patients. |
2023-08-16 |
2023-09-07 |
Not clear |