| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dorit Trudler, Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Melissa Luevanos, Sergio Labra, Titas Grabauskas, Sarah Moore Noveral, Mayu Teranaka, Emily Schahrer, Nima Dolatabadi, Clare Bakker, Kevin Lopez, Abdullah Sultan, Parth Patel, Agnes Chan, Yongwook Choi, Riki Kawaguchi, Pawel Stankiewicz, Ivan Garcia-Bassets, Piotr Kozbial, Michael G Rosenfeld, Nobuki Nakanishi, Daniel H Geschwind, Shing Fai Chan, Wei Lin, Nicholas J Schork, Rajesh Ambasudhan, Stuart A Lipto. Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids. Molecular psychiatry. 2024-09-30. PMID:39349966. |
dysregulation of mirna expression and excitation in mef2c autism patient hipsc-neurons and cerebral organoids. |
2024-09-30 |
2024-10-03 |
human |
| Dorit Trudler, Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Melissa Luevanos, Sergio Labra, Titas Grabauskas, Sarah Moore Noveral, Mayu Teranaka, Emily Schahrer, Nima Dolatabadi, Clare Bakker, Kevin Lopez, Abdullah Sultan, Parth Patel, Agnes Chan, Yongwook Choi, Riki Kawaguchi, Pawel Stankiewicz, Ivan Garcia-Bassets, Piotr Kozbial, Michael G Rosenfeld, Nobuki Nakanishi, Daniel H Geschwind, Shing Fai Chan, Wei Lin, Nicholas J Schork, Rajesh Ambasudhan, Stuart A Lipto. Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids. Molecular psychiatry. 2024-09-30. PMID:39349966. |
mef2c is a critical transcription factor in neurodevelopment, whose loss-of-function mutation in humans results in mef2c haploinsufficiency syndrome (mhs), a severe form of autism spectrum disorder (asd)/intellectual disability (id). |
2024-09-30 |
2024-10-03 |
human |
| Deema Ali, Aodán Laighneach, Emma Corley, Saahithh Redddi Patlola, Rebecca Mahoney, Laurena Holleran, Declan P McKernan, John P Kelly, Aiden P Corvin, Brian Hallahan, Colm McDonald, Gary Donohoe, Derek W Morri. Direct targets of MEF2C are enriched for genes associated with schizophrenia and cognitive function and are involved in neuron development and mitochondrial function. PLoS genetics. vol 20. issue 9. 2024-09-11. PMID:39259737. |
genetic studies have identified mef2c as a gene that influences cognition and risk for neuropsychiatric disorders, including autism spectrum disorder (asd) and schizophrenia (scz). |
2024-09-11 |
2024-09-14 |
Not clear |
| Claire Ward, Kaoutsar Nasrallah, Duy Tran, Ehsan Sabri, Arenski Vazquez, Lucas Sjulson, Pablo E Castillo, Renata Batista-Brit. Developmental Disruption of Mef2c in Medial Ganglionic Eminence-derived cortical inhibitory interneurons impairs cellular and circuit function. Biological psychiatry. 2024-06-07. PMID:38848814. |
mef2c is strongly linked to various neurodevelopmental disorders (ndds) including autism, intellectual disability, schizophrenia, and attention-deficit/hyperactivity. |
2024-06-07 |
2024-06-10 |
mouse |
| Mingliang Bai, Dan Ye, Xudong Guo, Jiajie Xi, Nana Liu, Yukang Wu, Wenwen Jia, Guiying Wang, Wen Chen, Guoping Li, Zeyidan Jiapaer, Jiuhong Kan. Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism. EMBO reports. vol 21. issue 11. 2021-04-27. PMID:33016573. |
the results of this study reveal an epigenetic mechanism by which ndime regulates mef2c transcription and neural differentiation and suggest potential effects and therapeutic approaches of the ndime/mef2c axis in autism. |
2021-04-27 |
2023-08-13 |
mouse |
| Mingliang Bai, Dan Ye, Xudong Guo, Jiajie Xi, Nana Liu, Yukang Wu, Wenwen Jia, Guiying Wang, Wen Chen, Guoping Li, Zeyidan Jiapaer, Jiuhong Kan. Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism. EMBO reports. vol 21. issue 11. 2021-04-27. PMID:33016573. |
a microdeletion within human chromosome 5q14.3 has been associated with the occurrence of neurodevelopmental disorders, such as autism and intellectual disability, and mef2c haploinsufficiency was identified as main cause. |
2021-04-27 |
2023-08-13 |
mouse |
| Mingliang Bai, Dan Ye, Xudong Guo, Jiajie Xi, Nana Liu, Yukang Wu, Wenwen Jia, Guiying Wang, Wen Chen, Guoping Li, Zeyidan Jiapaer, Jiuhong Kan. Critical regulation of a NDIME/MEF2C axis in embryonic stem cell neural differentiation and autism. EMBO reports. vol 21. issue 11. 2021-04-27. PMID:33016573. |
moreover, the expression levels of both ndime and mef2c were strongly downregulated in the hippocampus of a mouse model of autism, and the adeno-associated virus (aav)-mediated expression of ndime in the hippocampus of these mice significantly increased mef2c expression and ameliorated autism-like behaviors. |
2021-04-27 |
2023-08-13 |
mouse |
| Adam J Harrington, Catherine M Bridges, Stefano Berto, Kayla Blankenship, Jennifer Y Cho, Ahlem Assali, Benjamin M Siemsen, Hannah W Moore, Evgeny Tsvetkov, Acadia Thielking, Genevieve Konopka, David B Everman, Michael D Scofield, Steven A Skinner, Christopher W Cowa. MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice. Biological psychiatry. vol 88. issue 6. 2021-03-03. PMID:32418612. |
microdeletions of the mef2c gene are linked to a syndromic form of autism termed mef2c haploinsufficiency syndrome (mchs). |
2021-03-03 |
2023-08-13 |
mouse |
| Sandhya Prakash Kamath, Albert I Che. Myocyte Enhancer Factor 2c Regulates Dendritic Complexity and Connectivity of Cerebellar Purkinje Cells. Molecular neurobiology. vol 56. issue 6. 2019-08-29. PMID:30276662. |
mef2c haploinsufficiency is implicated in behavioral deficits related to autism, schizophrenia, and intellectual disability. |
2019-08-29 |
2023-08-13 |
Not clear |
| Shichun Tu, Mohd Waseem Akhtar, Rosa Maria Escorihuela, Alejandro Amador-Arjona, Vivek Swarup, James Parker, Jeffrey D Zaremba, Timothy Holland, Neha Bansal, Daniel R Holohan, Kevin Lopez, Scott D Ryan, Shing Fai Chan, Li Yan, Xiaofei Zhang, Xiayu Huang, Abdullah Sultan, Scott R McKercher, Rajesh Ambasudhan, Huaxi Xu, Yuqiang Wang, Daniel H Geschwind, Amanda J Roberts, Alexey V Terskikh, Robert A Rissman, Eliezer Masliah, Stuart A Lipton, Nobuki Nakanish. NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. Nature communications. vol 8. issue 1. 2018-09-17. PMID:29133852. |
nitrosynapsin therapy for a mouse mef2c haploinsufficiency model of human autism. |
2018-09-17 |
2023-08-13 |
mouse |
| Shichun Tu, Mohd Waseem Akhtar, Rosa Maria Escorihuela, Alejandro Amador-Arjona, Vivek Swarup, James Parker, Jeffrey D Zaremba, Timothy Holland, Neha Bansal, Daniel R Holohan, Kevin Lopez, Scott D Ryan, Shing Fai Chan, Li Yan, Xiaofei Zhang, Xiayu Huang, Abdullah Sultan, Scott R McKercher, Rajesh Ambasudhan, Huaxi Xu, Yuqiang Wang, Daniel H Geschwind, Amanda J Roberts, Alexey V Terskikh, Robert A Rissman, Eliezer Masliah, Stuart A Lipton, Nobuki Nakanish. NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism. Nature communications. vol 8. issue 1. 2018-09-17. PMID:29133852. |
transcription factor mef2c regulates multiple genes linked to autism spectrum disorder (asd), and human mef2c haploinsufficiency results in asd, intellectual disability, and epilepsy. |
2018-09-17 |
2023-08-13 |
mouse |
| F Novara, S Beri, R Giorda, E Ortibus, S Nageshappa, F Darra, B Dalla Bernardina, O Zuffardi, H Van Esc. Refining the phenotype associated with MEF2C haploinsufficiency. Clinical genetics. vol 78. issue 5. 2011-02-17. PMID:20412115. |
here we present two additional patients with severe mr, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the mef2c gene. |
2011-02-17 |
2023-08-12 |
Not clear |