| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Yuta Takanezawa, Shogo Tanabe, Daiki Kato, Rie Ozeki, Masayo Komoda, Tatsunori Suzuki, Hiroko Baba, Rieko Muramats. Microglial ASD-related genes are involved in oligodendrocyte differentiation. Scientific reports. vol 11. issue 1. 2021-11-11. PMID:34497307. |
autism spectrum disorders (asd) are associated with mutations of chromodomain-helicase dna-binding protein 8 (chd8) and tuberous sclerosis complex 2 (tsc2). |
2021-11-11 |
2023-08-13 |
Not clear |
| Viera Kútna, Valerie B O'Leary, Ehren Newman, Cyril Hoschl, Saak V Ovsepia. Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 18. issue 2. 2021-11-02. PMID:33398801. |
tuberous sclerosis complex (tsc) is a dominant autosomal genetic disorder caused by loss-of-function mutations in tsc1 and tsc2, which lead to constitutive activation of the mammalian target of rapamycin c1 (mtorc1) with its decoupling from regulatory inputs. |
2021-11-02 |
2023-08-13 |
human |
| Hajime Miyata, Soichiro Fushimi, Yoko Ota, Harry V Vinters, Kaori Adachi, Eiji Nanba, Tomoyuki Akiyam. Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 41. issue 1. 2021-10-28. PMID:33181865. |
tuberous sclerosis complex (tsc) is an autosomal dominant hereditary disorder caused by mutations in either tsc1 on chromosome 16 or tsc2 on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. |
2021-10-28 |
2023-08-13 |
Not clear |
| Anika Bongaarts, Caroline Mijnsbergen, Jasper J Anink, Floor E Jansen, Wim G M Spliet, Wilfred F A den Dunnen, Roland Coras, Ingmar Blümcke, Werner Paulus, Victoria E Gruber, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Söylemezoğlu, José Pimentel, David T W Jones, Brendon P Scicluna, Antoinette Y N Schouten-van Meeteren, Angelika Mühlebner, James D Mills, Eleonora Aronic. Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. Cellular and molecular neurobiology. 2021-10-28. PMID:34709498. |
tuberous sclerosis complex (tsc) is a monogenic disorder caused by mutations in either the tsc1 or tsc2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. |
2021-10-28 |
2023-08-13 |
Not clear |
| Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Proll. Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state. Genetics and molecular biology. vol 44. issue 4. 2021-10-23. PMID:34609442. |
tuberous sclerosis complex (tsc) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in tsc1 or tsc2 genes and characterized by mtorc1 hyperactivation. |
2021-10-23 |
2023-08-13 |
Not clear |
| Till S Zimmer, Anatoly Korotkov, Susan Zwakenberg, Floor E Jansen, Fried J T Zwartkruis, Nicholas R Rensing, Michael Wong, Angelika Mühlebner, Erwin A van Vliet, Eleonora Aronica, James D Mill. Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress. Brain pathology (Zurich, Switzerland). vol 31. issue 5. 2021-10-13. PMID:33786950. |
tuberous sclerosis complex (tsc) is a congenital disorder characterized by cortical malformations and concomitant epilepsy caused by loss-of-function mutations in the mtor suppressors tsc1 or tsc2. |
2021-10-13 |
2023-08-13 |
Not clear |
| Anna Caliò, Matteo Brunelli, Diego Segala, Giuseppe Zamboni, Franco Bonetti, Maurizio Pea, Guido Martignon. Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. Pathology. vol 53. issue 1. 2021-10-04. PMID:33131798. |
angiomyolipoma can occur in patients with tuberous sclerosis, a hereditary syndrome due to the alteration of tsc1 or tsc2 genes, or sporadically. |
2021-10-04 |
2023-08-13 |
Not clear |
| Anna Caliò, Matteo Brunelli, Diego Segala, Giuseppe Zamboni, Franco Bonetti, Maurizio Pea, Guido Martignon. Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. Pathology. vol 53. issue 1. 2021-10-04. PMID:33131798. |
the activation of the mtor pathway due to genetic alterations of tuberous sclerosis complex in tsc1 or tsc2 genes in angiomyolipoma has also been reported as well as the subsequent therapeutic implications. |
2021-10-04 |
2023-08-13 |
Not clear |
| Christian U Oeing, Seungho Jun, Sumita Mishra, Brittany L Dunkerly-Eyring, Anna Chen, Maria I Grajeda, Usman A Tahir, Robert E Gerszten, Nazareno Paolocci, Mark J Ranek, David A Kas. MTORC1-Regulated Metabolism Controlled by TSC2 Limits Cardiac Reperfusion Injury. Circulation research. vol 128. issue 5. 2021-10-01. PMID:33401933. |
this can be circumvented by regulating one serine (s1365) on tsc2 (tuberous sclerosis complex) to achieve bidirectional mtorc1 modulation but only with tcs2-regulated costimulation. |
2021-10-01 |
2023-08-13 |
Not clear |
| Evelyn M Mrozek, Vineeta Bajaj, Yanan Guo, Izabela A Malinowska, Jianming Zhang, David J Kwiatkowsk. Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer. PloS one. vol 16. issue 4. 2021-09-22. PMID:33891611. |
inactivating mutations in either tsc1 or tsc2 cause tuberous sclerosis complex, an autosomal dominant disorder, characterized by multi-system tumor and hamartoma development. |
2021-09-22 |
2023-08-13 |
Not clear |
| Giacomo M Bacci, Silvio Polizzi, Francesco Mari, Valerio Conti, Roberto Caputo, Renzo Guerrin. Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. vol 41. issue 3. 2021-09-13. PMID:33110010. |
tuberous sclerosis complex (tsc) is an autosomal dominant multisystemic disorder caused by mutations in either tsc1 or tsc2 genes and is characterized by hamartomas in multiple organs. |
2021-09-13 |
2023-08-13 |
Not clear |
| Linli Liu, Chunshui Yu, Herong Yang, Qinglian Lu, Fei Ouyang, Tingting Li. [Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 38. issue 9. 2021-09-08. PMID:34487535. |
[identification of a novel tsc2 gene variant in a patient with tuberous sclerosis complex]. |
2021-09-08 |
2023-08-13 |
Not clear |
| Christine Chin-Jung Hsieh, Yu-Chun Lo, Ssu-Ju Li, Ting-Chun Lin, Ching-Wen Chang, Ting-Chieh Chen, Shih-Hung Yang, Yi-Chao Lee, You-Yin Che. Detection of endophenotypes associated with neuropsychiatric deficiencies in a mouse model of tuberous sclerosis complex using diffusion tensor imaging. Brain pathology (Zurich, Switzerland). vol 31. issue 1. 2021-09-04. PMID:32530070. |
tuberous sclerosis complex (tsc) is a rare hereditary disease, which results from the mutation of either tsc1 or tsc2, and its clinical features include benign tumors and dysfunctions in numerous organs, including the brain. |
2021-09-04 |
2023-08-13 |
mouse |
| Bogyeong Han, Juhwan Lee, Yoon Jin Kwak, Hyun-Young Kim, Kwang Hoon Lee, Yumi Shim, Hyunju Lee, Sung-Hye Par. A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review. Diagnostic pathology. vol 16. issue 1. 2021-09-04. PMID:34465349. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in tsc1 and tsc2, including exonic, intronic, or mosaic mutations. |
2021-09-04 |
2023-08-13 |
Not clear |
| Chariton Moschopoulos, Jurriaan M Peters, Masanori Takeoka, Coral M Stredn. Infantile Hemiconvulsion-Hemiplegia and Epilepsy (IHHE) in a boy with tuberous sclerosis complex. Epilepsy & behavior reports. vol 16. 2021-09-03. PMID:34466799. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant disease due to pathogenic variants in tsc1 or tsc2 genes. |
2021-09-03 |
2023-08-13 |
Not clear |
| Tomas Petrasek, Iveta Vojtechova, Ondrej Klovrza, Klara Tuckova, Cestmir Vejmola, Jakub Rak, Anna Sulakova, Daniel Kaping, Nadine Bernhardt, Petrus J de Vries, Jakub Otahal, Robert Walterei. mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus. Journal of neurodevelopmental disorders. vol 13. issue 1. 2021-08-26. PMID:33863288. |
tuberous sclerosis complex (tsc), a multi-system genetic disorder often associated with autism spectrum disorder (asd), is caused by mutations of tsc1 or tsc2, which lead to constitutive overactivation of mammalian target of rapamycin (mtor). |
2021-08-26 |
2023-08-13 |
Not clear |
| Sayuki Iwahashi, Kazuya Tokumura, Gyujin Park, Shinsuke Ochiai, Yasuka Okayama, Hiroki Fusawa, Kaname Ohta, Kazuya Fukasawa, Takashi Iezaki, Eiichi Hino. mTORC1 Overactivation Leads to Abnormalities in Skeletal Development. Biological & pharmaceutical bulletin. vol 43. issue 12. 2021-08-24. PMID:33268720. |
tuberous sclerosis complex 1 (tsc1) and complex 2 (tsc2) are critical negative regulators of mtorc1. |
2021-08-24 |
2023-08-13 |
mouse |
| Seishu Gen, Yu Matsumoto, Tsukasa Suzuki, Jun Inoue, Yuji Yamamot. Methionine controls insulin/mammalian target of rapamycin complex 1 activity by modulating tuberous sclerosis complex 2 stability. Biochemical and biophysical research communications. vol 541. 2021-08-13. PMID:33482580. |
tuberous sclerosis complex 2 (tsc2) is a tumor-suppressor protein that is partially regulated by insulin, energy, oxygen, and growth factors. |
2021-08-13 |
2023-08-13 |
Not clear |
| Matthias Sauter, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D'Amato, Guillaume B d'Augères, Petrus J de Vries, José C Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Ruben Marques, Rima Nabbout, Finbar O'Callaghan, Jiong Qin, Valentin Sander, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna Jansen, J Chris Kingswoo. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet journal of rare diseases. vol 16. issue 1. 2021-08-05. PMID:34229737. |
tuberous sclerosis complex (tsc) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the tsc1 or tsc2 gene. |
2021-08-05 |
2023-08-13 |
Not clear |
| Annie Hien, Gemma Molinaro, Botao Liu, Kimberly M Huber, Joel D Richte. Ribosome profiling in mouse hippocampus: plasticity-induced regulation and bidirectional control by TSC2 and FMRP. Molecular autism. vol 11. issue 1. 2021-08-03. PMID:33054857. |
mutations in tsc2 are the most common cause of tuberous sclerosis (tsc), a disorder with a high incidence of autism and intellectual disability. |
2021-08-03 |
2023-08-13 |
mouse |