| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Siyao Zhang, Jiaqi Fan, Hairui Sun, Xiaoyan Hao, Yihua H. Generation of a TSC2 knockout embryonic stem cell line by CRISPR/Cas9 editing. Stem cell research. vol 77. 2024-04-04. PMID:38574666. |
tuberous sclerosis complex (tsc) is a severe developmental disorder with various clinical effects, primarily caused by tsc2 gene mutations, often involving loss of function(henske,et al., 2016).to explore role of tsc2 in human heart development, we successfully developed a tsc2 knockout (tsc2-/-) human embryonic stem cells (hescs) line using crispr/cas9 gene editing. |
2024-04-04 |
2024-04-07 |
human |
| Ananya Sharma, Bhawana Aggarwal, Aanchal Kakkar, Niraj Nirmal Pandey, Neha Tanej. Dermoscopy of hypopigmented macules unveiling genetic diagnosis of tuberous sclerosis complex type 2 in an infant presenting with sacral chordoma. Pediatric dermatology. 2024-03-19. PMID:38500310. |
the combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous tsc2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules. |
2024-03-19 |
2024-03-21 |
Not clear |
| Xiao-Tong Wang, Ru Fang, Hui-Ying He, Wei Zhang, Qing Li, Su-An Sun, Xuan Wang, Ru-Song Zhang, Xiao-Dong Teng, Xiao-Jun Zhou, Qiu-Yuan Xia, Ming Zhao, Qiu Ra. Recurrent Tuberous Sclerosis Complex/Mammalian Target of Rapamycin Mutations Define Primary Renal Hemangioblastoma as a Unique Entity Distinct From Its Central Nervous System Counterpart. The American journal of surgical pathology. 2024-03-19. PMID:38501656. |
mutational analysis demonstrated that all 10 renal hbs harbored somatic mutations in tuberous sclerosis complex 1 (tsc1, 5 cases), tsc2 (3 cases), and mammalian target of rapamycin (2 cases), with the majority classified as pathogenic or likely pathogenic. |
2024-03-19 |
2024-03-21 |
Not clear |
| HaEun Kim, Benjamin Lebeau, David Papadopoli, Predrag Jovanovic, Mariana Russo, Daina Avizonis, Masahiro Morita, Farzaneh Afzali, Josie Ursini-Siegel, Lynne-Marie Postovit, Michael Witcher, Ivan Topisirovi. MTOR modulation induces selective perturbations in histone methylation which influence the anti-proliferative effects of mTOR inhibitors. iScience. vol 27. issue 3. 2024-03-04. PMID:38433910. |
our results show that mtorc1 activation caused by the abrogation of its negative regulator tuberous sclerosis complex 2 (tsc2) coincides with increased levels of the histone modification h3k27me3 but not h3k4me3 or h3k9me3. |
2024-03-04 |
2024-03-06 |
Not clear |
| Jiahui Fu, Peili Liang, Yingchun Zheng, Cailing Xu, Fu Xiong, Fang Yan. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway. Gene. 2024-02-27. PMID:38412945. |
a large deletion in tsc2 causes tuberous sclerosis complex by dysregulating pi3k/akt/mtor signaling pathway. |
2024-02-27 |
2024-03-01 |
Not clear |
| Jiahui Fu, Peili Liang, Yingchun Zheng, Cailing Xu, Fu Xiong, Fang Yan. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway. Gene. 2024-02-27. PMID:38412945. |
tuberous sclerosis complex (tsc) is a multi-system syndrome caused by loss-of-function mutation in tsc1 or tsc2. |
2024-02-27 |
2024-03-01 |
Not clear |
| Marta Banchi, Tiziana Lanzolla, Arianna Di Napoli, Arianna Bandini, Guido Bocci, Maria Christina Co. Complete Remission of a Diffuse Large B-Cell Lymphoma in a Young Patient, with Severe Tuberous Sclerosis, Treated with Metronomic Chemotherapy and Ibrutinib: A Case Report. Chemotherapy. vol 69. issue 1. 2024-02-26. PMID:37549660. |
tuberous sclerosis (ts) is a rare autosomal dominant genetic multisystem disease caused by mutations in either the tsc1 or tsc2 gene and results in the growth of non-cancerous masses in several organs. |
2024-02-26 |
2024-02-29 |
human |
| Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosse. An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database. Genetics and molecular biology. vol 46. issue 3 Suppl 1. 2024-02-19. PMID:38373162. |
tuberous sclerosis complex (tsc) is caused by loss of function germline variants in the tsc1 or tsc2 tumor suppressor genes. |
2024-02-19 |
2024-02-22 |
Not clear |
| Paula Basso Dias, Anna Carolina Badotti Linhares, Ana Barbara Dias Lopes Urzedo, Rony Carlos Preti, Leandro Cabral Zacharias, Leonardo Provetti Cunha, Mário Luiz Ribeiro Monteiro, Kenzo Hokazon. Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis. International journal of retina and vitreous. vol 10. issue 1. 2024-02-04. PMID:38311784. |
tuberous sclerosis (ts) is a rare, multisystem genetic disease caused by mutations in the tsc1 and tsc2 genes, leading to abnormalities in cell differentiation and proliferation. |
2024-02-04 |
2024-02-07 |
Not clear |
| Lijuan Wang, Huan Xin. Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation. International journal of dermatology. 2024-01-25. PMID:38273422. |
segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel tsc2 mutation. |
2024-01-25 |
2024-01-28 |
Not clear |
| Seung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Le. Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family. Molecular genetics & genomic medicine. 2024-01-24. PMID:38265426. |
tuberous sclerosis complex (tsc) is an autosomal dominant multisystem disorder, caused by a loss-of-function of either tsc1 or tsc2 gene. |
2024-01-24 |
2024-01-26 |
Not clear |
| Yaewon Yang, Jisun Lee, Chang Gok Woo, Ok-Jun Lee, Seung-Myoung So. Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report. Diagnostic pathology. vol 19. issue 1. 2024-01-19. PMID:38243242. |
most pecomas arise sporadically, but may be associated with tuberous sclerosis complex (tsc), an autosomal dominant genetic disorder characterized by germline mutations in the tsc1 or tsc2 genes. |
2024-01-19 |
2024-01-22 |
Not clear |
| Vasiliki Karalis, Delaney Wood, Nicole A Teaney, Mustafa Sahi. The role of TSC1 and TSC2 proteins in neuronal axons. Molecular psychiatry. 2024-01-11. PMID:38212374. |
tuberous sclerosis complex 1 and 2 proteins, tsc1 and tsc2 respectively, participate in a multiprotein complex with a crucial role for the proper development and function of the nervous system. |
2024-01-11 |
2024-01-14 |
Not clear |
| Vasiliki Karalis, Delaney Wood, Nicole A Teaney, Mustafa Sahi. The role of TSC1 and TSC2 proteins in neuronal axons. Molecular psychiatry. 2024-01-11. PMID:38212374. |
this complex primarily acts as an inhibitor of the mechanistic target of rapamycin (mtor) kinase, and mutations in either tsc1 or tsc2 cause a neurodevelopmental disorder called tuberous sclerosis complex (tsc). |
2024-01-11 |
2024-01-14 |
Not clear |
| Nicola Alesi, Damir Khabibullin, Dean M Rosenthal, Elie W Akl, Pieter M Cory, Michel Alchoueiry, Samer Salem, Melissa Daou, William F Gibbons, Jennifer A Chen, Long Zhang, Harilaos Filippakis, Laura Graciotti, Caterina Miceli, Jlenia Monfregola, Claudia Vilardo, Manrico Morroni, Chiara Di Malta, Gennaro Napolitano, Andrea Ballabio, Elizabeth P Hensk. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nature communications. vol 15. issue 1. 2024-01-09. PMID:38195686. |
tuberous sclerosis complex (tsc) is caused by tsc1 or tsc2 mutations, leading to hyperactivation of mechanistic target of rapamycin complex 1 (mtorc1) and lesions in multiple organs including lung (lymphangioleiomyomatosis) and kidney (angiomyolipoma and renal cell carcinoma). |
2024-01-09 |
2024-01-13 |
mouse |
| Michał Sobstyl, Paweł Jezierski, Magdalena Konopko, Angelika Stapińska-Synie. Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus. Epilepsy & behavior reports. vol 25. 2023-12-28. PMID:38152567. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes tsc1 or tsc2. |
2023-12-28 |
2023-12-30 |
Not clear |
| Mohammed Repon Khan, Xiling Yin, Sung-Ung Kang, Jaba Mitra, Hu Wang, Taekyung Ryu, Saurav Brahmachari, Senthilkumar S Karuppagounder, Yasuyoshi Kimura, Aanishaa Jhaldiyal, Hyun Hee Kim, Hao Gu, Rong Chen, Javier Redding-Ochoa, Juan Troncoso, Chan Hyun Na, Taekjip Ha, Valina L Dawson, Ted M Dawso. Enhanced mTORC1 signaling and protein synthesis in pathologic α-synuclein cellular and animal models of Parkinson's disease. Science translational medicine. vol 15. issue 724. 2023-12-01. PMID:38019930. |
pathologic α-synuclein was found to bind with the tuberous sclerosis protein 2 (tsc2) and to trigger the activation of the mammalian target of rapamycin (mtor) complex 1 (mtorc1), which augmented mrna translation and protein synthesis, leading to neurodegeneration. |
2023-12-01 |
2023-12-07 |
mouse |
| Mohammed Repon Khan, Xiling Yin, Sung-Ung Kang, Jaba Mitra, Hu Wang, Taekyung Ryu, Saurav Brahmachari, Senthilkumar S Karuppagounder, Yasuyoshi Kimura, Aanishaa Jhaldiyal, Hyun Hee Kim, Hao Gu, Rong Chen, Javier Redding-Ochoa, Juan Troncoso, Chan Hyun Na, Taekjip Ha, Valina L Dawson, Ted M Dawso. Enhanced mTORC1 signaling and protein synthesis in pathologic α-synuclein cellular and animal models of Parkinson's disease. Science translational medicine. vol 15. issue 724. 2023-12-01. PMID:38019930. |
pathologic α-synuclein was found to bind with the tuberous sclerosis protein 2 (tsc2) and to trigger the activation of the mammalian target of rapamycin (mtor) complex 1 (mtorc1), which augmented mrna translation and protein synthesis, leading to neurodegeneration. |
2023-11-29 |
2023-12-07 |
mouse |
| D Mammadova, J Vecko, M Hofmann, S C Schüssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollman. A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet journal of rare diseases. vol 18. issue 1. 2023-11-10. PMID:37946245. |
tuberous sclerosis complex (tsc) is a rare multisystem disorder caused by mutations in the tsc1 or tsc2 gene. |
2023-11-10 |
2023-11-20 |
Not clear |
| He Min, Linhua Yang, Xinsen Xu, Yajun Geng, Fatao Liu, Yingbin Li. SNHG15 promotes gallbladder cancer progression by enhancing the autophagy of tumor cell under nutrition stress. Cell cycle (Georgetown, Tex.). 2023-11-08. PMID:37937948. |
mechanistically, snhg15 could interact with ampk and facilitate the phosphorylation of ampk to tuberous sclerosis complex tsc2, resulting in mtor suppression and autophagy enhancement, and finally, conferring the gbc cell sustain proliferation under nutrition stress. |
2023-11-08 |
2023-11-20 |
Not clear |