All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
Iya Ghassib, Honghao Zhang, Shuqun Qi, Rawan Moshen, Yuji Mishina, Teresita Bellido, Fei Li. Off-target activity of the 8 kb Dmp1-Cre results in the deletion of Tsc1 gene in mouse intestinal mesenchyme. Transgenic research. 2022-12-22. PMID:36547785. histological examination shows the presence of colon polyps in tsc1-deficient mice in association with significantly larger colon and narrower lumen, which recapitulates the common polyps pathology in tuberous sclerosis, an autosomal dominant disorder caused by mutations in either tsc1 or tsc2. 2022-12-22 2023-08-14 mouse
Fei Li, Yifan Zhang, Zhoujun Lin, Lizhong Yan, Qiao Liu, Yin Li, Xiaolin Pei, Ya Feng, Xiao Han, Juan Yang, Fangxu Zheng, Tianjiao Li, Yupeng Zhang, Zhenkun Fu, Di Shao, Jane Yu, Chenggang L. Targeting SPHK1/S1PR3-regulated S-1-P metabolic disorder triggers autophagic cell death in pulmonary lymphangiomyomatosis (LAM). Cell death & disease. vol 13. issue 12. 2022-12-21. PMID:36543771. lymphangioleiomyomatosis (lam), a progressive pulmonary disease exclusively affecting females, is caused by defects or mutations in the coding gene tuberous sclerosis complex 1 (tsc1) or tsc2, causing the mammalian target of rapamycin complex 1 (mtorc1) activation and autophagy inhibition. 2022-12-21 2023-08-14 Not clear
Yuanjun Shen, Dmitry A Goncharov, Andressa Pena, Jeffrey Baust, Andres Chavez Barragan, Arnab Ray, Analise Rode, Timothy N Bachman, Baojun Chang, Lifeng Jiang, Paul Dieffenbach, Laura E Fredenburgh, Mauricio Rojas, Horace DeLisser, Ana L Mora, Tatiana V Kudryashova, Elena A Goncharov. Cross-talk between TSC2 and the extracellular matrix controls pulmonary vascular proliferation and pulmonary hypertension. Science signaling. vol 15. issue 763. 2022-12-06. PMID:36473049. because cell growth mediated by the mtor-containing mtorc1 complex is inhibited by tuberous sclerosis complex 2 (tsc2), we investigated the role of this gtpase-activating protein in pah pathology. 2022-12-06 2023-08-14 mouse
Huawen Xu, Yang Zhao, Qingjie Zhao, Mingpu Shi, Zhaoqi Zhang, Wenjun Ding, Yong Zha. Tuberous Sclerosis Complex 1 Deficiency in Macrophages Promotes Unclassical Inflammatory Response to Lipopolysaccharide Aging and disease. vol 13. issue 6. 2022-12-05. PMID:36465179. tuberous sclerosis complex 1 deficiency in macrophages promotes unclassical inflammatory response to lipopolysaccharide human tuberous sclerosis (tsc) is mainly caused by genetic mutations of tuberous tsc1or tsc2. 2022-12-05 2023-08-14 mouse
Canyang Zhan, Lihua Che. [Analysis of TSC2 gene variant in a neonate with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 39. issue 12. 2022-12-01. PMID:36453965. [analysis of tsc2 gene variant in a neonate with tuberous sclerosis complex]. 2022-12-01 2023-08-14 Not clear
Xue Liu, Yan Liu, Rui-Xue Yang, Xiang-Jiu Ding, Er-Shun Lian. Loss of myeloid Tsc2 predisposes to angiotensin II-induced aortic aneurysm formation in mice. Cell death & disease. vol 13. issue 11. 2022-11-18. PMID:36400753. genetic studies have proved the involvement of tuberous sclerosis complex subunit 2 (tsc2) in aortic aneurysm. 2022-11-18 2023-08-14 mouse
Shengzhao Hu, Yingli Chen, Shipeng Huang, Min Liu, Ying Liu, Shaofang Huan. Sodium Danshensu protects against oxygen glucose deprivation/reoxygenation-induced astrocytes injury through regulating NOD-like receptor pyrin domain containing 3 (NLRP3) inflammasome and tuberous sclerosis complex-2 (TSC2)/mammalian target of rapamycin (mTOR) pathways. Annals of translational medicine. vol 10. issue 20. 2022-11-17. PMID:36388798. sodium danshensu protects against oxygen glucose deprivation/reoxygenation-induced astrocytes injury through regulating nod-like receptor pyrin domain containing 3 (nlrp3) inflammasome and tuberous sclerosis complex-2 (tsc2)/mammalian target of rapamycin (mtor) pathways. 2022-11-17 2023-08-14 Not clear
Machiko Kazami, Tomoya Sakamoto, Tsukasa Suzuki, Hirofumi Inoue, Hayato Kato, Ken-Ichi Kobayashi, Tadahiro Tadokoro, Yuji Yamamot. Ca2+/Calmodulin induces translocation of membrane-associated TSC2 to the nucleus where it suppresses CYP24A1 expression. Bioscience, biotechnology, and biochemistry. 2022-11-04. PMID:36331254. tuberous sclerosis complex 2 (tsc2) is a tumor-suppressor protein. 2022-11-04 2023-08-14 rat
Bingying Xu, Zhuqing Li, Shan Li, Hanni Ke, Qian Zhang, Yingying Qin, Ting Gu. Pathogenic variants in TSC2 might cause premature ovarian insufficiency through activated mTOR induced hyperactivation of primordial follicles. Fertility and sterility. 2022-10-13. PMID:36229297. to investigate the role of tuberous sclerosis complex (tsc) genes, including tsc1 and tsc2, in the pathogenesis of human premature ovarian insufficiency (poi). 2022-10-13 2023-08-14 human
Jiahuan Zhang, Song Xu, Kangyan Liang, Xiong Cao, Zhixin Ye, Wenlan Huang, Xiaochun Bai, Yue Zhan. LysM-positive neurons drive Tuberous Sclerosis Complex (TSC)-associated brain lesions. Cellular signalling. 2022-09-17. PMID:36115548. mutations of tsc1 or tsc2 can lead to excessive activation of mtorc1 and cause tuberous sclerosis complex (tsc), which is an autosomal dominant genetic disease prominently characterized by seizures, mental retardation and multiorgan hamartoma. 2022-09-17 2023-08-14 mouse
Clara Bernardelli, Eloisa Chiaramonte, Silvia Ancona, Silvia M Sirchia, Amilcare Cerri, Elena Lesm. Primary TSC2 International journal of molecular sciences. vol 23. issue 17. 2022-09-09. PMID:36077111. primary tsc2 cutaneous lesions are one of the hallmarks of tuberous sclerosis complex (tsc), a genetic disease in which mtor is hyperactivated due to the lack of hamartin or tuberin. 2022-09-09 2023-08-14 Not clear
Alfredo Cerisola, Lucía Cibils, María Eugenia Chaibún, Virginia Pedemonte, Melania Rosa. [Tuberous sclerosis complex: diagnosis and current treatment]. Medicina. vol 82 Suppl 3. 2022-09-02. PMID:36054862. tuberous sclerosis complex is an autosomal dominant genetic multisystemic disorder caused primarily by mutations in one of the two tumor suppressor genes tsc1 or tsc2, resulting in increased activation of the mtor pathway. 2022-09-02 2023-08-14 Not clear
Prabhumallikarjun Patil, Bojana Borislavova Pencheva, Vinayak Mahesh Patil, Jason Fangusar. Nervous system (NS) Tumors in Cancer Predisposition Syndromes. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 2022-09-02. PMID:36056180. cancer predisposition syndromes that increase risks for ns tumor development in childhood include classic neurocutaneous disorders like neurofibromatosis type 1 and type 2 (nf1, nf2) and tuberous sclerosis complex (tsc) type 1 and 2 (tsc1, tsc2). 2022-09-02 2023-08-14 Not clear
Paolo Curatolo, Nicola Specchio, Eleonora Aronic. Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy. The Lancet. Neurology. vol 21. issue 9. 2022-08-13. PMID:35963265. tuberous sclerosis complex is a rare genetic disease associated with mutations in the tsc1 or tsc2 genes, which cause overactivation of the mtor complex. 2022-08-13 2023-08-14 Not clear
Adam Pillon, Jessica Dare-Shih, Jackie Fong, Elizabeth Fidalgo da Silva, Lisa A Porte. Dissecting the roles of the Tuberin protein in the subcellular localization of the G2/M Cyclin, Cyclin B1. PloS one. vol 17. issue 8. 2022-08-10. PMID:35947627. mutations in the tuberin gene, tsc2, lead to the formation of benign tumors in many organ systems and causes the tuberous sclerosis complex disorder. 2022-08-10 2023-08-14 Not clear
Vasiliki Karalis, Franklin Caval-Holme, Helen S Bateu. Raptor downregulation rescues neuronal phenotypes in mouse models of Tuberous Sclerosis Complex. Nature communications. vol 13. issue 1. 2022-08-09. PMID:35945201. tuberous sclerosis complex (tsc) is a neurodevelopmental disorder caused by mutations in the tsc1 or tsc2 genes, which encode proteins that negatively regulate mtor complex 1 (mtorc1) signaling. 2022-08-09 2023-08-14 mouse
Paul A Roberson, Leonard S Jefferson, Scot R Kimbal. Convergence of Signaling Pathways in Mediating Actions of Leucine and IGF-1 on mTORC1 in L6 Myoblasts. American journal of physiology. Cell physiology. 2022-08-01. PMID:35912992. compared to leucine- and serum-deprived myoblasts, igf-1, but not leucine, promoted phosphorylation of protein kinase b (akt), tuberous sclerosis complex 2 (tsc2), and the autophosphorylation site on mtor (s2481) and also stimulated mtor kinase activity in mtor immunoprecipitated samples. 2022-08-01 2023-08-14 Not clear
Habib Ahmad Esma. Giant cyst-like cortical tubers in an adult with tuberous sclerosis presenting as spastic tetraplegia. Annals of medicine and surgery (2012). vol 79. 2022-07-21. PMID:35860060. tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by inactivating mutations in tsc1 or tsc2 genes, resulting in benign lesions that involve multiple organs including the central nerves system. 2022-07-21 2023-08-14 Not clear
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A Flood, William L Stanfor. Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes. Cell reports. vol 40. issue 1. 2022-07-06. PMID:35793620. tuberous sclerosis complex (tsc) is a multisystem tumor-forming disorder caused by loss of tsc1 or tsc2. 2022-07-06 2023-08-14 human
Kaili Yin, Nan Lin, Qiang Lu, Liri Jin, Yan Huang, Xiangqin Zhou, Kaifeng Xu, Qing Liu, Xue Zhan. Genetic analysis of 18 families with tuberous sclerosis complex. Neurogenetics. 2022-05-21. PMID:35596872. tuberous sclerosis complex (tsc) is mainly caused by variants in tsc1 and tsc2, which encodes hamartin protein and tuberin protein, respectively. 2022-05-21 2023-08-13 Not clear