| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| L-P Secco, C Coubes, P Meyer, L Chenine, A Roubertie, M-C Malinge, D Bessi. Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients. Annales de dermatologie et de venereologie. 2022-05-08. PMID:35527063. |
tuberous sclerosis complex (tsc) is a genetic disorder involving the tsc1 or tsc2 gene. |
2022-05-08 |
2023-08-13 |
Not clear |
| Agnieszka Kluz, Jolanta Gozdowska, Piotr Domagała, Magdalena Durli. Kidney Transplantation in a Patient With Tuberous Sclerosis Complex: A Case Report. Transplantation proceedings. 2022-04-17. PMID:35430095. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant genetic disease caused by mutations of either of 2 genes, tsc1 and tsc2. |
2022-04-17 |
2023-08-13 |
Not clear |
| Xiao-Yan Yang, Yan Meng, Yang-Yang Wang, Yan-Ping Lu, Qiu-Hong Wang, Yan-Qin You, Xiao-Xiao Xie, Ling Bai, Nan Fang, Li-Ping Zo. Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study. Molecular genetics & genomic medicine. 2022-04-16. PMID:35429229. |
noninvasive prenatal diagnosis (nipd) based on cell-free dna (cfdna) has been introduced into the clinical application for some monogenic disorders but not for tuberous sclerosis (tsc) yet, which is an autosomal dominant disease caused by various variations in tsc1 or tsc2 gene. |
2022-04-16 |
2023-08-13 |
Not clear |
| Katarzyna Klonowska, Joannes M Grevelink, Krinio Giannikou, Barbara A Ogorek, Zachary T Herbert, Aaron R Thorner, Thomas N Darling, Joel Moss, David J Kwiatkowsk. Ultrasensitive profiling of UV mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex. The Journal of clinical investigation. 2022-03-31. PMID:35358092. |
tuberous sclerosis complex (tsc) is a neurogenetic syndrome due to loss-of-function mutations in tsc2 or tsc1, characterized by tumors at multiple body sites, including facial angiofibroma (faf). |
2022-03-31 |
2023-08-13 |
Not clear |
| Brittany L Dunkerly-Eyring, Shi Pan, Miguel Pinilla-Vera, Desirae McKoy, Sumita Mishra, Maria I Grajeda Martinez, Christian U Oeing, Mark J Ranek, David A Kas. Single serine on TSC2 exerts biased control over mTORC1 activation mediated by ERK1/2 but not Akt. Life science alliance. vol 5. issue 6. 2022-03-15. PMID:35288456. |
tuberous sclerosis complex-2 (tsc2) negatively regulates mammalian target of rapamycin complex 1 (mtorc1), and its activity is reduced by protein kinase b (akt) and extracellular response kinase (erk1/2) phosphorylation to activate mtorc1. |
2022-03-15 |
2023-08-13 |
human |
| Andy J Liu, Jay B Lusk, John Ervin, James Burke, Richard O'Brien, Shih-Hsiu J Wan. Tuberous sclerosis complex is a novel, amyloid-independent tauopathy associated with elevated phosphorylated 3R/4R tau aggregation. Acta neuropathologica communications. vol 10. issue 1. 2022-03-04. PMID:35241183. |
tuberous sclerosis complex (tsc) is a neurodevelopmental disorder caused by mutations in the tsc1 and tsc2 genes and autosomal dominantly inherited. |
2022-03-04 |
2023-08-13 |
Not clear |
| Davide Elia, Olga Torre, Chiara Vasco, Jens Geginat, Sergio Abrignani, Elisabetta Bulgheroni, Elena Carelli, Roberto Cassandro, Gustavo Pacheco-Rodriguez, Wendy K Steagall, Joel Moss, Sergio Harar. Pulmonary Langerhans cell histiocystosis (PLCH) and lymphangioleiomyomatosis (LAM) have circulating cells with loss of heterozygosity of the TSC2 gene. Chest. 2022-03-01. PMID:35231481. |
the neoplastic lam cell has mutations in the tuberous sclerosis complex (tsc) genes, tsc1 or tsc2, whereas the neoplastic plch cell may have mutations in several genes, e.g., braf, nras, map2k1. |
2022-03-01 |
2023-08-13 |
Not clear |