| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| 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 |
| Fanny Joly, Pauline Jeckel, Martin Kriebel, Sanket Raut, Nicole El Massioui, Cyrille Vaillend, Luke R Johnson, Hansjürgen Volkmer, Valérie Doyèr. Disruption of Amygdala Tsc2 in Adolescence Leads to Changed Prelimbic Cellular Activity and Generalized Fear Responses at Adulthood in Rats. Cerebral cortex (New York, N.Y. : 1991). 2022-02-12. PMID:35149865. |
in the present study, we tested whether a partial knock-down of tuberous sclerosis complex 2 (tsc2, tuberin), a risk gene for neurodevelopmental disorders, in the basolateral amygdala (bla) from adolescence could alter fear-network functionality and create a vulnerability ground to frd appearance at adulthood. |
2022-02-12 |
2023-08-13 |
rat |
| Yoshinari Muto, Hitomi Sasaki, Makoto Sumitomo, Hidehito Inagaki, Maki Kato, Takema Kato, Shunsuke Miyai, Hiroki Kurahashi, Ryoichi Shirok. Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Human genome variation. vol 9. issue 1. 2022-02-11. PMID:35145067. |
tuberous sclerosis complex (tsc) is an autosomal dominant disease caused by loss-of-function mutations in either of two tumor suppressor genes, tsc1 and tsc2. |
2022-02-11 |
2023-08-13 |
Not clear |
| Linli Liu, Chunshui Yu, Gaowu Ya. Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report. Medicine. vol 101. issue 3. 2022-01-21. PMID:35060563. |
identification of a novel heterozygous tsc2 splicing variant in a patient with tuberous sclerosis complex: a case report. |
2022-01-21 |
2023-08-13 |
Not clear |
| Sultan Abdulwadoud Alshoabi, Abdullgabbar M Hamid, Fahad H Alhazmi, Abdulaziz A Qurashi, Osamah M Abdulaal, Khaled M Aloufi, Tareef S Daqqa. Diagnostic features of tuberous sclerosis complex: case report and literature review. Quantitative imaging in medicine and surgery. vol 12. issue 1. 2022-01-07. PMID:34993123. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant genetic syndrome that is caused by mutations in the tumour suppressor genes tsc1 or tsc2 which causes multiorgan growths. |
2022-01-07 |
2023-08-13 |
Not clear |
| XueHui Liu, XuFeng Zhang, ShuZhang D. Long non-coding RNA ACTA2-AS1 inhibits the cisplatin resistance of non-small cell lung cancer cells through inhibiting autophagy by suppressing TSC2. Cell cycle (Georgetown, Tex.). 2022-01-05. PMID:34985374. |
rip assay and rna pull down were used to analyze the combination of acta2-as1 and enhancer of zeste homolog 2 (ezh2), and chip was used to analyze the combination of tuberous sclerosis complex-2 (tsc2) gene promoter and lys-27 of histone h3 (h3k27me3). |
2022-01-05 |
2023-08-13 |
human |
| Weiliang Liu, Fang Li, Zhixu He, Rong A. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 39. issue 1. 2021-12-29. PMID:34964971. |
[analysis of a patient with tuberous sclerosis complex due to mosaicism tsc2 mutation]. |
2021-12-29 |
2023-08-13 |
Not clear |
| Weiliang Liu, Fang Li, Zhixu He, Rong A. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 39. issue 1. 2021-12-29. PMID:34964971. |
to analyze variants of tsc1 and tsc2 genes in a chinese patient with tuberous sclerosis complex (tsc). |
2021-12-29 |
2023-08-13 |
Not clear |