| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| J Krummeich, L Nardi, C Caliendo, D Aschauer, V Engelhardt, A Arlt, J Maier, F Bicker, M D Kwiatkowski, K Rolski, K Vincze, R Schneider, S Rumpel, S Gerber, M J Schmeisser, S Schweige. Premature cognitive decline in a mouse model of tuberous sclerosis. Aging cell. 2024-08-28. PMID:39192595. |
we here used a mouse model for tuberous sclerosis (ts) carrying a heterozygous deletion of the tsc2 gene. |
2024-08-28 |
2024-08-30 |
mouse |
| Laura S Farach, Melissa A Richard, Aynara C Wulsin, Elizabeth M Bebin, Darcy A Krueger, Mustafa Sahin, Brenda E Porter, Tarrant O McPherson, Jurriaan M Peters, Sarah O'Kelley, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Gary Cutter, Hope Northrup, Kit Sing A. Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. Pediatric neurology. vol 159. 2024-08-14. PMID:39142021. |
drug-resistant epilepsy in tuberous sclerosis complex is associated with tsc2 genotype: more findings from the preventing epilepsy using vigatrin (prevent) trial. |
2024-08-14 |
2024-08-17 |
Not clear |
| Tingrui Chen, Xiaoxiao Wu, Yiping Wan. Case Report: Patent ductus arteriosus with tuberous sclerosis complex. Frontiers in cardiovascular medicine. vol 11. 2024-08-09. PMID:39119187. |
genetic testing was performed using a peripheral venous blood sample, which confirmed the diagnosis of tuberous sclerosis type 2 (tsc2). |
2024-08-09 |
2024-08-12 |
Not clear |
| Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Kan. Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex. Neurogenetics. 2024-08-07. PMID:39110368. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant disorder caused by mutations in the tsc1 or tsc2 gene. |
2024-08-07 |
2024-08-09 |
Not clear |
| Marc Ventayol-Guirado, Laura Torres, Victor Asensio-Landa, Ángeles Pérez-Granero, Maria Isabel Madrid, Jessica Hernandez-Rodriguez, Maria Victoria Llull-Alberti, Javier Lumbreras, Silvia Escribà, Monserrat Pons, Jordi Roldan, Iciar Martínez-López, Damian Heine-Suñer, Fernando Santos-Simarr. Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome. American journal of medical genetics. Part A. 2024-08-03. PMID:39095963. |
tuberous sclerosis complex (tsc) and autosomal dominant polycystic kidney disease (adpkd) are genetically distinct disorders typically associated with pathogenic variants in tsc1 and tsc2 for the former and pkd1 and pkd2 for the latter. |
2024-08-03 |
2024-08-06 |
Not clear |
| Ruhi Haqqani, Sidra Rana, Nayeem Sadath Haneef, Omar Farooq, Vadlamudi Raghavendra Ra. Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex. Indian dermatology online journal. vol 15. issue 4. 2024-07-26. PMID:39050051. |
novel stop-gain tsc2 gene mutation in an indian child of tuberous sclerosis complex. |
2024-07-26 |
2024-07-28 |
Not clear |
| Mariana L Pais, João Martins, Miguel Castelo-Branco, Joana Gonçalve. Increased susceptibility to kainate-induced seizures in a mouse model of tuberous sclerosis complex: Importance of sex and circadian cycle. Epilepsia open. 2024-07-16. PMID:39010669. |
comorbidity of epilepsy and autism in tuberous sclerosis complex 2 (tsc2) is very frequent, but the link between these conditions is still poorly understood. |
2024-07-16 |
2024-07-18 |
mouse |
| Shiming Li, Jianfeng Li, Guoliang Chen, Tao Lin, Penghui Zhang, Kuileung Tong, Ningning Chen, Shaoyu Li. Exosomes originating from neural stem cells undergoing necroptosis participate in cellular communication by inducing TSC2 upregulation of recipient cells following spinal cord injury. Neural regeneration research. 2024-07-12. PMID:38993124. |
construction of a competing endogenous rna network identified the following hub genes: tuberous sclerosis 2 (tsc2), solute carrier family 16 member 3 (slc16a3), and forkhead box protein p1 (foxpl). |
2024-07-12 |
2024-07-14 |
mouse |
| Yi-Han Chang, Kwang-Yu Chang, Chao-Hsuan Li, Pei-Lung Chen, John A McGrath, Chao-Kai Hs. Delayed diagnosis of tuberous sclerosis complex: unveiling low-level TSC2 mosaicism using targeted next-generation sequencing. Clinical and experimental dermatology. 2024-07-06. PMID:38970490. |
delayed diagnosis of tuberous sclerosis complex: unveiling low-level tsc2 mosaicism using targeted next-generation sequencing. |
2024-07-06 |
2024-07-12 |
Not clear |
| Nuo Chen, Xiaoyu Wang, Yaxin Guo, Ming Zhao, Baihui Cao, Bing Zhan, Yubin Li, Tian Zhou, Faliang Zhu, Chun Guo, Yongyu Shi, Qun Wang, Lining Zhang, Yan L. IL-37d suppresses Rheb-mTORC1 axis independently of TCS2 to alleviate alcoholic liver disease. Communications biology. vol 7. issue 1. 2024-06-21. PMID:38907105. |
tuberous sclerosis complex 2 (tsc2) crucially suppresses rheb activity to prevent mtorc1 activation. |
2024-06-21 |
2024-06-24 |
human |
| b' Patricia Marqu\xe9s, Jes\xfas Burillo, Carlos Gonz\xe1lez-Blanco, Beatriz Jim\xe9nez, Gema Garc\xeda, Ana Garc\xeda-Aguilar, Sarai Iglesias-Fortes, \xc1ngela Lockwood, Carlos Guill\xe9. Regulation of TSC2 lysosome translocation and mitochondrial turnover by TSC2 acetylation status. Scientific reports. vol 14. issue 1. 2024-05-31. PMID:38822085.' |
sirtuin1 (sirt1) activity decreases the tuberous sclerosis complex 2 (tsc2) lysine acetylation status, inhibiting the mechanistic target of rapamycin complex 1 (mtorc1) signalling and concomitantly, activating autophagy. |
2024-05-31 |
2024-06-02 |
mouse |
| Vincent Milon, Marie-Claire Malinge, Maud Blanluet, Marine Tessarech, Clarisse Battault, Sarah Prestwich, Béatrice Vary, Pierre Gueracher, Louis Legoff, Magalie Barth, Clara Houdayer, Agnès Guichet, Audrey Rousseau, Dominique Bonneau, Vincent Procaccio, Céline Bris, Estelle Coli. Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature. European journal of human genetics : EJHG. 2024-05-28. PMID:38806662. |
tuberous sclerosis complex (tsc) is a rare multisystemic disorder caused by a pathogenic variant in the tsc1 or tsc2 gene. |
2024-05-28 |
2024-06-03 |
Not clear |
| Cassie Liu, Subodh M Lele, Martin H Goodenberger, Gwendolyn M Reiser, Andrew J Christiansen, James C Padussi. Malignant tumors in tuberous sclerosis complex: a case report and review of the literature. BMC medical genomics. vol 17. issue 1. 2024-05-28. PMID:38802873. |
tuberous sclerosis complex (tsc) is a rare, autosomal dominant genetic disease that arises from tsc1 or tsc2 genetic mutations. |
2024-05-28 |
2024-05-31 |
Not clear |
| Jiahui Fu, Peili Liang, Yingchun Zheng, Cailing Xu, Fu Xiong, Fang Yan. Corrigendum to "A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K_AKT_mTOR signaling pathway" [GENE909 (2024) 148312/D-23-04187]. Gene. vol 919. 2024-04-30. PMID:38685184. |
corrigendum to "a large deletion in tsc2 causes tuberous sclerosis complex by dysregulating pi3k_akt_mtor signaling pathway" [gene909 (2024) 148312/d-23-04187]. |
2024-04-30 |
2024-05-03 |
Not clear |
| 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 |