| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chao Wang, Jin-Xia Zhai, Yong-Jun Che. Identification of a novel TSC1 variant in a family with developmental and epileptic encephalopathies: A case report and literature review. Medicine. vol 103. issue 42. 2024-10-21. PMID:39432612. |
tuberous sclerosis (tsc) is an autosomal dominant neurocutaneous syndrome resulting from mutations in the tumor suppressor genes tsc1 and tsc2. |
2024-10-21 |
2024-10-24 |
Not clear |
| Kristen H Arredondo, Kristina Jülich, E Steve Roac. Tuberous sclerosis complex: Diagnostic features, surveillance, and therapeutic strategies. Seminars in pediatric neurology. vol 51. 2024-10-10. PMID:39389658. |
tuberous sclerosis complex (tsc) is a rare neurocutaneous disorder of mtor pathway dysregulation resulting from pathogenic variants in the tsc1 or tsc2 genes. |
2024-10-10 |
2024-10-13 |
Not clear |
| Yann Cormerais, Samuel C Lapp, Krystle C Kalafut, Madi Y Cissé, Jong Shin, Benjamin Stefadu, Jean Personnaz, Sandra Schrotter, Angelica D'Amore, Emma R Martin, Catherine L Salussolia, Mustafa Sahin, Suchithra Menon, Vanessa Byles, Brendan D Mannin. AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth. bioRxiv : the preprint server for biology. 2024-10-10. PMID:39386441. |
here, we characterize a genetic mouse model lacking the 5 phosphorylation sites on the tuberous sclerosis complex 2 (tsc2) protein through which the growth factor-stimulated protein kinase akt can active mtorc1 signaling in cell culture models. |
2024-10-10 |
2024-10-12 |
mouse |
| Alice Man, Matteo Di Scipio, Breanne Dale, Paula Teixeira Marques, Cynthia Sloan Birbeck, Puneet Jain, Elisabetta Trinari, Resham Ejaz, Robyn Whitne. Severe Epilepsy in an Individual With a TSC2 R905Q Variant Prompting Late Diagnosis in Affected Family Members. Pediatric neurology. vol 161. 2024-10-09. PMID:39383590. |
tuberous sclerosis complex (tsc) is a multisystemic disorder caused by inactivating variants in the mtor pathway inhibitor genes tsc1 and tsc2. |
2024-10-09 |
2024-10-12 |
Not clear |
| Shuyun Zhao, Shuai Hao, Jiasheng Zhou, Xinran Chen, Tianhua Zhang, Zhaolai Qi, Ting Zhang, Sajid Jalal, Chuanxin Zhai, Lu Yin, Yufei Bo, Hongming Teng, Yue Wang, Dongyan Gao, Hongbing Zhang, Lin Huan. mTOR/miR-142-3p/PRAS40 signaling cascade is critical for tuberous sclerosis complex-associated renal cystogenesis. Cellular & molecular biology letters. vol 29. issue 1. 2024-09-28. PMID:39333852. |
patients with tuberous sclerosis complex (tsc) develop renal cysts and/or angiomyolipomas (amls) due to inactive mutations of either tsc1 or tsc2 and consequential mtor hyperactivation. |
2024-09-28 |
2024-10-01 |
Not clear |
| Elena Conte, Brigida Boccanegra, Giorgia Dinoi, Michael Pusch, Annamaria De Luca, Antonella Liantonio, Paola Imbric. Therapeutic Approaches to Tuberous Sclerosis Complex: From Available Therapies to Promising Drug Targets. Biomolecules. vol 14. issue 9. 2024-09-28. PMID:39334956. |
tuberous sclerosis complex (tsc) is a rare multisystem disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes tsc1 and tsc2 encoding the tuberin and hamartin proteins, respectively. |
2024-09-28 |
2024-10-01 |
Not clear |
| Kazuhiko Hashimoto, Takuya Hayashida, Yoshikazu Otsubo, Yo Niida, Sumito Datek. Progressive Polycystic Kidney Disease in an Infant Girl With TSC2/PKD1 Contiguous Gene Syndrome. Cureus. vol 16. issue 8. 2024-09-26. PMID:39323690. |
tsc2/pkd1 contiguous gene syndrome is caused by deletions involving the tsc2 and pkd1 genes that lead to tuberous sclerosis complex and autosomal dominant polycystic kidney disease. |
2024-09-26 |
2024-09-28 |
Not clear |
| 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 |