| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Pranjali Nibe, Rupali Bavikar, Charusheela Gore, Gayatri Bhuibha. Subependymal Giant Cell Astrocytomas Without Tuberous Sclerosis: A Case Report on a Rare Medical Condition. Cureus. vol 16. issue 7. 2024-08-12. PMID:39130912. |
radiological investigations confirmed the site of the tumor, and a positive expression of thyroid transcription factor 1 in the ganglion cell component, along with the absence of germline mutation in tsc1 and tsc2, led to the final diagnosis of sega without tsc. |
2024-08-12 |
2024-08-14 |
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 |
| 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 |
| 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 |
| 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 |
| Marta Banchi, Tiziana Lanzolla, Arianna Di Napoli, Arianna Bandini, Guido Bocci, Maria Christina Co. Complete Remission of a Diffuse Large B-Cell Lymphoma in a Young Patient, with Severe Tuberous Sclerosis, Treated with Metronomic Chemotherapy and Ibrutinib: A Case Report. Chemotherapy. vol 69. issue 1. 2024-02-26. PMID:37549660. |
tuberous sclerosis (ts) is a rare autosomal dominant genetic multisystem disease caused by mutations in either the tsc1 or tsc2 gene and results in the growth of non-cancerous masses in several organs. |
2024-02-26 |
2024-02-29 |
human |
| Arthur Bandeira de Mello Garcia, Guilherme Danielski Viola, Bruno da Silveira Corrêa, Taís da Silveira Fischer, Maria Clara de Freitas Pinho, Grazielle Motta Rodrigues, Patricia Ashton-Prolla, Clévia Rosse. An overview of actionable and potentially actionable TSC1 and TSC2 germline variants in an online Database. Genetics and molecular biology. vol 46. issue 3 Suppl 1. 2024-02-19. PMID:38373162. |
tuberous sclerosis complex (tsc) is caused by loss of function germline variants in the tsc1 or tsc2 tumor suppressor genes. |
2024-02-19 |
2024-02-22 |
Not clear |
| Paula Basso Dias, Anna Carolina Badotti Linhares, Ana Barbara Dias Lopes Urzedo, Rony Carlos Preti, Leandro Cabral Zacharias, Leonardo Provetti Cunha, Mário Luiz Ribeiro Monteiro, Kenzo Hokazon. Optical coherence tomography detection of retinal neural loss in patients with tuberous sclerosis. International journal of retina and vitreous. vol 10. issue 1. 2024-02-04. PMID:38311784. |
tuberous sclerosis (ts) is a rare, multisystem genetic disease caused by mutations in the tsc1 and tsc2 genes, leading to abnormalities in cell differentiation and proliferation. |
2024-02-04 |
2024-02-07 |
Not clear |
| Seung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Le. Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family. Molecular genetics & genomic medicine. 2024-01-24. PMID:38265426. |
tuberous sclerosis complex (tsc) is an autosomal dominant multisystem disorder, caused by a loss-of-function of either tsc1 or tsc2 gene. |
2024-01-24 |
2024-01-26 |
Not clear |
| Yaewon Yang, Jisun Lee, Chang Gok Woo, Ok-Jun Lee, Seung-Myoung So. Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report. Diagnostic pathology. vol 19. issue 1. 2024-01-19. PMID:38243242. |
most pecomas arise sporadically, but may be associated with tuberous sclerosis complex (tsc), an autosomal dominant genetic disorder characterized by germline mutations in the tsc1 or tsc2 genes. |
2024-01-19 |
2024-01-22 |
Not clear |
| Vasiliki Karalis, Delaney Wood, Nicole A Teaney, Mustafa Sahi. The role of TSC1 and TSC2 proteins in neuronal axons. Molecular psychiatry. 2024-01-11. PMID:38212374. |
tuberous sclerosis complex 1 and 2 proteins, tsc1 and tsc2 respectively, participate in a multiprotein complex with a crucial role for the proper development and function of the nervous system. |
2024-01-11 |
2024-01-14 |
Not clear |
| Vasiliki Karalis, Delaney Wood, Nicole A Teaney, Mustafa Sahi. The role of TSC1 and TSC2 proteins in neuronal axons. Molecular psychiatry. 2024-01-11. PMID:38212374. |
this complex primarily acts as an inhibitor of the mechanistic target of rapamycin (mtor) kinase, and mutations in either tsc1 or tsc2 cause a neurodevelopmental disorder called tuberous sclerosis complex (tsc). |
2024-01-11 |
2024-01-14 |
Not clear |
| Nicola Alesi, Damir Khabibullin, Dean M Rosenthal, Elie W Akl, Pieter M Cory, Michel Alchoueiry, Samer Salem, Melissa Daou, William F Gibbons, Jennifer A Chen, Long Zhang, Harilaos Filippakis, Laura Graciotti, Caterina Miceli, Jlenia Monfregola, Claudia Vilardo, Manrico Morroni, Chiara Di Malta, Gennaro Napolitano, Andrea Ballabio, Elizabeth P Hensk. TFEB drives mTORC1 hyperactivation and kidney disease in Tuberous Sclerosis Complex. Nature communications. vol 15. issue 1. 2024-01-09. PMID:38195686. |
tuberous sclerosis complex (tsc) is caused by tsc1 or tsc2 mutations, leading to hyperactivation of mechanistic target of rapamycin complex 1 (mtorc1) and lesions in multiple organs including lung (lymphangioleiomyomatosis) and kidney (angiomyolipoma and renal cell carcinoma). |
2024-01-09 |
2024-01-13 |
mouse |
| Michał Sobstyl, Paweł Jezierski, Magdalena Konopko, Angelika Stapińska-Synie. Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus. Epilepsy & behavior reports. vol 25. 2023-12-28. PMID:38152567. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes tsc1 or tsc2. |
2023-12-28 |
2023-12-30 |
Not clear |
| D Mammadova, J Vecko, M Hofmann, S C Schüssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollman. A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet journal of rare diseases. vol 18. issue 1. 2023-11-10. PMID:37946245. |
tuberous sclerosis complex (tsc) is a rare multisystem disorder caused by mutations in the tsc1 or tsc2 gene. |
2023-11-10 |
2023-11-20 |
Not clear |
| Inci S Aksoylu, Pauline Martin, Francis Robert, Krzysztof J Szkop, Nicholas E Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Rames. Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations. Molecular autism. vol 14. issue 1. 2023-10-26. PMID:37880800. |
tuberous sclerosis complex (tsc) is an inherited neurocutaneous disorder caused by mutations in the tsc1 or tsc2 genes, with patients often exhibiting neurodevelopmental (nd) manifestations termed tsc-associated neuropsychiatric disorders (tand) including autism spectrum disorder (asd) and intellectual disability. |
2023-10-26 |
2023-11-08 |
Not clear |
| Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronic. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World journal of pediatrics : WJP. 2023-10-25. PMID:37878130. |
tuberous sclerosis complex (tsc) is a genetic disorder caused by inactivating mutations in the tsc1 and tsc2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mtor) signaling pathway in fetal life. |
2023-10-25 |
2023-11-08 |
Not clear |
| Ashwini Sri Hari, Rajeswari Banerji, Li-Ping Liang, Ruth E Fulton, Christopher Quoc Huynh, Timothy Fabisiak, Pallavi Bhuyan McElroy, James R Roede, Manisha Pate. Increasing glutathione levels by a novel posttranslational mechanism inhibits neuronal hyperexcitability. Redox biology. vol 67. 2023-10-01. PMID:37769522. |
furthermore, bso-mediated gsh depletion oxidatively modified the tuberous sclerosis protein complex (tsc) consisting of hamartin (tsc1), tuberin (tsc2), and tbc1 domain family member 7 (tbc1d7) which are critical negative regulators of mtorc1. |
2023-10-01 |
2023-10-07 |
zebrafish |