| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Silvia Ancona, Emanuela Orpianesi, Clara Bernardelli, Eloisa Chiaramonte, Raffaella Chiaramonte, Silvia Terraneo, Fabiano Di Marco, Elena Lesm. Differential Modulation of Matrix Metalloproteinases-2 and -7 in LAM/TSC Cells. Biomedicines. vol 9. issue 12. 2021-12-24. PMID:34944575. |
lam cells, characterized by a mutation in the tuberous sclerosis complex (tsc)1 or tsc2, promote cystic lung destruction. |
2021-12-24 |
2023-08-13 |
mouse |
| Linda Mc Koene, Eva Niggl, Ilse Wallaard, Martina Proietti-Onori, Diana C Rotaru, Ype Elgersm. Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis. JCI insight. vol 6. issue 23. 2021-12-08. PMID:34877936. |
tuberous sclerosis complex (tsc), caused by heterozygous mutations in tsc1 or tsc2, frequently results in intractable epilepsy. |
2021-12-08 |
2023-08-13 |
mouse |
| Selma Demir, Sinem Yalçıntepe, Engin Atlı, Yelda Yalçın, Emine İkbal Atlı, Damla Eker, Yasemin Karal, Hakan Gürka. Comprehensive Genetic Analysis Results of TSC1/TSC2 Genes in Patients with Clinical Suspicion of Tuberous Sclerosis Complex and Definition of 3 Novel Variants. Balkan medical journal. vol 38. issue 6. 2021-12-06. PMID:34860161. |
defects in either tsc1 (* 605284) or tsc2 (* 191092) genes encoding the components of the tuberous sclerosis complex are responsible for the disease. |
2021-12-06 |
2023-08-13 |
Not clear |
| Wei Lin, Xiaofeng Wan, Anjiang Sun, Meng Zhou, Xu Chen, Yanling Li, Zixi Wang, Hailiang Huang, Hongwu Li, Xianguo Chen, Juan Hua, Xiaojun Zh. RUNX1/EGFR pathway contributes to STAT3 activation and tumor growth caused by hyperactivated mTORC1. Molecular therapy oncolytics. vol 23. 2021-12-03. PMID:34853810. |
loss of function of tuberous sclerosis complex 1 or 2 (tsc1 or tsc2) leads to the activation of mammalian target of rapamycin complex 1 (mtorc1). |
2021-12-03 |
2023-08-13 |
mouse |
| Shan Wu, Yi Guo, Chun Liu, Qingxiang Liu, Hao Deng, Lamei Yua. Identification of a de novo TSC2 variant in a Han-Chinese family with tuberous sclerosis complex. Journal of the Chinese Medical Association : JCMA. vol 84. issue 1. 2021-11-29. PMID:33177398. |
identification of a de novo tsc2 variant in a han-chinese family with tuberous sclerosis complex. |
2021-11-29 |
2023-08-13 |
Not clear |
| Mingqiang Lai, Wenchong Zou, Zelong Han, Ling Zhou, Zeyou Qiu, Juan Chen, Sheng Zhang, Pinglin Lai, Kai Li, Yue Zhang, Li Liang, Yu Jiang, Zhipeng Zou, Xiaochun Ba. Tsc1 regulates tight junction independent of mTORC1. Proceedings of the National Academy of Sciences of the United States of America. vol 118. issue 30. 2021-11-25. PMID:34301883. |
tuberous sclerosis complex 1 (tsc1) is a tumor suppressor that functions together with tsc2 to negatively regulate the mechanistic target of rapamycin complex 1 (mtorc1) activity. |
2021-11-25 |
2023-08-13 |
mouse |
| P Pfirmann, C Combe, C Rigothie. [Tuberous sclerosis complex: A review]. La Revue de medecine interne. vol 42. issue 10. 2021-11-24. PMID:33836894. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder that affects different organs and caused by loss-of-function mutations in one of two genes: tsc1 or tsc2. |
2021-11-24 |
2023-08-13 |
Not clear |
| Héctor Hugo Manzanilla-Romero, Denisa Weis, Simon Schnaiter, Sabine Rudnik-Schönebor. Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways. American journal of medical genetics. Part A. vol 185. issue 12. 2021-11-24. PMID:34328706. |
tuberous sclerosis complex (tsc) is an autosomal dominant neurocutaneous syndrome caused by either tsc1 or tsc2 gene mutations. |
2021-11-24 |
2023-08-13 |
Not clear |
| Ancy Thomas, Saurav Sumughan, Emilia R Dellacecca, Rohan S Shivde, Nicola Lancki, Zhussipbek Mukhatayev, Cristina C Vaca, Fei Han, Levi Barse, Steven W Henning, Jesus Zamora-Pineda, Suhail Akhtar, Nikhilesh Gupta, Jasmine O Zahid, Stephanie R Zack, Prathyaya Ramesh, Dinesh Jaishankar, Agnes Sy Lo, Joel Moss, Maria M Picken, Thomas N Darling, Denise M Scholtens, Daniel F Dilling, Richard P Junghans, I Caroline Le Pool. Benign tumors in TSC are amenable to treatment by GD3 CAR T cells in mice. JCI insight. vol 6. issue 22. 2021-11-22. PMID:34806651. |
mutations underlying disease in tuberous sclerosis complex (tsc) give rise to tumors with biallelic mutations in tsc1 or tsc2 and hyperactive mammalian target of rapamycin complex 1 (mtorc1). |
2021-11-22 |
2023-08-13 |
mouse |
| Siyu Wang, Hairui Sun, Jianbin Wang, Xiaoyan Gu, Lu Han, Yuduo Wu, He Yan, Ling Han, Hongjia Zhang, Yihua H. Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing. Molecular genetics & genomic medicine. vol 9. issue 10. 2021-11-18. PMID:34480426. |
fetal cardiac rhabdomyoma (cr) is strongly associated with tuberous sclerosis complex (tsc), which is caused by variants in tsc1 and tsc2. |
2021-11-18 |
2023-08-13 |
Not clear |
| Kaoru Kuroda, Kunihiko Moriya, Tomohiro Nakano, Ryoko Saito, Daichi Sato, Saori Katayama, Hidetaka Niizuma, Munenori Watanuki, Mitsugu Uematsu, Yoji Sasahara, Shigeo Kur. A pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the TSC2 gene and a somatic mutation in the TP53 gene. Pediatric blood & cancer. vol 68. issue 6. 2021-11-16. PMID:33694273. |
a pediatric case of osteosarcoma and tuberous sclerosis complex with a novel germline mutation in the tsc2 gene and a somatic mutation in the tp53 gene. |
2021-11-16 |
2023-08-13 |
Not clear |
| Ying Wang, Chunjia Li, Yanzhuo Zhang, Xiaojun Zha, Hongbing Zhang, Zhongdong Hu, Chengai W. Aberrant mTOR/autophagy/Nurr1 signaling is critical for TSC-associated tumor development. Biochemistry and cell biology = Biochimie et biologie cellulaire. vol 99. issue 5. 2021-11-15. PMID:34463540. |
tuberous sclerosis complex (tsc), an inherited neurocutaneous disease, is caused by mutations in either the tsc1 or tsc2 gene. |
2021-11-15 |
2023-08-13 |
mouse |
| Ting Ye, Liwen Feng, Miao Peng, Siyue Yuan, Yuting Chen, Xi Liu, Jing Che. Tuberous sclerosis complex misdiagnosed as multiple metastases in a cervical cancer patient: case report and literature review. Annals of palliative medicine. vol 10. issue 10. 2021-11-15. PMID:34763482. |
tuberous sclerosis complex (tsc) is an autosomal dominant disorder that affects multiple organs and is caused by inactive mutations in the tsc1 or tsc2 genes. |
2021-11-15 |
2023-08-13 |
Not clear |
| Yuta Takanezawa, Shogo Tanabe, Daiki Kato, Rie Ozeki, Masayo Komoda, Tatsunori Suzuki, Hiroko Baba, Rieko Muramats. Microglial ASD-related genes are involved in oligodendrocyte differentiation. Scientific reports. vol 11. issue 1. 2021-11-11. PMID:34497307. |
autism spectrum disorders (asd) are associated with mutations of chromodomain-helicase dna-binding protein 8 (chd8) and tuberous sclerosis complex 2 (tsc2). |
2021-11-11 |
2023-08-13 |
Not clear |
| Viera Kútna, Valerie B O'Leary, Ehren Newman, Cyril Hoschl, Saak V Ovsepia. Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes. Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. vol 18. issue 2. 2021-11-02. PMID:33398801. |
tuberous sclerosis complex (tsc) is a dominant autosomal genetic disorder caused by loss-of-function mutations in tsc1 and tsc2, which lead to constitutive activation of the mammalian target of rapamycin c1 (mtorc1) with its decoupling from regulatory inputs. |
2021-11-02 |
2023-08-13 |
human |
| Hajime Miyata, Soichiro Fushimi, Yoko Ota, Harry V Vinters, Kaori Adachi, Eiji Nanba, Tomoyuki Akiyam. Isolated cortical tuber in an infant with genetically confirmed tuberous sclerosis complex 1 presenting with symptomatic West syndrome. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 41. issue 1. 2021-10-28. PMID:33181865. |
tuberous sclerosis complex (tsc) is an autosomal dominant hereditary disorder caused by mutations in either tsc1 on chromosome 16 or tsc2 on chromosome 9, clinically characterized mainly by facial angiofibroma, epilepsy, and intellectual disability. |
2021-10-28 |
2023-08-13 |
Not clear |
| Anika Bongaarts, Caroline Mijnsbergen, Jasper J Anink, Floor E Jansen, Wim G M Spliet, Wilfred F A den Dunnen, Roland Coras, Ingmar Blümcke, Werner Paulus, Victoria E Gruber, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Figen Söylemezoğlu, José Pimentel, David T W Jones, Brendon P Scicluna, Antoinette Y N Schouten-van Meeteren, Angelika Mühlebner, James D Mills, Eleonora Aronic. Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. Cellular and molecular neurobiology. 2021-10-28. PMID:34709498. |
tuberous sclerosis complex (tsc) is a monogenic disorder caused by mutations in either the tsc1 or tsc2 gene, two key regulators of the mechanistic target of the rapamycin complex pathway. |
2021-10-28 |
2023-08-13 |
Not clear |
| Clévia Rosset, Mariane da Cunha Jaeger, Eduardo Filippi-Chiela, Larissa Brussa Reis, Ivaine Taís Sauthier Sartor, Cristina Brinckmann Oliveira Netto, Caroline Brunetto de Farias, Rafael Roesler, Patricia Ashton-Proll. Primary cells derived from Tuberous Sclerosis Complex patients show autophagy alteration in the haploinsufficiency state. Genetics and molecular biology. vol 44. issue 4. 2021-10-23. PMID:34609442. |
tuberous sclerosis complex (tsc) is an autosomal dominant cancer predisposition disorder caused by heterozygous mutations in tsc1 or tsc2 genes and characterized by mtorc1 hyperactivation. |
2021-10-23 |
2023-08-13 |
Not clear |
| Till S Zimmer, Anatoly Korotkov, Susan Zwakenberg, Floor E Jansen, Fried J T Zwartkruis, Nicholas R Rensing, Michael Wong, Angelika Mühlebner, Erwin A van Vliet, Eleonora Aronica, James D Mill. Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress. Brain pathology (Zurich, Switzerland). vol 31. issue 5. 2021-10-13. PMID:33786950. |
tuberous sclerosis complex (tsc) is a congenital disorder characterized by cortical malformations and concomitant epilepsy caused by loss-of-function mutations in the mtor suppressors tsc1 or tsc2. |
2021-10-13 |
2023-08-13 |
Not clear |
| Anna Caliò, Matteo Brunelli, Diego Segala, Giuseppe Zamboni, Franco Bonetti, Maurizio Pea, Guido Martignon. Angiomyolipoma of the kidney: from simple hamartoma to complex tumour. Pathology. vol 53. issue 1. 2021-10-04. PMID:33131798. |
angiomyolipoma can occur in patients with tuberous sclerosis, a hereditary syndrome due to the alteration of tsc1 or tsc2 genes, or sporadically. |
2021-10-04 |
2023-08-13 |
Not clear |