| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Philip H Iffland, Allan E Barnes, Marianna Baybis, Peter B Crin. Dynamic analysis of 4E-BP1 phosphorylation in neurons with Tsc2 or Depdc5 knockout. Experimental neurology. vol 334. 2021-03-10. PMID:32781001. |
tsc1 or tsc2 mutations cause tuberous sclerosis complex (tsc), and lead to mechanistic target of rapamycin (mtor) hyperactivation evidenced by hyperphosphorylation of ribosomal s6 protein and 4-elongation factor binding protein 1 (4e-bp1). |
2021-03-10 |
2023-08-13 |
Not clear |
| Lucy Corlette, Amy Reid, Samuel Roberts-Thomson, Michael Christie, Frank Gaillar. Solitary subependymal giant cell astrocytoma: Case report and review of the literature. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 82. issue Pt A. 2021-03-08. PMID:33317733. |
tuberous sclerosis complex (tsc) is a multisystem autosomal dominant hamartoma syndrome caused by mutations in tsc1 or tsc2 genes, leading to upregulation of cell growth signalling pathways. |
2021-03-08 |
2023-08-13 |
Not clear |
| Angelika Mühlebner, Jackelien van Scheppingen, Andrew de Neef, Anika Bongaarts, Till S Zimmer, James D Mills, Floor E Jansen, Wim G M Spliet, Pavel Krsek, Josef Zamecnik, Roland Coras, Ingmar Blumcke, Martha Feucht, Theresa Scholl, Victoria-Elisabeth Gruber, Johannes A Hainfellner, Figen Söylemezoğlu, Katarzyna Kotulska, Lieven Lagae, Anna C Jansen, David J Kwiatkowski, Sergiusz Jozwiak, Paolo Curatolo, Eleonora Aronic. Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers. Journal of neuropathology and experimental neurology. vol 79. issue 10. 2021-03-01. PMID:32954437. |
tuberous sclerosis complex (tsc) is a monogenetic disease that arises due to mutations in either the tsc1 or tsc2 gene and affects multiple organ systems. |
2021-03-01 |
2023-08-13 |
Not clear |
| Klenam Dzefi-Tettey, Emmanuel K Edzie, Philip Gorleku, Albert D Piersson, Obed Cudjo. Tuberous Sclerosis: A Case Report and Review of the Literature. Cureus. vol 13. issue 1. 2021-02-10. PMID:33552794. |
mutations on either of the two genes tuberous sclerosis complex 1 (tsc1) or tuberous sclerosis complex 2 (tsc2) play a role and result in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs, and liver. |
2021-02-10 |
2023-08-13 |
Not clear |
| Takenori Kotani, Jajar Setiawan, Tasuku Konno, Noriko Ihara, Saki Okamoto, Yasuyuki Saito, Yoji Murata, Tetsuo Noda, Takashi Matozak. Regulation of colonic epithelial cell homeostasis by mTORC1. Scientific reports. vol 10. issue 1. 2021-02-09. PMID:32796887. |
we here show that ablation of tuberous sclerosis complex 2 (tsc2), a negative regulator of mtorc1, specifically in intestinal epithelial cells of mice resulted in increased activity of mtorc1 of, as well as increased proliferative activity of, cecs. |
2021-02-09 |
2023-08-13 |
mouse |
| Romina Moavero, Angelika Mühlebner, Mark Jasper Luinenburg, Dana Craiu, Eleonora Aronica, Paolo Curatol. Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway. Epilepsy & behavior : E&B. 2021-01-12. PMID:33431351. |
tuberous sclerosis complex (tsc) is a genetic multisystem disease due to the mutation in one of the two genes tsc1 and tsc2, affecting several organs and systems and carrying a significant risk of early onset and refractory seizures. |
2021-01-12 |
2023-08-13 |
Not clear |
| Valérie Mongrain, Nicolaas H van Doesburg, Françoise Rypens, Catherine Fallet-Bianco, Justine Maassen, Julien Dufort-Gervais, Lucie Côté, Philippe Majo. A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene. BMC neurology. vol 20. issue 1. 2020-12-08. PMID:32873234. |
a case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the tsc2 gene. |
2020-12-08 |
2023-08-13 |
Not clear |
| Valérie Mongrain, Nicolaas H van Doesburg, Françoise Rypens, Catherine Fallet-Bianco, Justine Maassen, Julien Dufort-Gervais, Lucie Côté, Philippe Majo. A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene. BMC neurology. vol 20. issue 1. 2020-12-08. PMID:32873234. |
in this report, we describe a case of severe tsc diagnosed in utero and associated with a specific mutation in the gene tuberous sclerosis complex 2 (tsc2). |
2020-12-08 |
2023-08-13 |
Not clear |
| Sunil Pancholi, Ricardo Ribas, Nikiana Simigdala, Eugene Schuster, Joanna Nikitorowicz-Buniak, Anna Ressa, Qiong Gao, Mariana Ferreira Leal, Amandeep Bhamra, Allan Thornhill, Ludivine Morisset, Elodie Montaudon, Laura Sourd, Martin Fitzpatrick, Maarten Altelaar, Stephen R Johnston, Elisabetta Marangoni, Mitch Dowsett, Lesley-Ann Marti. Tumour kinome re-wiring governs resistance to palbociclib in oestrogen receptor positive breast cancers, highlighting new therapeutic modalities. Oncogene. vol 39. issue 25. 2020-12-07. PMID:32307447. |
persistent cdk4 blockade decreased phosphorylation of tuberous sclerosis complex 2 (tsc2) enhancing egfr signalling, leading to the re-wiring of er. |
2020-12-07 |
2023-08-13 |
Not clear |
| Thomas Rosengren, Santoesha Nanhoe, Luis Gustavo Dufner de Almeida, Bitten Schönewolf-Greulich, Lasse Jonsgaard Larsen, Caroline Amalie Brunbjerg Hey, Morten Dunø, Jakob Ek, Lotte Risom, Mark Nellist, Lisbeth Birk Mølle. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex. Scientific reports. vol 10. issue 1. 2020-12-07. PMID:32555378. |
mutational analysis of tsc1 and tsc2 in danish patients with tuberous sclerosis complex. |
2020-12-07 |
2023-08-13 |
Not clear |
| Anika Bongaarts, Jody M de Jong, Diede W M Broekaart, Jackelien van Scheppingen, Jasper J Anink, Caroline Mijnsbergen, Floor E Jansen, Wim G M Spliet, Wilfred F A den Dunnen, Victoria E Gruber, Theresa Scholl, Johannes A Hainfellner, Martha Feucht, Julita Borkowska, Katarzyna Kotulska, Sergiusz Jozwiak, Wieslawa Grajkowska, Anna Maria Buccoliero, Chiara Caporalini, Flavio Giordano, Lorenzo Genitori, Brendon P Scicluna, Antoinette Y N Schouten-van Meeteren, Erwin A van Vliet, Angelika Mühlebner, James D Mills, Eleonora Aronic. Dysregulation of the MMP/TIMP Proteolytic System in Subependymal Giant Cell Astrocytomas in Patients With Tuberous Sclerosis Complex: Modulation of MMP by MicroRNA-320d In Vitro. Journal of neuropathology and experimental neurology. vol 79. issue 7. 2020-11-30. PMID:32472129. |
tuberous sclerosis complex (tsc), a rare genetic disorder caused by a mutation in the tsc1 or tsc2 gene, is characterized by the growth of hamartomas in several organs. |
2020-11-30 |
2023-08-13 |
human |
| Yan-Long Tang, Cheng-Gui Zhang, Heng Liu, Yue Zhou, Ya-Ping Wang, Yuan Li, Yan-Jun Han, Cui-Li Wan. Ginsenoside Rg1 Inhibits Cell Proliferation and Induces Markers of Cell Senescence in CD34+CD38- Leukemia Stem Cells Derived from KG1α Acute Myeloid Leukemia Cells by Activating the Sirtuin 1 (SIRT1)/Tuberous Sclerosis Complex 2 (TSC2) Signaling Pathway. Medical science monitor : international medical journal of experimental and clinical research. vol 26. 2020-11-24. PMID:32037392. |
expression of sirtuin 1 (sirt1) and tuberous sclerosis complex 2 (tsc2) were evaluated using western blot and quantitative reverse transcription-polymerase chain reaction (qrt-pcr). |
2020-11-24 |
2023-08-13 |
human |
| Marine Tessarech, Marie-Claire Malinge, Virginie Carmignac, Pierre Vabres, Florence Peti. Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex. American journal of medical genetics. Part A. vol 182. issue 11. 2020-11-20. PMID:32804443. |
limb overgrowth associated with a mosaic tsc2 second-hit in tuberous sclerosis complex. |
2020-11-20 |
2023-08-13 |
Not clear |
| Maria Sundberg, Mustafa Sahi. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. Advances in neurobiology. vol 25. 2020-11-09. PMID:32578142. |
tuberous sclerosis complex (tsc) is a rare genetic disorder that is caused by mutations in tsc1 or tsc2. |
2020-11-09 |
2023-08-13 |
human |
| Jong-Mok Lee, Ju-Hyun Kim, Seock Hwan Cho. Tuberous sclerosis complex case series with novel duplication mutations of TSC2. Clinical neurology and neurosurgery. vol 186. 2020-11-04. PMID:31542468. |
tuberous sclerosis complex case series with novel duplication mutations of tsc2. |
2020-11-04 |
2023-08-13 |
Not clear |
| Yicong Ye, Yong Zen. Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex. Scientific reports. vol 9. issue 1. 2020-11-02. PMID:30872599. |
whole exome sequencing identifies a novel intron heterozygous mutation in tsc2 responsible for tuberous sclerosis complex. |
2020-11-02 |
2023-08-13 |
human |
| Shunzhi He, Na Lv, Hongchu Bao, Xiong Wang, Jing L. A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex. BMC medical genetics. vol 21. issue 1. 2020-11-02. PMID:32917147. |
a novel tsc2 c.4511 t > c missense variant associated with tuberous sclerosis complex. |
2020-11-02 |
2023-08-13 |
Not clear |
| Suna Emir, Şadan Hacısalihoğlu, Derya Özyörük, Filiz Ekici, Aydan Değerliyurt, Alev Güven, İlker Çeti. Assessment of tumors in children with tuberous sclerosis: a single centre's experience. Turk pediatri arsivi. vol 52. issue 1. 2020-10-01. PMID:28439198. |
as a result of mutations in tsc1 (9q34) and tsc2 (16p13.3) tumor supressor genes, the mammalian target of the rapamycin (mtor) signaling pathway is overactivated in patients with tuberous sclerosis. |
2020-10-01 |
2023-08-13 |
Not clear |
| Susana Boronat, Ignasi Barber, Elizabeth Anne Thiel. Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study. American journal of medical genetics. Part A. vol 173. issue 7. 2020-10-01. PMID:28488386. |
tuberous sclerosis complex (tsc) is due to pathogenic variants in tsc1 or tsc2 genes resulting in hyperactivation of the mtor pathway. |
2020-10-01 |
2023-08-13 |
Not clear |
| Zixuan Zhang, Mengzhao Wan. PI3K/AKT/mTOR pathway in pulmonary carcinoid tumours. Oncology letters. vol 14. issue 2. 2020-10-01. PMID:28789352. |
in total, 4 missense mutations were found in 3 patients with tc/ac, including mutations in exon 48 of mtor (c.6667c>t), exon 21 of tuberous sclerosis complex (tsc) 1 (c.2765g>a), and exons 12 (c.1265c>t) and 19 (c.2148c>t) of tsc2. |
2020-10-01 |
2023-08-13 |
Not clear |