| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Stéphane Auvin, John J Bissler, Vincent Cottin, Ayataka Fujimoto, Günther F L Hofbauer, Anna C Jansen, Sergiusz Jóźwiak, Larissa Kerecuk, J Christopher Kingswood, Romina Moavero, Roser Torra, Vicente Villanuev. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet journal of rare diseases. vol 14. issue 1. 2019-11-25. PMID:31039793. |
tuberous sclerosis complex (tsc) is a rare autosomal dominant genetic disorder associated with mutations in tsc1 and tsc2 genes, upregulation of mammalian target of rapamycin signaling, and subsequent tumor formation in various organs. |
2019-11-25 |
2023-08-13 |
Not clear |
| Joanna Trelinska, Wojciech Fendler, Iwona Dachowska, Katarzyna Kotulska, Sergiusz Jozwiak, Karolina Antosik, Piotr Gnys, Maciej Borowiec, Wojciech Mlynarsk. Abnormal serum microRNA profiles in tuberous sclerosis are normalized during treatment with everolimus: possible clinical implications. Orphanet journal of rare diseases. vol 11. issue 1. 2019-11-20. PMID:27680012. |
tuberous sclerosis (tsc) is a monogenic disease resulting from defects of the tsc1 or tsc2 genes, which encode the proteins forming hamartin-tuberin tumor suppressor complex, the mammalian target of rapamycin complex (mtor). |
2019-11-20 |
2023-08-13 |
Not clear |
| Mitsunori Miyazaki, Tohru Takemas. TSC2/Rheb signaling mediates ERK-dependent regulation of mTORC1 activity in C2C12 myoblasts. FEBS open bio. vol 7. issue 3. 2019-11-20. PMID:28286738. |
treatment with phorbol-12-myristate-13-acetate (pma), a potent agonist of protein kinase c (pkc) and its downstream effector in the mek/erk-dependent pathway, resulted in the activation of mtorc1 signaling and phosphorylation of the upstream regulator tuberous sclerosis 2 (tsc2) in c2c12 myoblasts. |
2019-11-20 |
2023-08-13 |
Not clear |
| Ashyad Rayhan, Adam Faller, Ryan Chevalier, Alannah Mattice, Jim Karagianni. Using genetic buffering relationships identified in fission yeast to reveal susceptibilities in cells lacking hamartin or tuberin function. Biology open. vol 7. issue 1. 2019-11-20. PMID:29343513. |
tuberous sclerosis complex is an autosomal dominant disorder characterized by benign tumors arising from the abnormal activation of mtor signaling in cells lacking tsc1 (hamartin) or tsc2 (tuberin) activity. |
2019-11-20 |
2023-08-13 |
Not clear |
| Yu Zhang, Hang Zhou, Yongjun Tao, Xingyu Liu, Zhu Yuan, Chunlai Ni. ARD1 contributes to IKKβ-mediated breast cancer tumorigenesis. Cell death & disease. vol 9. issue 9. 2019-11-15. PMID:30154412. |
ard1 prevents mtor activity and breast cancer cell growth by stabilizing tuberous sclerosis complex 2 (tsc2) to induce autophagy. |
2019-11-15 |
2023-08-13 |
Not clear |
| Lauren J McEneaney, Andrew R Te. Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies. Advances in genetics. vol 103. 2019-11-07. PMID:30904097. |
tuberous sclerosis complex (tsc) is a rare, autosomal dominant genetic condition caused by a mutation in either the tsc1 or tsc2 gene. |
2019-11-07 |
2023-08-13 |
Not clear |
| Shide Zhang, Zhanxiang Wang, Rong Lin, Jingjun Zha. [Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 36. issue 10. 2019-10-31. PMID:31598936. |
to analyze the clinical phenotype of a chinese pedigree affected with tuberous sclerosis complex (tsc) and explore pathogenic mutations of tsc1 and tsc2 gene. |
2019-10-31 |
2023-08-13 |
Not clear |
| Yi Li, Matthew J Barkovich, Celeste M Karch, Ryan M Nillo, Chun-Chieh Fan, Iris J Broce, Chin Hong Tan, Daniel Cuneo, Christopher P Hess, William P Dillon, Orit A Glenn, Christine M Glastonbury, Nicholas Olney, Jennifer S Yokoyama, Luke W Bonham, Bruce Miller, Aimee Kao, Nicholas Schmansky, Bruce Fischl, Ole A Andreassen, Terry Jernigan, Anders Dale, A James Barkovich, Rahul S Desikan, Leo P Sugru. Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific reports. vol 8. issue 1. 2019-10-29. PMID:30190613. |
regionally specific tsc1 and tsc2 gene expression in tuberous sclerosis complex. |
2019-10-29 |
2023-08-13 |
human |
| Yi Li, Matthew J Barkovich, Celeste M Karch, Ryan M Nillo, Chun-Chieh Fan, Iris J Broce, Chin Hong Tan, Daniel Cuneo, Christopher P Hess, William P Dillon, Orit A Glenn, Christine M Glastonbury, Nicholas Olney, Jennifer S Yokoyama, Luke W Bonham, Bruce Miller, Aimee Kao, Nicholas Schmansky, Bruce Fischl, Ole A Andreassen, Terry Jernigan, Anders Dale, A James Barkovich, Rahul S Desikan, Leo P Sugru. Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Scientific reports. vol 8. issue 1. 2019-10-29. PMID:30190613. |
tuberous sclerosis complex (tsc), a heritable neurodevelopmental disorder, is caused by mutations in the tsc1 or tsc2 genes. |
2019-10-29 |
2023-08-13 |
human |
| Shuqiang Li, Yushi Zhang, Zhiyong Wang, Yanfeng Yang, Wansheng Gao, Dongsheng Li, Jinxing We. Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. Human pathology. vol 82. 2019-10-22. PMID:30036593. |
tsc2 gene mutation was repeatedly reported to be associated with a more severe phenotype in patients with tuberous sclerosis complex (tsc). |
2019-10-22 |
2023-08-13 |
Not clear |
| Qian Shi, Suryavathi Viswanadhapalli, William E Friedrichs, Chakradhar Velagapudi, Cédric Szyndralewiez, Shweta Bansal, Manzoor A Bhat, Goutam Ghosh Choudhury, Hanna E Abbou. Nox4 is a Target for Tuberin Deficiency Syndrome. Scientific reports. vol 8. issue 1. 2019-10-01. PMID:29491408. |
the mechanism by which tsc2 inactivation or deficiency contributes to the pathology of tuberous sclerosis complex (tsc) is not fully clear. |
2019-10-01 |
2023-08-13 |
mouse |
| G Gordo, J Tenorio, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, M Palomares-Bralo, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz-Pérez, V Martinez-Glez, P Lapunzin. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clinical genetics. vol 93. issue 4. 2019-09-30. PMID:28892148. |
mutations in different genes in this pathway result in known rare diseases implicated in hemi/megalencephaly with epilepsy, as the tuberous sclerosis complex caused by mutations in tsc1 and tsc2, or the pik3ca-related overgrowth spectrum (pros). |
2019-09-30 |
2023-08-13 |
Not clear |
| Susana Boronat, Ignasi Barbe. Less common manifestations in TSC. American journal of medical genetics. Part C, Seminars in medical genetics. vol 178. issue 3. 2019-09-27. PMID:30156054. |
tuberous sclerosis complex (tsc) is due to pathogenic variants in tsc1 or tsc2 genes resulting in hyperactivation of the mtor pathway. |
2019-09-27 |
2023-08-13 |
Not clear |
| Angela Peron, Kit Sing Au, Hope Northru. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice. American journal of medical genetics. Part C, Seminars in medical genetics. vol 178. issue 3. 2019-09-27. PMID:30255984. |
tuberous sclerosis complex (tsc) is a multisystem autosomal dominant condition caused by inactivating pathogenic variants in either the tsc1 or the tsc2 gene, leading to hyperactivation of the mtor pathway. |
2019-09-27 |
2023-08-13 |
Not clear |
| F Cammarata-Scalisi, C Vidales Moreno, F Stock, A Avendaño, D Araque, M A Lacruz-Rengel, A Diociaiuti, E Bellacchio, M Calle. Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex. Journal of the European Academy of Dermatology and Venereology : JEADV. vol 32. issue 6. 2019-08-30. PMID:29265517. |
two novel mutations in the tsc2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex. |
2019-08-30 |
2023-08-13 |
Not clear |
| Doreen N Palsgrove, Yunjie Li, Christine A Pratilas, Ming-Tseh Lin, Aparna Pallavajjalla, Christopher Gocke, Angelo M De Marzo, Andres Matoso, George J Netto, Jonathan I Epstein, Pedram Argan. Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum. The American journal of surgical pathology. vol 42. issue 9. 2019-08-28. PMID:29975249. |
esc has been postulated to be analogous to a subtype of rcc consistently identified in tuberous sclerosis complex patients, and while previous work has demonstrated loss of heterozygosity at the tsc1 locus and copy number gains at tsc2 in esc rcc, these genes have not been sequenced in esc rcc. |
2019-08-28 |
2023-08-13 |
Not clear |
| Ines Serra, Chloë Scheldeman, Michael Bazelot, Benjamin J Whalley, Mark L Dallas, Peter A M de Witte, Claire M William. Cannabidiol modulates phosphorylated rpS6 signalling in a zebrafish model of Tuberous Sclerosis Complex. Behavioural brain research. vol 363. 2019-08-26. PMID:30684511. |
tuberous sclerosis complex (tsc) is a rare disease caused by mutations in the tsc1 or tsc2 genes and is characterized by widespread tumour growth, intractable epilepsy, cognitive deficits and autistic behaviour. |
2019-08-26 |
2023-08-13 |
zebrafish |
| Yu-Jing Huang, Zong-Pei Jiang, Yu-Ping Chen, Jin-Quan Wu, Jia-Li Huang, Yan-Qiang Chen, Meng-Jun Lian. Malignancy of renal angiomyolipoma from tuberous sclerosis complex with TSC2 mutation. Chinese medical journal. vol 132. issue 1. 2019-07-22. PMID:30628968. |
malignancy of renal angiomyolipoma from tuberous sclerosis complex with tsc2 mutation. |
2019-07-22 |
2023-08-13 |
Not clear |
| Megan Parilla, Sabah Kadri, Sushant A Patil, Lauren Ritterhouse, Jeremy Segal, Kammi J Henriksen, Tatjana Anti. Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations? The American journal of surgical pathology. vol 42. issue 7. 2019-07-15. PMID:29668487. |
using next-generation sequencing we present 2 cases of sporadic esc rcc in patients without clinical features of tuberous sclerosis, which demonstrate pathogenic somatic tsc2 gene mutations. |
2019-07-15 |
2023-08-13 |
Not clear |
| Megan Parilla, Sabah Kadri, Sushant A Patil, Lauren Ritterhouse, Jeremy Segal, Kammi J Henriksen, Tatjana Anti. Are Sporadic Eosinophilic Solid and Cystic Renal Cell Carcinomas Characterized by Somatic Tuberous Sclerosis Gene Mutations? The American journal of surgical pathology. vol 42. issue 7. 2019-07-15. PMID:29668487. |
these mutations are without other alterations in any other genes associated with rcc, suggesting that sporadic esc rcc may be characterized by somatic tuberous sclerosis gene mutations (tsc2). |
2019-07-15 |
2023-08-13 |
Not clear |