| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| E Steve Roac. Applying the Lessons of Tuberous Sclerosis: The 2015 Hower Award Lecture. Pediatric neurology. vol 63. 2017-12-13. PMID:27543366. |
a mutation of either tsc1 or tsc2 can cause tuberous sclerosis complex. |
2017-12-13 |
2023-08-13 |
Not clear |
| Hongwu Li, Fuquan Jin, Keguo Jiang, Shuang Ji, Li Wang, Zhaofei Ni, Xianguo Chen, Zhongdong Hu, Hongbing Zhang, Yehai Liu, Yide Qin, Xiaojun Zh. mTORC1-mediated downregulation of COX2 restrains tumor growth caused by TSC2 deficiency. Oncotarget. vol 7. issue 19. 2017-12-12. PMID:27078846. |
tuberous sclerosis complex (tsc), caused by loss-of-function mutations in the tsc1 or tsc2 gene, is characterized by benign tumor formation in multiple organs. |
2017-12-12 |
2023-08-13 |
mouse |
| Jia Zou, Bo Zhang, David H Gutmann, Michael Won. Postnatal reduction of tuberous sclerosis complex 1 expression in astrocytes and neurons causes seizures in an age-dependent manner. Epilepsia. vol 58. issue 12. 2017-12-12. PMID:29023667. |
epilepsy is one of the most prominent symptoms of tuberous sclerosis complex (tsc), a genetic disorder, and may be related to developmental defects resulting from impaired tsc1 or tsc2 gene function in astrocytes and neurons. |
2017-12-12 |
2023-08-13 |
mouse |
| Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Alessia Di Nardo, Daria Turner, Tommy L Lewis, Christopher Conrad, Jonathan M Rothberg, Jonathan O Lipton, Stefan Kölker, Georg F Hoffmann, Min-Joon Han, Franck Polleux, Mustafa Sahi. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell reports. vol 17. issue 4. 2017-11-24. PMID:27760312. |
tuberous sclerosis complex (tsc) is a neurodevelopmental disease caused by tsc1 or tsc2 mutations and subsequent activation of the mtorc1 kinase. |
2017-11-24 |
2023-08-13 |
Not clear |
| Su-Kyeong Hwang, Jae-Hyung Lee, Jung-Eun Yang, Chae-Seok Lim, Jin-A Lee, Yong-Seok Lee, Kyungmin Lee, Bong-Kiun Kaan. Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation. Molecular brain. vol 9. issue 1. 2017-11-17. PMID:27216612. |
everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel tsc2 mutation. |
2017-11-17 |
2023-08-13 |
Not clear |
| Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Proll. Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. PloS one. vol 12. issue 10. 2017-10-31. PMID:28968464. |
molecular analysis of tsc1 and tsc2 genes and phenotypic correlations in brazilian families with tuberous sclerosis. |
2017-10-31 |
2023-08-13 |
Not clear |
| Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Rudinei Luis Correia, Fernanda Veiga de Goes, Raquel Tavares Boy da Silva, Larissa Souza Mario Bueno, Mireille Caroline Silva de Miranda Gomes, Henrique de Campos Reis Galvão, João I C F Neri, Maria Isabel Achatz, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Proll. Molecular analysis of TSC1 and TSC2 genes and phenotypic correlations in Brazilian families with tuberous sclerosis. PloS one. vol 12. issue 10. 2017-10-31. PMID:28968464. |
in brazil, there is no data regarding incidence and prevalence of tuberous sclerosis and mutations in tsc1 and tsc2. |
2017-10-31 |
2023-08-13 |
Not clear |
| Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevsk. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. American journal of medical genetics. Part A. vol 173. issue 3. 2017-10-19. PMID:28127866. |
rare familial tsc2 gene mutation associated with atypical phenotype presentation of tuberous sclerosis complex. |
2017-10-19 |
2023-08-13 |
Not clear |
| Jonah Fox, Shay Ben-Shachar, Shimrit Uliel, Ran Svirsky, Hirotomo Saitsu, Naomichi Matsumoto, Aviva Fattal-Valevsk. Rare familial TSC2 gene mutation associated with atypical phenotype presentation of Tuberous Sclerosis Complex. American journal of medical genetics. Part A. vol 173. issue 3. 2017-10-19. PMID:28127866. |
tuberous sclerosis complex (tsc) is a neurocutaneous disorder that results from mutations within either the tsc1 gene or the tsc2 gene. |
2017-10-19 |
2023-08-13 |
Not clear |
| Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northru. TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex. American journal of medical genetics. Part A. vol 173. issue 3. 2017-10-19. PMID:28211972. |
tsc2 c.1864c>t variant associated with mild cases of tuberous sclerosis complex. |
2017-10-19 |
2023-08-13 |
Not clear |
| Barbara Kathage, Sebastian Gehlert, Anna Ulbricht, Laura Lüdecke, Victor E Tapia, Zacharias Orfanos, Daniela Wenzel, Wilhelm Bloch, Rudolf Volkmer, Bernd K Fleischmann, Dieter O Fürst, Jörg Höhfel. The cochaperone BAG3 coordinates protein synthesis and autophagy under mechanical strain through spatial regulation of mTORC1. Biochimica et biophysica acta. Molecular cell research. vol 1864. issue 1. 2017-10-04. PMID:27756573. |
the cochaperone utilizes its ww domain to contact a proline-rich motif in the tuberous sclerosis protein tsc1 that functions as an mtorc1 inhibitor in association with tsc2. |
2017-10-04 |
2023-08-13 |
human |
| Gregory Fettweis, Emmanuel Di Valentin, Laurent L'homme, Cédric Lassence, Franck Dequiedt, Marianne Fillet, Isabelle Coupienne, Jacques Piett. RIP3 antagonizes a TSC2-mediated pro-survival pathway in glioblastoma cell death. Biochimica et biophysica acta. Molecular cell research. vol 1864. issue 1. 2017-10-04. PMID:27984090. |
in the present study, we describe a new tsc2 (tuberous sclerosis 2)-dependent survival pathway implicating mk2 (mapkapk2) kinase and 14-3-3 proteins which conducts to the activation of a pro-survival autophagy. |
2017-10-04 |
2023-08-13 |
human |
| Stephanie Carapetian Randl. Tuberous Sclerosis Complex: A Review. Pediatric annals. vol 46. issue 4. 2017-10-03. PMID:28414398. |
tuberous sclerosis complex is a genetic disorder caused by a mutation in either the tsc1 or tsc2 gene leading to dysfunction of hamartin or tuberin, respectively. |
2017-10-03 |
2023-08-13 |
Not clear |
| Susana Boronat, Elizabeth Anne Thiele, Paul Carus. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Developmental medicine and child neurology. vol 59. issue 10. 2017-09-29. PMID:28786492. |
cerebellar lesions are associated with tsc2 mutations in tuberous sclerosis complex: a retrospective record review study. |
2017-09-29 |
2023-08-13 |
Not clear |
| Vineet Tyagi, Eran Bornstein, Robert Schacht, Shailee Lala, Sarah Mill. Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. Pediatrics and neonatology. vol 57. issue 5. 2017-09-27. PMID:24495558. |
tuberous sclerosis (ts) is an autosomal dominant condition associated with mutations in the tsc1 and/or tsc2 genes. |
2017-09-27 |
2023-08-12 |
Not clear |
| Carla Rubilar, Francisca López, Mónica Troncoso, Andrés Barrios, Luisa Herrer. [Clinical and genetic study patients with tuberous sclerosis complex]. Revista chilena de pediatria. vol 88. issue 1. 2017-09-26. PMID:28288225. |
tuberous sclerosis complex (tsc) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes tsc1 or tsc2. |
2017-09-26 |
2023-08-13 |
Not clear |
| Li Wang, Zhaofei Ni, Yujie Liu, Shuang Ji, Fuquan Jin, Keguo Jiang, Junfang Ma, Cuiping Ren, Hongbing Zhang, Zhongdong Hu, Xiaojun Zh. Hyperactivated mTORC1 downregulation of FOXO3a/PDGFRα/AKT cascade restrains tuberous sclerosis complex-associated tumor development. Oncotarget. vol 8. issue 33. 2017-09-25. PMID:28903387. |
hyperactivation of mammalian target of rapamycin complex 1 (mtorc1), caused by loss-of-function mutations in either the tsc1 or tsc2 gene, leads to the development of tuberous sclerosis complex (tsc), a benign tumor syndrome with multiple affected organs. |
2017-09-25 |
2023-08-13 |
mouse |
| Linli Liu, Zhengzhong Zhang, Yunzhu Mu, Fen Xiong, Hao Yang, Ping Yang, Yiping Liu, Xing Chen, Weichi Su. [Analysis of TSC gene mutations in five patients with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. vol 34. issue 2. 2017-09-14. PMID:28397210. |
to identify pathogenic mutations of tsc1 and tsc2 genes in two familial and one sporadic cases with tuberous sclerosis complex (tsc). |
2017-09-14 |
2023-08-13 |
Not clear |
| Hilaire C Lam, Christian V Baglini, Alicia Llorente Lope, Andrey A Parkhitko, Heng-Jia Liu, Nicola Alesi, Izabela A Malinowska, Darius Ebrahimi-Fakhari, Afshin Saffari, Jane J Yu, Ana Pereira, Damir Khabibullin, Barbara Ogorek, Julie Nijmeh, Taylor Kavanagh, Adam Handen, Stephen Y Chan, John M Asara, William M Oldham, Maria T Diaz-Meco, Jorge Moscat, Mustafa Sahin, Carmen Priolo, Elizabeth P Hensk. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer research. vol 77. issue 12. 2017-09-14. PMID:28512249. |
p62/sequestosome-1 (sqstm1) is a multifunctional adaptor protein and autophagic substrate that accumulates in cells with hyperactive mtorc1, such as kidney cells with mutations in the tumor suppressor genes tuberous sclerosis complex (tsc)1 or tsc2. |
2017-09-14 |
2023-08-13 |
Not clear |
| Roy Pascal Naja, Seema Dhanjal, Alpesh Doshi, Paul Serhal, Joy Delhanty, Sioban B SenGupt. The impact of mosaicism in preimplantation genetic diagnosis (PGD): approaches to PGD for dominant disorders in couples without family history. Prenatal diagnosis. vol 36. issue 9. 2017-09-12. PMID:27441947. |
we present our experience for two female patients with different dominantly inherited autosomal disorders; neurofibromatosis type 1 (nf1) and tuberous sclerosis complex type 2 (tsc2). |
2017-09-12 |
2023-08-13 |
Not clear |