All Relations between Tuberous Sclerosis and tsc2

Publication Sentence Publish Date Extraction Date Species
Dan Ehninge. Tsc2 Haploinsufficiency Has Limited Effects on Fetal Brain Cytokine Levels during Gestational Immune Activation. Autism research and treatment. vol 2014. 2014-08-12. PMID:25114803. dysregulated tsc/mtor signaling may play a pathogenetic role in forms of syndromic autism, such as autism associated with tuberous sclerosis, a genetic disorder caused by heterozygous tsc1 or tsc2 mutations. 2014-08-12 2023-08-13 mouse
A Lin, J Yao, L Zhuang, D Wang, J Han, E W-F Lam, B Ga. The FoxO-BNIP3 axis exerts a unique regulation of mTORC1 and cell survival under energy stress. Oncogene. vol 33. issue 24. 2014-08-07. PMID:23851496. inactivation of critical regulators involved in energy stress response, including adenosine monophosphate-activated protein kinase (ampk), liver kinase b1 (lkb1), tuberous sclerosis complex 1 (tsc1) and tuberous sclerosis complex 2 (tsc2), leads to uncontrolled cell growth yet increased apoptosis under energy stress. 2014-08-07 2023-08-12 human
Shalmali Avinash Pradhan, Mohammad Iqbal Rather, Ankana Tiwari, Vishwanath Kumble Bhat, Arun Kuma. Evidence that TSC2 acts as a transcription factor and binds to and represses the promoter of Epiregulin. Nucleic acids research. vol 42. issue 10. 2014-08-04. PMID:24748662. the tsc2 gene, mutated in patients with tuberous sclerosis complex (tsc), encodes a 200 kda protein tsc2 (tuberin). 2014-08-04 2023-08-13 Not clear
Emily K Gabitzsch, Syed S Hashmi, Mary Kay Koenig, Marianna H Raia, Vicky H Whittemore, Hope Northrup, Shahla Nader, Michael J Gambell. Self-reported reproductive health in women with tuberous sclerosis complex. Genetics in medicine : official journal of the American College of Medical Genetics. vol 15. issue 12. 2014-07-14. PMID:23660529. inactivating mutations in the tsc1 and tsc2 genes cause tuberous sclerosis complex, and recent evidence points to a crucial role for these genes in maintaining appropriate ovarian function. 2014-07-14 2023-08-12 Not clear
José-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, Jean Claude Décarie, Sylvia Dobrzeniecka, Lysanne Patry, Marc-Antoine Nadon, Bettina E Mucha, Philippe Major, Michael Shevell, Bouchra Ouled Amar Bencheikh, Ridha Joober, Mark E Samuels, Guy A Rouleau, Philippe P Roux, Jacques L Michau. Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. Journal of medical genetics. vol 50. issue 11. 2014-07-14. PMID:23687350. mutations in tsc1 or tsc2 cause the tuberous sclerosis complex (tsc), a disorder characterised by the development of hamartomas or benign tumours in various organs as well as the variable presence of epilepsy, intellectual disability (id) and autism. 2014-07-14 2023-08-12 Not clear
Andreas Buch Møller, Mikkel Holm Vendelbo, Stine Klejs Rahbek, Berthil Forrest Clasen, Peter Schjerling, Kristian Vissing, Niels Jesse. Resistance exercise, but not endurance exercise, induces IKKβ phosphorylation in human skeletal muscle of training-accustomed individuals. Pflugers Archiv : European journal of physiology. vol 465. issue 12. 2014-07-08. PMID:23838844. activation of ikkβ and the mitogen-activated protein kinases (mapks) erk1/2 and p38 has been suggested to link inflammation and cellular stress to activation of mtorc1 through the tuberous sclerosis 1 (tsc1)/tuberous sclerosis 2 (tsc2) complex. 2014-07-08 2023-08-12 human
Gert Wiegand, Theodor W May, Philipp Ostertag, Rainer Boor, Ulrich Stephani, David Neal Fran. Everolimus in tuberous sclerosis patients with intractable epilepsy: a treatment option? European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 17. issue 6. 2014-07-03. PMID:23845174. tuberous sclerosis complex (tsc) is an often severe neurodevelopmental disorder caused by overactivation of the mtor pathway due to mutations in either the tsc1 or tsc2 genes. 2014-07-03 2023-08-12 Not clear
Candi L Lasarge, Steve C Danze. Mechanisms regulating neuronal excitability and seizure development following mTOR pathway hyperactivation. Frontiers in molecular neuroscience. vol 7. 2014-06-24. PMID:24672426. indeed, several causal mutations have been identified in patients with epilepsy, the most prominent of these being mutations in pten and tuberous sclerosis complexes 1 and 2 (tsc1, tsc2). 2014-06-24 2023-08-12 mouse
Nur Farrah Dila Ismail, Nik Mohd Ariff Nik Abdul Malik, Jafar Mohseni, Abdulqawee Mahyoob Rani, Fatemeh Hayati, Abdul Razak Salmi, Mohd Yusof Narazah, Z A M H Zabidi-Hussin, Abdul Rashid Silawati, Wee Teik Keng, Lock Hock Ngu, Teguh Haryo Sasongk. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome. Japanese journal of clinical oncology. vol 44. issue 5. 2014-06-15. PMID:24683199. two novel gross deletions of tsc2 in malaysian patients with tuberous sclerosis complex and tsc2/pkd1 contiguous deletion syndrome. 2014-06-15 2023-08-12 Not clear
Nur Farrah Dila Ismail, Nik Mohd Ariff Nik Abdul Malik, Jafar Mohseni, Abdulqawee Mahyoob Rani, Fatemeh Hayati, Abdul Razak Salmi, Mohd Yusof Narazah, Z A M H Zabidi-Hussin, Abdul Rashid Silawati, Wee Teik Keng, Lock Hock Ngu, Teguh Haryo Sasongk. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome. Japanese journal of clinical oncology. vol 44. issue 5. 2014-06-15. PMID:24683199. tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, tsc1 or tsc2, encoding for hamartin and tuberin, respectively. 2014-06-15 2023-08-12 Not clear
Nur Farrah Dila Ismail, Nik Mohd Ariff Nik Abdul Malik, Jafar Mohseni, Abdulqawee Mahyoob Rani, Fatemeh Hayati, Abdul Razak Salmi, Mohd Yusof Narazah, Z A M H Zabidi-Hussin, Abdul Rashid Silawati, Wee Teik Keng, Lock Hock Ngu, Teguh Haryo Sasongk. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome. Japanese journal of clinical oncology. vol 44. issue 5. 2014-06-15. PMID:24683199. we report here two novel gross deletions of tsc2 gene in malay patients with tuberous sclerosis complex and tsc2/pkd1 contiguous gene deletion syndrome, respectively. 2014-06-15 2023-08-12 Not clear
Roberta Bombardieri, Romina Moavero, Denis Roberto, Caterina Cerminara, Paolo Curatol. Pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (TSC2) mutation. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists. vol 19. issue 5. 2014-06-12. PMID:23757617. pancreatic neuroendocrine tumor in a child with a tuberous sclerosis complex 2 (tsc2) mutation. 2014-06-12 2023-08-12 Not clear
Ryan C Riddle, Julie L Frey, Ryan E Tomlinson, Mathieu Ferron, Yuanyuan Li, Douglas J DiGirolamo, Marie-Claude Faugere, Mehboob A Hussain, Gerard Karsenty, Thomas L Clemen. Tsc2 is a molecular checkpoint controlling osteoblast development and glucose homeostasis. Molecular and cellular biology. vol 34. issue 10. 2014-06-12. PMID:24591652. to identify the signaling pathways in osteoblasts that mediate insulin's effects on bone and energy metabolism, we examined the function of the tuberous sclerosis 2 (tsc2) protein, a key target important in coordinating nutrient signaling. 2014-06-12 2023-08-12 mouse
Ji-Young Ha, Ji-Soo Kim, Young-Hee Kang, Eugene Bok, Yoon-Seong Kim, Jin H So. Tnfaip8 l1/Oxi-β binds to FBXW5, increasing autophagy through activation of TSC2 in a Parkinson's disease model. Journal of neurochemistry. vol 129. issue 3. 2014-06-04. PMID:24444419. here, we demonstrate that the os-induced tnfaip8 l1/oxi-β could increase autophagy by a unique mechanism that increases the stability of tuberous sclerosis complex 2 (tsc2), a critical negative regulator of mtor. 2014-06-04 2023-08-12 Not clear
G G Guenther, G Liu, M U Ramirez, R J McMonigle, S M Kim, A N McCracken, Y Joo, I Ushach, N L Nguyen, A L Edinge. Loss of TSC2 confers resistance to ceramide and nutrient deprivation. Oncogene. vol 33. issue 14. 2014-05-27. PMID:23604129. activating mtorc1 by deleting its negative regulator tuberous sclerosis complex 2 (tsc2) leads to hypersensitivity to glucose deprivation. 2014-05-27 2023-08-12 Not clear
Ling Gao, Michael M Yue, Jennifer Davis, Elisabeth Hyjek, Lucia Schuge. In pulmonary lymphangioleiomyomatosis expression of progesterone receptor is frequently higher than that of estrogen receptor. Virchows Archiv : an international journal of pathology. vol 464. issue 4. 2014-05-19. PMID:24570392. lam occurs sporadically or in patients with tuberous sclerosis complex (tsc) and is etiologically linked to mutations in the tsc1 and tsc2 genes. 2014-05-19 2023-08-12 Not clear
S Llamas Velasco, A Camacho Salas, C Vidales Moreno, R M Ceballos Rodríguez, F J Murcia García, R Simón de la Hera. [TSC2/PKD1 contiguous gene deletion syndrome]. Anales de pediatria (Barcelona, Spain : 2003). vol 79. issue 1. 2014-05-05. PMID:23402778. the tsc2 gene responsible for tuberous sclerosis, is located in chromosome 16p 13.3, adjacent to the gene for autosomal dominant polycystic kidney disease. 2014-05-05 2023-08-12 Not clear
Laura Magri, Manuela Cominelli, Marco Cambiaghi, Marco Cursi, Letizia Leocani, Fabio Minicucci, Pietro Luigi Poliani, Rossella Gall. Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models. Disease models & mechanisms. vol 6. issue 5. 2014-04-22. PMID:23744272. tuberous sclerosis complex (tsc) is a dominantly inherited disease with high penetrance and morbidity, and is caused by mutations in either of two genes, tsc1 or tsc2. 2014-04-22 2023-08-12 mouse
Esther Lopez-Rivera, Padmini Jayaraman, Falguni Parikh, Michael A Davies, Suhendan Ekmekcioglu, Sudeh Izadmehr, Denái R Milton, Jerry E Chipuk, Elizabeth A Grimm, Yeriel Estrada, Julio Aguirre-Ghiso, Andrew G Sikor. Inducible nitric oxide synthase drives mTOR pathway activation and proliferation of human melanoma by reversible nitrosylation of TSC2. Cancer research. vol 74. issue 4. 2014-04-22. PMID:24398473. inos expression and no were associated with reversible nitrosylation of tuberous sclerosis complex (tsc) 2, and inhibited dimerization of tsc2 with its inhibitory partner tsc1, enhancing gtpase activity of its target ras homolog enriched in brain (rheb), a critical activator of mtor signaling. 2014-04-22 2023-08-12 human
Min Qi, Haiyan Zhou, Simiao Fan, Zhao Li, Guodong Yao, Shin-Ichi Tashiro, Satoshi Onodera, Mingyu Xia, Takashi Ikejim. mTOR inactivation by ROS-JNK-p53 pathway plays an essential role in psedolaric acid B induced autophagy-dependent senescence in murine fibrosarcoma L929 cells. European journal of pharmacology. vol 715. issue 1-3. 2014-04-14. PMID:23810968. tuberous sclerosis proteins1 and 2, also known as tsc1 and tsc2, form a protein-complex. 2014-04-14 2023-08-12 Not clear