All Relations between tsc1 and tsc2

Publication Sentence Publish Date Extraction Date Species
D Mammadova, J Vecko, M Hofmann, S C Sch\\xc3\\xbcssler, L Deiters, A Canda, A K Wieland, S Gollwitzer, H Hamer, Regina Trollman. A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex. Orphanet journal of rare diseases. vol 18. issue 1. 2023-11-10. PMID:37946245. tuberous sclerosis complex (tsc) is a rare multisystem disorder caused by mutations in the tsc1 or tsc2 gene. 2023-11-10 2023-11-20 Not clear
Inci S Aksoylu, Pauline Martin, Francis Robert, Krzysztof J Szkop, Nicholas E Redmond, Srirupa Bhattacharyya, Jennifer Wang, Shan Chen, Roberta L Beauchamp, Irene Nobeli, Jerry Pelletier, Ola Larsson, Vijaya Rames. Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations. Molecular autism. vol 14. issue 1. 2023-10-26. PMID:37880800. tuberous sclerosis complex (tsc) is an inherited neurocutaneous disorder caused by mutations in the tsc1 or tsc2 genes, with patients often exhibiting neurodevelopmental (nd) manifestations termed tsc-associated neuropsychiatric disorders (tand) including autism spectrum disorder (asd) and intellectual disability. 2023-10-26 2023-11-08 Not clear
Paolo Curatolo, Mirte Scheper, Leonardo Emberti Gialloreti, Nicola Specchio, Eleonora Aronic. Is tuberous sclerosis complex-associated autism a preventable and treatable disorder? World journal of pediatrics : WJP. 2023-10-25. PMID:37878130. tuberous sclerosis complex (tsc) is a genetic disorder caused by inactivating mutations in the tsc1 and tsc2 genes, causing overactivation of the mechanistic (previously referred to as mammalian) target of rapamycin (mtor) signaling pathway in fetal life. 2023-10-25 2023-11-08 Not clear
Ashwini Sri Hari, Rajeswari Banerji, Li-Ping Liang, Ruth E Fulton, Christopher Quoc Huynh, Timothy Fabisiak, Pallavi Bhuyan McElroy, James R Roede, Manisha Pate. Increasing glutathione levels by a novel posttranslational mechanism inhibits neuronal hyperexcitability. Redox biology. vol 67. 2023-10-01. PMID:37769522. furthermore, bso-mediated gsh depletion oxidatively modified the tuberous sclerosis protein complex (tsc) consisting of hamartin (tsc1), tuberin (tsc2), and tbc1 domain family member 7 (tbc1d7) which are critical negative regulators of mtorc1. 2023-10-01 2023-10-07 zebrafish
Gurneel K Dhanesar, Harish Rengarajan, Baidarbhi Chakrabort. Malignant Perivascular Epithelioid Cell Tumor of the Uterus. Cureus. vol 15. issue 7. 2023-08-14. PMID:37575749. they belong to the family of mesenchymal tumors and include angiomyolipomas, clear cell sugar tumors of the lung, and pecomas not otherwise specified (nos).\xc2\xa0tuberous sclerosis complex 1 (tsc1) and tuberous sclerosis complex 2 (tsc2) gene mutation is associated with pecoma, which causes hyperactivation of the mammalian target of rapamycin (mtor) signaling pathway. 2023-08-14 2023-08-16 Not clear
Sameer C Dhamne, Meera E Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M McTighe, Sarika Gurnani, Sheryl Anne D Vermudez, Daniel Curtis, Christopher J Wilson, Mustafa Q Hameed, Angelica D'Amore, Alexander Rotenberg, Mustafa Sahi. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. Annals of clinical and translational neurology. 2023-08-07. PMID:37545094. tuberous sclerosis complex (tsc) is a neurodevelopmental disorder caused by autosomal-dominant pathogenic variants in either the tsc1 or tsc2 gene, and it is characterized by hamartomas in multiple organs, such as skin, kidney, lung, and brain. 2023-08-07 2023-08-14 mouse
Marjan Taherian, Paria Bayati, Mohammad-Ali Assarehzadegan, Mansoureh Soleimani, Hadi Poormoghim, Nazanin Mojtabav. Insights into Overlappings of Fibrosis and Cancer: Exploring the Tumor-related Cardinal Genes in Idiopathic Pulmonary Fibrosis. Iranian journal of allergy, asthma, and immunology. vol 22. issue 2. 2023-07-27. PMID:37496412. gene expression analyses indicated a significant elevation of regulatory associated protein of mtor (raptor), ras homolog enriched in brain (rheb), s6 kinase 1, and eukaryotic translation initiation factor 4e-binding protein 1 (4ebp1), as well as a significant reduction of vegfa, tuberous sclerosis complex (tsc2), and lrp1; no changes were observed in the tsc1 mrna level. 2023-07-27 2023-08-14 mouse
Erin Gibbons, Briaunna M N Minor, Stephen R Hamme. Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet. Endocrine-related cancer. 2023-07-06. PMID:37410387. lymphangioleiomyomatosis (lam) is a cystic lung disease found almost exclusively in genetic females and caused by small clusters of smooth muscle cell tumors containing mutations in one of the two tuberous sclerosis genes (tsc1 or tsc2). 2023-07-06 2023-08-14 Not clear
Pooja Navale, Deyali Chatterjee, Malak Itani, Nikolaos A Trikalino. Tuberous sclerosis complex mutations in patients with pancreatic neuroendocrine tumors. Observations on phenotypic and treatment-related associations. Virchows Archiv : an international journal of pathology. 2023-06-24. PMID:37354253. pancreatic neuroendocrine tumors (pannets) in familial tuberous sclerosis (tsc1 and tsc2 mutations) have been known and studied. 2023-06-24 2023-08-14 Not clear
Rebecca A Reynolds, Diane J Aum, Ignacio Gonzalez-Gomez, Michael Wong, Kaleigh Roberts, Sonika Dahiya, Luis F Rodriguez, Jarod L Roland, Matthew D Smyt. Subependymal giant-cell astrocytomas in the absence of tuberous sclerosis. Journal of neurosurgery. Pediatrics. 2023-06-17. PMID:37327147. tuberous sclerosis is a rare genetic condition caused by tsc1 or tsc2 mutations that can be inherited, sporadic, or the result of somatic mosaicism. 2023-06-17 2023-08-14 Not clear
Kleanthi Chalkiadaki, Elpida Statoulla, Maria Zafeiri, Nabila Haji, Jean-Claude Lacaille, Craig M Powell, Seyed Mehdi Jafarnejad, Arkady Khoutorsky, Christos G Gkogka. Reversal of memory and autism-related phenotypes in Frontiers in cell and developmental biology. vol 11. 2023-06-09. PMID:37293130. reversal of memory and autism-related phenotypes in tuberous sclerosis complex (tsc) is a rare monogenic disorder co-diagnosed with high rates of autism and is caused by loss of function mutations in the tsc1 or tsc2 genes. 2023-06-09 2023-08-14 mouse
Hiroki Ura, Sumihito Togi, Mamoru Ozaki, Hisayo Hatanaka, Yo Niid. Establishment of human induced pluripotent stem cell lines, KMUGMCi006, from a patient with Tuberous sclerosis complex (TSC) bearing mosaic nonsense mutations in the Tuberous sclerosis complex 2 (TSC2) gene. Stem cell research. vol 70. 2023-06-04. PMID:37271041. tuberous sclerosis complex (tsc) is an autosomal dominant disorder characterized by neuropsychiatric symptoms and multiple dysplastic organ lesions, caused by loss of function mutations in either tsc1 or tsc2. 2023-06-04 2023-08-14 human
Elisabetta Chiaradia, Ingrid Miller, Giovanni Renzone, Alessia Tognoloni, Alice Polchi, Federico De Marco, Brunella Tancini, Andrea Scaloni, Alessandro Magin. Proteomic analysis of murine Tsc1-deficient neural stem progenitor cells. Journal of proteomics. 2023-05-19. PMID:37207814. significance: tuberous sclerosis complex (tsc) is a multisystemic disorder caused by inactivating mutations of tsc1 or tsc2 genes, which induce overactivation of the mtor component. 2023-05-19 2023-08-14 Not clear
Katarzyna Klonowska, Krinio Giannikou, Joannes M Grevelink, Barbara Boeszoermenyi, Aaron R Thorner, Zachary T Herbert, Antara Afrin, Alison M Treichel, Lana Hamieh, Katarzyna Kotulska, Sergiusz Jozwiak, Joel Moss, Thomas N Darling, David J Kwiatkowsk. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex. American journal of human genetics. 2023-05-04. PMID:37141891. tuberous sclerosis complex (tsc) is a neurogenetic disorder due to loss-of-function tsc1 or tsc2 variants, characterized by tumors affecting multiple organs, including skin, brain, heart, lung, and kidney. 2023-05-04 2023-08-14 Not clear
Fateme Tehrani, Nahideh Khosroshahi, Zarrin Keihani Doust, Soheila Dabiran, Mohammad Reza Zarkes. The Efficacy and Safety of Rapamycin in Children with Tuberous Sclerosis: A Cross-sectional Study. Iranian journal of child neurology. vol 17. issue 2. 2023-04-24. PMID:37091468. mutations in tsc1 or tsc2 genes have been proposed as the main causative factors responsible for developing tuberous sclerosis complex (tsc). 2023-04-24 2023-08-14 Not clear
Eduardo F\\xc3\\xa9lix Martins Santana, Ana Maria Faria Esteves, Daniella Guerra Delorenzo, Celso Hygino, Heron Werner, Edward Araujo J\\xc3\\xbanio. Tuberous Sclerosis Complex: Prenatal Diagnosis Using Ultrasound and Magnetic Resonance Imaging-A Report of Two Cases. The Indian journal of radiology & imaging. vol 33. issue 1. 2023-03-01. PMID:36855718. tuberous sclerosis complex (tsc) is a multiple system neurocutaneous syndrome with a genetic disorder caused by different mutations in tsc1 or tsc2. 2023-03-01 2023-08-14 Not clear
Chao Gao, Bernadeta Zabielska, Fuyong Jiao, Daoqi Mei, Xiaona Wang, Katarzyna Kotulska, Sergiusz Jozwia. Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management. Journal of clinical medicine. vol 12. issue 3. 2023-02-11. PMID:36769603. introduction, tuberous sclerosis complex (tsc) is an autosomal-dominant disorder caused by mutations inactivating tsc1 or tsc2 genes and characterized by the presence of tumors involving many organs, including the brain, heart, kidneys, and skin. 2023-02-11 2023-08-14 Not clear
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Iked. Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics. vol 17. issue 1. 2023-02-03. PMID:36732866. tsc2 mutation rather than tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. 2023-02-03 2023-08-14 mouse
Hirofumi Kashii, Shinya Kasai, Atsushi Sato, Yoko Hagino, Yasumasa Nishito, Toshiyuki Kobayashi, Okio Hino, Masashi Mizuguchi, Kazutaka Iked. Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Human genomics. vol 17. issue 1. 2023-02-03. PMID:36732866. tuberous sclerosis complex is caused by pathogenic germline mutations of either the tsc1 or tsc2 gene, but somatic mutations were identified in both genes, and the combined effects of tsc1 and tsc2 mutations have been unknown. 2023-02-03 2023-08-14 mouse
Iya Ghassib, Honghao Zhang, Shuqun Qi, Rawan Moshen, Yuji Mishina, Teresita Bellido, Fei Li. Off-target activity of the 8\\xc2\\xa0kb Dmp1-Cre results in the deletion of\\xc2\\xa0Tsc1\\xc2\\xa0gene in mouse intestinal mesenchyme. Transgenic research. 2022-12-22. PMID:36547785. histological examination shows the presence of colon polyps in tsc1-deficient mice in association with significantly larger colon and narrower lumen, which recapitulates the common polyps pathology in tuberous sclerosis, an autosomal dominant disorder caused by mutations in either tsc1 or tsc2. 2022-12-22 2023-08-14 mouse