| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Qingqing You, Jingwei Liu, Ran Zhang, Zhi Wang, Bingying Zhang, Wencong Guo, Ning Xu, Irene Bottillo, Leping Sha. Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex. Human mutation. vol 2025. 2025-04-14. PMID:40226305. |
splicing analysis of exonic tsc1 and tsc2 gene variants causing tuberous sclerosis complex. |
2025-04-14 |
2025-04-16 |
human |
| Thomas C Bolig, Anjana V Yeldandi, Jane E Dematte, Anthony J Esposit. A Gain-of-Function Mutation in Mechanistic Target of Rapamycin Results in a Tuberous Sclerosis Complex-Like Manifestation of Parenchymal Lung Disease. Chest. vol 167. issue 4. 2025-04-10. PMID:40210315. |
although lam can occur sporadically, to our knowledge, mmph has not previously been described independent of tuberous sclerosis complex (tsc), a syndrome caused by germline mutations in the tumor suppressor genes tsc1 or tsc2. |
2025-04-10 |
2025-04-14 |
human |
| Bogdan D Agavriloaei, Radu C Costache, Ramona G Babici, Stela Racoviță, Gianina Dodi, Adrian C Covic, Irina L Mititiu. The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report. BMC nephrology. vol 26. issue 1. 2025-04-02. PMID:40170159. |
autosomal dominant polycystic kidney disease (adpkd, omim # 601313, # 173900) and tuberous sclerosis complex (tsc2, omim # 191092, #613254) are inherited multisystemic diseases that rarely associate. |
2025-04-02 |
2025-04-04 |
Not clear |
| Josef Finstere. Tuberous Sclerosis Due to Deletion of Exons 4-8 in TSC2 Gene, Favourably Responding to Phenytoin and Everolimus: A Case Report. Cureus. vol 17. issue 2. 2025-03-31. PMID:40161113. |
tuberous sclerosis due to deletion of exons 4-8 in tsc2 gene, favourably responding to phenytoin and everolimus: a case report. |
2025-03-31 |
2025-04-03 |
Not clear |
| Soo Yeon Ki. Insights into Tuberous Sclerosis Complex : From Genes to Clinics. Journal of Korean Neurosurgical Society. 2025-03-16. PMID:40090343. |
tuberous sclerosis complex (tsc) is an autosomal dominant genetic disorder caused by pathogenic variants of tsc1 or tsc2 genes, leading to dysregulation of the mammalian target of rapamycin (mtor) pathway. |
2025-03-16 |
2025-03-19 |
Not clear |
| Callum Richard Thomas Kidson, Ne-Ron Loh, Yasir Ahmed Sye. Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016-2022. Journal of intellectual disability research : JIDR. 2025-03-11. PMID:40065422. |
tuberous sclerosis complex (tsc) is a genetic condition caused by mutations in either tsc1 or tsc2 genes, affecting around two million people globally. |
2025-03-11 |
2025-03-13 |
Not clear |
| Jianwei Cao, Chuwen Zeng, Longhui Shao, Meiling Liu, Ze'e Wu, Xiaowen Zhang, Mingxing Liu, Runyu Zhong, Kaijun Zheng, Jialong Che. A novel TSC2 variant cosegregating with TSC in the family: A case report. Medicine. vol 104. issue 9. 2025-02-28. PMID:40020127. |
tuberous sclerosis complex is a multisystem genetic disorder caused by variant of tsc1 or tsc2, which were defined as an independent diagnostic criterion for tsc. |
2025-02-28 |
2025-03-03 |
Not clear |
| Andrew Dhawan, Harshita Kumar, Honglian Huang, Ajay Gupt. Phenotypic clustering in tuberous sclerosis complex reveals four distinct disease trajectories. Brain : a journal of neurology. 2025-02-21. PMID:39982781. |
tuberous sclerosis complex (tsc) is a phenotypically heterogeneous autosomal dominant epilepsy, neuropsychiatric, and tumoral predisposition disease, occurring due to germline variants in the tsc1 or tsc2 genes. |
2025-02-21 |
2025-02-23 |
Not clear |
| Victor Rodrigues Santos, Lilian G Jerow, Candi L LaSarg. Behavioral analyses in rodent models of tuberous sclerosis complex. Epilepsy & behavior : E&B. vol 165. 2025-02-20. PMID:39978075. |
tsc is caused by mutations in the tuberous sclerosis complex genes 1 or 2 (tsc1, tsc2). |
2025-02-20 |
2025-02-23 |
Not clear |
| Yefeng Shen, Xiaofeng Dong, Xujia Li, Zhiyuan Shi, Tingting Shao, Junlan Jiang, Jian Son. WNT inhibitor SP5-mediated SERPING1 suppresses lung adenocarcinoma progression via TSC2/mTOR pathway. Cell death & disease. vol 16. issue 1. 2025-02-18. PMID:39962118. |
through meticulous in vivo and in vitro analyses, we unraveled that serping1 impeded the proliferation, migration, invasion and wound healing of luad cells via the tuberous sclerosis 2 (tsc2)/mammalian target of rapamycin (mtor) pathway. |
2025-02-18 |
2025-02-23 |
Not clear |
| Rijad Konjhodzic, Lana Salihefendic, Naida Mulahuseinovic, Ivana Ceko, Selma Durgut, Nejira Handzic, Sadzida Orucevic, Sajra Uzicani. Novel Intronic Heterozygous Mutation in TSC2 Gene in Pediatric Patient with Tuberous Sclerosis Complex. Acta informatica medica : AIM : journal of the Society for Medical Informatics of Bosnia & Herzegovina : casopis Drustva za medicinsku informatiku BiH. vol 32. issue 2. 2025-02-17. PMID:39959682. |
novel intronic heterozygous mutation in tsc2 gene in pediatric patient with tuberous sclerosis complex. |
2025-02-17 |
2025-02-23 |
Not clear |
| Berith F Pape, Shraddha Parate, Leif A Eriksson, Vibhu Jh. Unraveling the Binding Mode of TSC2-Rheb through Protein Docking and Simulations. Biochemistry. 2025-02-13. PMID:39947931. |
during mm progression, stress responses to hypoxia and pis suppress mammalian target of rapamycin complex 1 (mtorc1) activity by releasing tuberous sclerosis complex 2 (tsc2), which deactivates ras homologue enriched in brain (rheb), a crucial regulator of mtorc1. |
2025-02-13 |
2025-02-16 |
Not clear |
| Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue L. Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate. Stem cell research & therapy. vol 16. issue 1. 2025-02-04. PMID:39901197. |
tuberous sclerosis complex is a genetic disorder caused by mutations in the tsc1 or tsc2 genes, affecting multiple systems. |
2025-02-04 |
2025-02-06 |
Not clear |
| Shuang Wang, Ruishuang Ma, Chong Gao, Yu-Nong Tian, Rong-Gui Hu, Han Zhang, Lan Li, Yue L. Unraveling the function of TSC1-TSC2 complex: implications for stem cell fate. Stem cell research & therapy. vol 16. issue 1. 2025-02-04. PMID:39901197. |
for over 20 years, significant progress has linked tsc1 or tsc2 gene mutations in stem cells to tuberous sclerosis complex symptoms. |
2025-02-04 |
2025-02-06 |
Not clear |
| Zhiqin Du, Xiao Ma, Jianhua Li, Fang Yang, Yangfan Gu. Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant. Frontiers in cardiovascular medicine. vol 11. 2025-02-04. PMID:39902087. |
case report: rare cardiovascular characteristics of tuberous sclerosis complex with novel tsc2 variant. |
2025-02-04 |
2025-02-06 |
Not clear |
| Mengqi Li, Xiaoyan Wei, Jinye Xiong, Jin-Wei Feng, Chen-Song Zhang, Sheng-Cai Li. Hierarchical inhibition of mTORC1 by glucose starvation-triggered AXIN lysosomal translocation and by AMPK. Life metabolism. vol 2. issue 3. 2025-01-28. PMID:39872013. |
when glucose is replete, mammalian/mechanistic target of rapamycin complex 1 (mtorc1) is active and anchored to the lysosomal surface via the two gtpases, ras-related gtpase (rag) and ras homolog enriched in brain (rheb), which are regulated by ragulator and tuberous sclerosis complex 2 (tsc2), respectively. |
2025-01-28 |
2025-01-30 |
Not clear |
| Hanghang Wang, Danjing Hu, Chongsheng Cheng, Xiaoxin Zhang, Junya Liu, Xinlun Tian, Hongbing Zhang, Kai-Feng X. Synergistic effects of mTOR inhibitors with VEGFR3 inhibitors on the interaction between TSC2-mutated cells and lymphatic endothelial cells. Science China. Life sciences. 2025-01-25. PMID:39862344. |
lymphangioleiomyomatosis (lam) is a rare neoplastic disease affecting the lung, kidney, and lymphatic system with a molecular mechanism of tuberous sclerosis complex 2 (tsc2) mutations. |
2025-01-25 |
2025-01-28 |
Not clear |
| Kunio Yui, George Imataka, Kotaro Yuge, Hitomi Sasaki, Tadashi Shiohama, Kyoichi Asada, Hidehisa Tachik. The Development of Methods of BLOTCHIP Current issues in molecular biology. vol 47. issue 1. 2025-01-24. PMID:39852149. |
the development of methods of blotchip mutations in tsc1 or tsc2 in axons induce tuberous sclerosis complex. |
2025-01-24 |
2025-01-27 |
human |
| Caitlin C Clements, Anne-Michelle Engelstad, Carol L Wilkinson, Carly Hyde, Megan Hartney, Alexandra Simmons, Helen Tager-Flusberg, Shafali Jeste, Charles A Nelso. Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures. Journal of neurodevelopmental disorders. vol 17. issue 1. 2025-01-18. PMID:39827117. |
tuberous sclerosis complex (tsc) is a rare genetic condition caused by mutation to tsc1 or tsc2 genes, with a population prevalence of 1/7000 births. |
2025-01-18 |
2025-01-23 |
Not clear |
| Na Zhao, Qiuhong Xiong, Ping Li, Guangxin Chen, Han Xiao, Changxin W. TSC complex decrease the expression of mTOR by regulated miR-199b-3p. Scientific reports. vol 15. issue 1. 2025-01-13. PMID:39806027. |
genetic variations in either tsc1 or tsc2 cause tuberous sclerosis complex (tsc) disease which is a rare autosomal dominant disorder resulting in impairment of multiple organ systems. |
2025-01-13 |
2025-01-16 |
Not clear |