These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis. Korotkov A; Sim NS; Luinenburg MJ; Anink JJ; van Scheppingen J; Zimmer TS; Bongaarts A; Broekaart DWM; Mijnsbergen C; Jansen FE; Van Hecke W; Spliet WGM; van Rijen PC; Feucht M; Hainfellner JA; Kršek P; Zamecnik J; Crino PB; Kotulska K; Lagae L; Jansen AC; Kwiatkowski DJ; Jozwiak S; Curatolo P; Mühlebner A; Lee JH; Mills JD; van Vliet EA; Aronica E Neuropathol Appl Neurobiol; 2021 Oct; 47(6):796-811. PubMed ID: 33942341 [TBL] [Abstract][Full Text] [Related]
4. Biallelic Mutations in Winden KD; Sundberg M; Yang C; Wafa SMA; Dwyer S; Chen PF; Buttermore ED; Sahin M J Neurosci; 2019 Nov; 39(47):9294-9305. PubMed ID: 31591157 [TBL] [Abstract][Full Text] [Related]
5. Upregulation of 6-phosphofructo-2-kinase (PFKFB3) by hyperactivated mammalian target of rapamycin complex 1 is critical for tumor growth in tuberous sclerosis complex. Wang Y; Tang S; Wu Y; Wan X; Zhou M; Li H; Zha X IUBMB Life; 2020 May; 72(5):965-977. PubMed ID: 31958214 [TBL] [Abstract][Full Text] [Related]
6. Cell-specific alterations of glutamate receptor expression in tuberous sclerosis complex cortical tubers. Talos DM; Kwiatkowski DJ; Cordero K; Black PM; Jensen FE Ann Neurol; 2008 Apr; 63(4):454-65. PubMed ID: 18350576 [TBL] [Abstract][Full Text] [Related]
7. Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Lin S; Zeng JB; Zhao GX; Yang ZZ; Huang HP; Lin MT; Wu ZY; Wang N; Chen WJ; Fang L Seizure; 2019 Oct; 71():322-327. PubMed ID: 31525612 [TBL] [Abstract][Full Text] [Related]
8. Identification of TSC2 mosaic mutation limited to cortical tuber with TSC targeted sequencing: a case report and literature review. Zhou Y; Wang X; Wang J; Ding Y; Wang Y; Li H; Zhao R; Wu B Childs Nerv Syst; 2021 Dec; 37(12):3945-3949. PubMed ID: 33517515 [TBL] [Abstract][Full Text] [Related]
9. Tuberous Sclerosis Complex (TSC) Inactivation Increases Neuronal Network Activity by Enhancing Ca Hisatsune C; Shimada T; Miyamoto A; Lee A; Yamagata K J Neurosci; 2021 Sep; 41(39):8134-8149. PubMed ID: 34417327 [TBL] [Abstract][Full Text] [Related]
10. A distinct microRNA expression profile is associated with α[ Bagla S; Cukovic D; Asano E; Sood S; Luat A; Chugani HT; Chugani DC; Dombkowski AA Neurobiol Dis; 2018 Jan; 109(Pt A):76-87. PubMed ID: 28993242 [TBL] [Abstract][Full Text] [Related]
11. Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. Meng Y; Yu C; Chen M; Yu X; Sun M; Yan H; Zhao W; Yu S J Hum Genet; 2021 Mar; 66(3):227-236. PubMed ID: 32917966 [TBL] [Abstract][Full Text] [Related]
12. Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events. Qin W; Chan JA; Vinters HV; Mathern GW; Franz DN; Taillon BE; Bouffard P; Kwiatkowski DJ Brain Pathol; 2010 Nov; 20(6):1096-105. PubMed ID: 20633017 [TBL] [Abstract][Full Text] [Related]
13. TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling. Martin P; Wagh V; Reis SA; Erdin S; Beauchamp RL; Shaikh G; Talkowski M; Thiele E; Sheridan SD; Haggarty SJ; Ramesh V Mol Autism; 2020; 11(1):2. PubMed ID: 31921404 [TBL] [Abstract][Full Text] [Related]
14. The specificity and role of microglia in epileptogenesis in mouse models of tuberous sclerosis complex. Zhang B; Zou J; Han L; Beeler B; Friedman JL; Griffin E; Piao YS; Rensing NR; Wong M Epilepsia; 2018 Sep; 59(9):1796-1806. PubMed ID: 30079598 [TBL] [Abstract][Full Text] [Related]
17. Upregulation of the pathogenic transcription factor SPI1/PU.1 in tuberous sclerosis complex and focal cortical dysplasia by oxidative stress. Zimmer TS; Korotkov A; Zwakenberg S; Jansen FE; Zwartkruis FJT; Rensing NR; Wong M; Mühlebner A; van Vliet EA; Aronica E; Mills JD Brain Pathol; 2021 Sep; 31(5):e12949. PubMed ID: 33786950 [TBL] [Abstract][Full Text] [Related]
18. Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings. Caylor RC; Grote L; Thiffault I; Farrow EG; Willig L; Soden S; Amudhavalli SM; Nopper AJ; Horii KA; Fleming E; Jenkins J; Welsh H; Ilyas M; Engleman K; Abdelmoity A; Saunders CJ Neurogenetics; 2018 Aug; 19(3):205-213. PubMed ID: 29926239 [TBL] [Abstract][Full Text] [Related]
19. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Giannikou K; Zhu Z; Kim J; Winden KD; Tyburczy ME; Marron D; Parker JS; Hebert Z; Bongaarts A; Taing L; Long HW; Pisano WV; Alexandrescu S; Godlewski B; Nellist M; Kotulska K; Jozwiak S; Roszkowski M; Mandera M; Thiele EA; Lidov H; Getz G; Devinsky O; Lawrence MS; Ligon KL; Ellison DW; Sahin M; Aronica E; Meredith DM; Kwiatkowski DJ Mod Pathol; 2021 Feb; 34(2):264-279. PubMed ID: 33051600 [TBL] [Abstract][Full Text] [Related]
20. Finding a cure for tuberous sclerosis complex: From genetics through to targeted drug therapies. McEneaney LJ; Tee AR Adv Genet; 2019; 103():91-118. PubMed ID: 30904097 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]