293 related articles for article (PubMed ID: 38540392)
1. The Genetics of Tuberous Sclerosis Complex and Related mTORopathies: Current Understanding and Future Directions.
Man A; Di Scipio M; Grewal S; Suk Y; Trinari E; Ejaz R; Whitney R
Genes (Basel); 2024 Mar; 15(3):. PubMed ID: 38540392
[TBL] [Abstract][Full Text] [Related]
2. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron A; Au KS; Northrup H
Am J Med Genet C Semin Med Genet; 2018 Sep; 178(3):281-290. PubMed ID: 30255984
[TBL] [Abstract][Full Text] [Related]
3. mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia.
Nguyen LH; Mahadeo T; Bordey A
J Neurosci; 2019 Apr; 39(14):2762-2773. PubMed ID: 30700531
[TBL] [Abstract][Full Text] [Related]
4. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex.
Salussolia CL; Klonowska K; Kwiatkowski DJ; Sahin M
Annu Rev Genomics Hum Genet; 2019 Aug; 20():217-240. PubMed ID: 31018109
[TBL] [Abstract][Full Text] [Related]
5. Epilepsy in the mTORopathies: opportunities for precision medicine.
Moloney PB; Cavalleri GL; Delanty N
Brain Commun; 2021; 3(4):fcab222. PubMed ID: 34632383
[TBL] [Abstract][Full Text] [Related]
6. A large deletion in TSC2 causes tuberous sclerosis complex by dysregulating PI3K/AKT/mTOR signaling pathway.
Fu J; Liang P; Zheng Y; Xu C; Xiong F; Yang F
Gene; 2024 May; 909():148312. PubMed ID: 38412945
[TBL] [Abstract][Full Text] [Related]
7. High glucose concentrations mask cellular phenotypes in a stem cell model of tuberous sclerosis complex.
Rocktäschel P; Sen A; Cader MZ
Epilepsy Behav; 2019 Dec; 101(Pt B):106581. PubMed ID: 31761686
[TBL] [Abstract][Full Text] [Related]
8. Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Klonowska K; Giannikou K; Grevelink JM; Boeszoermenyi B; Thorner AR; Herbert ZT; Afrin A; Treichel AM; Hamieh L; Kotulska K; Jozwiak S; Moss J; Darling TN; Kwiatkowski DJ
Am J Hum Genet; 2023 Jun; 110(6):979-988. PubMed ID: 37141891
[TBL] [Abstract][Full Text] [Related]
9. Identification of a Novel TSC2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
Papageorgiou G; Skouteris N; Valavanis C; Stanc GM; Souka E; Charalampakis N
Rev Recent Clin Trials; 2023; 18(4):304-312. PubMed ID: 37877150
[TBL] [Abstract][Full Text] [Related]
10. A Bama miniature pig model of monoallelic TSC1 mutation for human tuberous sclerosis complex.
Li X; Hu T; Liu J; Fang B; Geng X; Xiong Q; Zhang L; Jin Y; Liu X; Li L; Wang Y; Li R; Bai X; Yang H; Dai Y
J Genet Genomics; 2020 Dec; 47(12):735-742. PubMed ID: 33612456
[TBL] [Abstract][Full Text] [Related]
11. A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits.
Feliciano DM; Lin TV; Hartman NW; Bartley CM; Kubera C; Hsieh L; Lafourcade C; O'Keefe RA; Bordey A
Int J Dev Neurosci; 2013 Nov; 31(7):667-78. PubMed ID: 23485365
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Tuberous sclerosis complex.
Hasbani DM; Crino PB
Handb Clin Neurol; 2018; 148():813-822. PubMed ID: 29478616
[TBL] [Abstract][Full Text] [Related]
14. Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.
Kútna V; O'Leary VB; Newman E; Hoschl C; Ovsepian SV
Neurotherapeutics; 2021 Apr; 18(2):845-858. PubMed ID: 33398801
[TBL] [Abstract][Full Text] [Related]
15. Renal Cell Carcinoma in Tuberous Sclerosis Complex.
Henske EP; Cornejo KM; Wu CL
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680979
[TBL] [Abstract][Full Text] [Related]
16. Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.
Luo C; Zhang Y; Zhang YS; Zhang MX; Ning J; Chen MF; Li Y; Qi L; Zu XB; Li YL; Cai Y
Orphanet J Rare Dis; 2022 Jul; 17(1):288. PubMed ID: 35870981
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Low-level mosaicism in tuberous sclerosis complex in four unrelated patients: Comparison of clinical characteristics and diagnostic pathways.
Manzanilla-Romero HH; Weis D; Schnaiter S; Rudnik-Schöneborn S
Am J Med Genet A; 2021 Dec; 185(12):3851-3858. PubMed ID: 34328706
[TBL] [Abstract][Full Text] [Related]
19. Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.
Rosengren T; Nanhoe S; de Almeida LGD; Schönewolf-Greulich B; Larsen LJ; Hey CAB; Dunø M; Ek J; Risom L; Nellist M; Møller LB
Sci Rep; 2020 Jun; 10(1):9909. PubMed ID: 32555378
[TBL] [Abstract][Full Text] [Related]
20. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.
Dabora SL; Jozwiak S; Franz DN; Roberts PS; Nieto A; Chung J; Choy YS; Reeve MP; Thiele E; Egelhoff JC; Kasprzyk-Obara J; Domanska-Pakiela D; Kwiatkowski DJ
Am J Hum Genet; 2001 Jan; 68(1):64-80. PubMed ID: 11112665
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]