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6. 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]
7. 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]
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]
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11. Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex. Zeng LH; Rensing NR; Zhang B; Gutmann DH; Gambello MJ; Wong M Hum Mol Genet; 2011 Feb; 20(3):445-54. PubMed ID: 21062901 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex. Kashii H; Kasai S; Sato A; Hagino Y; Nishito Y; Kobayashi T; Hino O; Mizuguchi M; Ikeda K Hum Genomics; 2023 Feb; 17(1):4. PubMed ID: 36732866 [TBL] [Abstract][Full Text] [Related]
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15. 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]
16. The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort. Robinson J; Uzun O; Loh NR; Harris IR; Woolley TE; Harwood AJ; Gardner JF; Syed YA BMC Med; 2022 Apr; 20(1):123. PubMed ID: 35440050 [TBL] [Abstract][Full Text] [Related]
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20. Timing of mTOR activation affects tuberous sclerosis complex neuropathology in mouse models. Magri L; Cominelli M; Cambiaghi M; Cursi M; Leocani L; Minicucci F; Poliani PL; Galli R Dis Model Mech; 2013 Sep; 6(5):1185-97. PubMed ID: 23744272 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]