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5. 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]
6. 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]
7. 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]
8. Mutational analysis of TSC1 and TSC2 in Japanese patients with tuberous sclerosis complex revealed higher incidence of TSC1 patients than previously reported. Niida Y; Wakisaka A; Tsuji T; Yamada H; Kuroda M; Mitani Y; Okumura A; Yokoi A J Hum Genet; 2013 Apr; 58(4):216-25. PubMed ID: 23389244 [TBL] [Abstract][Full Text] [Related]
9. Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family. Ryu SW; Yoon JH; Kim DW; Han B; Han H; Han J; Lee H; Seo GH; Lee BH Mol Genet Genomic Med; 2024 Mar; 12(3):e2330. PubMed ID: 38265426 [TBL] [Abstract][Full Text] [Related]
11. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Niida Y; Stemmer-Rachamimov AO; Logrip M; Tapon D; Perez R; Kwiatkowski DJ; Sims K; MacCollin M; Louis DN; Ramesh V Am J Hum Genet; 2001 Sep; 69(3):493-503. PubMed ID: 11468687 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas, and renal cell carcinoma. Gupta S; Stanton ML; Reynolds JP; Whaley RD; Herrera-Hernandez L; Jimenez RE; Cheville JC Hum Pathol; 2022 Nov; 129():123-139. PubMed ID: 36115585 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Mutational analysis of TSC1 and TSC2 genes in Tuberous Sclerosis Complex patients from Greece. Avgeris S; Fostira F; Vagena A; Ninios Y; Delimitsou A; Vodicka R; Vrtel R; Youroukos S; Stravopodis DJ; Vlassi M; Astrinidis A; Yannoukakos D; Voutsinas GE Sci Rep; 2017 Dec; 7(1):16697. PubMed ID: 29196670 [TBL] [Abstract][Full Text] [Related]
19. Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. Giannikou K; Malinowska IA; Pugh TJ; Yan R; Tseng YY; Oh C; Kim J; Tyburczy ME; Chekaluk Y; Liu Y; Alesi N; Finlay GA; Wu CL; Signoretti S; Meyerson M; Getz G; Boehm JS; Henske EP; Kwiatkowski DJ PLoS Genet; 2016 Aug; 12(8):e1006242. PubMed ID: 27494029 [TBL] [Abstract][Full Text] [Related]
20. Pathogenesis of tuberous sclerosis subependymal giant cell astrocytomas: biallelic inactivation of TSC1 or TSC2 leads to mTOR activation. Chan JA; Zhang H; Roberts PS; Jozwiak S; Wieslawa G; Lewin-Kowalik J; Kotulska K; Kwiatkowski DJ J Neuropathol Exp Neurol; 2004 Dec; 63(12):1236-42. PubMed ID: 15624760 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]