Publications:

Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine

Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y

Publication Date: 2021

Variant appearance in text: TSC2: 1348G>T; Glu450*

PubMed Link: 34901059

Variant Present in the following documents:

• Main text
• fmed-08-744050.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TSC2: E450*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: rs45491095

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TSC2: 1348G>T; E450*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions.

American Journal Of Human Genetics

Niida, Y Y; Stemmer-Rachamimov, A O AO; Logrip, M M; Tapon, D D; Perez, R R; Kwiatkowski, D J DJ; Sims, K K; MacCollin, M M; Louis, D N DN; Ramesh, V V

Publication Date: 2001-09

Variant appearance in text: TSC2: E450X

PubMed Link: 11468687

Variant Present in the following documents:

• Main text

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