Publications:

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CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

International Journal Of Molecular Sciences

Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Francisco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J

Publication Date: 2022-04-28

Variant appearance in text: TSC2: 2380C>T; Gln794*

PubMed Link: 35563270

Variant Present in the following documents:

• ijms-23-04879.pdf

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Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.

Journal Of Neurochemistry

Turner, Thomas J TJ; Zourray, Clara C; Schorge, Stephanie S; Lignani, Gabriele G

Publication Date: 2021-04

Variant appearance in text: TSC2: Q794X

PubMed Link: 32880951

Variant Present in the following documents:

• Main text

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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: Q794*

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: TSC2: 2380C>T; Q794*; rs45517233

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: 2380C>T; Q794*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Acta Neuropathologica

Baldassari, Sara S; Ribierre, Théo T; Marsan, Elise E; Adle-Biassette, Homa H; Ferrand-Sorbets, Sarah S; Bulteau, Christine C; Dorison, Nathalie N; Fohlen, Martine M; Polivka, Marc M; Weckhuysen, Sarah S; Dorfmüller, Georg G; Chipaux, Mathilde M; Baulac, Stéphanie S

Publication Date: 2019-12

Variant appearance in text: TSC2: 2380C>T; Gln794*

PubMed Link: 31444548

Variant Present in the following documents:

• Main text
• 401_2019_Article_2061.pdf

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Neural progenitors derived from Tuberous Sclerosis Complex patients exhibit attenuated PI3K/AKT signaling and delayed neuronal differentiation.

Molecular And Cellular Neurosciences

Zucco, Avery J AJ; Pozzo, Valentina Dal VD; Afinogenova, Alina A; Hart, Ronald P RP; Devinsky, Orrin O; D'Arcangelo, Gabriella G

Publication Date: 2018-10

Variant appearance in text: rs45517233

PubMed Link: 30144504

Variant Present in the following documents:

• Main text

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Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.

Nature Communications

Chen, Ying-Bei YB; Xu, Jianing J; Skanderup, Anders Jacobsen AJ; Dong, Yiyu Y; Brannon, A Rose AR; Wang, Lu L; Won, Helen H HH; Wang, Patricia I PI; Nanjangud, Gouri J GJ; Jungbluth, Achim A AA; Li, Wei W; Ojeda, Virginia V; Hakimi, A Ari AA; Voss, Martin H MH; Schultz, Nikolaus N; Motzer, Robert J RJ; Russo, Paul P; Cheng, Emily H EH; Giancotti, Filippo G FG; Lee, William W; Berger, Michael F MF; Tickoo, Satish K SK; Reuter, Victor E VE; Hsieh, James J JJ

Publication Date: 2016-10-07

Variant appearance in text: TSC2: Q794*

PubMed Link: 27713405

Variant Present in the following documents:

• ncomms13131-s3.xlsx, sheet 1
• ncomms13131-s3.xlsx, sheet 2

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Tumor genetic analyses of patients with metastatic renal cell carcinoma and extended benefit from mTOR inhibitor therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Voss, Martin H MH; Hakimi, A Ari AA; Pham, Can G CG; Brannon, A Rose AR; Chen, Ying-Bei YB; Cunha, Luis F LF; Akin, Oguz O; Liu, Han H; Takeda, Shugaku S; Scott, Sasinya N SN; Socci, Nicholas D ND; Viale, Agnes A; Schultz, Nikolaus N; Sander, Chris C; Reuter, Victor E VE; Russo, Paul P; Cheng, Emily H EH; Motzer, Robert J RJ; Berger, Michael F MF; Hsieh, James J JJ

Publication Date: 2014-04-01

Variant appearance in text: TSC2: Q794*

PubMed Link: 24622468

Variant Present in the following documents:

• Main text

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