Publications:

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: NF1: L1104R

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: NF1: 3311T>G; L1104R

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V

Publication Date: 2019-11-21

Variant appearance in text: NF1: 3311T>G

PubMed Link: 31766501

Variant Present in the following documents:

• Main text
• cancers-11-01838.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NF1: L1104R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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The integrated landscape of driver genomic alterations in glioblastoma.

Nature Genetics

Frattini, Veronique V; Trifonov, Vladimir V; Chan, Joseph Minhow JM; Castano, Angelica A; Lia, Marie M; Abate, Francesco F; Keir, Stephen T ST; Ji, Alan X AX; Zoppoli, Pietro P; Niola, Francesco F; Danussi, Carla C; Dolgalev, Igor I; Porrati, Paola P; Pellegatta, Serena S; Heguy, Adriana A; Gupta, Gaurav G; Pisapia, David J DJ; Canoll, Peter P; Bruce, Jeffrey N JN; McLendon, Roger E RE; Yan, Hai H; Aldape, Ken K; Finocchiaro, Gaetano G; Mikkelsen, Tom T; Privé, Gilbert G GG; Bigner, Darell D DD; Lasorella, Anna A; Rabadan, Raul R; Iavarone, Antonio A

Publication Date: 2013-10

Variant appearance in text: NF1: L1104R

PubMed Link: 23917401

Variant Present in the following documents:

• NIHMS510851-supplement-3.xlsx, sheet 1

View BVdb publication page