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: TERT: Y825C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood

Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I

Publication Date: 2015-07-09

Variant appearance in text: TERT: 2474A>G; Tyr825Cys

PubMed Link: 26024875

Variant Present in the following documents:

• Main text

View BVdb publication page