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: RUNX2: Y454C

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.

Bone

Cuellar, Araceli A; Bala, Krithi K; Di Pietro, Lorena L; Barba, Marta M; Yagnik, Garima G; Liu, Jia Lie JL; Stevens, Christina C; Hur, David J DJ; Ingersoll, Roxann G RG; Justice, Cristina M CM; Drissi, Hicham H; Kim, Jinoh J; Lattanzi, Wanda W; Boyadjiev, Simeon A SA

Publication Date: 2020-08

Variant appearance in text: rs1216479084

PubMed Link: 32360898

Variant Present in the following documents:

• Main text

View BVdb publication page