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: MTHFR: Y532*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.

Orphanet Journal Of Rare Diseases

Al-Shamsi, Aisha A; Hertecant, Jozef L JL; Souid, Abdul-Kader AK; Al-Jasmi, Fatma A FA

Publication Date: 2016-07-08

Variant appearance in text: MTHFR: 1596C>G

PubMed Link: 27391121

Variant Present in the following documents:

• Main text
• 13023_2016_Article_474.pdf

View BVdb publication page