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: E423Gfs*6

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.

Npj Genomic Medicine

Wang, Huijun H; Qian, Yanyan Y; Lu, Yulan Y; Qin, Qian Q; Lu, Guoping G; Cheng, Guoqiang G; Zhang, Ping P; Yang, Lin L; Wu, Bingbing B; Zhou, Wenhao W

Publication Date: 2020

Variant appearance in text: MTHFR: 1267dupG; E423Gfs*6

PubMed Link: 32411386

Variant Present in the following documents:

• Main text
• 41525_2020_Article_129.pdf
• 41525_2020_129_MOESM1_ESM.pdf

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: MTHFR: 1266dupG; E423fs

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s011.pdf

View BVdb publication page