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: RYR1: G2446S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: RYR1: G2446S

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.

Neurology

Matthews, Emma E; Neuwirth, Christoph C; Jaffer, Fatima F; Scalco, Renata S RS; Fialho, Doreen D; Parton, Matt M; Raja Rayan, Dipa D; Suetterlin, Karen K; Sud, Richa R; Spiegel, Roland R; Mein, Rachel R; Houlden, Henry H; Schaefer, Andrew A; Healy, Estelle E; Palace, Jacqueline J; Quinlivan, Ros R; Treves, Susan S; Holton, Janice L JL; Jungbluth, Heinz H; Hanna, Michael G MG

Publication Date: 2018-01-30

Variant appearance in text: RYR1: Gly2446Ser

PubMed Link: 29298851

Variant Present in the following documents:

• Main text
• NEUROLOGY2017827741.pdf

View BVdb publication page