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: TSC2: W304*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants.

Scientific Reports

Reyna-Fabián, Miriam E ME; Hernández-Martínez, Nancy L NL; Alcántara-Ortigoza, Miguel A MA; Ayala-Sumuano, Jorge T JT; Enríquez-Flores, Sergio S; Velázquez-Aragón, José A JA; Varela-Echavarría, Alfredo A; Todd-Quiñones, Carlos G CG; González-Del Angel, Ariadna A

Publication Date: 2020-04-20

Variant appearance in text: TSC2: 912G>A; rs397514884

PubMed Link: 32313033

Variant Present in the following documents:

• Main text
• 41598_2020_Article_62759.pdf

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High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One

Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D

Publication Date: 2012

Variant appearance in text: TSC2: 912G>A; W304*

PubMed Link: 22558107

Variant Present in the following documents:

• pone.0035003.s004.pdf

View BVdb publication page