Publications:

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: 2034C>T

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: TSC2: 2034C>T; Ala678=; rs781740263

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

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Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Baba, Masaya M; Hong, Seung-Beom SB; Sharma, Nirmala N; Warren, Michelle B MB; Nickerson, Michael L ML; Iwamatsu, Akihiro A; Esposito, Dominic D; Gillette, William K WK; Hopkins, Ralph F RF; Hartley, James L JL; Furihata, Mutsuo M; Oishi, Shinya S; Zhen, Wei W; Burke, Terrence R TR; Linehan, W Marston WM; Schmidt, Laura S LS; Zbar, Berton B

Publication Date: 2006-10-17

Variant appearance in text: TSC2: 2034C>T

PubMed Link: 17028174

Variant Present in the following documents:

• Main text

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