Publications:

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics

Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM

Publication Date: 2020-07-18

Variant appearance in text: SI: 65T>C; Ile22Thr

PubMed Link: 32682410

Variant Present in the following documents:

• 12881_2020_1087_MOESM1_ESM.xlsx, sheet 6

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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: SI: I22T

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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The induction of folding cooperativity by ligand binding drives the allosteric response of tetracycline repressor.

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

Reichheld, Sean E SE; Yu, Zhou Z; Davidson, Alan R AR

Publication Date: 2009-12-29

Variant appearance in text: SI: I22T

PubMed Link: 20080791

Variant Present in the following documents:

• Main text

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