Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 1757C>A; Ser586Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_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: LDLR: S586*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.

Journal Of Geriatric Cardiology : Jgc

Wang, Xu X; Jiang, Long L; Sun, Li-Yuan LY; Wu, Yue Y; Wen, Wen-Hui WH; Wang, Xi-Fu XF; Liu, Wei W; Zhou, Yu-Jie YJ; Wang, Lu-Ya LY

Publication Date: 2018-06

Variant appearance in text: LDLR: 1757C>A; Ser586X

PubMed Link: 30108616

Variant Present in the following documents:

• Main text
• jgc-15-06-434.pdf
• jgc-15-06-434-s001.pdf

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The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Scientific Reports

Jiang, Long L; Wu, Wen-Feng WF; Sun, Li-Yuan LY; Chen, Pan-Pan PP; Wang, Wei W; Benito-Vicente, Asier A; Zhang, Fan F; Pan, Xiao-Dong XD; Cui, Wei W; Yang, Shi-Wei SW; Zhou, Yu-Jie YJ; Martin, Cesar C; Wang, Lu-Ya LY

Publication Date: 2016-11-10

Variant appearance in text: LDLR: Ser586X

PubMed Link: 27830735

Variant Present in the following documents:

• Main text
• srep36823.pdf

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

Jiang, Long L; Sun, Li-Yuan LY; Dai, Yan-Fang YF; Yang, Shi-Wei SW; Zhang, Feng F; Wang, Lu-Ya LY

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 1757C>A

PubMed Link: 26608663

Variant Present in the following documents:

• Main text

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