Publications:

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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: LRP6: 1298A>G; Asn433Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: LRP6: 1298A>G; Asn433Ser

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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Regulation of the Low-Density Lipoprotein Receptor-Related Protein LRP6 and Its Association With Disease: Wnt/β-Catenin Signaling and Beyond.

Frontiers In Cell And Developmental Biology

Jeong, Wonyoung W; Jho, Eek-Hoon EH

Publication Date: 2021

Variant appearance in text: LRP6: N433S

PubMed Link: 34589484

Variant Present in the following documents:

• Main text
• fcell-09-714330.pdf

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Wnt Signaling Cascades and Their Role in Coronary Artery Health and Disease.

Journal Of Cellular Signaling

Weerackoon, Nadisha N; Gunawardhana, Kushan L KL; Mani, Arya A

Publication Date: 2021

Variant appearance in text: LRP6: N433S

PubMed Link: 33969358

Variant Present in the following documents:

• Main text

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The role of Wnt signalling in development of coronary artery disease and its risk factors.

Open Biology

Liu, Ya Y; Neogi, Arpita A; Mani, Arya A

Publication Date: 2020-10

Variant appearance in text: LRP6: N433S

PubMed Link: 33081636

Variant Present in the following documents:

• Main text
• rsob-10-200128.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LRP6: 1298A>G; Asn433Ser

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: LRP6: 1298A>G; Asn433Ser; rs397515473

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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The interplay of canonical and noncanonical Wnt signaling in metabolic syndrome.

Nutrition Research (New York, N.Y.)

Abou Ziki, Maen D MD; Mani, Arya A

Publication Date: 2019-10

Variant appearance in text: LRP6: N433S

PubMed Link: 30049588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

International Journal Of Molecular Sciences

Guo, Jian J; Li, Yang Y; Ren, Yi-Hong YH; Sun, Zhijun Z; Dong, Jie J; Yan, Han H; Xu, Yujun Y; Wang, Dao Wen DW; Zheng, Gu-Yan GY; Du, Jie J; Tian, Xiao-Li XL

Publication Date: 2016-07-22

Variant appearance in text: LRP6: N433S; rs397515473

PubMed Link: 27455246

Variant Present in the following documents:

• ijms-17-01173-s001.pdf

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Genetics of coronary artery disease and myocardial infarction.

World Journal Of Cardiology

Dai, Xuming X; Wiernek, Szymon S; Evans, James P JP; Runge, Marschall S MS

Publication Date: 2016-01-26

Variant appearance in text: LRP6: Asn433Ser

PubMed Link: 26839654

Variant Present in the following documents:

• Main text

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Metabolic syndrome: genetic insights into disease pathogenesis.

Current Opinion In Lipidology

Abou Ziki, Maen D MD; Mani, Arya A

Publication Date: 2016-04

Variant appearance in text: LRP6: N433S

PubMed Link: 26825138

Variant Present in the following documents:

• Main text

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Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

Human Mutation

Singh, Rajvir R; Smith, Emily E; Fathzadeh, Mohsen M; Liu, Wenzhong W; Go, Gwang-Woong GW; Subrahmanyan, Lakshman L; Faramarzi, Saeed S; McKenna, William W; Mani, Arya A

Publication Date: 2013-09

Variant appearance in text: LRP6: N433S

PubMed Link: 23703864

Variant Present in the following documents:

• Main text

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