Publications:

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LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.

Jbmr Plus

Whyte, Michael P MP; Mumm, Steven S; Baker, Jonathan C JC; Zhang, Fan F; Sedighi, Homer H; Duan, Shenghui S; Cundy, Tim T

Publication Date: 2023-04

Variant appearance in text: LRP6: Arg360His

PubMed Link: 37065631

Variant Present in the following documents:

• JBM4-7-e10717.pdf

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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: 1079G>A; Arg360His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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An LRP6 mutation (Arg360His) associated with low bone mineral density but not cardiovascular events in a Caucasian family.

Osteoporosis International : A Journal Established As Result Of Cooperation Between The European Foundation For Osteoporosis And The National Osteoporosis Foundation Of The Usa

Puente, Nuria N; Vega, Ana I AI; Hernandez, José L JL; Fernandez-Luna, Jose L JL; Riancho, Jose A JA

Publication Date: 2022-11

Variant appearance in text: LRP6: 1079G>A; Arg360His; rs141212743

PubMed Link: 35840698

Variant Present in the following documents:

• Main text
• 198_2022_Article_6494.pdf

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: LRP6: R360H; rs141212743

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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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: R360H

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: R360H

PubMed Link: 33969358

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R360H

PubMed Link: 33081636

Variant Present in the following documents:

• Main text
• rsob-10-200128.pdf

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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: 1079G>A; rs141212743

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: R360H

PubMed Link: 30049588

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: LRP6: R360H

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

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Wnt signaling, a novel pathway regulating blood pressure? State of the art review.

Atherosclerosis

Abou Ziki, Maen D MD; Mani, Arya A

Publication Date: 2017-07

Variant appearance in text: LRP6: R360H

PubMed Link: 28522145

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: rs141212743

PubMed Link: 27455246

Variant Present in the following documents:

• ijms-17-01173-s001.pdf

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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: R360H

PubMed Link: 26825138

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: LRP6: R360H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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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: 1079G>A; Arg360His

PubMed Link: 23703864

Variant Present in the following documents:

• Main text

View BVdb publication page

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