LRP6 c.1831C>T ;(p.R611C)

Variant ID: 12-12317428-G-A

NM_002336.2(LRP6):c.1831C>T;(p.R611C)

This variant was identified in 57 publications

View GRCh38 version.




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: LRP6: 1831C>T; Arg611Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: LRP6: 1831C>T; R611C; rs121918313
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: ADCAD2: R611C
PubMed Link: 35743896
Variant Present in the following documents:
  • Main text
  • life-12-00865.pdf
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Non-canonical WNT signalling in cardiovascular disease: mechanisms and therapeutic implications.

Nature Reviews. Cardiology
Akoumianakis, Ioannis I; Polkinghorne, Murray M; Antoniades, Charalambos C
Publication Date: 2022-12

Variant appearance in text: LRP6: R611C
PubMed Link: 35697779
Variant Present in the following documents:
  • Main text
  • 41569_2022_Article_718.pdf
View BVdb publication page



Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.

Metabolites
Ghaleb, Youmna Y; Elbitar, Sandy S; Philippi, Anne A; El Khoury, Petra P; Azar, Yara Y; Andrianirina, Miangaly M; Loste, Alexia A; Abou-Khalil, Yara Y; Nicolas, Gaël G; Le Borgne, Marie M; Moulin, Philippe P; Di-Filippo, Mathilde M; Charrière, Sybil S; Farnier, Michel M; Yelnick, Cécile C; Carreau, Valérie V; Ferrières, Jean J; Lecerf, Jean-Michel JM; Derksen, Alexa A; Bernard, Geneviève G; Gauthier, Marie-Soleil MS; Coulombe, Benoit B; Lütjohann, Dieter D; Fin, Bertrand B; Boland, Anne A; Olaso, Robert R; Deleuze, Jean-François JF; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M
Publication Date: 2022-03-18

Variant appearance in text: LRP6: Arg611Cys
PubMed Link: 35323704
Variant Present in the following documents:
  • Main text
  • metabolites-12-00262.pdf
View BVdb publication page



RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.

Nature Communications
Belenguer, Germán G; Mastrogiovanni, Gianmarco G; Pacini, Clare C; Hall, Zoe Z; Dowbaj, Anna M AM; Arnes-Benito, Robert R; Sljukic, Aleksandra A; Prior, Nicole N; Kakava, Sofia S; Bradshaw, Charles R CR; Davies, Susan S; Vacca, Michele M; Saeb-Parsy, Kourosh K; Koo, Bon-Kyoung BK; Huch, Meritxell M
Publication Date: 2022-01-17

Variant appearance in text: LRP6: R611C
PubMed Link: 35039505
Variant Present in the following documents:
  • Main text
View BVdb publication page



RNF43/ZNRF3 loss predisposes to hepatocellular-carcinoma by impairing liver regeneration and altering the liver lipid metabolic ground-state.

Nature Communications
Belenguer, Germán G; Mastrogiovanni, Gianmarco G; Pacini, Clare C; Hall, Zoe Z; Dowbaj, Anna M AM; Arnes-Benito, Robert R; Sljukic, Aleksandra A; Prior, Nicole N; Kakava, Sofia S; Bradshaw, Charles R CR; Davies, Susan S; Vacca, Michele M; Saeb-Parsy, Kourosh K; Koo, Bon-Kyoung BK; Huch, Meritxell M
Publication Date: 2022-01-17

Variant appearance in text: LRP6: R611C
PubMed Link: 35039505
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lrp6 Genotype affects Individual Susceptibility to Nonalcoholic Fatty Liver Disease and Silibinin Therapeutic Response via Wnt/β-catenin-Cyp2e1 Signaling.

International Journal Of Biological Sciences
Chen, Li-Jie LJ; Lin, Xiu-Xian XX; Guo, Jing J; Xu, Ying Y; Zhang, Song-Xia SX; Chen, Dan D; Zhao, Qing Q; Xiao, Jian J; Lian, Guang-Hui GH; Peng, Shi-Fang SF; Guo, Dong D; Yang, Hong H; Shu, Yan Y; Zhou, Hong-Hao HH; Zhang, Wei W; Chen, Yao Y
Publication Date: 2021

Variant appearance in text: LRP6: R611C
PubMed Link: 34671210
Variant Present in the following documents:
  • Main text
  • ijbsv17p3936.pdf
View BVdb publication page



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: R611C
PubMed Link: 34589484
Variant Present in the following documents:
  • Main text
  • fcell-09-714330.pdf
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WNT3A rs752107(C > T) Polymorphism Is Associated With an Increased Risk of Essential Hypertension and Related Cardiovascular Diseases.

Frontiers In Cardiovascular Medicine
Ren, Huan H; Luo, Jian-Quan JQ; Ouyang, Fan F; Cheng, Li L; Chen, Xiao-Ping XP; Zhou, Hong-Hao HH; Huang, Wei-Hua WH; Zhang, Wei W
Publication Date: 2021

Variant appearance in text: LRP6: R611C
PubMed Link: 34322525
Variant Present in the following documents:
  • Main text
  • fcvm-08-675222.pdf
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The complex role of Wnt ligands in type 2 diabetes mellitus and related complications.

Journal Of Cellular And Molecular Medicine
Nie, Xiaobo X; Wei, Xiaoyun X; Ma, Han H; Fan, Lili L; Chen, Wei-Dong WD
Publication Date: 2021-07

Variant appearance in text: LRP6: R611C
PubMed Link: 34042263
Variant Present in the following documents:
  • Main text
  • JCMM-25-6479.pdf
View BVdb publication page



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: R611C
PubMed Link: 33969358
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique Role of Caffeine Compared to Other Methylxanthines (Theobromine, Theophylline, Pentoxifylline, Propentofylline) in Regulation of AD Relevant Genes in Neuroblastoma SH-SY5Y Wild Type Cells.

International Journal Of Molecular Sciences
Janitschke, Daniel D; Lauer, Anna A AA; Bachmann, Cornel M CM; Seyfried, Martin M; Grimm, Heike S HS; Hartmann, Tobias T; Grimm, Marcus O W MOW
Publication Date: 2020-11-27

Variant appearance in text: LRP6: R611C
PubMed Link: 33260941
Variant Present in the following documents:
  • ijms-21-09015-s001.pdf
View BVdb publication page



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: R611C
PubMed Link: 33081636
Variant Present in the following documents:
  • Main text
  • rsob-10-200128.pdf
View BVdb publication page



Sclerostin and Vascular Pathophysiology.

International Journal Of Molecular Sciences
Catalano, Antonino A; Bellone, Federica F; Morabito, Nunziata N; Corica, Francesco F
Publication Date: 2020-07-06

Variant appearance in text: LRP6: R611C
PubMed Link: 32640551
Variant Present in the following documents:
  • Main text
  • ijms-21-04779.pdf
View BVdb publication page



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: LRP6: R611C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Translational Psychiatry
Husson, Thomas T; Lecoquierre, François F; Cassinari, Kevin K; Charbonnier, Camille C; Quenez, Olivier O; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Richard, Anne-Claire AC; Drouin-Garraud, Valérie V; Brehin, Anne-Claire AC; Soleimani, Maryam M; Taton, Romain R; Rotharmel, Maud M; Rosier, Antoine A; Chambon, Pascal P; Le Meur, Nathalie N; Joly-Helas, Géraldine G; Saugier-Veber, Pascale P; Boland, Anne A; Deleuze, Jean-François JF; Olaso, Robert R; Frebourg, Thierry T; Nicolas, Gael G; Guillin, Olivier O; Campion, Dominique D
Publication Date: 2020-02-24

Variant appearance in text: LRP6: 1831C>T; Arg611*
PubMed Link: 32094338
Variant Present in the following documents:
  • 41398_2020_760_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Lipoprotein receptor signalling in atherosclerosis.

Cardiovascular Research
Mineo, Chieko C
Publication Date: 2020-06-01

Variant appearance in text: LRP6: R611C
PubMed Link: 31834409
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role and mechanisms of action of microRNA‑21 as regards the regulation of the WNT/β‑catenin signaling pathway in the pathogenesis of non‑alcoholic fatty liver disease.

International Journal Of Molecular Medicine
Wang, Xiu-Mei XM; Wang, Xiao-Yi XY; Huang, Yu-Mei YM; Chen, Xia X; Lü, Mu-Han MH; Shi, Lei L; Li, Chang-Ping CP
Publication Date: 2019-12

Variant appearance in text: LRP6: R611C; rs121918313
PubMed Link: 31638173
Variant Present in the following documents:
  • Main text
  • ijmm-44-06-2201.pdf
View BVdb publication page



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: 1831C>T; Arg611Cys; rs121918313
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



TCF7L2 (Transcription Factor 7-Like 2) Regulation of GATA6 (GATA-Binding Protein 6)-Dependent and -Independent Vascular Smooth Muscle Cell Plasticity and Intimal Hyperplasia.

Arteriosclerosis, Thrombosis, And Vascular Biology
Srivastava, Roshni R; Rolyan, Harshvardhan H; Xie, Yi Y; Li, Na N; Bhat, Neha N; Hong, Lingjuan L; Esteghamat, Fatemehsadat F; Adeniran, Adebowale A; Geirsson, Arnar A; Zhang, Jiasheng J; Ge, Guanghao G; Nobrega, Marcelo M; Martin, Kathleen A KA; Mani, Arya A
Publication Date: 2019-02

Variant appearance in text: LRP6: R611C
PubMed Link: 30567484
Variant Present in the following documents:
  • Main text
  • atv-39-250.pdf
View BVdb publication page



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: R611C
PubMed Link: 30049588
Variant Present in the following documents:
  • Main text
View BVdb publication page



WNT Signaling in Cardiac and Vascular Disease.

Pharmacological Reviews
Foulquier, Sébastien S; Daskalopoulos, Evangelos P EP; Lluri, Gentian G; Hermans, Kevin C M KCM; Deb, Arjun A; Blankesteijn, W Matthijs WM
Publication Date: 2018-01

Variant appearance in text: LRP6: R611C
PubMed Link: 29247129
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular genetics and targeted therapy of WNT-related human diseases (Review).

International Journal Of Molecular Medicine
Katoh, Masuko M; Katoh, Masaru M
Publication Date: 2017-09

Variant appearance in text: LRP6: R611C
PubMed Link: 28731148
Variant Present in the following documents:
  • Main text
  • ijmm-40-03-0587.pdf
View BVdb publication page



Wnt signaling in cardiovascular disease: opportunities and challenges.

Current Opinion In Lipidology
Gay, Austin A; Towler, Dwight A DA
Publication Date: 2017-10

Variant appearance in text: LRP6: R611C
PubMed Link: 28723729
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cardiovascular disease and cancer: Evidence for shared disease pathways and pharmacologic prevention.

Atherosclerosis
Masoudkabir, Farzad F; Sarrafzadegan, Nizal N; Gotay, Carolyn C; Ignaszewski, Andrew A; Krahn, Andrew D AD; Davis, Margot K MK; Franco, Christopher C; Mani, Arya A
Publication Date: 2017-08

Variant appearance in text: LRP6: R611C
PubMed Link: 28624099
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Arg611Cys
PubMed Link: 28522145
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation of miR-21 targets endogenous lipoprotein receptor-related protein 6 and nonalcoholic fatty liver disease.

American Journal Of Translational Research
Li, Chang-Ping CP; Li, Hong-Jue HJ; Nie, Jiao J; Chen, Xia X; Zhou, Xian X
Publication Date: 2017

Variant appearance in text: LRP6: R611C
PubMed Link: 28337300
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R611C; rs121918313
PubMed Link: 27455246
Variant Present in the following documents:
  • Main text
  • ijms-17-01173-s001.pdf
  • ijms-17-01173.pdf
View BVdb publication page



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: R611C
PubMed Link: 26839654
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R611C
PubMed Link: 26825138
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: ADCAD2: R611C
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Impaired LRP6-TCF7L2 Activity Enhances Smooth Muscle Cell Plasticity and Causes Coronary Artery Disease.

Cell Reports
Srivastava, Roshni R; Zhang, Jiasheng J; Go, Gwang-Woong GW; Narayanan, Anand A; Nottoli, Timothy P TP; Mani, Arya A
Publication Date: 2015-10-27

Variant appearance in text: LRP6: R611C
PubMed Link: 26489464
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP6 in mesenchymal stem cells is required for bone formation during bone growth and bone remodeling.

Bone Research
Li, Changjun C; Williams, Bart O BO; Cao, Xu X; Wan, Mei M
Publication Date: 2014

Variant appearance in text: LRP6: R611C
PubMed Link: 26273519
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Bone Research
Maupin, Kevin A KA; Droscha, Casey J CJ; Williams, Bart O BO
Publication Date: 2013-03

Variant appearance in text: LRP6: Arg611Cys
PubMed Link: 26273492
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: LRP6: R611C
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
View BVdb publication page



Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) Is a Novel Nutritional Therapeutic Target for Hyperlipidemia, Non-Alcoholic Fatty Liver Disease, and Atherosclerosis.

Nutrients
Go, Gwang-woong GW
Publication Date: 2015-06-03

Variant appearance in text: LRP6: R611C
PubMed Link: 26046396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Vascular smooth muscle LRP6 limits arteriosclerotic calcification in diabetic LDLR-/- mice by restraining noncanonical Wnt signals.

Circulation Research
Cheng, Su-Li SL; Ramachandran, Bindu B; Behrmann, Abraham A; Shao, Jian-Su JS; Mead, Megan M; Smith, Carolyn C; Krchma, Karen K; Bello Arredondo, Yoanna Y; Kovacs, Attila A; Kapoor, Kapil K; Brill, Laurence M LM; Perera, Ranjan R; Williams, Bart O BO; Towler, Dwight A DA
Publication Date: 2015-07-03

Variant appearance in text: LRP6: R611C
PubMed Link: 26034040
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low density lipoprotein receptor related protein 1 and 6 gene variants and ischaemic stroke risk.

European Journal Of Neurology
Harriott, A M AM; Heckman, M G MG; Rayaprolu, S S; Soto-Ortolaza, A I AI; Diehl, N N NN; Kanekiyo, T T; Liu, C-C CC; Bu, G G; Malik, R R; , ; Cole, J W JW; Meschia, J F JF; Ross, O A OA
Publication Date: 2015-08

Variant appearance in text: rs121918313
PubMed Link: 26031789
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nonalcoholic fatty liver disease induced by noncanonical Wnt and its rescue by Wnt3a.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Wang, Shuxia S; Song, Kangxing K; Srivastava, Roshni R; Dong, Chao C; Go, Gwang-Woong GW; Li, Na N; Iwakiri, Yasuko Y; Mani, Arya A
Publication Date: 2015-08

Variant appearance in text: LRP6: R611C
PubMed Link: 25917329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Wnt signaling, de novo lipogenesis, adipogenesis and ectopic fat.

Oncotarget
Song, Kangxing K; Wang, Shuxia S; Mani, Mitra M; Mani, Arya A
Publication Date: 2014-11-30

Variant appearance in text: LRP6: R611C
PubMed Link: 25526027
Variant Present in the following documents:
  • Main text
View BVdb publication page



The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Lipids In Health And Disease
Xu, Shun S; Cheng, Jie J; Chen, Yu-Ning YN; Li, Keshen K; Ma, Ze-Wei ZW; Cen, Jin-Ming JM; Liu, Xinguang X; Yang, Xi-Li XL; Chen, Can C; Xiong, Xing-Dong XD
Publication Date: 2014-06-07

Variant appearance in text: LRP6: R611C
PubMed Link: 24906453
Variant Present in the following documents:
  • Main text
  • 1476-511X-13-94.pdf
View BVdb publication page



The combined hyperlipidemia caused by impaired Wnt-LRP6 signaling is reversed by Wnt3a rescue.

Cell Metabolism
Go, Gwang-Woong GW; Srivastava, Roshni R; Hernandez-Ono, Antonio A; Gang, Gyoungok G; Smith, Stephen B SB; Booth, Carmen J CJ; Ginsberg, Henry N HN; Mani, Arya A
Publication Date: 2014-02-04

Variant appearance in text: LRP6: R611C
PubMed Link: 24506864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: LRP6: R611C
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



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: R611C
PubMed Link: 23703864
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP6 enhances glucose metabolism by promoting TCF7L2-dependent insulin receptor expression and IGF receptor stabilization in humans.

Cell Metabolism
Singh, Rajvir R; De Aguiar, Renata Belfort RB; Naik, Sarita S; Mani, Sheida S; Ostadsharif, Kamal K; Wencker, Detlef D; Sotoudeh, Masoud M; Malekzadeh, Reza R; Sherwin, Robert S RS; Mani, Arya A
Publication Date: 2013-02-05

Variant appearance in text: LRP6: R611C
PubMed Link: 23395167
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP5 and LRP6 in development and disease.

Trends In Endocrinology And Metabolism: Tem
Joiner, Danese M DM; Ke, Jiyuan J; Zhong, Zhendong Z; Xu, H Eric HE; Williams, Bart O BO
Publication Date: 2013-01

Variant appearance in text: LRP6: R611C
PubMed Link: 23245947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chemical and genetic evidence for the involvement of Wnt antagonist Dickkopf2 in regulation of glucose metabolism.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Li, Xiaofeng X; Shan, Jufang J; Chang, Woochul W; Kim, Ingyu I; Bao, Ju J; Lee, Ho-Jin HJ; Zhang, Xinxin X; Samuel, Varman T VT; Shulman, Gerald I GI; Liu, Dakai D; Zheng, Jie J JJ; Wu, Dianqing D
Publication Date: 2012-07-10

Variant appearance in text: LRP6: R611C
PubMed Link: 22733757
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.

The Yale Journal Of Biology And Medicine
Go, Gwang-Woong GW; Mani, Arya A
Publication Date: 2012-03

Variant appearance in text: LRP6: R611C
PubMed Link: 22461740
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.

The Journal Of Biological Chemistry
Ye, Zhi-jia ZJ; Go, Gwang-Woong GW; Singh, Rajvir R; Liu, Wenzhong W; Keramati, Ali Reza AR; Mani, Arya A
Publication Date: 2012-01-06

Variant appearance in text: LRP6: R611C
PubMed Link: 22128165
Variant Present in the following documents:
  • Main text
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Structural basis of Wnt signaling inhibition by Dickkopf binding to LRP5/6.

Developmental Cell
Ahn, Victoria E VE; Chu, Matthew Ling-Hon ML; Choi, Hee-Jung HJ; Tran, Denise D; Abo, Arie A; Weis, William I WI
Publication Date: 2011-11-15

Variant appearance in text: LRP6: R611C
PubMed Link: 22000856
Variant Present in the following documents:
  • Main text
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Crystal structures of the extracellular domain of LRP6 and its complex with DKK1.

Nature Structural & Molecular Biology
Cheng, Zhihong Z; Biechele, Travis T; Wei, Zhiyi Z; Morrone, Seamus S; Moon, Randall T RT; Wang, Liguo L; Xu, Wenqing W
Publication Date: 2011-10-09

Variant appearance in text: LRP6: R611C
PubMed Link: 21984209
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modulation of canonical Wnt signaling by the extracellular matrix component biglycan.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Berendsen, Agnes D AD; Fisher, Larry W LW; Kilts, Tina M TM; Owens, Rick T RT; Robey, Pamela G PG; Gutkind, J Silvio JS; Young, Marian F MF
Publication Date: 2011-10-11

Variant appearance in text: LRP6: R611C
PubMed Link: 21969569
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Wild-type LRP6 inhibits, whereas atherosclerosis-linked LRP6R611C increases PDGF-dependent vascular smooth muscle cell proliferation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Keramati, Ali R AR; Singh, Rajvir R; Lin, Aiping A; Faramarzi, Saeed S; Ye, Zhi-jia ZJ; Mane, Shrikant S; Tellides, George G; Lifton, Richard P RP; Mani, Arya A
Publication Date: 2011-02-01

Variant appearance in text: LRP6: R611C
PubMed Link: 21245321
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Mutation in EGFP domain of LDL receptor-related protein 6 impairs cellular LDL clearance.

Circulation Research
Liu, Wenzhong W; Mani, Sheida S; Davis, Nicole R NR; Sarrafzadegan, Nizal N; Kavathas, Paula B PB; Mani, Arya A
Publication Date: 2008-11-21

Variant appearance in text: LRP6: R611C
PubMed Link: 18948618
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Msx2 exerts bone anabolism via canonical Wnt signaling.

The Journal Of Biological Chemistry
Cheng, Su-Li SL; Shao, Jian-Su JS; Cai, Jun J; Sierra, Oscar L OL; Towler, Dwight A DA
Publication Date: 2008-07-18

Variant appearance in text: LRP6: R611C
PubMed Link: 18487199
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Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease.

Proceedings Of The National Academy Of Sciences Of The United States Of America
De Ferrari, Giancarlo V GV; Papassotiropoulos, Andreas A; Biechele, Travis T; Wavrant De-Vrieze, Fabienne F; Avila, Miguel E ME; Major, Michael B MB; Myers, Amanda A; Sáez, Katia K; Henríquez, Juan P JP; Zhao, Alice A; Wollmer, M Axel MA; Nitsch, Roger M RM; Hock, Christoph C; Morris, Chris M CM; Hardy, John J; Moon, Randall T RT
Publication Date: 2007-05-29

Variant appearance in text: LRP6: R611C
PubMed Link: 17517621
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LRP6 mutation in a family with early coronary disease and metabolic risk factors.

Science (New York, N.Y.)
Mani, Arya A; Radhakrishnan, Jayaram J; Wang, He H; Mani, Alaleh A; Mani, Mohammad-Ali MA; Nelson-Williams, Carol C; Carew, Khary S KS; Mane, Shrikant S; Najmabadi, Hossein H; Wu, Dan D; Lifton, Richard P RP
Publication Date: 2007-03-02

Variant appearance in text: LRP6: R611C
PubMed Link: 17332414
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