Publications:

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LRP5-/6 gene polymorphisms and its association with risk of abnormal bone mass in postmenopausal women.

Journal Of Orthopaedic Surgery And Research

Li, Jun J; Liu, Zebing Z; Ren, Yanxia Y; Shao, Han H; Li, Siyuan S

Publication Date: 2023-05-18

Variant appearance in text: rs41494349

PubMed Link: 37202775

Variant Present in the following documents:

• Main text
• 13018_2023_Article_3829.pdf

View BVdb publication page

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: LRP5: Q89R

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.

Molecular Genetics And Genomics : Mgg

Zhao, Dichen D; Sun, Lei L; Zheng, Wenbin W; Hu, Jing J; Zhou, Bingna B; Wang, Ou O; Jiang, Yan Y; Xia, Weibo W; Xing, Xiaoping X; Li, Mei M

Publication Date: 2023-03-27

Variant appearance in text: LRP5: Q89R

PubMed Link: 36971833

Variant Present in the following documents:

• Main text
• 438_2023_Article_2008.pdf

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: LRP5: Q89R

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.

Frontiers In Pediatrics

Zhang, Wen W; Dai, Xiaohui X; Liu, Hanmin H; Li, Lei L; Zhou, Shu S; Zhu, Qi Q; Chen, Jiao J

Publication Date: 2022

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 36507129

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Novel mutations of the USH2A gene cause Usher syndrome in five Chinese families.

Bmc Ophthalmology

Xing, Dongjun D; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Yang, Yang Y; Li, Chang C; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2022-07-23

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 35870892

Variant Present in the following documents:

• 12886_2022_2532_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes.

Genes

Cicerone, Amanda Petrelli AP; Dailey, Wendy W; Sun, Michael M; Santos, Andrew A; Jeong, Daeun D; Jones, Lance L; Koustas, Konstaninos K; Drekh, Mary M; Schmitz, Keaton K; Haque, Naomi N; Felisky, Jennifer A JA; Guzman, Alvaro E AE; Mellert, Kendra K; Trese, Michael T MT; Capone, Antonio A; Drenser, Kimberly A KA; Mitton, Kenneth P KP

Publication Date: 2022-03-11

Variant appearance in text: LRP5: 266A>G; Gln89Arg; rs41494349

PubMed Link: 35328049

Variant Present in the following documents:

• genes-13-00495.pdf

View BVdb publication page

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Associations of LRP5 and MTHFR Gene Variants with Osteoarthritis Prevalence in Elderly Women: A Japanese Cohort Survey Randomly Sampled from a Basic Resident Registry.

Therapeutics And Clinical Risk Management

Nakano, Masaki M; Yui, Haruka H; Kikugawa, Shingo S; Tokida, Ryosuke R; Sakai, Noriko N; Kondo, Naoki N; Endo, Naoto N; Haro, Hirotaka H; Shimodaira, Hiroki H; Suzuki, Takako T; Kato, Hiroyuki H; Takahashi, Jun J; Nakamura, Yukio Y

Publication Date: 2021

Variant appearance in text: LRP5: Gln89Arg; rs41494349

PubMed Link: 34616152

Variant Present in the following documents:

• Main text
• tcrm-17-1065.pdf

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetic Architecture of High Bone Mass.

Frontiers In Endocrinology

Gregson, Celia L CL; Duncan, Emma L EL

Publication Date: 2020

Variant appearance in text: LRP5: 266A>G

PubMed Link: 33193107

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: LRP5: Q89R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 10

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Variations of Wnt/β-catenin pathway-related genes in susceptibility to knee osteoarthritis: A three-centre case-control study.

Journal Of Cellular And Molecular Medicine

Huang, Yong Y; Jiang, Lifeng L; Yang, Haoyu H; Wu, Lidong L; Xu, Nanwei N; Zhou, Xindie X; Li, Jin J

Publication Date: 2019-12

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 31560818

Variant Present in the following documents:

• Main text
• JCMM-23-8246.pdf

View BVdb publication page

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Clinical and Genetic Features of Familial Exudative Vitreoretinopathy With Only-Unilateral Abnormalities in a Chinese Cohort.

Jama Ophthalmology

Tian, Tian T; Chen, Chunli C; Zhang, Xiang X; Zhang, Qi Q; Zhao, Peiquan P

Publication Date: 2019-09-01

Variant appearance in text: LRP5: 266A>G; Q89R

PubMed Link: 31169861

Variant Present in the following documents:

• Main text

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: LRP5: 266A>G; Gln89Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Regulation of Osteoblast Metabolism by Wnt Signaling.

Endocrinology And Metabolism (Seoul, Korea)

Moorer, Megan C MC; Riddle, Ryan C RC

Publication Date: 2018-09

Variant appearance in text: LRP5: Q89R

PubMed Link: 30112869

Variant Present in the following documents:

• Main text
• enm-33-318.pdf

View BVdb publication page

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Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One

Kim, Stuart K SK

Publication Date: 2018

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 30048462

Variant Present in the following documents:

• pone.0200785.s003.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy.

International Journal Of Molecular Medicine

Lin, Ying Y; Gao, Hongbin H; Chen, Chuan C; Zhu, Yi Y; Li, Tao T; Liu, Bingqian B; Ma, Chenghong C; Jiang, Hongye H; Li, Yonghao Y; Huang, Ying Y; Wu, Qingxiu Q; Li, Haichun H; Liang, Xiaoling X; Jin, Chenjin C; Ye, Jianhua J; Huang, Xinhua X; Lu, Lin L

Publication Date: 2018-02

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 29207047

Variant Present in the following documents:

• Main text
• ijmm-41-02-0773.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: LRP5: 266A>G; Gln89Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Low density lipoprotein receptor-related protein 5 gene polymorphisms and osteoporosis in Thai menopausal women.

Journal Of Negative Results In Biomedicine

Kitjaroentham, Anong A; Hananantachai, Hathairad H; Phonrat, Benjaluck B; Preutthipan, Sangchai S; Tungtrongchitr, Rungsunn R

Publication Date: 2016-09-01

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 27582019

Variant Present in the following documents:

• Main text
• 12952_2016_Article_59.pdf

View BVdb publication page

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Characterization of genetically engineered mouse models carrying Col2a1-cre-induced deletions of Lrp5 and/or Lrp6.

Bone Research

Schumacher, Cassie A CA; Joiner, Danese M DM; Less, Kennen D KD; Drewry, Melissa Oosterhouse MO; Williams, Bart O BO

Publication Date: 2016

Variant appearance in text: LRP5: Q89R

PubMed Link: 26962465

Variant Present in the following documents:

• Main text
• boneres201542.pdf

View BVdb publication page

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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: EVR4: Q89R; rs41494349

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One

Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z

Publication Date: 2015

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 2

View BVdb publication page

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Mutations in Known Monogenic High Bone Mass Loci Only Explain a Small Proportion of High Bone Mass Cases.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Gregson, Celia L CL; Wheeler, Lawrie L; Hardcastle, Sarah A SA; Appleton, Louise H LH; Addison, Kathryn A KA; Brugmans, Marieke M; Clark, Graeme R GR; Ward, Kate A KA; Paggiosi, Margaret M; Stone, Mike M; Thomas, Joegi J; Agarwal, Rohan R; Poole, Kenneth E S KE; McCloskey, Eugene E; Fraser, William D WD; Williams, Eleanor E; Bullock, Alex N AN; Davey Smith, George G; Brown, Matthew A MA; Tobias, Jon H JH; Duncan, Emma L EL

Publication Date: 2016-03

Variant appearance in text: LRP5: 266A>G; rs41494349

PubMed Link: 26348019

Variant Present in the following documents:

• Main text
• JBMR-31-640.pdf

View BVdb publication page

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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: LRP5: Q89R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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LRP receptor family member associated bone disease.

Reviews In Endocrine & Metabolic Disorders

Lara-Castillo, N N; Johnson, M L ML

Publication Date: 2015-06

Variant appearance in text: LRP5: Q89R

PubMed Link: 26048454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Bone and the regulation of global energy balance.

Journal Of Internal Medicine

Zhang, Q Q; Riddle, R C RC; Clemens, T L TL

Publication Date: 2015-06

Variant appearance in text: LRP5: Q89R

PubMed Link: 25597336

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of the relationship between bone mineral density and low-density lipoprotein receptor-related protein 5 gene polymorphisms.

Plos One

Yi, Jiayong J; Cai, Yu Y; Yao, Zhenjun Z; Lin, Jianping J

Publication Date: 2013

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 24376863

Variant Present in the following documents:

• Main text
• pone.0085052.pdf

View BVdb publication page

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: LRP5: Q89R; rs41494349

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.

Molecular Vision

Kondo, Hiroyuki H; Kusaka, Shunji S; Yoshinaga, Aki A; Uchio, Eiichi E; Tawara, Akihiko A; Tahira, Tomoko T

Publication Date: 2013

Variant appearance in text: LRP5: 266A>G; Q89R; rs41494349

PubMed Link: 23441120

Variant Present in the following documents:

• Main text
• mv-v19-476.pdf

View BVdb publication page

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Functional analysis of disease-associated polymorphism LRP5.Q89R.

Molecular Vision

Mao, Weiming W; Wordinger, Robert J RJ; Clark, Abbot F AF

Publication Date: 2011-04-08

Variant appearance in text: LRP5: Q89R

PubMed Link: 21528003

Variant Present in the following documents:

• Main text
• mv-v17-894.pdf

View BVdb publication page

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Molecular genetic studies of gene identification for osteoporosis: the 2009 update.

Endocrine Reviews

Xu, Xiang-Hong XH; Dong, Shan-Shan SS; Guo, Yan Y; Yang, Tie-Lin TL; Lei, Shu-Feng SF; Papasian, Christopher J CJ; Zhao, Ming M; Deng, Hong-Wen HW

Publication Date: 2010-08

Variant appearance in text: rs41494349

PubMed Link: 20357209

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis.

Bmc Medical Genetics

Tran, Bich N H BN; Nguyen, Nguyen D ND; Eisman, John A JA; Nguyen, Tuan V TV

Publication Date: 2008-06-27

Variant appearance in text: rs41494349

PubMed Link: 18588671

Variant Present in the following documents:

• Main text
• 1471-2350-9-55.pdf

View BVdb publication page

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Molecular genetic studies of gene identification for osteoporosis: a 2004 update.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research

Liu, Yong-Jun YJ; Shen, Hui H; Xiao, Peng P; Xiong, Dong-Hai DH; Li, Li-Hua LH; Recker, Robert R RR; Deng, Hong-Wen HW

Publication Date: 2006-10

Variant appearance in text: LRP5: Q89R

PubMed Link: 16995806

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association between bone mineral density and LDL receptor-related protein 5 gene polymorphisms in young Korean men.

Journal Of Korean Medical Science

Koh, Jung Min JM; Jung, Min Hui MH; Hong, Jeong Soo JS; Park, Hyung Joo HJ; Chang, Jae Suk JS; Shin, Hyoung Doo HD; Kim, Shin Yoon SY; Kim, Ghi Su GS

Publication Date: 2004-06

Variant appearance in text: LRP5: Q89R

PubMed Link: 15201508

Variant Present in the following documents:

• Main text
• jkms-19-407.pdf

View BVdb publication page

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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites.

American Journal Of Human Genetics

Ferrari, Serge L SL; Deutsch, Samuel S; Choudhury, Urmila U; Chevalley, Thierry T; Bonjour, Jean-Philippe JP; Dermitzakis, Emmanouil T ET; Rizzoli, Rene R; Antonarakis, Stylianos E SE

Publication Date: 2004-05

Variant appearance in text: LRP5: Q89R

PubMed Link: 15077203

Variant Present in the following documents:

• Main text

View BVdb publication page

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Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

American Journal Of Human Genetics

Van Wesenbeeck, Liesbeth L; Cleiren, Erna E; Gram, Jeppe J; Beals, Rodney K RK; Bénichou, Olivier O; Scopelliti, Domenico D; Key, Lyndon L; Renton, Tara T; Bartels, Cindy C; Gong, Yaoqin Y; Warman, Matthew L ML; De Vernejoul, Marie-Christine MC; Bollerslev, Jens J; Van Hul, Wim W

Publication Date: 2003-03

Variant appearance in text: LRP5: Q89R

PubMed Link: 12579474

Variant Present in the following documents:

• Main text

View BVdb publication page

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