LRP5 c.3989C>T ;(p.A1330V)

Variant ID: 11-68201295-C-T

NM_002335.2(LRP5):c.3989C>T;(p.A1330V)

This variant was identified in 144 publications

View GRCh38 version.




Publications:


Osteoprotegerin/Receptor Activator of Nuclear Factor-Kappa B Ligand/Receptor Activator of Nuclear Factor-Kappa B Axis in Obesity, Type 2 Diabetes Mellitus, and Nonalcoholic Fatty Liver Disease.

Current Obesity Reports
Vachliotis, Ilias D ID; Polyzos, Stergios A SA
Publication Date: 2023-05-19

Variant appearance in text: rs3736228
PubMed Link: 37208545
Variant Present in the following documents:
  • Main text
  • 13679_2023_Article_505.pdf
View BVdb publication page



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: rs3736228
PubMed Link: 37202775
Variant Present in the following documents:
  • Main text
  • 13018_2023_Article_3829.pdf
View BVdb publication page



Lithium carbonate accelerates the healing of apical periodontitis.

Scientific Reports
Kagioka, Takumi T; Itoh, Shousaku S; Hue, Mai Thi MT; Abe, Makoto M; Hayashi, Mikako M
Publication Date: 2023-05-16

Variant appearance in text: LRP5: A1330V
PubMed Link: 37193735
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_34700.pdf
View BVdb publication page



Influence of Cholesterol on the Regulation of Osteoblast Function.

Metabolites
Akhmetshina, Alena A; Kratky, Dagmar D; Rendina-Ruedy, Elizabeth E
Publication Date: 2023-04-21

Variant appearance in text: LRP5: A1330V
PubMed Link: 37110236
Variant Present in the following documents:
  • metabolites-13-00578.pdf
View BVdb publication page



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: A1330V
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



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrating Common Risk Factors with Polygenic Scores Improves the Prediction of Type 2 Diabetes.

International Journal Of Molecular Sciences
Timasheva, Yanina Y; Balkhiyarova, Zhanna Z; Avzaletdinova, Diana D; Rassoleeva, Irina I; Morugova, Tatiana V TV; Korytina, Gulnaz G; Prokopenko, Inga I; Kochetova, Olga O
Publication Date: 2023-01-04

Variant appearance in text: rs3736228
PubMed Link: 36674502
Variant Present in the following documents:
  • ijms-24-00984.pdf
View BVdb publication page



Hippocampal dentate gyri proteomics reveals Wnt signaling involvement in the behavioral impairment in the THRSP-overexpressing ADHD mouse model.

Communications Biology
Custodio, Raly James Perez RJP; Kim, Hee Jin HJ; Kim, Jiyeon J; Ortiz, Darlene Mae DM; Kim, Mikyung M; Buctot, Danilo D; Sayson, Leandro Val LV; Lee, Hyun Jun HJ; Kim, Bung-Nyun BN; Yi, Eugene C EC; Cheong, Jae Hoon JH
Publication Date: 2023-01-16

Variant appearance in text: LRP5: Ala1330Val; rs3736228
PubMed Link: 36646879
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_4387.pdf
View BVdb publication page



Clinical relevance of genetic polymorphisms in WNT signaling pathway (SFRP1, WNT3A, CTNNB1, WIF-1, DKK-1, LRP5, LRP6) on pulmonary tuberculosis in a Chinese population.

Frontiers In Immunology
Huang, Qian Q; Wang, Chao-Cai CC; Liu, Yun-Guang YG; Zhao, Chang-Ming CM; Zhang, Tian-Ping TP; Liu, Yan Y; Wang, Hua H
Publication Date: 2022

Variant appearance in text: rs3736228
PubMed Link: 36569862
Variant Present in the following documents:
  • Main text
  • fimmu-13-1011700.pdf
View BVdb publication page



The role of metabolites under the influence of genes and lifestyles in bone density changes.

Frontiers In Nutrition
Lv, Xuewei X; Jiang, Yanfeng Y; Yang, Dantong D; Zhu, Chengkai C; Yuan, Huangbo H; Yuan, Ziyu Z; Suo, Chen C; Chen, Xingdong X; Xu, Kelin K
Publication Date: 2022

Variant appearance in text: rs3736228
PubMed Link: 36118775
Variant Present in the following documents:
  • Main text
  • fnut-09-934951.pdf
View BVdb publication page



Biomarkers as Predictive Factors of Anti-VEGF Response.

Biomedicines
Bobadilla, Miriam M; Pariente, Ana A; Oca, Ana I AI; Peláez, Rafael R; Pérez-Sala, Álvaro Á; Larráyoz, Ignacio M IM
Publication Date: 2022-04-26

Variant appearance in text: rs3736228
PubMed Link: 35625740
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01003.pdf
View BVdb publication page



A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.

Calcified Tissue International
Hofstaetter, Jochen G JG; Atkins, Gerald J GJ; Kato, Hajime H; Kogawa, Masakazu M; Blouin, Stéphane S; Misof, Barbara M BM; Roschger, Paul P; Evdokiou, Andreas A; Yang, Dongqing D; Solomon, Lucian B LB; Findlay, David M DM; Ito, Nobuaki N
Publication Date: 2022-10

Variant appearance in text: LRP5: 3989C>T; Ala1330Val
PubMed Link: 35618777
Variant Present in the following documents:
  • 223_2022_Article_988.pdf
View BVdb publication page



Diagnostic yield of bone fragility gene panel sequencing in children and young adults referred for idiopathic primary osteoporosis at a single regional reference centre.

Bone Reports
Rouleau, Coline C; Malorie, Margaux M; Collet, Corinne C; Porquet-Bordes, Valérie V; Gennero, Isabelle I; Eddiry, Sanaa S; Laroche, Michel M; Salles, Jean Pierre JP; Couture, Guillaume G; Edouard, Thomas T
Publication Date: 2022-06

Variant appearance in text: LRP5: Ala1330Val
PubMed Link: 35252483
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Whole Genome Sequencing Unravels New Genetic Determinants of Early-Onset Familial Osteoporosis and Low BMD in Malta.

Genes
Cilia, Chanelle C; Friggieri, Donald D; Vassallo, Josanne J; Xuereb-Anastasi, Angela A; Formosa, Melissa Marie MM
Publication Date: 2022-01-23

Variant appearance in text: LRP5: Ala1330Val; rs3736228
PubMed Link: 35205249
Variant Present in the following documents:
  • Main text
  • genes-13-00204.pdf
View BVdb publication page



Management of Osteoporosis in Men: A Narrative Review.

International Journal Of Molecular Sciences
Vescini, Fabio F; Chiodini, Iacopo I; Falchetti, Alberto A; Palermo, Andrea A; Salcuni, Antonio Stefano AS; Bonadonna, Stefania S; De Geronimo, Vincenzo V; Cesareo, Roberto R; Giovanelli, Luca L; Brigo, Martina M; Bertoldo, Francesco F; Scillitani, Alfredo A; Gennari, Luigi L
Publication Date: 2021-12-20

Variant appearance in text: LRP5: Ala1330Val
PubMed Link: 34948434
Variant Present in the following documents:
  • Main text
  • ijms-22-13640.pdf
View BVdb publication page



Management of Osteoporosis in Men: A Narrative Review.

International Journal Of Molecular Sciences
Vescini, Fabio F; Chiodini, Iacopo I; Falchetti, Alberto A; Palermo, Andrea A; Salcuni, Antonio Stefano AS; Bonadonna, Stefania S; De Geronimo, Vincenzo V; Cesareo, Roberto R; Giovanelli, Luca L; Brigo, Martina M; Bertoldo, Francesco F; Scillitani, Alfredo A; Gennari, Luigi L
Publication Date: 2021-12-20

Variant appearance in text: LRP5: Ala1330Val
PubMed Link: 34948434
Variant Present in the following documents:
  • Main text
  • ijms-22-13640.pdf
View BVdb publication page



Strengthening the reporting of observational studies in epidemiology using mendelian randomisation (STROBE-MR): explanation and elaboration.

Bmj (Clinical Research Ed.)
Skrivankova, Veronika W VW; Richmond, Rebecca C RC; Woolf, Benjamin A R BAR; Davies, Neil M NM; Swanson, Sonja A SA; VanderWeele, Tyler J TJ; Timpson, Nicholas J NJ; Higgins, Julian P T JPT; Dimou, Niki N; Langenberg, Claudia C; Loder, Elizabeth W EW; Golub, Robert M RM; Egger, Matthias M; Davey Smith, George G; Richards, J Brent JB
Publication Date: 2021-10-26

Variant appearance in text: rs3736228
PubMed Link: 34702754
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021-10-19

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 9
View BVdb publication page



Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp
Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC
Publication Date: 2021

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 34673281
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 3
View BVdb publication page



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: A1330V; rs3736228
PubMed Link: 34616152
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Wnt/β-catenin signaling pathway has a healing ability for periapical periodontitis.

Scientific Reports
Naruse, Haruna H; Itoh, Shousaku S; Itoh, Yuki Y; Kagioka, Takumi T; Abe, Makoto M; Hayashi, Mikako M
Publication Date: 2021-10-04

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 34608236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bone mineral density in high-level endurance runners: Part B-genotype-dependent characteristics.

European Journal Of Applied Physiology
Herbert, A J AJ; Williams, A G AG; Lockey, S J SJ; Erskine, R M RM; Sale, C C; Hennis, P J PJ; Day, S H SH; Stebbings, G K GK
Publication Date: 2022-01

Variant appearance in text: rs3736228
PubMed Link: 34550467
Variant Present in the following documents:
  • Main text
  • 421_2021_Article_4789.pdf
View BVdb publication page



Early-Onset Osteoporosis.

Calcified Tissue International
Mäkitie, Outi O; Zillikens, M Carola MC
Publication Date: 2022-05

Variant appearance in text: LRP5: A1330V
PubMed Link: 34236445
Variant Present in the following documents:
  • 223_2021_Article_885.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: LRP5: 3989C>T; A1330V; rs3736228
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Enhanced Identification of Novel Potential Variants for Appendicular Lean Mass by Leveraging Pleiotropy With Bone Mineral Density.

Frontiers In Immunology
Peng, Cheng C; Liu, Feng F; Su, Kuan-Jui KJ; Lin, Xu X; Song, Yu-Qian YQ; Shen, Jie J; Hu, Shi-Di SD; Chen, Qiao-Cong QC; Yuan, Hui-Hui HH; Li, Wen-Xi WX; Zeng, Chun-Ping CP; Deng, Hong-Wen HW; Lou, Hui-Ling HL
Publication Date: 2021

Variant appearance in text: rs3736228
PubMed Link: 33889153
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications
Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A
Publication Date: 2021-01-08

Variant appearance in text: LRP5: 3989C>T; A1330V; rs3736228
PubMed Link: 33420045
Variant Present in the following documents:
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
  • 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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: 3989C>T; A1330V; rs3736228
PubMed Link: 33302902
Variant Present in the following documents:
  • 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

Frontiers In Endocrinology
Trajanoska, Katerina K; Rivadeneira, Fernando F
Publication Date: 2020

Variant appearance in text: LRP5: Ala1330Val
PubMed Link: 33162933
Variant Present in the following documents:
  • Main text
  • fendo-11-556610.pdf
View BVdb publication page



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: A1330V
PubMed Link: 32884132
Variant Present in the following documents:
  • NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 10
View BVdb publication page



Association between HindIII (rs320) variant in the lipoprotein lipase gene and the presence of coronary artery disease and stroke among the Saudi population.

Saudi Journal Of Biological Sciences
Bogari, Neda M NM; Aljohani, Ashwag A; Dannoun, Anas A; Elkhateeb, Osama O; Porqueddu, Masimo M; Amin, Amr A AA; Bogari, Dema N DN; Taher, Mohiuddin M MM; Buba, Faruk F; Allam, Reem M RM; Bogari, Mustafa N MN; Alamanni, Francesco F
Publication Date: 2020-08

Variant appearance in text: rs3736228
PubMed Link: 32714026
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Systematic Review and Meta-Analysis of Candidate Gene Association Studies With Fracture Risk in Physically Active Participants.

Frontiers In Genetics
Ryan-Moore, Edward E; Mavrommatis, Yiannis Y; Waldron, Mark M
Publication Date: 2020

Variant appearance in text: rs3736228
PubMed Link: 32612634
Variant Present in the following documents:
  • Main text
  • fgene-11-00551.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs3736228
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes.

Bioscience Reports
Zhai, Yu Y; Yu, Lu L; Shao, Yang Y; Wang, Jianwei J
Publication Date: 2020-04-30

Variant appearance in text: rs3736228
PubMed Link: 32266926
Variant Present in the following documents:
  • BSR-2019-3185_supp.pdf
View BVdb publication page



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: 3989C>T; A1330V; rs3736228
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



ADULT OSTEOPOROSIS WITH A HISTORY OF CHILDHOOD-ONSET FRACTURE DUE TO AN LRP5 RECEPTOR VARIANT MUTATION.

Aace Clinical Case Reports
Shin, Terry T; Shapiro, Jay R JR
Publication Date: 2019

Variant appearance in text: LRP5: Ala1330Val
PubMed Link: 31967071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Dissection of Femoral and Tibial Microarchitecture.

Jbmr Plus
Lu, Lu L; Huang, Jinsong J; Xu, Fuyi F; Xiao, Zhousheng Z; Wang, Jing J; Zhang, Bing B; David, Nicolae Valentin NV; Arends, Danny D; Gu, Weikuan W; Ackert-Bicknell, Cheryl C; Sabik, Olivia L OL; Farber, Charles R CR; Quarles, Leigh Darryl LD; Williams, Robert W RW
Publication Date: 2019-12

Variant appearance in text: rs3736228
PubMed Link: 31844829
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms of FDPS, LRP5, SOST and VKORC1 genes and their relation with osteoporosis in postmenopausal Romanian women.

Plos One
Ciubean, Alina Deniza AD; Ungur, Rodica Ana RA; Irsay, Laszlo L; Ciortea, Viorela Mihaela VM; Borda, Ileana Monica IM; Dogaru, Gabriela Bombonica GB; Trifa, Adrian Pavel AP; Vesa, Stefan Cristian SC; Buzoianu, Anca Dana AD
Publication Date: 2019

Variant appearance in text: rs3736228
PubMed Link: 31774873
Variant Present in the following documents:
  • Main text
  • pone.0225776.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: LRP5: 3989C>T; Ala1330Val; rs3736228
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: Ala1330val
PubMed Link: 31560818
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bone metabolism genes variation and response to bisphosphonate treatment in women with postmenopausal osteoporosis.

Plos One
Marozik, Pavel P; Alekna, Vidmantas V; Rudenko, Ema E; Tamulaitiene, Marija M; Rudenka, Alena A; Mastaviciute, Asta A; Samokhovec, Volha V; Cernovas, Andrejus A; Kobets, Katsiaryna K; Mosse, Irma I
Publication Date: 2019

Variant appearance in text: LRP5: Ala1330Val; rs3736228
PubMed Link: 31437227
Variant Present in the following documents:
  • Main text
View BVdb publication page



KDR (VEGFR2) Genetic Variants and Serum Levels in Patients with Rheumatoid Arthritis.

Biomolecules
Paradowska-Gorycka, Agnieszka A; Stypinska, Barbara B; Pawlik, Andrzej A; Malinowski, Damian D; Romanowska-Prochnicka, Katarzyna K; Manczak, Malgorzata M; Olesinska, Marzena M
Publication Date: 2019-08-09

Variant appearance in text: LRP5: A1330V
PubMed Link: 31405022
Variant Present in the following documents:
  • Main text
  • biomolecules-09-00355.pdf
View BVdb publication page



Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Publication Date: 2019-09

Variant appearance in text: rs3736228
PubMed Link: 31397093
Variant Present in the following documents:
  • Main text
  • MGG3-7-e931.pdf
View BVdb publication page



Recent Advances in the Genetics of Fractures in Osteoporosis.

Frontiers In Endocrinology
Koromani, Fjorda F; Trajanoska, Katerina K; Rivadeneira, Fernando F; Oei, Ling L
Publication Date: 2019

Variant appearance in text: rs3736228
PubMed Link: 31231309
Variant Present in the following documents:
  • Main text
View BVdb publication page



LRP5, Bone Density, and Mechanical Stress: A Case Report and Literature Review.

Frontiers In Endocrinology
Norwitz, Nicholas G NG; Mota, Adrian Soto AS; Misra, Madhusmita M; Ackerman, Kathryn E KE
Publication Date: 2019

Variant appearance in text: LRP5: A1330V
PubMed Link: 30972028
Variant Present in the following documents:
  • Main text
  • fendo-10-00184.pdf
View BVdb publication page



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: 3989C>T; Ala1330Val
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Hsu, Yi-Hsiang YH; Estrada, Karol K; Evangelou, Evangelos E; Ackert-Bicknell, Cheryl C; Akesson, Kristina K; Beck, Thomas T; Brown, Suzanne J SJ; Capellini, Terence T; Carbone, Laura L; Cauley, Jane J; Cheung, Ching-Lung CL; Cummings, Steven R SR; Czerwinski, Stefan S; Demissie, Serkalem S; Econs, Michael M; Evans, Daniel D; Farber, Charles C; Gautvik, Kaare K; Harris, Tamara T; Kammerer, Candace C; Kemp, John J; Koller, Daniel L DL; Kung, Annie A; Lawlor, Debbie D; Lee, Miryoung M; Lorentzon, Mattias M; McGuigan, Fiona F; Medina-Gomez, Carolina C; Mitchell, Braxton B; Newman, Anne A; Nielson, Carrie C; Ohlsson, Claes C; Peacock, Munro M; Reppe, Sjur S; Richards, J Brent JB; Robbins, John J; Sigurdsson, Gunnar G; Spector, Timothy D TD; Stefansson, Kari K; Streeten, Elizabeth E; Styrkarsdottir, Unnur U; Tobias, Jonathan J; Trajanoska, Katerina K; Uitterlinden, André A; Vandenput, Liesbeth L; Wilson, Scott G SG; Yerges-Armstrong, Laura L; Young, Mariel M; Zillikens, M Carola MC; Rivadeneira, Fernando F; Kiel, Douglas P DP; Karasik, David D
Publication Date: 2019-07

Variant appearance in text: rs3736228
PubMed Link: 30888730
Variant Present in the following documents:
  • Main text
View BVdb publication page



New Insights Into Monogenic Causes of Osteoporosis.

Frontiers In Endocrinology
Mäkitie, Riikka E RE; Costantini, Alice A; Kämpe, Anders A; Alm, Jessica J JJ; Mäkitie, Outi O
Publication Date: 2019

Variant appearance in text: LRP5: A1330V
PubMed Link: 30858824
Variant Present in the following documents:
  • fendo-10-00070.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3736228
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: LRP5: A1330V
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



The involvement of the canonical Wnt-signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta-analysis.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Grünblatt, Edna E; Nemoda, Zsofia Z; Werling, Anna Maria AM; Roth, Alexander A; Angyal, Nora N; Tarnok, Zsanett Z; Thomsen, Hauke H; Peters, Triinu T; Hinney, Anke A; Hebebrand, Johannes J; Lesch, Klaus-Peter KP; Romanos, Marcel M; Walitza, Susanne S
Publication Date: 2019-09

Variant appearance in text: LRP5: Ala1330Val; rs3736228
PubMed Link: 30474181
Variant Present in the following documents:
  • Main text
View BVdb publication page



Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Molecular Vision
Jonsson, Frida F; Burstedt, Marie M; Kellgren, Therese G TG; Golovleva, Irina I
Publication Date: 2018

Variant appearance in text: LRP5: 3989C>T; Ala1330Val
PubMed Link: 30416333
Variant Present in the following documents:
  • Main text
  • mv-v24-667.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: LRP5: A1330V; rs3736228
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The interactions of physical activity, exercise and genetics and their associations with bone mineral density: implications for injury risk in elite athletes.

European Journal Of Applied Physiology
Herbert, Adam J AJ; Williams, Alun G AG; Hennis, Philip J PJ; Erskine, Robert M RM; Sale, Craig C; Day, Stephen H SH; Stebbings, Georgina K GK
Publication Date: 2019-01

Variant appearance in text: rs3736228
PubMed Link: 30377780
Variant Present in the following documents:
  • Main text
View BVdb publication page