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: rs2306862

PubMed Link: 37202775

Variant Present in the following documents:

• Main text
• 13018_2023_Article_3829.pdf

View BVdb publication page

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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: N740N; rs2306862

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: 2220C>T; N740N; rs2306862

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: rs2306862

PubMed Link: 33889153

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Asn740Asn; rs2306862

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: 2220C>T; N740N; rs2306862

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

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: 2220C>T; N740N; rs2306862

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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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: N740N

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 10

View BVdb publication page

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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: rs2306862

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: 2220C>T; N740N; rs2306862

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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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: 2220C>T; Asn740=; rs2306862

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: N740N; rs2306862

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LRP5: 2220C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs2306862

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: LRP5: 2220C>T; rs2306862

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.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: N740N

PubMed Link: 30112869

Variant Present in the following documents:

• Main text
• enm-33-318.pdf

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: 2220C>T; N740N; rs2306862

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood.

Bmc Medical Genetics

Correa-Rodríguez, María M; Viatte, Sebastien S; Massey, Jonathan J; Schmidt-RioValle, Jacqueline J; Rueda-Medina, Blanca B; Orozco, Gisela G

Publication Date: 2017-10-03

Variant appearance in text: rs2306862

PubMed Link: 28974197

Variant Present in the following documents:

• Main text

View BVdb publication page

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Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.

Frontiers In Genetics

Qi, Yu-He YH; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Chen, Jun-Yi JY; Huang, Wan-Jing WJ; Tian, Guo-Hong GH; Wang, Min M; Gan, De-Kang DK; Wu, Ji-Hong JH; Xu, Ge-Zhi GZ

Publication Date: 2017

Variant appearance in text: rs2306862

PubMed Link: 28890726

Variant Present in the following documents:

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: N740N; rs2306862

PubMed Link: 27582019

Variant Present in the following documents:

• Main text
• 12952_2016_Article_59.pdf

View BVdb publication page

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Associations between genetic variants in folate and drug metabolizing pathways and relapse risk in pediatric acute lymphoid leukemia on CCG-1952.

Leukemia Research Reports

Vujkovic, Marijana M; Kershenbaum, Aaron A; Wray, Lisa L; McWilliams, Thomas T; Cannon, Shannon S; Devidas, Meenakshi M; Stork, Linda L; Aplenc, Richard R

Publication Date: 2015

Variant appearance in text: rs2306862

PubMed Link: 26605150

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: LRP5: N740N; rs2306862

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

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: 2220C>T; N740N; rs2306862

PubMed Link: 26496393

Variant Present in the following documents:

• pone.0140684.s004.xlsx, sheet 2
• pone.0140684.s004.xlsx, sheet 5
• pone.0140684.s004.xlsx, sheet 4

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: LRP5: N740N; rs2306862

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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: N740N; rs2306862

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 high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

Plos One

Sarrión, Patricia P; Mellibovsky, Leonardo L; Urreizti, Roser R; Civit, Sergi S; Cols, Neus N; García-Giralt, Natàlia N; Yoskovitz, Guy G; Aranguren, Alvaro A; Malouf, Jorge J; Di Gregorio, Silvana S; Río, Luís Del LD; Güerri, Roberto R; Nogués, Xavier X; Díez-Pérez, Adolfo A; Grinberg, Daniel D; Balcells, Susana S

Publication Date: 2014

Variant appearance in text: LRP5: N740N; rs2306862

PubMed Link: 24736728

Variant Present in the following documents:

• Main text
• pone.0094607.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: N740N; rs2306862

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1
• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

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A family with Wagner syndrome with uveitis and a new versican mutation.

Molecular Vision

Rothschild, Pierre-Raphaël PR; Brézin, Antoine P AP; Nedelec, Brigitte B; Burin des Roziers, Cyril C; Ghiotti, Tiffany T; Orhant, Lucie L; Boimard, Mathieu M; Valleix, Sophie S

Publication Date: 2013

Variant appearance in text: LRP5: 2220C>T; N740N; rs2306862

PubMed Link: 24174867

Variant Present in the following documents:

• Main text

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: 2220C>T; N740N; rs2306862

PubMed Link: 23441120

Variant Present in the following documents:

• Main text
• mv-v19-476.pdf

View BVdb publication page

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Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype.

Clinical Transplantation

Israni, Ajay K AK; Leduc, Robert R; Jacobson, Pamala A PA; Wildebush, Winston W; Guan, Weihua W; Schladt, David D; Matas, Arthur J AJ; Oetting, William S WS; ,

Publication Date: 2013

Variant appearance in text: rs2306862

PubMed Link: 23350966

Variant Present in the following documents:

• Main text

View BVdb publication page

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No association between LRP5 gene polymorphisms and bone and obesity phenotypes in Chinese male-offspring nuclear families.

Acta Pharmacologica Sinica

Yu, Jin-bo JB; Ke, Yao-hua YH; He, Jin-wei JW; Zhang, Hao H; Hu, Wei-wei WW; Hu, Yun-qiu YQ; Li, Miao M; Liu, Yu-juan YJ; Gu, Jie-mei JM; Fu, Wen-zhen WZ; Gao, Gao G; Yue, Hua H; Xiao, Wen-jin WJ; Zhang, Zhen-lin ZL

Publication Date: 2010-11

Variant appearance in text: LRP5: N740N

PubMed Link: 20953208

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening.

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

Zhang, Y-P YP; Deng, F-Y FY; Chen, Y Y; Pei, Y-F YF; Fang, Y Y; Guo, Y-F YF; Guo, X X; Liu, X-G XG; Zhou, Q Q; Liu, Y-J YJ; Deng, H-W HW

Publication Date: 2010-05

Variant appearance in text: rs2306862

PubMed Link: 19629617

Variant Present in the following documents:

• Main text

View BVdb publication page

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Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.

Genomics

Xiong, Qing Q; Jiao, Yan Y; Hasty, Karen A KA; Canale, S Terry ST; Stuart, John M JM; Beamer, Wesley G WG; Deng, Hong-Wen HW; Baylink, David D; Gu, Weikuan W

Publication Date: 2009-05

Variant appearance in text: LRP5: 2220C>T

PubMed Link: 19150398

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: rs2306862

PubMed Link: 18588671

Variant Present in the following documents:

• Main text
• 1471-2350-9-55.pdf

View BVdb publication page

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A PAI-1 (SERPINE1) polymorphism predicts osteonecrosis in children with acute lymphoblastic leukemia: a report from the Children's Oncology Group.

Blood

French, Deborah D; Hamilton, Leo H LH; Mattano, Leonard A LA; Sather, Harland N HN; Devidas, Meenakshi M; Nachman, James B JB; Relling, Mary V MV; ,

Publication Date: 2008-05-01

Variant appearance in text: rs2306862

PubMed Link: 18285546

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of LRP5 polymorphisms on bone mineral density is apparent in childhood.

Calcified Tissue International

Koay, M Audrey MA; Tobias, Jonathan H JH; Leary, Sam D SD; Steer, Colin D CD; Vilariño-Güell, Carles C; Brown, Matthew A MA

Publication Date: 2007-07

Variant appearance in text: LRP5: N740N; rs2306862

PubMed Link: 17505772

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men.

Bone

Kiel, Douglas P DP; Ferrari, Serge L SL; Cupples, L Adrienne LA; Karasik, David D; Manen, Danielle D; Imamovic, Alma A; Herbert, Alan G AG; Dupuis, Josée J

Publication Date: 2007-03

Variant appearance in text: rs2306862

PubMed Link: 17137849

Variant Present in the following documents:

• Main text

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: N740N; rs2306862

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: N740N

PubMed Link: 12579474

Variant Present in the following documents:

• Main text

View BVdb publication page

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