Publications:

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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: T173M

PubMed Link: 36971833

Variant Present in the following documents:

• Main text
• 438_2023_Article_2008.pdf

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Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Computational And Structural Biotechnology Journal

Zu, Bailing B; Zhang, Xiaoqing X; Xu, Yunlan Y; Xiang, Ying Y; Wang, Zhigang Z; Cai, Haiqing H; Wang, Bo B; You, Guoling G; Fu, Qihua Q

Publication Date: 2021

Variant appearance in text: LRP5: 518C>T; rs80358306

PubMed Link: 34194672

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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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: T173M

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 10

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: LRP5: 518C>T; Thr173Met

PubMed Link: 32483926

Variant Present in the following documents:

• AOS-98-e1034-s012.xlsx, sheet 1

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: LRP5: 518C>T; Thr173Met; rs80358306

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Familial Exudative Vitreoretinopathy-Related Disease-Causing Genes and Norrin/β-Catenin Signal Pathway: Structure, Function, and Mutation Spectrums.

Journal Of Ophthalmology

Xiao, Hongtao H; Tong, Yuna Y; Zhu, Yuxuan Y; Peng, Min M

Publication Date: 2019

Variant appearance in text: LRP5: 518C>T

PubMed Link: 31827910

Variant Present in the following documents:

• Main text
• JOPH2019-5782536.pdf

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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: LRP5: 518C>T; Thr173Met; rs80358306

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: LRP5: T173M

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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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: T173M

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: 518C>T

PubMed Link: 26348019

Variant Present in the following documents:

• Main text
• JBMR-31-640.pdf

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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: T173M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM2_ESM.xls, sheet 1
• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Identification of two novel LRP5 mutations in families with familial exudative vitreoretinopathy.

Molecular Vision

Fei, Ping P; Zhang, Qi Q; Huang, Luling L; Xu, Yu Y; Zhu, Xiong X; Tai, Zhengfu Z; Gong, Bo B; Ma, Shi S; Yao, Quanyao Q; Li, Jing J; Zhao, Peiquan P; Yang, Zhenglin Z

Publication Date: 2014

Variant appearance in text: LRP5: 518C>T

PubMed Link: 24715757

Variant Present in the following documents:

• Main text
• mv-v20-395.pdf

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

American Journal Of Human Genetics

Ai, Minrong M; Heeger, Shauna S; Bartels, Cynthia F CF; Schelling, Deborah K DK; ,

Publication Date: 2005-11

Variant appearance in text: OPPG: T173M

PubMed Link: 16252235

Variant Present in the following documents:

• Main text

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Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling.

Molecular And Cellular Biology

Ai, Minrong M; Holmen, Sheri L SL; Van Hul, Wim W; Williams, Bart O BO; Warman, Matthew L ML

Publication Date: 2005-06

Variant appearance in text: LRP5: T173M

PubMed Link: 15923613

Variant Present in the following documents:

• Main text

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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

American Journal Of Human Genetics

Toomes, Carmel C; Bottomley, Helen M HM; Jackson, Richard M RM; Towns, Katherine V KV; Scott, Sheila S; Mackey, David A DA; Craig, Jamie E JE; Jiang, Li L; Yang, Zhenglin Z; Trembath, Richard R; Woodruff, Geoffrey G; Gregory-Evans, Cheryl Y CY; Gregory-Evans, Kevin K; Parker, Michael J MJ; Black, Graeme C M GC; Downey, Louise M LM; Zhang, Kang K; Inglehearn, Chris F CF

Publication Date: 2004-04

Variant appearance in text: LRP5: T173M

PubMed Link: 15024691

Variant Present in the following documents:

• Main text

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