A Chinese family with primary osteoporosis probably due to a heterozygote mutation in the LRP5 gene

被引：0
|
作者：
Sun, Yue [1 ]
Xia, Weibo [1 ]
Li, Mei [1 ]
Jiang, Yan [1 ]
Wang, Ou [1 ]
Xing, Xiaoping [1 ]
Zhang, Zhenlin [2 ]
Meng, Xunwu [1 ]
机构：
[1] Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Endocrinol, Beijing, Peoples R China
[2] Shanghai Jiao Tong Univ, Sch Med, Shanghai, Peoples R China
来源：
BONE | 2008年 / 43卷
关键词：
D O I：
10.1016/j.bone.2008.07.023
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：S26 / S27
页数：2
相关论文
共 50 条
  • [21] Heterozygous Mutation in LRP5 Gene Is Associated with Osteoporosis, Metaphyseal Dysplasia and Maxillary Hypoplasia in Two Sisters
    Michou, Laetitia
    Glorieux, Francis
    Brown, Jacques
    JOURNAL OF RHEUMATOLOGY, 2010, 37 (06) : 1301 - 1301
  • [22] Novel Homozygous Nonsense Mutation in the LRP5 Gene in Two Siblings with Osteoporosis-pseudoglioma Syndrome
    Heidari, Abolfazl
    Homaei, Ali
    Saffari, Fatemeh
    JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2023, 15 (03) : 318 - 323
  • [23] LRP5 GENE POLYMORPHISM AND OSTEOPOROSIS IN PATIENTS WITH INFLAMMATORY BOWEL DISEASES
    Kaczmarek-Rys, M.
    Szymczak-Tomczak, A.
    Hryhorowicz, S.
    Michalak, M.
    Eder, P.
    Lykowska-Szuber, L.
    Dobrowolska, A.
    Slomski, R.
    Krela-Kazmierczak, I.
    OSTEOPOROSIS INTERNATIONAL, 2020, 31 (SUPPL 1) : S609 - S609
  • [24] LRP5 polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis
    Zhou, Pei Ran
    Liu, Hai Juan
    Liao, Er Yuan
    Zhang, Zhen Lin
    Chen, De Cai
    Liu, Jian
    Wu, Wen
    Xing, Xiao Ping
    Xia, Wei Bo
    Xu, Ling
    Li, Mei
    PHARMACOGENOMICS, 2014, 15 (06) : 821 - 831
  • [25] LRP5 polymorphisms are associated with osteoporosis in males
    Koay, AM
    Vilarino-Guell, C
    Brown, MA
    Ebeling, PR
    BONE, 2005, 36 : S395 - S396
  • [26] Heterozygote loss-of-function variants in the LRP5 gene cause familial exudative vitreoretinopathy
    Zhao, Rulian
    Wang, Shiyuan
    Zhao, Peiquan
    Dai, Erkuan
    Zhang, Xiang
    Peng, Li
    He, Yunqi
    Yang, Mu
    Li, Shujin
    Yang, Zhenglin
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2022, 50 (04): : 441 - 448
  • [27] Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
    Hartikka, H
    Mäkitie, O
    Männikkö, M
    Doria, AS
    Daneman, A
    Cole, WG
    Ala-Kokko, L
    Sochett, EB
    JOURNAL OF BONE AND MINERAL RESEARCH, 2005, 20 (05) : 783 - 789
  • [28] A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes
    Agueda, L.
    Nogues, X.
    Bustamante, M.
    Jurado, S.
    Garcia-Giralt, N.
    Garces, J.
    Mellibovsky, L.
    Balcells, S.
    Diez-Perez, A.
    Grinberg, D.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2007, 22 : S187 - S187
  • [29] Effects of a mutation in the Lrp5 gene on bone biomechanical properties.
    Akhter, MP
    Cullen, DM
    Wells, DJ
    Johnson, ML
    Babij, P
    Haynatzki, GR
    Recker, RR
    JOURNAL OF BONE AND MINERAL RESEARCH, 2002, 17 : S432 - S432
  • [30] Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome
    Pekkinen, Minna
    Grigelioniene, Giedre
    Akin, Leyla
    Shah, Krati
    Karaer, Kadri
    Kurtoglu, Selim
    Ekbote, Alka
    Aycan, Zehra
    Sagsak, Elif
    Danda, Sumita
    Astrom, Eva
    Makitie, Outi
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (12) : 3132 - 3135
12345