LRP5 mutations are associated with osteoporosis, impaired glucose tolerance and hypercholesterolemia

被引:0
|
作者
Saarinen, A. [1 ]
Saukkonen, T. [2 ]
Somer, M. [3 ]
Laine, C. M. [2 ]
Toiviainen-Salo, S. [4 ]
Lehesjoki, A. [1 ]
Makitie, O. [2 ]
机构
[1] Univ Helsinki, Folkhalsan Inst Genet, Helsinki, Finland
[2] Univ Helsinki, Hosp Children & Adolescents, Helsinki, Finland
[3] Family Fed Finland, Helsinki, Finland
[4] Helsinki Univ Hosp, Helsinki Med Imaging Ctr, Helsinki, Finland
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
S281
引用
收藏
页码:S112 / S112
页数:1
相关论文
共 50 条
  • [1] Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
    Saarinen, Anne
    Saukkonen, Tero
    Kivela, Tero
    Lahtinen, Ulla
    Laine, Christine
    Somer, Mirja
    Toiviainen-Salo, Sanna
    Cole, William G.
    Lehesjoki, Anna-Elina
    Makitie, Outi
    CLINICAL ENDOCRINOLOGY, 2010, 72 (04) : 481 - 488
  • [2] LRP5 polymorphisms are associated with osteoporosis in males
    Koay, AM
    Vilarino-Guell, C
    Brown, MA
    Ebeling, PR
    BONE, 2005, 36 : S395 - S396
  • [3] Novel LRP5 to Osteoporosis Associated Variant Syndrome Pseudoglioma
    Alejandra Scaglia, Paula
    Braslavsky, Debora
    Sanguineti, Nora
    Cassinelli, Hamilton
    Ruiz Schenstrom, Olivia
    del Carmen Fernandez, Maria
    Aza Carmona, Miriam
    Nevado Blanco, Julian
    Daniel Lapunzina, Pablo
    Szlago, Marina
    Arberas, Claudia
    Elise Heath, Karen
    Rey, Rodolfo
    Bergada, Ignacio
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 16 - 16
  • [4] Novel Homozygous LRP5 Mutations in Patients with Osteoporosis-Pseudoglioma Syndrome
    Saffari, Fatemeh
    Heidari, Abolfazl
    Esmailzadehha, Neda
    Homaei, Ali
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 139 - 139
  • [5] Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men
    Crabbe, P
    Balemans, W
    Willaert, A
    Van Pottelbergh, I
    Cleiren, E
    Coucke, PJ
    Ai, MR
    Goemaere, S
    Van Hul, W
    De Paepe, A
    Kaufman, JM
    JOURNAL OF BONE AND MINERAL RESEARCH, 2005, 20 (11) : 1951 - 1959
  • [6] 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
  • [7] 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
  • [8] Atypical Femoral Fracture in Osteoporosis Pseudoglioma Syndrome Associated with Two Novel Compound Heterozygous Mutations in LRP5
    Alonso, Nerea
    Soares, Dinesh C.
    McCloskey, Eugene V.
    Summers, Gregory D.
    Ralston, Stuart H.
    Gregson, Celia L.
    JOURNAL OF BONE AND MINERAL RESEARCH, 2015, 30 (04) : 615 - 620
  • [9] Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5
    Jiao, XD
    Ventruto, V
    Trese, MT
    Shastry, BS
    Hejtmancik, JF
    AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (05) : 878 - 884
  • [10] Novel Homozygous LRP5 Mutations in Mexican Patients with Osteoporosis-Pseudoglioma Syndrome
    Astiazaran, Mirena C.
    Cervantes-Sodi, Maria
    Rebolledo-Enriquez, Erick
    Chacon-Camacho, Oscar
    Villegas, Vanessa
    Carlos Zenteno, Juan
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2017, 21 (12) : 742 - 746