Literature DB >> 17437160

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome.

E R Barros, M R Dias da Silva, I S Kunii, O M Hauache, M Lazaretti-Castro.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17437160     DOI： 10.1007/s00198-007-0360-x

Source DB:  PubMed          Journal:  Osteoporos Int        ISSN： 0937-941X            Impact factor:   4.507


× No keyword cloud information.
  3 in total

1.  Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity.

Authors:  Eric A Stone; Arend Sidow
Journal:  Genome Res       Date:  2005-06-17       Impact factor: 9.043

2.  LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

Authors:  Y Gong; R B Slee; N Fukai; G Rawadi; S Roman-Roman; A M Reginato; H Wang; T Cundy; F H Glorieux; D Lev; M Zacharin; K Oexle; J Marcelino; W Suwairi; S Heeger; G Sabatakos; S Apte; W N Adkins; J Allgrove; M Arslan-Kirchner; J A Batch; P Beighton; G C Black; R G Boles; L M Boon; C Borrone; H G Brunner; G F Carle; B Dallapiccola; A De Paepe; B Floege; M L Halfhide; B Hall; R C Hennekam; T Hirose; A Jans; H Jüppner; C A Kim; K Keppler-Noreuil; A Kohlschuetter; D LaCombe; M Lambert; E Lemyre; T Letteboer; L Peltonen; R S Ramesar; M Romanengo; H Somer; E Steichen-Gersdorf; B Steinmann; B Sullivan; A Superti-Furga; W Swoboda; M J van den Boogaard; W Van Hul; M Vikkula; M Votruba; B Zabel; T Garcia; R Baron; B R Olsen; M L Warman
Journal:  Cell       Date:  2001-11-16       Impact factor: 41.582

Review 3.  Wnt signaling in osteoblasts and bone diseases.

Authors:  Jennifer J Westendorf; Rachel A Kahler; Tania M Schroeder
Journal:  Gene       Date:  2004-10-27       Impact factor: 3.688
  3 in total
  9 in total

Review 1.  A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.

Authors:  Kevin A Maupin; Casey J Droscha; Bart O Williams
Journal:  Bone Res       Date:  2013-03-29       Impact factor: 13.567

Review 2.  LRP receptor family member associated bone disease.

Authors:  N Lara-Castillo; M L Johnson
Journal:  Rev Endocr Metab Disord       Date:  2015-06       Impact factor: 6.514

3.  Intrinsic disorder in spondins and some of their interacting partners.

Authors:  Oluwole Alowolodu; Gbemisola Johnson; Lamis Alashwal; Iqbal Addou; Irina V Zhdanova; Vladimir N Uversky
Journal:  Intrinsically Disord Proteins       Date:  2016-12-15

4.  LRP5 and bone mass regulation: Where are we now?

Authors:  Mark L Johnson
Journal:  Bonekey Rep       Date:  2012-01-10

5.  Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).

Authors:  C M Laine; B D Chung; M Susic; T Prescott; O Semler; T Fiskerstrand; P D'Eufemia; M Castori; M Pekkinen; E Sochett; W G Cole; C Netzer; O Mäkitie
Journal:  Eur J Hum Genet       Date:  2011-03-16       Impact factor: 4.246

6.  Genetic determinants of osteoporosis: common bases to cardiovascular diseases?

Authors:  Francesca Marini; Maria Luisa Brandi
Journal:  Int J Hypertens       Date:  2010-03-25       Impact factor: 2.420

Review 7.  Alternative splicing within the Wnt signaling pathway: role in cancer development.

Authors:  B Sumithra; Urmila Saxena; Asim Bikas Das
Journal:  Cell Oncol (Dordr)       Date:  2016-01-13       Impact factor: 6.730

Review 8.  The ever-expanding conundrum of primary osteoporosis: aetiopathogenesis, diagnosis, and treatment.

Authors:  Stefano Stagi; Loredana Cavalli; Salvatore Seminara; Maurizio de Martino; Maria Luisa Brandi
Journal:  Ital J Pediatr       Date:  2014-06-07       Impact factor: 2.638

9.  Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5.

Authors:  Noura Biha; S M Ghaber; M M Hacen; Corinne Collet
Journal:  Case Rep Genet       Date:  2016-01-19
  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.