(Q35145935)

6 August 2017

0 references

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I (English)

1 reference

6 August 2017

1 reference

Eveline Boudin

2

0 references

Wim Van Hul

object named as

Wim Van Hul

8

0 references

Anna Villa

object named as

Anna Villa

9

0 references

author name string

Alessandra Pangrazio

1

1 reference

6 August 2017

Elke Piters

3

1 reference

6 August 2017

Giuseppe Damante

4

1 reference

6 August 2017

Nadia Lo Iacono

5

1 reference

6 August 2017

Angela Valentina D'Elia

6

1 reference

6 August 2017

Paolo Vezzoni

7

1 reference

6 August 2017

Cristina Sobacchi

10

1 reference

6 August 2017

publication date

11 May 2011

1 reference

6 August 2017

1 reference

6 August 2017

volume

49

1 reference

6 August 2017

issue

3

1 reference

6 August 2017

page(s)

568-571

1 reference

A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V).

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

The canonical Wnt signaling pathway plays an important role in lymphopoiesis and hematopoiesis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

High bone density due to a mutation in LDL-receptor-related protein 5

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3149657

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21600326

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.BONE.2011.05.006

1 reference

6 August 2017

1 reference

6 August 2017

1 reference