Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity (Q34225781)

31 July 2017

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity (English)

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31 July 2017

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Outi Mäkitie

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Harald Jüppner

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Harald Jüppner

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Johanna Korvala

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Etienne Sochett

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Dirk Schnabel

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Stefano Mora

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Cynthia F Bartels

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Matthew L Warman

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Donald Deraska

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William G Cole

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Heini Hartikka

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Leena Ala-Kokko

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Minna Männikkö

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10 April 2012

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https://scigraph.springernature.com/pub.10.1186/1471-2350-13-26

31 July 2017

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cites work

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Structural Basis of Wnt Signaling Inhibition by Dickkopf Binding to LRP5/6

5 July 2018

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Crystal structures of the extracellular domain of LRP6 and its complex with DKK1

5 July 2018

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Wnt antagonists bind through a short peptide to the first β-propeller domain of LRP5/6

5 July 2018

1 reference

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Lrp5 functions in bone to regulate bone mass

5 July 2018

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

5 July 2018

1 reference

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Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.

5 July 2018

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Inhibition of tumorigenesis driven by different Wnt proteins requires blockade of distinct ligand-binding regions by LRP6 antibodies

5 July 2018

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First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function

5 July 2018

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Dkk1 stabilizes Wnt co-receptor LRP6: implication for Wnt ligand-induced LRP6 down-regulation

5 July 2018

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Reconstitution of a frizzled8.Wnt3a.LRP6 signaling complex reveals multiple Wnt and Dkk1 binding sites on LRP6

5 July 2018

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Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

5 July 2018

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Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia

5 July 2018

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The emerging role of serotonin (5-hydroxytryptamine) in the skeleton and its mediation of the skeletal effects of low-density lipoprotein receptor-related protein 5 (LRP5).

5 July 2018

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Lrp5 controls bone formation by inhibiting serotonin synthesis in the duodenum

5 July 2018

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Experimental murine endometriosis induces DNA methylation and altered gene expression in eutopic endometrium

5 July 2018

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Gene expression profiles of luteal phase fallopian tube epithelium from BRCA mutation carriers resemble high-grade serous carcinoma

5 July 2018

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Dkk1-induced inhibition of Wnt signaling in osteoblast differentiation is an underlying mechanism of bone loss in multiple myeloma

5 July 2018

1 reference

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

5 July 2018

1 reference

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Gene dosage alterations revealed by cDNA microarray analysis in cervical cancer: identification of candidate amplified and overexpressed genes

5 July 2018

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

5 July 2018

1 reference

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

5 July 2018

1 reference

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Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

SOST is a ligand for LRP5/LRP6 and a Wnt signaling inhibitor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

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

5 July 2018

1 reference

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Wnt signaling in osteoblasts and bone diseases

5 July 2018

1 reference

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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

5 July 2018

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The role of the Wnt-signaling antagonist DKK1 in the development of osteolytic lesions in multiple myeloma

5 July 2018

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Wise, a context-dependent activator and inhibitor of Wnt signalling

5 July 2018

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

5 July 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

5 July 2018

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

5 July 2018

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Idiopathic juvenile osteoporosis

5 July 2018

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Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Cloning of a novel member of the low-density lipoprotein receptor family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Wnt signaling: a common theme in animal development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3374890

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-26

Multilocus analysis of estrogen-related genes in Spanish postmenopausal women suggests an interactive role of ESR1, ESR2 and NRIP1 genes in the pathogenesis of osteoporosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-26

A1330V variant of the low-density lipoprotein receptor-related protein 5 (LRP5) gene decreases Wnt signaling and affects the total body bone mineral density in Japanese women.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-26

MUC1 as a discriminator between endometrium from fertile and infertile patients with PCOS and endometriosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-26

Influence of LRP5 Polymorphisms on Normal Variation in BMD

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-13-26

Deficient bone formation in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22487062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The bone formation defect in idiopathic juvenile osteoporosis is surface-specific

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22487062

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-13-26

1 reference

Dimensions Publication ID

31 July 2017

0 references

1 reference

31 July 2017

1 reference