Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).

Bone - 1 Dec 2020

Brance María Lorena, Brun Lucas R, Cóccaro Nicolás M, Aravena Andrés, Duan Shenghui, Mumm Steven, Whyte Michael P

Abstract excerpt

Wnt/β-catenin signaling is important for skeletal development and health. Eleven heterozygous gain-of-function missense mutations within the first β-propeller of low-density lipoprotein receptor-related protein 5 (LRP5) are known to cause the autosomal dominant disorder called high bone mass (HBM). In 2019, different heterozygous LRP6 missense mutations were identified in two American families with the HBM...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthralgia
Share to Bone Density
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to INDEL Mutation

Share to Low Density Lipoprotein Receptor-Related Protein-6

Share to Phenotype

Share to Young Adult

Source

Identifiers

PMID: 32730923
DOI: 10.1016/j.bone.2020.115550

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High bone mass from mutation of low-density lipoprotein receptor-related protein 6 (LRP6).PMID 32730923Read ↗

Novel variant in LRP6 associated with unusual and severe clinical presentation: Case report.Semantic proximity Read ↗

Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early-Onset Osteoporosis (EOOP).Semantic proximity Read ↗

Identification of Rare LRP5 Variants in a Cohort of Males with Impaired Bone Mass.Semantic proximity Read ↗

Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.Semantic proximity Read ↗

Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review.Semantic proximity Read ↗

LRP receptor family member associated bone disease.Semantic proximity Read ↗

High bone density due to a mutation in LDL-receptor-related protein 5.Semantic proximity Read ↗

Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.Semantic proximity Read ↗

Clinical features, treatment, and follow-up of OPPG and high-bone-mass disorders: LRP5 is a key regulator of bone mass.Semantic proximity Read ↗

Novel familial mutation of LRP5 causing high bone mass: Genetic analysis, clinical presentation, and characterization of bone matrix mineralization.Semantic proximity Read ↗

Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density.Semantic proximity Read ↗

Atypical femoral fracture in osteoporosis pseudoglioma syndrome associated with two novel compound heterozygous mutations in LRP5.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.