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

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2021

Alonso Nerea, Wani Sachin, Rose Lorraine, Van't Hof Rob J, Ralston Stuart H, Albagha Omar M E

Abstract excerpt

Early onset familial Paget's disease of bone (EoPDB), familial expansile osteolysis, and expansile skeletal hyperphosphatasia are related disorders caused by insertion mutations in exon 1 of the TNFRSF11A gene, which encodes receptor activator of nuclear factor κB (RANK) protein. To understand the mechanisms underlying these disorders, we developed a mouse model carrying the 75dup27 mutation which causes EoPDB....

Read the complete abstract on PubMed

Topics

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

Share to Homozygote
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutagenesis, Insertional

Share to Osteitis Deformans

Share to Osteoclasts

Share to Osteopetrosis

Share to RANK Ligand

Share to Receptor Activator of Nuclear Factor-kappa B

Source

Identifiers

PMID: 33724536
DOI: 10.1002/jbmr.4288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.PMID 33724536Read ↗

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.Semantic proximity Read ↗

Characterization of a spontaneous osteopetrosis model using RANKL-dysfunctional mice.Semantic proximity Read ↗

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.Semantic proximity Read ↗

Mechanisms of disease: genetics of Paget's disease of bone and related disorders.Semantic proximity Read ↗

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.Semantic proximity Read ↗

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.Semantic proximity Read ↗

A novel murine model of early calcium pyrophosphate deposition disease based on the TNFRSF11B mutation mimics features of the human disease.Semantic proximity Read ↗

Juvenile Paget disease with unique compound heterozygous sequence variants in the TNFRSF11B geneSemantic proximity Read ↗

Paget’s disease: a review of the epidemiology, etiology, genetics, and treatmentSemantic proximity Read ↗

Mutations in Profilin 1 Cause Early-Onset Paget's Disease of Bone With Giant Cell Tumors.Semantic proximity Read ↗

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.Semantic proximity Read ↗

An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutationSemantic proximity Read ↗

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