Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice-Reference-Cited by-同舟云学术

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

Published:2021-05-06 Issue: Volume: Page:
ISSN:0884-0431
Container-title:Journal of Bone and Mineral Research
language:en
Short-container-title:J Bone Miner Res

Author:

Alonso Nerea¹^ORCID,Wani Sachin¹,Rose Lorraine¹²,van't Hof Rob J.¹³,Ralston Stuart H.¹^ORCID,Albagha Omar M.E.¹⁴^ORCID

Affiliation:

1. Rheumatology and Bone Disease Unit, Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine University of Edinburgh Edinburgh UK

2. Medical Research Council (MRC) Human Genetics Unit, Institute of Genetics and Molecular Medicine (IGMM) University of Edinburgh Edinburgh UK

3. Institute of Aging and Chronic Disease University of Liverpool Liverpool UK

4. College of Health and Life Sciences Hamad Bin Khalifa University Doha Qatar

Funder

H2020 European Research Council

Medical Research Council Canada

Wellcome Trust

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jbmr.4288

Reference24 articles.

1. Phenotypic characterization of early onset Paget's disease of bone caused by a 27‐bp duplication in the TNFRSF11A gene;Nakatsuka K;J Bone Miner Res,2003

2. Clinical and biochemical response of TNFRSF11A‐mediated early‐onset familial Paget disease to bisphosphonate therapy;Riches PL;Calcif Tissue Int,2008

3. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis;Hughes AE;Nat Genet,2000

4. Rare inherited forms of Paget's disease and related syndromes;Ralston SH;Calcif Tissue Int,2019

5. Signal peptide mutations in RANK prevent downstream activation of NF‐kappaB;Crockett JC;J Bone Miner Res,2011

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