High bone mass due to novel LRP5 and AMER1 mutations
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference19 articles.
1. 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;Ai;Mol. Cell Biol.,2005
2. Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling;Balemans;J. Bone Miner. Res. Offic. J. Am. Soc. Bone Miner. Res.,2007
3. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST);Balemans;Hum. Mol. Genet.,2001
4. The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations;Balemans;Calcif. tissue Int.,2008
5. Wnt antagonists bind through a short peptide to the first beta-propeller domain of LRP5/6;Bourhis;Structure,2011
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1. LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature;Archives of Osteoporosis;2023-09-02
2. Novel mutation in LRP5 gene cause rare osteosclerosis: cases studies and literature review;Molecular Genetics and Genomics;2023-03-27
3. LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6;JBMR Plus;2023-03-02
4. High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench;Journal of Bone and Mineral Research;2022-10-21
5. Wnt signalling in oral and maxillofacial diseases;Cell Biology International;2021-10-31
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