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Juvenile Paget disease.
Polyzos SA, Cundy T, Mantzoros CS. Polyzos SA, et al. Metabolism. 2018 Mar;80:15-26. doi: 10.1016/j.metabol.2017.10.007. Epub 2017 Nov 22. Metabolism. 2018. PMID: 29080812 Review.
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). ...
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteopro …
Outliers of bone metabolic diseases.
Polyzos SA, Mantzoros CS. Polyzos SA, et al. Metabolism. 2018 Mar;80:1-4. doi: 10.1016/j.metabol.2017.09.009. Epub 2017 Oct 4. Metabolism. 2018. PMID: 28987276 No abstract available.
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Saito-Hakoda A, Kikuchi A, Takahashi T, Yokoyama Y, Himori N, Adachi M, Ikeda R, Nomura Y, Takayama J, Kawashima J, Katsuoka F, Fujishima F, Yamaguchi T, Ito A, Hanita T, Kanno J, Aizawa T, Nakazawa T, Kawase T, Tamiya G, Yamamoto M, Fujiwara I, Kure S. Saito-Hakoda A, et al. J Bone Miner Metab. 2023 Mar;41(2):193-202. doi: 10.1007/s00774-022-01392-w. Epub 2022 Dec 15. J Bone Miner Metab. 2023. PMID: 36520195 Review.
We identified a novel duplication variant of TNFRSF11A (72dup27). Angioid streaks were recognized in Juvenile Paget's disease due to loss-of-function variants in the gene TNFRSF11B, and thought to be specific for this disease. ...
We identified a novel duplication variant of TNFRSF11A (72dup27). Angioid streaks were recognized in Juvenile Paget's …
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Metab. 2021 Jan;39(1):45-53. doi: 10.1007/s00774-020-01148-4. Epub 2020 Sep 17. J Bone Miner Metab. 2021. PMID: 32940787 Review.
One is caused by the mutations inducing constitutional RANK activation or OPG deficiency, which increase osteoclastogenesis and accelerate bone turnover, resulting in juvenile Paget's disease 2, Paget disease of bone 2, familial expansile osteolysis, e …
One is caused by the mutations inducing constitutional RANK activation or OPG deficiency, which increase osteoclastogenesis and accelerate b …
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Whyte MP, Campeau PM, McAlister WH, Roodman GD, Kurihara N, Nenninger A, Duan S, Gottesman GS, Bijanki VN, Sedighi H, Veis DJ, Mumm S. Whyte MP, et al. Bone. 2020 Aug;137:115364. doi: 10.1016/j.bone.2020.115364. Epub 2020 Apr 13. Bone. 2020. PMID: 32298837 Free PMC article.
Juvenile Paget's disease (JPD) became in 1974 the commonly used name for ultra-rare heritable occurrences of rapid bone remodeling throughout of the skeleton that present in infancy or early childhood as fractures and deformity hallmarked biochemically …
Juvenile Paget's disease (JPD) became in 1974 the commonly used name for ultra-rare heritable occurrences of rap …
Off-label uses of denosumab in metabolic bone diseases.
Polyzos SA, Makras P, Tournis S, Anastasilakis AD. Polyzos SA, et al. Bone. 2019 Dec;129:115048. doi: 10.1016/j.bone.2019.115048. Epub 2019 Aug 24. Bone. 2019. PMID: 31454537 Review.
However, the imbalance of RANKL/RANK/osteoprotegerin is also implicated in the pathogenesis of several other rare metabolic bone diseases, including Juvenile Paget disease, fibrous dysplasia, Hajdu Cheney syndrome and Langerhans cell histiocytosis, thus rende …
However, the imbalance of RANKL/RANK/osteoprotegerin is also implicated in the pathogenesis of several other rare metabolic bone diseases, i …
Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant.
Ludwig K, Ward LM, Khan N, Robinson ME, Miranda V, Bardai G, Moffatt P, Rauch F. Ludwig K, et al. Bone. 2022 Jul;160:116400. doi: 10.1016/j.bone.2022.116400. Epub 2022 Mar 31. Bone. 2022. PMID: 35367406
Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive osteogenesis imperfecta ('OI type XII') and in one case of dominant juvenile Paget's disease. We present the first description of young adult siblings with OI due to …
Mutations in SP7 (encoding osterix) have been identified as a rare cause of recessive osteogenesis imperfecta ('OI type XII') and in one cas …
22 results