ArticleFrontiers in endocrinology2022
Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.
Article in Frontiers in endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Paget's disease of bone: pathogenesis, ocular manifestations, and therapeutic strategies.Orphanet journal of rare diseases · 2026Review
- Paget's Disease of Bone and Normocalcemic Variant of Primary Hyperparathyroidism in an Osteoporotic Male: Exceptional Coexistence.Reports (MDPI) · 2025Article
- Label-free quantitative proteomics in serum reveals candidate biomarkers associated with low bone mineral density in Mexican postmenopausal women.GeroScience · 2024Article
- Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1.Scientific reports · 2024Article
- Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.Molecular neurodegeneration · 2023Review
- The role of microscopic properties on cortical bone strength of femoral neck.BMC musculoskeletal disorders · 2023Article
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
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Abstract
Objective: To evaluate the clinical features of sporadic Paget's disease of bone (PDB) in China and further explore the underlying genetic abnormalities of the disease. Methods: Clinical characteristics, biochemical indices, bone turnover markers and radiographic examinations of the patients were collected. Genomic DNA was extracted from peripheral blood and whole-exome sequencing was carried out to identify the potential pathogenic genes. The pathogenicity of the variants was thereafter investigated by bioinformatics analysis. Results: A total of 50 patients (57.20 ± 15.52 years, male/female: 1.63: 1) with PDB were included and the mean onset age was 48.34 years (48.34 ± 17.24 years). 94.0% of the patients exhibited symptomatic patterns described as bone pain (86.0%), elevated skin temperature at the lesion site (26.0%), bone deformity (22.0%) and local swelling (18.0%). The most frequently involved lesion sites were pelvis (52.0%), femur (42.0%), tibia (28.0%), skull (28.0%) and spine (18.0%), respectively. Additionally, 40.0% of them accompanied with osteoarthritis, 14.0% with pathological fractures, and the misdiagnosis rate of PDB was as high as 36.0%. Serum level of alkaline phosphatase was significantly increased, with the mean value of 284.00 U/L (quartiles, 177.00-595.00 U/L). Two heterozygous missense mutations of Conclusion: In contrast to Western patients, Chinese patients have an earlier onset age, more severe symptoms, and lower frequency of
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