ArticleAmerican journal of human genetics2016
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 79 citations in OpenAlex.
- Diagnosis and Management of Paget's Disease of Bone in Adults: A Clinical Guideline.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Guideline
- A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.The Journal of clinical endocrinology and metabolism · 2025Article
- Zebrafish (Biology · 2025Article
- Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.ACS pharmacology & translational science · 2025Review
- Temperature and photoperiod stress in zebrafish larvae: impacts on development, gene regulation and PGC migration.Fish physiology and biochemistry · 2025Article
- Epigenetic Regulation ofInternational journal of molecular sciences · 2025Article
- The value of morphology: osteoclast-like cells in soft tissue tumours.Pathology oncology research : POR · 2025Review
- Early stress exposure on zebrafish development: effects on survival, malformations and molecular alterations.Fish physiology and biochemistry · 2024Article
- Diagnosis and treatment of Paget's disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS).Journal of endocrinological investigation · 2024Review
- Article
- Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case.Skeletal radiology · 2024Article
- Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687.Calcified tissue international · 2023Article
- Osteolytic Bone Loss and Skeletal Deformities in a Mouse Model for Early-Onset Paget's Disease of Bone withPharmaceuticals (Basel, Switzerland) · 2023Article
- Article
- Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population.The Journal of clinical endocrinology and metabolism · 2023Article
- Stress decreases spermatozoa quality and induces molecular alterations in zebrafish progeny.BMC biology · 2023Article
- Article
- Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease.Circulation. Genomic and precision medicine · 2022Article
- Updates on Paget's Disease of Bone.Endocrinology and metabolism (Seoul, Korea) · 2022Article
- Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget's Disease of Bone.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
17 authors at 9 institutions in 5 countries.
Funding
Abstract
Paget disease of bone (PDB) is a skeletal disorder characterized by focal abnormalities of bone remodeling, which result in enlarged and deformed bones in one or more regions of the skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone (GCT). We performed whole-exome sequencing in a large family with 14 PDB-affected members, four of whom developed GCT at multiple pagetic skeletal sites, and we identified the c.2810C>G (p.Pro937Arg) missense mutation in the zinc finger protein 687 gene (ZNF687). The mutation precisely co-segregated with the clinical phenotype in all affected family members. The sequencing of seven unrelated individuals with GCT associated with PDB (GCT/PDB) identified the same mutation in all individuals, unravelling a founder effect. ZNF687 is highly expressed during osteoclastogenesis and osteoblastogenesis and is dramatically upregulated in the tumor tissue of individuals with GCT/PDB. Interestingly, our preliminary findings showed that ZNF687, indicated as a target gene of the NFkB transcription factor by ChIP-seq analysis, is also upregulated in the peripheral blood of PDB-affected individuals with (n = 5) or without (n = 6) mutations in SQSTM1, encouraging additional studies to investigate its potential role as a biomarker of PDB risk.
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