Associated Papers
Advances in the genetics of Paget's disease of bone: from pathophysiology, diagnosis to clinical implications.
Michou L et al.
Expert Review of Endocrinology & Metabolism, 2025
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
Intrinsically Disordered Regions of Zinc Finger Protein 687 in Phase Separation: A Potentially Pathogenic Driver of Paget's Disease of Bone.
Wang J et al.
Acs Pharmacology & Translational Science, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Multifocal osteoclast-rich tumour in Paget bone disease and conventional giant cell tumour, two genetically distinct entities? Sequencing from a single case.
Haefliger S et al.
Skeletal Radiology, 2024
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.
Huybrechts Y et al.
Calcified Tissue International, 2023
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model.
Russo S et al.
Bone Research, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Update on the pathogenesis and genetics of Paget's disease of bone.
Gennari L et al.
Frontiers in Cell and Developmental Biology, 2022
Molecular genetic analysis and growth hormone response in patients with syndromic short stature.
Sun H et al.
Bmc Medical Genomics, 2021
ZNF687 Mutations in an Extended Cohort of Neoplastic Transformations in Paget's Disease of Bone: Implications for Clinical Pathology.
Scotto di Carlo F et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
ZNF687 mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone.
Divisato G et al.
Clinical Genetics, 2018
The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences.
Divisato G et al.
Oncotarget, 2017
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor.
Divisato G et al.
American Journal of Human Genetics, 2016