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| 1 | 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显示文摘Paget’s disease(PDB)is a late-onset bone remodeling disorder with a broad spectrum of symptoms and complications.One of the most aggressive forms is caused by the P937R mutation in the ZNF687 gene.Although the genetic involvement of ZNF687 in PDB has been extensively studied,the molecular mechanisms underlying this association remain unclear.Here,we describe the first Zfp687 knock-in mouse model and demonstrate that the mutation recapitulates the PDB phenotype,resulting in severely altered bone remodeling.Through microcomputed tomography analysis,we observed that 8-month-old mutant mice showed a mainly osteolytic phase,with a significant decrease in the trabecular bone volume affecting the femurs and the vertebrae.Conversely,osteoblast activity was deregulated,producing disorganized bone.Notably,this phenotype became pervasive in 16-month-old mice,where osteoblast function overtook bone resorption,as highlighted by the presence of woven bone in histological analyses,consistent with the PDB phenotype.Furthermore,we detected osteophytes and intervertebral disc degeneration,outlining for the first time the link between osteoarthritis and PDB in a PDB mouse model.RNA sequencing of wild-type and Zfp687 knockout RAW264.7 cells identified a set of genes involved in osteoclastogenesis potentially regulated by Zfp687,e.g.,Tspan7,Cpe,Vegfc,and Ggt1,confirming its role in this process.Strikingly,in this mouse model,the mutation was also associated with a high penetrance of hepatocellular carcinomas.Thus,this study established an essential role of Zfp687 in the regulation of bone remodeling,offering the potential to therapeutically treat PDB,and underlines the oncogenic potential of ZNF687. | Sharon Russo Federica Scotto di Carlo Antonio Maurizi Giorgio Fortunato Anna Teti Danilo Licastro Carmine Settembre Tommaso Mello Fernando Gianfrancesco | 2023 | Bone Research2023，11，1： | 2 |
| 2 | Alagille syndrome: a new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA显示文摘 | Vozzi D Licastro D Martelossi S | 2013 | Mol Syndromol2013，4，4： | 1 |
| 3 | Synthesis of dimethyl α-hydroxyphosphonates from phosphoite and phenacyl chloride and cyanide显示文摘 | Ruveda M A de Licastro S A | 1972 | Tetrahedron1972，28，： | 1 |
| 4 | Increased plasma levelsof interleukin-1,interleukin-6 and α-l-antichymotrypsin in patientswith Alzheimer's disease:peripheral inflammation or signals fromthe brain显示文摘 | Licastro F PedriniS Ludovica C | | 0，，10： | 1 |
| 5 | The essential trace elements and thyroid hormone 显示文摘 | Mocchenegiani E zannoti M | 1992 | Lancet1992，339，8809： | 1 |
| 6 | Efficacy of a new combined larvicidal- aduhicidal ultralow volume formulation against Aedes aegypti (Diptera: Culicidae), vector of dengue显示文摘 | Lucia A Harburguer L Licastro S | 2009 | Parasitol Res2009，104，5： | 1 |
| 7 | Efficacy of a new combined larvicidal - adulticidal ultralow volume formulation against Aedes aegypti(Diptera:Culicidae),vector of dengue显示文摘 | Lucia A Harburguer L Licastro S | 2009 | Parasitol Res2009，104，5： | 1 |
| 8 | Management ofintramedullary tumors in children显示文摘 | Licastro G Missori P | 1993 | Acta Neurochir Wien1993，120，1： | 1 |
| 9 | A Role for apoE in Regulating the Levels of α-1-Antichymotrypsin in the Aging Mouse Brain and in Alzheimers Disease显示文摘 | Licastro F Campbell I L Kincaid C | 1999 | American Journal of Pathology1999，155，： | 1 |
| 10 | Tumor necrosis fac- tor-alpha -308A/G polymorphism is associated with age at onset of Alzheimer's disease 显示文摘 | Lio D Annoni G Licastro F | 2006 | Mech Ageing Dev2006，127，6： | 1 |
| 11 | Increased serum α1 - antiehy- motrypsin in patients with probable Alzheimer's disease: an acute phase reactant without the peripheral acute phase response显示文摘 | Licastro F Morini MC Polazzi E | 1995 | J Neu- roimmunol1995，57，12： | 1 |
| 12 | Mitogenic activity and immunological properties of bolesatine, a lectin isolated from the mushroom Boletus satanas Lenz 显示文摘 | Licastro F Morini M C Kretz O etal | 1993 | International Journal of Biochemistry1993，25，5： | 1 |
| 13 | Association between an aneurysm of the anterior inferior cerebellar artery and an arteriovenous malformation fed by the same artery显示文摘 | Vincentelli F Caruso G Licastro G | 1998 | J Neurosurg Sci1998，42，1： | 1 |
| 14 | alpha-1-Antichymotrypsin polymorphism in the gene promoter region affects survival and synapsis loss in Alzheimer’s disease显示文摘 | Licastro F Chiappelli M Thal LJ | 2004 | Arch Gerontol Geriatr Suppl2004，9，： | 1 |
| 15 | Neuroinflammation and the genetics of Alzheimer's disease: the search for a pro-inflammatory phenotype显示文摘 | Franceschi C Valensin S Lescai F Olivieri F Licastro F Grimaldi LM | 2001 | Aging (Milano)2001，13，3： | 1 |
| 16 | Tumornecrosis factor-alpha-308A/G polymorphism is associated with age at onset of Alzheimer's disease显示文摘 | Lio D Annoni G Licastro F | 2006 | Mech Ageing Dev2006，127，： | 1 |
| 17 | Increased cd-antichymotrypsin in patients with probable Alzheimer's disease: an acute phase reactant without the peripheral acute phase response 显示文摘 | LICASTRO F MORINI M C POLAZZI E | 1995 | J Neuroimmunol1995，57，12： | 1 |
| 18 | Mitogenic activity and immunological properties of bolesatine,a lectin isolated from the mushroom Boletus satanas Lenz显示文摘 | Morini MC Kretz O | 1993 | International Journal of Biochemistry1993，25，5： | 1 |
| 19 | A polymorphism of the interleukin-1 beta gene at position + 3953 influences progression and neuro-pathological hallmarks of Alzheimer' s disease 显示文摘 | Licastro F Veglia F Chiappelli M | 2004 | Neurobiol Aging2004，25，： | 1 |
| 20 | Alpha-1- antichymotrypsin and oxidative stress in the peripheral blood from patients with probable Alzheimer disease: a short-term longitudinal study显示文摘 | LICASTRO F PEDRINI S DAVIS L J | 2001 | Alzheimer Dis Assoc Disord2001，15，1： | 1 |
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