Update on the pathogenesis and genetics of Paget's disease of bone.

Paget’s disease of bone environmental factors genetics osteoclast (OCs) viral inclusion

Journal

Frontiers in cell and developmental biology
ISSN: 2296-634X
Titre abrégé: Front Cell Dev Biol
Pays: Switzerland
ID NLM: 101630250

Informations de publication

Date de publication:
2022
Historique:
received: 29 04 2022
accepted: 25 07 2022
entrez: 29 8 2022
pubmed: 30 8 2022
medline: 30 8 2022
Statut: epublish

Résumé

Studies over the past two decades have led to major advances in the pathogenesis of Paget's disease of bone (PDB) and particularly on the role of genetic factors. Germline mutations of different genes have been identified, as a possible cause of this disorder, and most of the underlying pathways are implicated in the regulation of osteoclast differentiation and function, whereas other are involved in cell autophagy mechanisms. In particular, about 30 different germline mutations of the

Identifiants

pubmed: 36035996
doi: 10.3389/fcell.2022.932065
pii: 932065
pmc: PMC9412102
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

932065

Informations de copyright

Copyright © 2022 Gennari, Rendina, Merlotti, Cavati, Mingiano, Cosso, Materozzi, Pirrotta, Abate, Calabrese and Falchetti.

Déclaration de conflit d'intérêts

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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Auteurs

Luigi Gennari (L)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.

Domenico Rendina (D)

Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy.

Daniela Merlotti (D)

Department of Medical Sciences, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Guido Cavati (G)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.

Christian Mingiano (C)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.

Roberta Cosso (R)

Unit of Rehabilitation Medicine, San Giuseppe Hospital, Istituto Auxologico Italiano, Piancavallo, Italy.

Maria Materozzi (M)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.
Age Related Diseases Unit, Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milano, Italy.

Filippo Pirrotta (F)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.

Veronica Abate (V)

Department of Clinical Medicine and Surgery, Federico II University, Naples, Italy.

Marco Calabrese (M)

Department of Medicine Surgery and Neurosciences, University of Siena Italy, Siena, Italy.

Alberto Falchetti (A)

Experimental Research Laboratory on Bone Metabolism, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Auxologico Italiano, Milano, Italy.

Classifications MeSH