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Article

Ciliary and Osteogenic Defects as Central Drivers of AIS in POC5 Mutation Models.

Studies in health technology and informatics - 15 Jun 2026

Behzadi Pardis, Hassan Amani, Mathieu Hélène, Patten Kessen, Parent Stefan, Moldovan Florina

Abstract excerpt

Adolescent idiopathic scoliosis (AIS) is a multifactorial spinal deformity with poorly understood molecular mechanisms. This study investigates the role of the centrosomal protein POC5 in AIS pathogenesis using in vitro cellular systems and in vivo vertebrate models. POC5 mutations were found to disrupt centrosomal localization, impair ciliogenesis, alter cell-cycle progression, and reduce osteogenic...

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Identifiers

PMID: 42290415
DOI: 10.3233/SHTI260738

Genes

POC5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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