Associated Papers
Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.
Vulto-van Silfhout AT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Novel rare variation of CCDC40 plays a role in the development of idiopathic scoliosis possibly via dysfunction of cilia motility.
Xu L et al.
The Spine Journal : Official Journal of the North American Spine Society, 2025
Differential Regulation of POC5 by ERα in Human Normal and Scoliotic Cells.
Hassan A et al.
Genes, 2023
Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.
Mathieu H et al.
Genes, 2021
Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions.
Hassan A et al.
Plos One, 2019
Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.
Xu L et al.
Spine, 2018
Genetic Variant of PAX1 Gene Is Functionally Associated With Adolescent Idiopathic Scoliosis in the Chinese Population.
Xu L et al.
Spine, 2018
Understanding Idiopathic Scoliosis: A New Zebrafish School of Thought.
Boswell CW et al.
Trends in Genetics : Tig, 2017
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Patten SA et al.
The Journal of Clinical Investigation, 2015
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