Functional variants of POC5 identified in patients with idiopathic scoliosis.

doi:10.1172/JCI77262

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Functional variants of POC5 identified in patients with idiopathic scoliosis.

The Journal of clinical investigation - 2 Mar 2015

Patten Shunmoogum A, Margaritte-Jeannin Patricia, Bernard Jean-Claude, Alix Eudeline, Labalme Audrey, Besson Alicia, Girard Simon L, Fendri Khaled, Fraisse Nicolas, Biot Bernard, Poizat Coline, Campan-Fournier Amandine, Abelin-Genevois Kariman, Cunin Vincent, Zaouter Charlotte, Liao Meijiang, Lamy Raphaelle, Lesca Gaetan, Menassa Rita, Marcaillou Charles, Letexier Melanie, Sanlaville Damien, Berard Jerome, Rouleau Guy A, Clerget-Darpoux Françoise, Drapeau Pierre, Moldovan Florina, Edery Patrick

Abstract excerpt

Idiopathic scoliosis (IS) is a spine deformity that affects approximately 3% of the population. The underlying causes of IS are not well understood, although there is clear evidence that there is a genetic component to the disease. Genetic mapping studies suggest high genetic heterogeneity, but no IS disease-causing gene has yet been identified. Here, genetic linkage analyses combined with exome sequencing...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Association Studies

Share to Linkage Disequilibrium

Share to Mutation, Missense

Share to Pedigree

Share to Scoliosis

Share to Zebrafish

Source

Open in PubMed Open full text

Identifiers

PMID: 25642776
DOI: 10.1172/JCI77262
PMCID: PMC4362221

Genes

POC5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional variants of POC5 identified in patients with idiopathic scoliosis.PMID 25642776Read ↗

Prevalence of POC5 Coding Variants in French-Canadian and British AIS Cohort.Semantic proximity Read ↗

Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis.Semantic proximity Read ↗

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactionsSemantic proximity Read ↗

Ciliary and Osteogenic Defects as Central Drivers of AIS in POC5 Mutation Models.Semantic proximity Read ↗

The Mutational Landscape of PTK7 in Congenital Scoliosis and Adolescent Idiopathic Scoliosis.Semantic proximity Read ↗

Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family.Semantic proximity Read ↗

Whole Genome Sequencing in Adolescent Idiopathic Scoliosis Cohort Indicates Polygenic Disease Involving Multiple Biological PathwaysSemantic proximity Read ↗

Whole genome sequencing in adolescent idiopathic scoliosis cohort implicates multiple biological pathwaysSemantic proximity Read ↗

Genetics and pathogenesis of idiopathic scoliosisSemantic proximity Read ↗

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS).Semantic proximity Read ↗

AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis.Semantic proximity Read ↗

Identification of novel FBN1 variations implicated in congenital scoliosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.