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Article

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

PloS one - 1 Jan 2016

Chiarelli Nicola, Carini Giulia, Zoppi Nicoletta, Dordoni Chiara, Ritelli Marco, Venturini Marina, Castori Marco, Colombi Marina

Abstract excerpt

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and is mostly recognized by generalized joint hypermobility, joint instability complications, minor skin changes and a wide range of satellite features. JHS/EDS-HT is considered an autosomal dominant trait but is still without a defined molecular basis. The...

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Source

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Identifiers

PMID: 27518164
DOI: 10.1371/journal.pone.0161347
PMCID: PMC4982685

Genes

AQP9
CDH2
CFD
CLDN11
COLEC12
DSP
FLG
GPC4
GSTM5
KCNQ5
MAOB
MMP16
PCDH9
PRLR
SPON2
SULF1
TGM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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