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Objectives: Hypermobile Ehlers-Danlos Syndrome (hEDS) is a prevalent but poorly understood connective tissue disorder lacking molecular diagnostic markers. This study aimed to identify proteomic biomarkers in hEDS to elucidate underlying pathophysiology and support objective diagnostic and therapeut...
ORGANISM(S): Homo sapiens (Human) 
2025-09-29 | PXD062941 | Pride
Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in TNXB. Accurate detection of TNXB variants is challenging because of the presence of the pseudogene TNXA, which can undergo non-allelic homol...
ORGANISM(S): Homo sapiens (Human) 
2023-08-09 | PXD043691 | Pride
CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
To unravel the molecular mechanisms potentially associated with the pathogenesis of the EDS-HT/JHS. Transcriptome-wide expression profiling using the Affymetrix Gene 1.0 ST platform comparing the gene expression patterns of skin fibroblasts of five EDS-HT/JHS patients with those of six healthy indi...
ORGANISM(S): Homo sapiens 
The spondylodysplastic type of Ehlers-Danlos syndromes (spEDS) is caused by genetic defects in the B4GALT7 or B3GALT6 genes both deranging the biosynthesis of the glycosaminoglycan linkage region of chondroitin/dermatan sulfate and heparan sulfate proteoglycans. In this study we have analyzed the li...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD033230 | Pride
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