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GenomicsNext Generation Mendelian Genetics: Ehlers-Danlos Syndrome Type VIII

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Ehlers-Danlos syndrome Type VIII is a dominantly inherited connective tissue disorder that is distinguished from other forms of EDS by significant early-onset p...

phs000540.v1.p1 | EGA
UnknownOral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.
Not available
S-EPMC9796896 | biostudies-literature
UnknownPsychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review.
Not available
S-EPMC10472575 | biostudies-literature
ProteomicsClinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
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
Ngs Lc/ms/ms Tenascin-x Classical-like ehlers–danlos syndrome 
ProteomicsProteomic Discoveries in hypermobile Ehlers Danlos Syndrome (hEDS) Reveals Insights into Disease Pathophysiology
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
Ehlers danlos syndrome (heds) Dia Serum Elisa 
GenomicsComparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome
PRJNA807151 | ENA
ProteomicsGlycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6-deficient spondylodysplastic Ehlers-Danlos syndrome
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
Liquid chromatography Ehlers-danlos syndrome Tandem mass spectrometry Glycoproteomics Linkeropathies Β3galt6 Glycopeptides Bikunin Glycosaminoglycan linkage region 
UnknownNext-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.
Not available
S-EPMC5088665 | biostudies-literature
UnknownHOPE for Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD)-A Pilot Randomised Controlled Trial of Feasibility, Acceptability and Appropriateness.
Not available
S-EPMC12038781 | biostudies-literature
GenomicsCIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
CIDR-NIA Whole Exome Analysis of Ehlers-Danlos Syndrome
PRJNA517979 | ENA
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