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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
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 
TranscriptomicsClassical Hodgkin lymphoma shows epigenetic features of an abortive plasma cellular differentiation: expression of A/T-treated vs. untreated B-cell lines
Background Epigenetic changes are involved in the extinction of the B-cell gene expression program of classical Hodgkin lymphoma. However, little is known regarding epigenetic similarities between classical Hodgkin lymphoma and plasma cell myeloma cells, both of which share an extinction of the gene...
ORGANISM(S): Homo sapiens 
2011-05-05 | E-GEOD-21252 | biostudies-arrayexpress
TranscriptomicsPAX5 overexpression is not enough to reestablish the mature B-cell phenotype in classical Hodgkin lymphoma
In lymphomas derived from mature B cells the expression of the transcription factor PAX5 is maintained whereas classical Hodgkin lymphoma displays significantly reduced PAX5 expression despite its derivation from mature B cells. To elucidate the functional role of PAX5 in classical Hodgkin lymphoma,...
ORGANISM(S): Homo sapiens 
2013-07-30 | E-GEOD-44244 | biostudies-arrayexpress
TranscriptomicsClassical Hodgkin lymphoma shows epigenetic features of an abortive plasma cellular differentiation: expression of Hodgkin vs. B-cell lines
Background Epigenetic changes are involved in the extinction of the B-cell gene expression program of classical Hodgkin lymphoma. However, little is known regarding epigenetic similarities between classical Hodgkin lymphoma and plasma cell myeloma cells, both of which share an extinction of the gene...
ORGANISM(S): Homo sapiens 
2011-05-05 | E-GEOD-21251 | biostudies-arrayexpress
TranscriptomicsClassical Hodgkin lymphoma shows epigenetic features of an abortive plasma cellular differentiation: expression of PCM vs. B-cell lines
Background Epigenetic changes are involved in the extinction of the B-cell gene expression program of classical Hodgkin lymphoma. However, little is known regarding epigenetic similarities between classical Hodgkin lymphoma and plasma cell myeloma cells, both of which share an extinction of the gene...
ORGANISM(S): Homo sapiens 
2011-05-05 | E-GEOD-28079 | biostudies-arrayexpress
TranscriptomicsDeep sequencing of MYC DNA-binding sites in Burkitt's lymphoma
Background: MYC is a transcription factor encoded by the c-MYC gene (thereafter termed MYC). MYC is key transcription factor involved in many central cellular processes including ribosomal biogenesis. MYC is overexpressed in the majority of human tumours including aggressive B-cell lymphoma especial...
ORGANISM(S): Homo sapiens 
2011-11-28 | E-GEOD-30726 | biostudies-arrayexpress
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
UnknownProteomic discoveries in hypermobile Ehlers-Danlos syndrome reveal insights into disease pathophysiology.
Not available
S-EPMC12448790 | biostudies-literature
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 
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