Research Explorer

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Project

Linking extracellular matrix defects and chronic pain: the Ehlers-Danlos syndrome as a disease model

Outputs & Impact

Publications & research data ( 13 )

ADAMTS2 : more than a procollagen N-proteinase

Ruben VanlerbergheAlain ColigeAnne-Marie MalfaitDelfien SyxFransiska Malfait

A1 Journal Article in GENES & DISEASES

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes

Delfien SyxFransiska Malfait

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

Sensory profiling in classical Ehlers-Danlos syndrome : a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

Marlies ColmanDelfien SyxInge De WandeleLies RombautDeborah WilleZoë MalfaitMira MeeusAnne-Marie MalfaitJessica Van OosterwijckFransiska Malfait

A1 Journal Article in JOURNAL OF PAIN

NRF2 shortage in human skin fibroblasts dysregulates matrisome gene expression and affects collagen fibrillogenesis

Mélanie SalamitoBenjamin GilletDelfien SyxElisabeth VaganayMarilyne MalbouyresCatherine CeruttiNicolas TissotChloé Exbrayat-HéritierPhilippe PerezChristophe Jones et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Analysis of matrisome expression patterns in murine and human dorsal root ganglia

Robin VromanRahel S. HunterMatthew J. WoodOlivia C. DavisZoë MalfaitDale S. GeorgeDongjun RenDiana Tavares-FerreiraTheodore J. PriceRichard J. Miller et al.

A1 Journal Article in FRONTIERS IN MOLECULAR NEUROSCIENCE

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertRiet De RyckePeter H. Byers et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekDelfien SyxSofie SymoensYannick GansemansFilip Van NieuwerburghSujatha JagadeeshJayarekha Raja et al.

A1 Journal Article in HUMAN GENETICS

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitSofie SymoensBiruté BurnytéSheela NampoothiriAriana KariminejadFransiska MalfaitDelfien Syx

A1 Journal Article in HUMAN MUTATION

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

Mahnaz NikpourFredrik NobornJonas NilssonTim Van DammeOlivier KayeDelfien SyxFransiska MalfaitGöran Larson

A2 Journal Article in JIMD REPORTS

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports

Marlies ColmanMarco CastoriLucia MicaleMarco RitelliMarina ColombiNeeti GhaliFleur Van DijkLuisa MarsiliAdrienne WeeksAnthony Vandersteen et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Exploring pain mechanisms in hypermobile Ehlers-Danlos syndrome : a case-control study

Inge De WandeleMarlies ColmanLinda HermansJessica Van OosterwijckMira MeeusLies RombautGRIET BRUSSELMANSDelfien SyxPatrick CaldersFransiska Malfait

A1 Journal Article in EUROPEAN JOURNAL OF PAIN

The Ehlers–Danlos syndromes against the backdrop of inborn errors of metabolism

Tim Van DammeMarlies ColmanDelfien SyxFransiska Malfait

A1 Journal Article in GENES

Collagens in the physiopathology of the Ehlers–Danlos Syndromes

Fransiska MalfaitRobin VromanMarlies ColmanDelfien Syx

Bookchapter in The collagen superfamily and collagenopathies

Activities ( 0 )

Results

Impact narratives ( 0 )

Patents ( 0 )