Research Explorer

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Project

An integrated translational platform to improve the management and outcome of rare heritable connective tissue disease

Outputs and Outcomes

Publications

Reduced capsaicin-induced mechanical allodynia and neuronal responses in the dorsal root ganglion in the presence of protein tyrosine phosphatase non-receptor type 6 overexpression

Robin VromanShingo IshiharaSpencer FullamMatthew J WoodNatalie S AdamczykNolan LomeliFransiska MalfaitAnne-Marie MalfaitRachel E MillerAdrienn Markovics

A1 Journal Article in MOLECULAR PAIN

From corrosion casting to virtual dissection : contrast‐enhanced vascular imaging using hafnium oxide nanocrystals

Eline GoossensLoren DeblockLisa CaboorDietger Van den EyndenIván JosipovicPablo Reyes IsaacuraElizaveta MaksimovaMatthias Van ImpeAnne BonninPatrick SegersPieter CornillieMatthieu BooneIsabel Van DriesscheWard De SpiegelaereJonathan De RooPatrick SipsKlaartje De Buysser et al.

A1 Journal Article in SMALL METHODS

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

Application of an automated analysis framework for pulsed-wave Doppler cardiac ultrasound measurements to generate reference data in adult zebrafish

Matthias Van ImpeLisa CaboorViolette DeleeuwKaro De RyckeMichiel VanhooydonckJulie De BackerPatrick SegersPatrick Sips

A1 Journal Article in AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

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. MillerAnne-Marie MalfaitFransiska MalfaitRachel E. MillerDelfien Syx 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. ByersToon RosseelPaul CouckeBettina BlaumeiserDelfien SyxFransiska MalfaitSofie Symoens et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Unraveling the role of TGFβ signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models

Violette DeleeuwEric CarlsonMarjolijn RenardKeith D. ZientekPhillip A. WilmarthAshok P. ReddyElise C. ManaloSara F. TufaDouglas R. KeeneMargie OlbinadoMarco StampanoniSachiko KankiHiromi YanagisawaLaura Muiño MosqueraPatrick SipsJulie De BackerLynn Y. Sakai et al.

A1 Journal Article in MATRIX BIOLOGY

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude BeyensCharlotte LietaerKathleen ClaesElfride De BaereMarleen GoeteynBob LerutHannes SyrynOlivier VanakkerJoni Van der MeulenLieve VanwalleghemBert Callewaert et al.

A1 Journal Article in CLINICAL GENETICS

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van GilsJustin DepauwPaul CouckeShari AertsShana VerschuereLukas NolletOlivier Vanakker

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

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 RajaFransiska MalfaitPaul CouckeAdelbert De ClercqAndy Willaert et al.

A1 Journal Article in HUMAN GENETICS

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. AdamoAude BeyensAlvise SchiavinatoDouglas R. KeeneSara F. TufaMatthias MorgelinJurgen BrinckmannTakako SasakiAnja NiehoffMaren DreinerLore PottieLaura MuinoElif Yilmaz GulecAlper GezdiriciPaola BraghettaPaolo BonaldoRaimund WagenerMats PaulssonHelen BornaunRiet De RyckeMichiel De BruyneFemke BaekeWalter P. DevineBalram GangaramAllison TamMeena BalasubramanianSian EllardSandra MooreSofie SymoensJoseph ShenStacey ColeUlrike SchwarzeKathryn W. HolmesSusan J. HayflickWojciech WiszniewskiSheela NampoothiriElaine C. DavisLynn Y. SakaiGerhard SengleBert Callewaert et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Compression fractures and partial phenotype rescue with a low phosphorus diet in the chihuahua zebrafish osteogenesis imperfecta model

Silvia CottiAnn HuysseuneDaria LarionovaWolfgang KoppeAntonella ForlinoPaul Eckhard Witten

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

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 VandersteenAndrea RideoutAnne LegrandMichael FrankTristan MiraultAlessandro FerrarisNiccolò Di GiosaffattePaola GrammaticoJuergen GrunertCharissa FrankSofie SymoensDelfien SyxFransiska Malfait et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Editorial : molecular mechanisms of heritable connective tissue disorders

Fransiska MalfaitAntonella ForlinoGerhard SengleTom Van Agtmael

Editorial material

Compression fractures and partial phenotype rescue with a low phosphorus diet in the chihuahua zebrafish osteogenesis imperfecta model

Silvia CottiAnn HuysseuneDaria LarionovaWolfgang KoppeAntonella ForlinoPaul Eckhard Witten

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

Minocycline counteracts ectopic calcification in a murine model of pseudoxanthoma elasticum : a proof-of-concept study

Elise BouderliqueLukas NolletEmmanuel LetavernierOlivier Vanakker

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Four decades in the making : collagen III and mechanisms of vascular Ehlers Danlos Syndrome

Ramla OmarFransiska MalfaitTom Van Agtmael

A2 Journal Article in MATRIX BIOLOGY PLUS