Research Explorer

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Project

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

Outputs & Impact

Publications & research data ( 32 )

Loss of the ubiquitin-associated domain of sqstm1/p62 in zebrafish causes a phenotype resembling Paget’s disease of bone

Yentl HuybrechtsRaphaël De RidderDylan BergenBjörn De SamberEveline BoudinFrancesca TonelliDries KnapenLucia VergauwenDorien SchepersEvelien Van Dijck et al.

A1 Journal Article in CALCIFIED TISSUE INTERNATIONAL

Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxPatrick SipsPaul CouckeAndy WillaertBert Callewaert

A1 Journal Article in BMC MEDICAL GENOMICS

ADAMTS2 : more than a procollagen N-proteinase

Ruben VanlerbergheAlain ColigeAnne-Marie MalfaitDelfien SyxFransiska Malfait

A1 Journal Article in GENES & DISEASES

Autosomal dominant transmission reframes reproductive counseling in Myhre syndrome : a novel family and literature review

Maggie R. BrandEva VanbelleghemAlison C. KayAnne GorielySenol DemirPeter J. HulickBreanne PrindevilleAshley W. WongBert CallewaertAngela E. Lin

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim VerleeErika D'haenensLaurenz De CockLaura Muiño MosqueraKatya De GrooteKristof VandekerckhoveJoseph PanzerEllen RoetsBjörn MentenSofie Symoens et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelAndy WillaertBert CallewaertKathleen Claes

A1 Journal Article in LAB ANIMAL

Modeling thoracic aortic genetic variants in the zebrafish : useful for predicting clinical pathogenicity?

Andrew PrendergastMary B. SheppardJakub K. FamulskiStefania NicoliSandip MukherjeePatrick SipsJohn A. Elefteriades

A1 Journal Article in FRONTIERS IN CARDIOVASCULAR MEDICINE

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Lisa DangreauMohammad Jakir HosenJulie De ZaeytijdBart LeroyPaul CouckeOlivier Vanakker

A1 Journal Article in CURRENT ISSUES IN MOLECULAR BIOLOGY

Rapidly progressive peripheral artery disease : importance of oligogenic inheritance and functional validation

Lisa DangreauYvonne NitschkeFrank RutschOlivier Vanakker

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

A. DrackleyC. SomervilleP. ArnaudL. M. BaudhuinN. HannaM. L. KlugeK. KotzerC. BoileauL. BronickiBert Callewaert et al.

A1 Journal Article in GENOME MEDICINE

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes

Delfien SyxFransiska Malfait

A1 Journal Article in TRENDS IN MOLECULAR MEDICINE

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara JaraysehSophie DebaenstHanna De SaffelToon RosseelMauro Alessio MilazzoJan Willem BekDavid M HudsonFilip Van NieuwerburghYannick GansemansIván Josipovic et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms

Marlies VerleyenYukun HeArne BurssensMarta Guerreiro Santana Ramos Da SilvaBert CallewaertEmmanuel Audenaert

A1 Journal Article in OSTEOARTHRITIS AND CARTILAGE

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 Segers 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. 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

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 Olbinado 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 Vanwalleghem 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 Raja et al.

A1 Journal Article in HUMAN GENETICS

The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

A1 Journal Article in FRONTIERS IN PHARMACOLOGY

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 Dreiner 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 Vandersteen 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

Activities ( 0 )

Results

Impact narratives ( 0 )

Patents ( 0 )