Research Explorer

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Project

Integrating clinical data, ultrastructural imaging, and pathophysiology to unravel cutis laxa syndromes

Outputs and Outcomes

Publications

Ocular manifestations in congenital cutis laxa : a case series

Arnaud Van SlyckenAude BeyensBert CallewaertElke O. Kreps

A1 Journal Article in CORNEA

Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms

Yukun HeMarlies VerleyenBert CallewaertArne BurssensEmmanuel Audenaert

A1 Journal Article in CLINICAL GENETICS

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

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Eva VanbelleghemTim Van DammeAude BeyensSofie SymoensKathleen ClaesJulie De BackerIlse MeerschautFloris VanommeslaegheSigurd DelangheJenneke van den EndeTessi BeyltjensEleanor R. ScimoneMark E. LindsayLisa A. SchimmentiAlicia M. HinzeEmily DunnNatalia Gomez-OspinaIsabelle VandernootThomas DelgusteSandra CoppensValerie Cormier-DaireMarco TartagliaLivia GaravelliJoseph ShiehSenol DemirEsra Arslan AtesMartin ZenkerMersedeh RohanizadeganGreysha Rivera-CruzSofia DouzgouJustin SmithJessica SimkinsDon ClarkStephanie KaratsinidesSandy TaylorInes WhitePatti SchultzKate WearsLevi HolderKathy YoungAngela E. LinBert Callewaert[missing] Myhre Syndrome Fdn et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqMatthias Van ImpeDelfien SyxAndy WillaertLisa CaboorPatrick SipsBert Callewaert et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeDelfien SyxAndy WillaertPatrick SipsBert Callewaert et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeDelfien SyxAndy WillaertPatrick SipsBert Callewaert et al.

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

ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Silke De FeyterAude BeyensBert Callewaert

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaLisa CaboorAdelbert De ClercqMatthias Van ImpeAndy WillaertPatrick SipsBert Callewaert et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeAndy WillaertPatrick SipsBert Callewaert et al.

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

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LuetkePiyanoot TapaneeyaphanAdelbert De ClercqPhil SalmonRiet De RyckeAlper GezdiriciElif Yilmaz GulecNaz KhanJill E. UrquhartWilliam G. NewmanKay MetcalfeStephanie EfthymiouReza MaroofianNajwa AnwarShazia MaqboolFatima RahmanIkhlass AltweijriMonerah AlsalehSawsan Mohamed AbdullahMohammad Al-OwainMais HashemHenry HouldenFowzan S. AlkurayaPatrick SipsGerhard SengleBert Callewaert et al.

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Charlotte PickwickBert CallewaertFleur van DijkJuliette HarrisEmma WakelingEleanor HayMildrid YeoAnupam ChakrapaniJulia BaptistaSandra MooreMichael YoongFiona ChatterjeeNeeti Ghali et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Matthias PrzyklenkVeronika S. GeorgievaFabian MetzenSebastian MostertBirgit KobbeBert CallewaertGerhard SengleBent BrachvogelRobert P. MechamMats PaulssonRaimund WagenerManuel KochAlvise Schiavinato et al.

A1 Journal Article in MATRIX BIOLOGY

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia MicaleSilvia MorlinoAnnalucia CarboneAnnamaria CarissimoGrazia NardellaCarmela FuscoOrazio PalumboAnnalisa SchirizziFederica RussoGianluigi MazzoccoliJeroen BreckpotChiara De LucaAlessandro FerrarisCecilia GiuntaPaola GrammaticoMaria K. HaanpääGiorgia MancanoGiulia ForzanoDavide CacchiarelliHilde Van EschBert CallewaertMarianne RohrbachMarco Castori et al.

A1 Journal Article in GENETICS IN MEDICINE

Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa

Pieter RosiersA. DerouxAude BeyensBert CallewaertM.‐T. Leccia

A1 Journal Article in JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Gerarda CappuccioNicola Brunetti‐PierriPaul CliftChristopher LearnJohn C. DykesCatherine L. MercerBert CallewaertIlse MeerschautAlessandro Mauro SpinelliIrene BrunoMatthew J. GillespieAaron T. DorfmanAdda GrimbergMark E. LindsayAngela E. Lin et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Alice LepelleyErika Della MinaErika Van NieuwenhoveLise WaumansSylvie FraitagGillian I. RiceAshish DhirMarie-Louise FremondMathieu P. RoderoLuis SeabraEdwin CarterChristine BodemerDaniela BuhasBert CallewaertPascale de LonlayLien De SomerDavid A. DymentFranny FaesLucy GroveSimon HoldenMarie HullyManju A. KurianHugh J. McMillanKristin SuetensHenna TyynismaaStephanie ChhunTimothy WaiCarine WoutersBrigitte Bader-MeunierYanick J. Crow et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Lore PottieChristin S. AdamoAude BeyensSteffen LutkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz GulecNaz KhanJill E. UrquhartWilliam G. NewmanKay MetcalfeStephanie EfthymiouReza MaroofianNajwa AnwarShazia MaqboolFatima RahmanIkhlass AltweijriMonerah AlsalehSawsan Mohamed AbdullahMohammad Al-OwainMais HashemHenry HouldenFowzan S. AlkurayaPatrick SipsGerhard SengleBert Callewaert et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Lore PottieWouter Van GoolMichiel VanhooydonckFranz-Georg HanischGeert GoeminneAndreja RajkovicPaul CouckePatrick SipsBert Callewaert

A1 Journal Article in PLOS GENETICS

Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Maxim VerleeAude BeyensAlper GezdiriciElif GulecLore PottieSilke De FeyterMichiel VanhooydonckPiyanoot TapaneeyaphanSofie SymoensBert Callewaert

A1 Journal Article in GENES

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LütkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz GulecNaz KhanJill E. UrquhartWilliam G. NewmanKay MetcalfeStephanie EfthymiouReza MaroofianNajwa AnwarShazia MaqboolFatima RahmanIkhlass AltweijriMonerah AlsalehSawsan Mohamed AbdullahMohammad Al-OwainMais HashemHenry HouldenFowzan S. AlkurayaPatrick SipsGerhard SengleBert Callewaert et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzieKym MinaBert CallewaertAude BeyensJan E. DickinsonGareth JevonJohn PapadimitriouBirgitte Rode DinessJesper Norman SteensbergJakob EkGareth Baynam et al.

A1 Journal Article in CLINICAL GENETICS

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

Lack of resemblance between Myhre syndrome and other 'segmental progeroid' syndromes warrants restraint in applying this classification

Angela E. LinNicola Brunetti-PierriBert CallewaertValerie Cormier-DaireSofia DouzgouT. Bernard KinaneMark E. LindsayLois J. Starr

A1 Journal Article in GEROSCIENCE

IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?

Diego LopergoloFlavia PriviteraGiuseppe CastelloCaterina Lo RizzoMaria Antonietta MencarelliAnna Maria PintoFrancesca ArianiAurora CurròVittoria LamacchiaRoberto CanitanoElisabetta VaghiAlessandra FerrariniGerardo Mejia BaltodanoDamien LedererLionel Van MaldergemMercedes SerranoMercè PinedaMaria Del Carmen Fons‐EstupinaHilde Van EschJeroen BreckpotCandy KumpsBert CallewaertSabrina MuellerGian Paolo RamelliJudith ArmstrongAlessandra RenieriFrancesca Mari et al.

A1 Journal Article in CLINICAL GENETICS

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude BeyensC. AdamoE. Yilmaz GulecA. GezdiriciP. BonaldoH. BornaunE. BrauchleJ. BrinckmannW. P. DevineB. GangaramT. SasakiK. SchenkelaylandSofie SymoensA. TamG. SengleBert Callewaert et al.

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J. LefeberDelfien SyxWouter SteyaertRiet De RyckeAlexander HoischenErik-Jan KamsteegSunnie Y. WongMonique van ScherpenzeelPayman JamaliUlrich BrandtLeo NijtmansG. Christoph KorenkeBrian H. Y. ChungChristopher C. Y. MakIngrid HausserUwe KornakBjorn Fischer-ZirnsakTim M. StromThomas MeitingerYasemin AlanayGulen E. UtineKai Ching Peter LeungSiavash Ghaderi-SohiPaul CouckeSofie SymoensAnne De PaepeChristian ThielTobias B. HaackFransiska MalfaitEva MoravaBert CallewaertRon A. Wevers et al.