Research Explorer

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Project

From Variome to Phenome - an integrated approach towards understanding and treating heritable connective tissue disorders

Outputs and Outcomes

Publications

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

Understanding the phase transition mechanism in the lead halide perovskite CsPbBr3 via theoretical and experimental GIWAXS and Raman spectroscopy

Alexander HoffmanRafikul Ali SahaSander BorgmansPascal PuechTom BraeckeveltMaarten B. J. RoeffaersJulian A. A. SteeleJohan HofkensVeronique Van Speybroeck

A1 Journal Article in APL MATERIALS

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

The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals

Flora SzeriAgnes MikoNastassia NavasiolavaAmbrus KaposiShana VerschuereBeatrix MolnarQiaoli LiSharon F. TerryFederica BoraldiJouni UittoKoen van de WeteringLudovic MartinDaniela QuaglinoOlivier VanakkerKalman ToryTamas Aranyi et al.

A1 Journal Article in HUMAN MUTATION

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De BackerPaul CouckeOlivier Vanakker et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisThomas MartensKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhoveLara MoonsPetra VermassenSofie SymoensPaul CouckeDaniël De WolfBert Callewaert et al.

A1 Journal Article in GENES

Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Thao T. TranRachel B. KellerBrecht GuillemynMelanie PepinJane E. CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie SymoensPaul CouckePeter WittersElena LevtchenkoHamideh BagherianDeborah A. NickersonMichael J. BamshadJessica X. ChongPeter H. Byers et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Collagens in the physiopathology of the Ehlers–Danlos Syndromes

Fransiska MalfaitRobin VromanMarlies ColmanDelfien Syx

Bookchapter in The collagen superfamily and collagenopathies

Lrp5 mutant and crispant zebrafish faithfully model human osteoporosis, establishing the zebrafish as a platform for CRISPR‐based functional screening of osteoporosis candidate genes

Jan Willem BekChen ShochatAdelbert De ClercqHanna De SaffelAnnekatrien BoelJuriaan MetzFrans RodenburgDavid KarasikAndy WillaertPaul Coucke

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH