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The Journal of Pain|June 28, 2023
Sensory Profiling in Classical Ehlers-Danlos Syndrome: A Case-Control Study Revealing Pain Characteristics, Somatosensory Changes, and Impaired Pain ModulationMarlies Colman, Delfien Syx, Inge De Wandele, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|June 19, 2023
Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structureValentina Daponte, Francesca Tonelli, Cecilia Masiero, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|February 7, 2015
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis ImperfectaDelfien Syx, Brecht Guillemyn, Sofie Symoens, et al.
The Biochemical Journal|October 29, 2010
Identification of binding partners interacting with the α1-N-propeptide of type V collagenSofie Symoens, Marjolijn Renard, Christelle Bonod-Bidaud, et al.
Plos Genetics|February 1, 2021
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfectaDelfien Syx, Yoshihiro Ishikawa, Jan Gebauer, et al.
Molecular Genetics & Genomic Medicine|March 5, 2020
Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiencyCharlotte K Lautrup, Keng W Teik, Ai Unzaki, et al.
The Journal of Investigative Dermatology|March 15, 2024
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen FibrillogenesisMélanie Salamito, Benjamin Gillet, Delfien Syx, et al.
Frontiers in Cell and Developmental Biology|December 28, 2020
<i>b3galt6</i> Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage RegionSarah Delbaere, Adelbert De Clercq, Shuji Mizumoto, et al.
Human Mutation|February 24, 2015
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesisDelfien Syx, Tim Van Damme, Sofie Symoens, et al.
Human Genetics|January 25, 2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractTamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, et al.
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