D. Syx

发表

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model.

M. Bertrand, B. Lambrecht, Y. Ishikawa, 2018, Matrix biology : journal of the International Society for Matrix Biology.

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

I. Casteels, E. Baere, F. Coppieters, 2014, Genetics in Medicine.

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia.

A. De Paepe, S. Leikin, G. Gillessen‐kaesbach, 2015, American journal of human genetics.

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

J. Hellemans, A. Verloes, A. Willaert, 2010, Human Genetics.

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

S. Nampoothiri, M. Bonduelle, B. Tinkle, 2021, Human mutation.

Exploring pain mechanisms in hypermobile Ehlers‐Danlos syndrome: A case–control study

M. Meeus, J. Van Oosterwijck, P. Calders, 2022, European journal of pain.

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

S. Nampoothiri, M. Bonduelle, B. Tinkle, 2020, Human mutation.

Microarray Analyses of the Dorsal Root Ganglia Support a Role for Innate Neuro-Immune Pathways in Persistent Pain in Experimental Osteoarthritis.

A. Valdes, Richard J. Miller, A. Malfait, 2020, Osteoarthritis and cartilage.

Animal Models of Ehlers–Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential

A. Malfait, F. Malfait, Rachel E. Miller, 2021, Frontiers in Genetics.

Genetics of the Ehlers–Danlos syndrome: more than collagen disorders

A. De Paepe, P. Coucke, F. Malfait, 2015 .

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome

I. De Wandele, F. Malfait, S. Symoens, 2021, Human mutation.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

Collagens in the Physiopathology of the Ehlers–Danlos Syndromes

F. Malfait, D. Syx, M. Colman, 2021 .

RIN2 syndrome: Expanding the clinical phenotype

L. Garavelli, B. Callewaert, M. Pollazzon, 2016, American journal of medical genetics. Part A.

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

A. De Paepe, B. Callewaert, P. Coucke, 2012, Human mutation.

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

H. Kayserili, A. De Paepe, P. Coucke, 2019, Human molecular genetics.

The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism

F. Malfait, D. Syx, Tim Van Damme, 2022, Genes.

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

K. Devriendt, M. Thiry, A. De Paepe, 2016, Genetics in Medicine.

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

A. De Paepe, W. Steyaert, P. Coucke, 2015, Disease markers.

NRF2 shortage in human skin fibroblasts dysregulates matrisome gene expression and affects collagen fibrillogenesis

M. Malbouyres, N. Tissot, Catherine Cerutti, 2022, Journal of Investigative Dermatology.

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms

S. Nampoothiri, A. Kariminejad, F. Malfait, 2022, Human mutation.

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

G. Mortier, P. Byers, J. Zonana, 2021, Genetics in Medicine.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers–Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

A. Destrée, R. De Rycke, N. Goemans, 2019, Genetics in Medicine.

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

A. De Paepe, R. De Rycke, N. Voermans, 2019, Human molecular genetics.

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

A. De Paepe, P. Vlummens, F. Malfait, 2011, PloS one.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

J. Morton, M. Suri, M. Del Campo, 2015, Human mutation.

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

S. Ricard-Blum, A. De Paepe, P. Coucke, 2011, The Biochemical journal.

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation

M. Meeus, J. Van Oosterwijck, I. De Wandele, 2023, medRxiv.

The matrisome of the murine and human dorsal root ganglion: a transcriptomal approach

A. Malfait, F. Malfait, D. Ren, 2022, bioRxiv.

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

J. Casanova, S. Boughorbel, S. Tangye, 2019, Science Immunology.

Peripheral Mechanisms Contributing to Osteoarthritis Pain

A. Malfait, Rachel E. Miller, P. Tran, 2018, Current Rheumatology Reports.

Compound heterozygous mutations of the TNXB gene cause primary myopathy

P. Beurrier, A. Paepe, F. Malfait, 2014, Neuromuscular Disorders.

Musculocontractural Ehlers‐Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene

S. Nampoothiri, A. De Paepe, P. Vlummens, 2010, Human mutation.

Glycosaminoglycan linkage region of urinary bikunin as a potentially useful biomarker for β3GalT6‐deficient spondylodysplastic Ehlers–Danlos syndrome

G. Larson, Mahnaz Nikpour, J. Nilsson, 2022, JIMD reports.

b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region

G. Larson, P. Coucke, A. Willaert, 2020, bioRxiv.

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

P. Coucke, A. Willaert, F. Malfait, 2019, Matrix biology : journal of the International Society for Matrix Biology.

1 b 3 galt 6 knock-out zebrafish recapitulate β 3 GalT 6-deficiency disorders in 1 human and reveal a trisaccharide proteoglycan linkage region 2

G. Larson, P. Coucke, A. Willaert, 2020 .

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Loss of TANGO1 Leads to Absence of Bone Mineralization

S. Nampoothiri, F. Malfait, S. Symoens, 2020, JBMR plus.

Pain in the Ehlers–Danlos syndromes: Mechanisms, models, and challenges

L. Rombaut, A. Malfait, F. Malfait, 2021, American journal of medical genetics. Part C, Seminars in medical genetics.

The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

R. Vandenbroucke, F. Coppieters, J. de Zaeytijd, 2019, Human mutation.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

L. Rombaut, F. Malfait, D. Syx, 2017, Clinical and experimental rheumatology.

Compound heterozygous mutations of the TNXB gene cause primary myopathy

J. Schalkwijk, P. Marcorelles, F. Dubas, 2013, Neuromuscular Disorders.

Sensory profiling in classical Ehlers-Danlos syndrome: a case-control study revealing pain characteristics, somatosensory changes, and impaired pain modulation.

M. Meeus, J. Van Oosterwijck, L. Rombaut, 2023, The journal of pain.

Pain-related behaviors and abnormal cutaneous innervation in a murine model of classical Ehlers-Danlos syndrome.

Richard J. Miller, A. Malfait, F. Malfait, 2020, Pain.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

A. De Paepe, M. Whiteford, P. Coucke, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

U. Baumann, Y. Ishikawa, S. Nampoothiri, 2021, PLoS genetics.

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

O. Migita, C. Tifft, W. Gahl, 2021, Journal of Medical Genetics.

Delineation of musculocontractural Ehlers–Danlos Syndrome caused by dermatan sulfate epimerase deficiency

N. Matsumoto, N. Miyake, C. Lautrup, 2020, Molecular genetics & genomic medicine.

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

F. van Nieuwerburgh, P. Coucke, A. Willaert, 2023, Human Genetics.

Analysis of matrisome expression patterns in murine and human dorsal root ganglia

A. Malfait, F. Malfait, D. Ren, 2023, Frontiers in molecular neuroscience.

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review

S. Nampoothiri, E. Steichen‐Gersdorf, F. Laccone, 2019, Orphanet Journal of Rare Diseases.

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos Syndromes.

G. Larson, S. Fournel‐Gigleux, F. Malfait, 2022, American journal of physiology. Cell physiology.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.

a including phenotype with abnormal anchoring and

A. Kariminejad, S. Zeinali, H. Vahidnezhad, 2018 .

Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.

M. Biggiogera, P. Coucke, A. Willaert, 2023, Matrix biology : journal of the International Society for Matrix Biology.

Pathogenic mechanisms in genetically defined Ehlers-Danlos syndromes.

F. Malfait, D. Syx, 2024, Trends in molecular medicine.