Delfien Syx

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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.

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.

Hypermobility, the Ehlers-Danlos syndromes and chronic pain.

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

Collagens in the Physiopathology of the Ehlers–Danlos Syndromes

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

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.

Loss of TANGO1 Leads to Absence of Bone Mineralization

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

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.

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 .

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.

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.

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

A. Hoischen, T. Meitinger, T. Strom, 2017, 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.

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.

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.

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

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

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.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

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

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.

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 .

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.

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

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

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.

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.

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.

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.

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.

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

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

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.

Compound heterozygous mutations of the TNXB gene cause primary myopathy

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

Compound heterozygous mutations of the TNXB gene cause primary myopathy

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

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.

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.

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.

Peripheral Mechanisms Contributing to Osteoarthritis Pain

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

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.

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.

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

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

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.

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.

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.