A5046311989- Connective tissue disorders research
- Dermatological and Skeletal Disorders
- Cell Adhesion Molecules Research
- Skin and Cellular Biology Research
- Ubiquitin and proteasome pathways
- Dupuytren's Contracture and Treatments
- Wnt/β-catenin signaling in development and cancer
- Cellular Mechanics and Interactions
- Bone health and treatments
- Proteoglycans and glycosaminoglycans research
- Autoimmune Bullous Skin Diseases
- Caveolin-1 and cellular processes
- Protease and Inhibitor Mechanisms
- Vascular Malformations and Hemangiomas
- Corneal Surgery and Treatments
- Corneal surgery and disorders
- Fibroblast Growth Factor Research
- Glaucoma and retinal disorders
- Peptidase Inhibition and Analysis
- Tendon Structure and Treatment
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Kruppel-like factors research
- Pelvic and Acetabular Injuries
- Molecular Biology Techniques and Applications
University of Brescia
2015-2024
Institut thématique Génétique, génomique et bioinformatique
2011
Brescia University
2001-2006
Cornell University
2001
Abstract Background Classic Ehlers–Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated more than 90% of patients who satisfy all these major criteria harbor type V collagen (COLLV) defect. Methods This cohort included 40 with cEDS were clinically diagnosed according to the Villefranche nosology. The flowchart was...
Joint hypermobility syndrome/Ehlers–Danlos syndrome type (JHS/EDS-HT), is likely the most common systemic heritable connective tissue disorder, and mostly recognized by generalized joint hypermobility, instability complications, minor skin changes a wide range of satellite features. JHS/EDS-HT considered an autosomal dominant trait but still without defined molecular basis. The absence (a) causative gene(s) for attributable to marked genetic heterogeneity and/or interaction multiple loci. In...
Dermal fibroblasts derived from types I and IV Ehlers-Danlos syndrome (EDS) patients, carrying mutations in COL5A1 COL3A1 genes, respectively, synthesize aberrant V III collagen (COLL) show defective organization of these proteins into the extracellular matrix (ECM) high reduction their functional receptor, α2β1 integrin, compared with control fibroblasts. EDS cells also reduced levels fibronectin (FN) culture medium lack an FN fibrillar network. Finally, prevalently organize αvβ3 integrin...
The musculocontractural type of Ehlers‐Danlos syndrome (MC‐EDS) has been recently recognized as a clinical entity. MC‐EDS represents differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty‐one three patients have reported with so far bi‐allelic mutations identified in CHST14 DSE , respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional from four unrelated families, including follow‐up...
Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and TGF-β–dependent homeostasis of connective tissues.
Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder caused by loss-of-function mutations in SLC2A10, which encodes facilitative glucose transporter 10 (GLUT10). The role of GLUT10 ATS pathogenesis remains enigma, and the transported metabolite(s), i.e. and/or dehydroascorbic acid, have not been clearly elucidated. To discern molecular mechanisms underlying aetiology, we performed gene expression profiling biochemical studies on skin fibroblasts....
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which major expressed blood vessels and hollow organs. The majority of disease-causing variants are glycine substitutions in-frame splice triple helix domain through dominant negative effect associated with severe clinical spectrum potentially lethal vEDS, characterized fragility soft tissues arterial organ ruptures. To...
The 2017 classification of Ehlers-Danlos syndromes (EDS) identifies three types associated with causative variants in COL1A1/COL1A2 and distinct from osteogenesis imperfecta (OI). Previously, patients have been described variable features both disorders, COL1A1/COL1A2; but this phenotype has not included the current classification. Here, we expand re-define OI/EDS overlap as a missing EDS type. Twenty-one individuals 13 families were reported, whom found after suspicion EDS. None them could...
Itch is thought to represent the peculiar response stimuli conveyed by somatosensory pathways shared with pain through activation of specific neurons and receptors. It can occur in association dermatological, systemic neurological diseases, or be side effect certain drugs. However, some patients suffer from chronic idiopathic itch that frequently ascribed psychological distress for which no biomarker available date. We investigated three multigenerational families, one diagnosed joint...
Mutations in B3GALT6, encoding the galactosyltransferase II (GalT-II) involved synthesis of glycosaminoglycan (GAG) linkage region proteoglycans (PGs), have recently been associated with a spectrum connective tissue disorders, including spondyloepimetaphyseal dysplasia joint laxity type 1 (SEMDJL1) and Ehlers-Danlos-like syndrome. Here, we report on two sisters compound heterozygous for novel B3GALT6 mutations that presented severe short stature progressive kyphoscoliosis, hypermobility...
Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, diagnostic flow-chart that prompts molecular testing still based on experts' opinion rather than systematic published data. Here we report 62 molecularly cEDS patients with focus skin, mucosal, facial, articular manifestations. The major minor criteria, additional 11 mucocutaneous signs 15 facial dysmorphic traits were ascertained...
Loss‐of‐function mutations in the gene encoding GLUT10 are responsible for arterial tortuosity syndrome (ATS), a rare connective tissue disorder. In this study GLUT10‐mediated dehydroascorbic acid (DAA) transport was investigated, supposing its involvement pathomechanism. protein produced by vitro translation and incorporated into liposomes efficiently transported DAA. Silencing of decreased DAA immortalized human fibroblasts whose plasma membrane selectively permeabilized. Similarly,...
Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which fibrillar COLL widely distributed variety of tissues. cEDS patients suffer from skin hyperextensibility, abnormal wound healing/atrophic scars, joint hypermobility. Most causative variants result non-functional allele COLLV haploinsufficiency, whilst affect its structural integrity. To shed light into...
Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including and elongation of the major arteries, often associated pulmonary artery stenosis, hypertension, skin joint laxity, suggestive connective tissue disorder. ATS transmitted in an autosomal recessive mode, but causal gene unknown. We report Italian pedigree three inbred families which five patients show signs ATS. In particular, four adult present arterial main arteries. Two these...
Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB‐Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which characterized by severe itching lichenoid or nodular prurigo‐like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, frequently, delayed age onset. We report clinical molecular characterization seven Italian patients, three affected with DEB‐Pr four DEB‐Pr. In all signs were typical...
Abstract Background Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder showing the involvement of cutaneous, cardiovascular, craniofacial, and skeletal systems. In particular, LDS patients show arterial tortuosity with widespread vascular aneurysm dissection, have high risk aortic dissection or rupture at an early age diameters that ordinarily are not predictive these events. Recently, has been subdivided in type I (LDSI) II (LDSII) on basis presence absence cranio-facial...
Arterial tortuosity syndrome (ATS) is an autosomal recessive connective tissue disorder, mainly characterized by and elongation of the large- medium-sized arteries with predisposition to stenoses aneurysms. ATS caused mutations in SLC2A10 gene, encoding for facilitative glucose transporter 10 (GLUT10) described typically pediatric patients. We report on a 51-year-old woman, originally ascertained because unexplained widespread chronic pain positive family history aortic malformation. The...