Stefano Quinzani

Molecular characterization and transcriptome-wide expression profiling of two patients affected with spondyloepimetaphyseal dysplasia with joint laxity type

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni et autres

Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

Marco Ritelli, Nicola Chiarelli, Nicoletta Zoppi, Chiara Dordoni et autres

Mutations in B3GALT6 , encoding the galactosyltransferase II (GalT-II) involved in the synthesis of the glycosaminoglycan (GAG) linkage region of proteoglycans (PGs), have recently been associated with a spectrum of connective tissue disorders, including spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) …

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Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Elena Reffo et autres

BACKGROUND: Arterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for aneurysm formation and vascular dissection. During infancy, children frequently present the involvement …

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Further delineation of Loeys-Dietz syndrome type 4 in a family with mild vascular involvement and a TGFB2 splicing mutation

Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Stefano Quinzani et autres

BACKGROUND: The Loeys-Dietz syndrome (LDS) is a rare autosomal dominant disorder characterized by thoracic aortic aneurysm and dissection and widespread systemic connective tissue involvement. LDS type 1 to 4 are caused by mutations in genes of the TGF-β signaling pathway: TGFBR1 and …

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Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing

Marco Ritelli, Nicola Chiarelli, Stefano Quinzani, Chiara Dordoni et autres

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Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9compound heterozygosity

Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli et autres

BACKGROUND: Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis. Loss-of-function mutations in the SLC22A12 gene cause renal hypouricemia type 1 (RHUC1), …

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Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations

Marco Ritelli, Chiara Dordoni, Marina Venturini, Nicola Chiarelli et autres

BACKGROUND: Classic Ehlers-Danlos syndrome (cEDS) is a rare autosomal dominant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. A recent study demonstrated that more than 90% of patients who satisfy all of these …

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Compound heterozygosity of the novel −186C>T mutation in theCOL7A1promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa

Marco Ritelli, Nicola Chiarelli, Stefano Quinzani, Chiara Dordoni et autres

Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis characterised by trauma-induced blister formation beneath the lamina densa in the papillary dermis. Other clinical findings include atrophic scarring, milia formation, fusion of digits, nail dystrophy and contractures. DEB comprises 13 variants with different …

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Bioinformatic and molecular characterization of beta-defensins-like peptides isolated from the green lizard Anolis carolinensis

Luisa Dalla Valle, Francesca Benato, Silvia Maistro, Stefano Quinzani et autres

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