Research Topics
Genomes and Genes | Marco RitelliSummaryAffiliation: University of Brescia Country: Italy Publications
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Detail Information
Publications
Arterial tortuosity syndrome in two Italian paediatric patientsMarco Ritelli
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
Orphanet J Rare Dis 4:20. 2009..So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients. Here we present the clinical and molecular characterization of two novel Italian paediatric ATS patients...
Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutationsBruno Drera
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
J Dermatol Sci 64:237-40. 2011
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patientsBruno Drera
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy
Orphanet J Rare Dis 4:24. 2009..LDS is caused by mutations in the transforming growth factor (TGF) beta-receptor I (TGFBR1) and II (TGFBR2) genes. The aim of this study was the clinical and molecular characterization of two LDS patients...
Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblastsNicoletta Zoppi
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, 25123 Brescia, Italy
Biochim Biophys Acta 1820:1576-87. 2012..These defects induce the FN-ECM disarray and the decrease of COLLs and FN receptors, the α2β1 and α5β1 integrins. Purified COLLV and COLLIII restore the COLL-FN-ECMs in both EDS cell strains...
Recurring and generalized visceroptosis in ehlers-danlos syndrome hypermobility typeChiara Dordoni
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
Am J Med Genet A 161:1143-7. 2013..2013 Wiley Periodicals, Inc...
Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerioNicola Chiarelli
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy
Int J Dev Biol 55:229-36. 2011..In later embryonic stages, slc2a10 mRNA was detected in the otic vesicles, hatching gland cells, pectoral fin, posterior tectum and swim bladder. Overall, these results suggest a wide role of slc2a10 during zebrafish development...
The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathwayNicoletta Zoppi
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
Biochim Biophys Acta 1773:747-63. 2007....
