Publications by authors named "Marco Ritelli"

78Publications

Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts.

Biochim Biophys Acta Mol Basis Dis 2020 Dec 28;1867(4):166051. Epub 2020 Dec 28.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address:

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December 2020

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa.

Mol Genet Genomic Med 2020 Dec 4:e1562. Epub 2020 Dec 4.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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December 2020

Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency.

Bone 2020 11 6;140:115571. Epub 2020 Aug 6.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy. Electronic address:

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November 2020

Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.

Orphanet J Rare Dis 2020 07 31;15(1):197. Epub 2020 Jul 31.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, I-25123, Brescia, Italy.

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July 2020

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.

Mol Genet Genomic Med 2020 10 28;8(10):e1422. Epub 2020 Jul 28.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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October 2020

Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders.

Genes (Basel) 2020 05 13;11(5). Epub 2020 May 13.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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May 2020

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel Variant.

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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October 2019

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.

Clin Genet 2020 02 3;97(2):287-295. Epub 2019 Nov 3.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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February 2020

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic Variants in Two Patients.

Genes (Basel) 2019 09 27;10(10). Epub 2019 Sep 27.

National Complex Ehlers-Danlos Syndrome Service London, North West Health Care NHS Trust, Harrow HA1 3UJ, UK.

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September 2019

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Genes (Basel) 2019 08 21;10(9). Epub 2019 Aug 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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August 2019

Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes.

Genes (Basel) 2019 08 12;10(8). Epub 2019 Aug 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25121 Brescia, Italy.

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August 2019

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

Eur J Med Genet 2019 Oct 18;62(10):103727. Epub 2019 Jul 18.

Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile "S. Agostino-Estense", Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.

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October 2019

Clinical and molecular characterization of an 18-month-old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review.

Mol Genet Genomic Med 2019 07 21;7(7):e00735. Epub 2019 May 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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July 2019

Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome.

Genes (Basel) 2019 02 12;10(2). Epub 2019 Feb 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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February 2019

Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.

PLoS One 2019 4;14(2):e0211647. Epub 2019 Feb 4.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

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November 2019

Skeletal fragility: an emerging complication of Ehlers-Danlos syndrome.

Endocrine 2019 02 15;63(2):225-230. Epub 2018 Dec 15.

Vita-Salute San Raffaele University, Milano, Italy.

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February 2019

Alcohol intake and the risk of intracerebral hemorrhage in the elderly: The MUCH-Italy.

Neurology 2018 07 13;91(3):e227-e235. Epub 2018 Jun 13.

From U.O. Neurologia (P.C.), Istituto Ospedaliero Poliambulanza, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (A. Pezzini, L.P., V.D.G., F.C., A. Padovani), Clinica Neurologica, Università degli Studi di Brescia; Dipartimento di Scienze del Sistema Nervoso e del Comportamento (M. Grassi), Unità di Statistica Medica e Genomica, Università di Pavia; Laboratorio di Epidemiologia Molecolare e Nutrizionale (L.I., A.D.C., G.d.G.), Dipartimento di Epidemiologia e Prevenzione, IRCCS Istituto Neurologico Mediterraneo, NEUROMED, Pozzilli; S.C. Neurologia (M.Z.), Arcispedale Santa Maria Nuova, IRCCS, Reggio Emilia; Neurologia d'Urgenza and Stroke Unit (S.M.), IRCCS Istituto Clinico Humanitas, Rozzano-Milano; Stroke Unit (G.S.), Dipartimento di Neuroscienze, Ospedale Carlo Poma, Mantova; Unità di Neurologia (M.L.D.), Ospedale di Circolo, Università dell'Insubria, Varese; U.O. Neurologia (M.S.), Istituti Ospedalieri di Cremona, Cremona; Stroke Unit (A.Z.), Clinica Neurologica, Nuovo Ospedale Civile, "S. Agostino Estense," AUSL Modena; Stroke Unit and Divisione di Medicina Cardiovascolare (M.P., G.A.), Università di Perugia; Stroke Unit (C.A., A.D.V.), Divisione di Neurologia, Dipartimento di Neuroscienze e Riabilitazione, Azienda Ospedaliero-Universitaria di Ferrara; Stroke Unit (M. Gamba), Neurologia Vascolare, Spedali Civili di Brescia; Unità di Neurologia (M.D.S.), E.O. Ospedali Galliera, Genova; U.O.C. Neurologia (A.T., N.P.), A.O. Universitaria "San Giovanni di Dio e Ruggi d'Aragona," Salerno; Dipartimento di Neuroscienze (C.G.), Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili, Università di Genova; U.O. Neurologia (D.M.B.), Azienda Ospedaliera "Cà Foncello," Treviso; Stroke Unit (R.T., G.M.), AOU Senese, Siena; Stroke Unit (A. Cavallini, A.M.), IRCCS Fondazione Istituto Neurologico Nazionale "C. Mondino," Pavia; Neurologia (A. Chiti), Azienda Ospedaliero Universitaria Pisana, Pisa; Istituto di Ricovero e Cura a Carattere Scientifico (R.S.C.), Centro Neurolesi Bonino-Pulejo, Messina; Dipartimento di Neuroscienze (F.G.), Scienze Psichiatriche e Anestesiologiche Clinica Neurologica, Università di Messina; USD Stroke Unit (P.B., G.T.), DAI di Neuroscienze, Azienda Ospedaliera Universitaria Integrata Verona; Centro Trombosi (C.L.), IRCCS Istituto Clinico Humanitas, Rozzano-Milano; Divisione di Biologia e Genetica (M.R., M.C.), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia; and Dipartimento di Specialità Medico-Chirurgiche (C.C.), Scienze Radiologiche e Sanità Pubblica, Clinica Neurochirurgica, Università degli Studi di Brescia, Italy.

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July 2018

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Bioinformatics 2018 09;34(17):3038-3040

Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.

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September 2018

Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, 25123 Brescia, Italy.

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March 2018

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

Eur J Hum Genet 2018 04 21;26(4):582-586. Epub 2018 Feb 21.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Brescia, Italy.

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April 2018

Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.

PLoS One 2018 18;13(1):e0191220. Epub 2018 Jan 18.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

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February 2018

Dermal fibroblast-to-myofibroblast transition sustained by αvß3 integrin-ILK-Snail1/Slug signaling is a common feature for hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders.

Biochim Biophys Acta Mol Basis Dis 2018 Apr 5;1864(4 Pt A):1010-1023. Epub 2018 Jan 5.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

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April 2018

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity.

J Dermatol Sci 2018 Feb 22;89(2):201-204. Epub 2017 Nov 22.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Italy. Electronic address:

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February 2018

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Eur J Med Genet 2018 Jan 9;61(1):17-20. Epub 2017 Oct 9.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

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January 2018

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Orphanet J Rare Dis 2017 09 7;12(1):153. Epub 2017 Sep 7.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Viale Europa 11, 25123, Brescia, Italy.

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September 2017

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

J Dermatol Sci 2017 Oct 29;88(1):141-143. Epub 2017 Apr 29.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

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October 2017

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

Am J Med Genet A 2017 Feb 7;173(2):524-530. Epub 2016 Nov 7.

Department of Molecular and Translational Medicine, School of Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy.

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February 2017

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review.

Cytogenet Genome Res 2016 17;150(1):40-45. Epub 2016 Nov 17.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

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January 2017

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.

Am J Med Genet A 2017 Jan 12;173(1):200-206. Epub 2016 Sep 12.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy.

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January 2017

Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type.

PLoS One 2016 12;11(8):e0161347. Epub 2016 Aug 12.

Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Bres6cia, Italy.

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August 2017

Risk Profile of Symptomatic Lacunar Stroke Versus Nonlobar Intracerebral Hemorrhage.

Stroke 2016 08 21;47(8):2141-3. Epub 2016 Jun 21.

From the Dipartimento di Scienze Cliniche e Sperimentali, Clinica Neurologica (A.M., P.C., L.P., V.D.G., A. Padovani, A. Pezzini) and Sezione di Biologia e Genetica, Dipartimento di Medicina Molecolare e Traslazionale (M.R., M.C.), Università degli Studi di Brescia, Brescia, Italy; Stroke Unit, Divisione di Medicina Cardiovascolare, Università di Perugia, Perugia, Italy (M.P., V.C., G.A.); Stroke Unit, Clinica Neurologica, Nuovo Ospedale Civile "S. Agostino Estense", AUSL Modena, Modena, Italy (A.Z., A.M.S., M.L.D.A.); S.C. di Neurologia e S.S. di Stroke Unit, ASST di Mantova, Mantova, Italy (G.S., A.L., A.C.); U.O. di Recupero e Rieducazione Funzionale, IRCCS Fondazione Don Gnocchi, Rovato, Italy (E.D.Z.); Stroke Unit, Neurologia Vascolare, Spedali Civili di Brescia, Brescia, Italy (M.G.); Laboratorio di Epidemiologia Molecolare e Nutrizionale, Dipartimento di Epidemiologia e Prevenzione, IRCCS Istituto Neurologico Mediterraneo, NEUROMED, Pozzilli, Italy (A.D.C., L.I., G.d.G.); and Dipartimento di Scienze del Sistema Nervoso e del Comportamento, Unità di Statistica Medica e Genomica, Università di Pavia, Pavia, Italy (M.G.).

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August 2016

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.

Am J Med Genet A 2016 08 5;170(8):2031-8. Epub 2016 May 5.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.

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August 2016

A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.

Am J Nephrol 2016 27;43(4):245-50. Epub 2016 Apr 27.

Division of Nephrology, Fourth Department of Internal Medicine, Klinikum Wels-Grieskirchen, Wels, Austria.

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January 2018

GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts.

Hum Mol Genet 2015 Dec 16;24(23):6769-87. Epub 2015 Sep 16.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy

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December 2015

Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.

Intern Emerg Med 2015 Mar 15;10(2):165-70. Epub 2015 Jan 15.

Emergency Department Stroke Unit, Department of Neurology and Psychiatry, Policlinico Umberto I Hospital, Sapienza University, Viale del Policlinico 155, 00161, Rome, Italy,

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March 2015

Connective tissue anomalies in patients with spontaneous cervical artery dissection.

Neurology 2014 Nov 29;83(22):2032-7. Epub 2014 Oct 29.

From the U.O. Neurologia (A.G.), Istituto Clinico S. Anna, Brescia; Dipartimento di Scienze Cliniche e Sperimentali (P.C., A.M., L.P., I.V., V.D.G., A. Padovani, A. Pezzini), Clinica Neurologica, Università degli Studi di Brescia; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Milano; Stroke Unit (M.G.), Neurologia Vascolare, Spedali Civili di Brescia; U.O. Neurologia (P.B., G.T., M. Carletti), Azienda Ospedaliera-Universitaria Borgo Trento, Verona; U.O.C. Neurologia (N. Checcarelli), Ospedale Valduce, Como; Dipartimento di Neuroscienze (G.M.), Università di Padova; U.O.C. Neurologia (M.M.), Ospedale di Arzignano; S.O.C. Neurologia (M. Chinaglia), Ospedale di Rovigo; and Sezione di Biologia e Genetica (M.R., N. Chiarelli, M. Colombi), Dipartimento di Medicina Molecolare e Traslazionale, Università degli Studi di Brescia, Italia.

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November 2014

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

BMC Med Genet 2014 Aug 28;15:91. Epub 2014 Aug 28.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, Medical Faculty, University of Brescia, Viale Europa 11, Brescia 25123, Italy.

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August 2014

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

J Dermatol Sci 2014 Jul 18;75(1):66-8. Epub 2014 Apr 18.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Italy. Electronic address:

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July 2014

Antithrombotic medications and the etiology of intracerebral hemorrhage: MUCH-Italy.

Neurology 2014 Feb 15;82(6):529-35. Epub 2014 Jan 15.

From the Dipartimento di Scienze Cliniche e Sperimentali, Clinica Neurologica (A. Pezzini, P.C., L.P., A.M., V.D.G., A. Padovani), and Divisione di Biologia e Genetica, Dipartimento di Medicina Molecolare e Traslazionale (M.R., M.C.), Università degli Studi di Brescia; Dipartimento di Scienze del Sistema Nervoso e del Comportamento (M. Grassi, D.P.), Unità di Statistica Medica e Genomica, Università di Pavia; Stroke Unit and Divisione di Medicina Cardiovascolare (M.P., V.C., G.A.), Università di Perugia; Stroke Unit (A.Z., M.L.D., A.M.S.), Clinica Neurologica, Nuovo Ospedale Civile "S. Agostino Estense," AUSL Modena; U.O di Neurologia (G.S., A.L., A.C.), Ospedale "C. Poma," Mantova; U.O. di Recupero e Rieducazione Funzionale (E.D.Z.), IRCCS Fondazione Don Gnocchi, Rovato; U.O Neurologia (A.G., I.V.), Istituto Clinico "S. Anna," Brescia; and Stroke Unit (M. Gamba), Neurologia Vascolare, Spedali Civili di Brescia, Brescia, Italy.

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February 2014

Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.

BMC Med Genet 2014 Jan 7;15. Epub 2014 Jan 7.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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January 2014

Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.

Am J Med Genet A 2014 Feb 5;164A(2):528-34. Epub 2013 Dec 5.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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February 2014

Complications of acute stroke and the occurrence of early seizures.

Cerebrovasc Dis 2013 31;35(5):444-50. Epub 2013 May 31.

Dipartimento di Scienze Cliniche e Sperimentali, Università degli Studi di Brescia, Brescia, Italia. alessandro.pezzini @ med.unibs.it

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January 2014

Recurring and generalized visceroptosis in Ehlers-Danlos syndrome hypermobility type.

Am J Med Genet A 2013 May 26;161A(5):1143-7. Epub 2013 Mar 26.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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May 2013

Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients.

Am J Med Genet A 2012 Sep 27;158A(9):2176-82. Epub 2012 Jul 27.

Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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September 2012

Type III and V collagens modulate the expression and assembly of EDA(+) fibronectin in the extracellular matrix of defective Ehlers-Danlos syndrome fibroblasts.

Biochim Biophys Acta 2012 Oct 15;1820(10):1576-87. Epub 2012 Jun 15.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, 25123 Brescia, Italy.

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October 2012

Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.

Am J Med Genet A 2012 May 9;158A(5):1216-8. Epub 2012 Apr 9.

Marfan Center, Cardiothoracovascular Department, University Hospital S.Orsola, Bologna, Italy.

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May 2012

Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel homozygous c.1411+1G>A mutation in the SLC2A10 gene.

Am J Med Genet A 2012 May 9;158A(5):1164-9. Epub 2012 Apr 9.

Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.

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May 2012

Characterization and expression pattern analysis of the facilitative glucose transporter 10 gene (slc2a10) in Danio rerio.

Int J Dev Biol 2011 ;55(2):229-36

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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December 2011

Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.

J Neurol Neurosurg Psychiatry 2011 Dec 26;82(12):1372-4. Epub 2011 Jan 26.

Dipartimento di Scienze Mediche e Chirurgiche, Clinica Neurologica, Università degli Studi di Brescia, P le Spedali Civili, 1, 25100 Brescia, Italia.

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December 2011

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome.

Am J Med Genet A 2010 Aug;152A(8):2043-7

Medical Genetics, Department of Experimental Medicine, Sapienza - University of Rome, San Camillo-Forlanini Hospital, Rome, Italy.

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August 2010

Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

Orphanet J Rare Dis 2009 Nov 2;4:24. Epub 2009 Nov 2.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Brescia, Italy.

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November 2009

Arterial tortuosity syndrome in two Italian paediatric patients.

Orphanet J Rare Dis 2009 Sep 25;4:20. Epub 2009 Sep 25.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Medical Faculty, University of Brescia, Brescia, Italy.

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September 2009

The FN13 peptide inhibits human tumor cells invasion through the modulation of alpha v beta 3 integrins organization and the inactivation of ILK pathway.

Biochim Biophys Acta 2007 Jun 24;1773(6):747-63. Epub 2007 Feb 24.

Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy.

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June 2007

Macrophage cell cultures for rapid isolation of intracellular bacteria: the Mycobacterium bovis model.

Methods Mol Biol 2006 ;345:203-17

Department of Immunopropylaxis and Animal Welfare, Instituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia-Romagna, Brescia, Italy.

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October 2006

Effects of IFN-alpha on the inflammatory response of swine leukocytes to bacterial endotoxin.

J Interferon Cytokine Res 2005 Apr;25(4):202-8

Department of Immunoprophylaxis and Animal Welfare, Istituto Zooprofilattico Sperimentale, 25124 Brescia, Italy.

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April 2005