Colombi Marina

Responsabile dell'U.O.

Cognome e Nome

Colombi Marina

Qualifica

PO

Dipartimento

Molecular and Translational Medicine, University of Brescia

Settore scientifico disciplinare

MED/03 Genetica Medica

E-mail

marina.colombi@unibs.it

Telefono

+39 030 3717240

Personale strutturato

Cognome e Nome

Ritelli Marco

Qualifica

PA

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Cognome e Nome

Zoppi Nicoletta

Qualifica

PA

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Cognome e Nome

Chiarelli Nicola

Qualifica

PA

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Cognome e Nome

Bertini Valeria

Qualifica

Technician

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Cognome e Nome

Skripac Jelena

Qualifica

Technician

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Personale non strutturato

Cognome e Nome

Cinquina Valeria

Qualifica

Post-doc

Dipartimento

Molecular and Translational Medicine

Ente di appartenenza

University of Brescia

Linee di ricerca

- Clinical and molecular characterization of patients affected whit heritable connective tissue disorders, i.e., Ehlers-Danlos syndromes (EDS), arterial tortuosity syndrome, Loeys-Dietz syndrome, Marfan syndrome, Cutis laxa, Pseudoxanthoma elasticum, Osteogenesis imperfecta, and dystrophic epidermolysis bullosa. - In vitro expression studies: disease mechanisms involved in the pathogenesis of hypermobile, vascular, and classical EDS by transcriptome and proteome/secretome profiling, cellular and biochemical approaches in dermal fibroblasts from patients affected with these disorders. - Identification of key bioactive molecules and related disease pathways associated with the pathogenesis of hypermobile EDS (hEDS) and hypermobility spectrum disorders (HSD) through a combined approach based on transcriptomics and proteomics. - In vivo translational studies to identify disease mediators/biomarkers in the blood samples of hEDS and HSD patients. Our goal is to guide the development of blood-based diagnostic biomarkers and offer timely and optimal intervention strategies for patients’ management.

Tecnologie in uso dall'UO

  1. 1.
    NGS panel covering almost all EDS-associated genes and those of some overlapping conditions
  2. 2.
    Exome sequencing
  3. 3.
    Genetic tools for molecular diagnosis
  4. 4.
    Proteome profiling
  5. 5.
    Identification of aberrant signaling pathways
  6. 6.
    Cellular, biochemical, and functional characterization of human dermal fibroblasts from patients with connective tissue disorders
  7. 7.
    Transcriptome sequencing (RNA-seq)
  8. 8.
    Microarray-based transcriptome profiling
  9. 9.
    Bioinformatics
  10. 10.
    Identification of potential biomarkers in patients’ blood samples

Strumentazione

Denominazione

Affymetrix array platform
Ion Proton and S5 Sequencers
SeqStudio Genetic Analyzer
QuantStudio 3 Real-Time PCR System
Digital droplet PCR

Struttura ove la strumentazione è allocata

Department of Molecular and Translational Medicine
Department of Molecular and Translational Medicine
Department of Molecular and Translational Medicine
Department of Molecular and Translational Medicine
Department of Molecular and Translational Medicine

Responsabile

Prof. Marina Colombi
Prof. Giuseppe Borsani
Prof. Marco Ritelli
Prof. Marco Ritelli
Prof. Alessandro Salvi

Pubblicazioni

  1. 1.
    Ranjan R, Ken-Dror G, Martinelli I, Grandone E, Hiltunen S, Lindgren E, Margaglione M, Le Cam Duchez V, Bagan Triquenot A, Zedde M, Mancuso M, Ruigrok YM, Worrall B, Majersik JJ, Putaala J, Haapaniemi E, Zuurbier SM, Brouwer MC, Passamonti SM, Abbattista M, Bucciarelli P, Lemmens R, Pappalardo E, Costa P, Colombi M, Aguiar de Sousa D, Rodrigues S, Canhao P, Tkach A, Santacroce R, Favuzzi G, Arauz A, Colaizzo D, Spengos K, Hodge A, Ditta R, Han TS, Pezzini A, Coutinho JM, Thijs V, Jood K, Tatlisumak T, Ferro JM, Sharma P. Age of onset of cerebral venous thrombosis: the BEAST study. Eur Stroke J. 2023Mar;8(1):344-350. doi: 10.1177/23969873221148267. Epub 2023 Jan 6. PMID:37021156; PMCID: PMC10069208.
  2. 2.
    Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N,Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E,De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome. Eur J Hum Genet. 2023 Jan 4. doi:10.1038/s41431-022-01279-4. Epub ahead of print. PMID: 36599937.
  3. 3.
    Maione V, Soglia S, Miccio L, Calzavara-Pinton P, Napolitano A, Cinquina V, Ritelli M, Colombi M. Phacomatosis pigmentovascularis spilorosea and mutation in the PTPN11 gene: new case with significant neurologic impairment. J Dtsch Dermatol Ges. 2022 Aug;20(8):1133-1136. doi: 10.1111/ddg.14786. Epub 2022 Jun14. PMID: 35698861.
  4. 4.
    Colman M, Castori M, Micale L, Ritelli M, Colombi M, Ghali N, Van Dijk F, Marsili L, Weeks A, Vandersteen A, Rideout A, Legrand A, Frank M, Mirault T, Ferraris A, Di Giosaffatte N, Grammatico P, Grunert J, Frank C, Symoens S, SyxD, Malfait F. Atypical variants in COL1A1 and COL3A1 associated with classicaland vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinicalphenotype based on additional case reports. Clin Exp Rheumatol. 2022 May;40Suppl 134(5):46-62. doi: 10.55563/clin exp rheumatol/kzkq6y. Epub 2022 May 18.PMID: 35587586.
  5. 5.
    Vazquez M, Chovanec J, Kim J, DiMaggio T, Milner JD, Francomano CA, GurnettCA, Ritelli M, Colombi M, Lyons JJ. Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders. HGG Adv. 2022 Feb 22;3(2):100094. doi: 10.1016/j.xhgg.2022.100094. PMID:35287299; PMCID: PMC8917312.
  6. 6.
    Chiarelli N, Zoppi N, Venturini M, Capitanio D, Gelfi C, Ritelli M, Colombi M. Matrix Metalloproteinases Inhibition by Doxycycline Rescues Extracellular Matrix Organization and Partly Reverts Myofibroblast Differentiation in Hypermobile Ehlers-Danlos Syndrome Dermal Fibroblasts: A Potential Therapeutic Target? Cells. 2021 Nov 19;10(11):3236. doi: 10.3390/cells10113236. PMID:34831458; PMCID: PMC8621259.
  7. 7.
    Ken-Dror G, Cotlarciuc I, Martinelli I, Grandone E, Hiltunen S, Lindgren E, Margaglione M, Duchez VLC, Triquenot AB, Zedde M, Mancuso M, Ruigrok YM, Marjot T, Worrall B, Majersik JJ, Metso TM, Putaala J, Haapaniemi E, Zuurbier SM, Brouwer MC, Passamonti SM, Abbattista M, Bucciarelli P, Mitchell BD, Kittner SJ, Lemmens R, Jern C, Pappalardo E, Costa P, Colombi M, de Sousa DA, Rodrigues S, Canhão P, Tkach A, Santacroce R, Favuzzi G, Arauz A, Colaizzo D, Spengos K, Hodge A, Ditta R, Pezzini A, Debette S, Coutinho JM, Thijs V, Jood K, Pare G, Tatlisumak T, Ferro JM, Sharma P. Genome-Wide Association Study Identifies First Locus Associated with Susceptibility to Cerebral Venous Thrombosis. Ann Neurol.2021 Nov;90(5):777-788. doi: 10.1002/ana.26205. Epub 2021 Sep 29. PMID:34459509; PMCID: PMC8666091.
  8. 8.
    Chiarelli N, Zoppi N, Ritelli M, Venturini M, Capitanio D, Gelfi C, Colombi M. Biological insights in the pathogenesis of hypermobile Ehlers-Danlos syndrome from proteome profiling of patients' dermal myofibroblasts. Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166051. doi: 10.1016/j.bbadis.2020.166051.Epub 2020 Dec 28. PMID: 33383104.
  9. 9.
    Ritelli M, Palagano E, Cinquina V, Beccagutti F, Chiarelli N, Strina D, HallI F, Villa A, Sobacchi C, Colombi M. Genome-first approach for the characterization of a complex phenotype with combined NBAS and CUL4B deficiency. Bone. 2020 Nov;140:115571. doi: 10.1016/j.bone.2020.115571. Epub 2020 Aug 6.PMID: 32768688.
  10. 10.
    Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet J Rare Dis. 2020 Jul31;15(1):197. doi: 10.1186/s13023-020-01470-0. PMID: 32736638; PMCID:PMC7393722.

Dottorati di ricerca

Componente UO

Colombi Marina
Ritelli Marco
Zoppi Nicoletta

Dottorato di ricerca

Molecular Genetics, Biotechnologies and Experimental Medicine
Molecular Genetics, Biotechnologies and Experimental Medicine
Molecular Genetics, Biotechnologies and Experimental Medicine

Coordinatore

Prof. Monti Eugenio
Prof. Monti Eugenio
Prof. Monti Eugenio

Sede

University of Brescia
University of Brescia
University of Brescia