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Employment (1)

EURAC Centro di Biomedicina: Bolzano, Trentino-Alto Adige, IT

2018-06-04 to present
Employment
Source: Self-asserted source
Marzia De Bortoli

Education and qualifications (2)

University of Padua: Padua, Veneto, IT

Degree in Biological Sciences.
Education
Source: Self-asserted source
Marzia De Bortoli

University of Padua: Padua, Veneto, IT

PhD in Biosciences. Genetics and Developmental Molecular Biology
Education
Source: Self-asserted source
Marzia De Bortoli

Works (50 of 52)

Items per page:
Page 1 of 2

In vitro modelling of the neurocardiac junction with a novel human iPSC-based co-culture system: new perspectives for the investigation of cardiac autonomic regulation

Oxford ISAN 2024: Cardiac Neurobiology: Concepts to Clinic + 13th Congress of The International Society for Autonomic Neuroscience (ISAN) ; oxford + Birmingham ; 23.7.2024 - 27.7.2024
2024-07-23 | Other
OTHER-ID:

a783c8f9-3199-493f-9eeb-ebc067d60730

Contributors: Cattelan G; Gentile G; Volani C; Frommelt LS; Lavdas A; Foco L; Altomare C; Barile L; Zacchigna S; Pramstaller PP et al.
Source: check_circle
Eurac Research

Increased compressive stiffness in cell spheroids from Hypertrophic cardiomyopathy

29th Congress of the European Society of Biomechanics ; Edinburgh ; 30.6.2024 - 3.7.2024
2024-06-30 | Other
OTHER-ID:

f68763b3-cc4d-4bc0-9e6f-60bd585c838b

Contributors: Giannopoulos D; Schlittler M; De Bortoli M; Coppini R; Cerbai E; Thurner PJ; Rossini A; Andriotis OG
Source: check_circle
Eurac Research

Green Chemistry, red flags: Multiparametric cardiotoxicity screening of phytochemicals using hiPSC-CMs-MEA Assay

ESTIV 2024 - 22 nd International Congress of the European Society of Toxicology In Vitro ; Prague ; 3.6.2024 - 6.6.2024
2024-06-03 | Other
OTHER-ID:

5011041f-4d55-4502-8054-5e11edfabe26

Contributors: Frommelt LS; Mackova K; Volani C; Voutsinas C; Altomare C; Barile L; De Bortoli M; Cattelan G; Pramstaller PP; Oberzaucher J et al.
Source: check_circle
Eurac Research

Micromechanics of cardiac spheroids

IUTAM Symposium on Theoretical and Numerical Developments in Cellular Mechanobiology ; Seville ; 3.6.2024 - 5.6.2024
2024-06-03 | Other
OTHER-ID:

1412789d-4774-4196-bc36-8a33c6a63d4d

Contributors: Giannopoulos D; Schlittler M; De Bortoli M; Coppini R; Petrovic M; Cerbai E; Schütz G; Thurner PJ; Rossini A; Andriotis OG
Source: check_circle
Eurac Research

An antisense lncRNA mediated mechanism controls desmoplakin gene expression

Frontiers in CardioVascular Biomedicine (FCVB) 2024 ; Amsterdam ; 12.4.2024 - 14.4.2024
2024-04-12 | Other
OTHER-ID:

a5e79814-71ac-4999-b7d1-9d810cb1b6cc

Contributors: De Bortoli M; Foco L; Frommelt LS; Riekschnitz DA; Volani C; Motta BM; Fuchsberger C; Pramstaller PP; Pattaro C; Rossini A
Source: check_circle
Eurac Research

A functional follow-up from the CHRIS study identified an antisense-mediated mechanism controlling Desmoplakin gene expression involved in Arrhythmogenic Cardiomyopathy

Dolomeeting-Arrhythmias 2024 ; Bolzano ; 21.2.2024 - 23.2.2024
2024-02-21 | Other
OTHER-ID:

aca7943a-aad5-408a-bc8b-928b204af9cf

Contributors: De Bortoli M; Foco L; Frommelt LS; Riekschnitz DA; Volani C; Motta BM; Fuchsberger C; Pramstaller PP; Pattaro C; Rossini A.
Source: check_circle
Eurac Research

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes

Computational and Structural Biotechnology Journal
2023 | Journal article
Contributors: Marzia De Bortoli; Viviana Meraviglia; Katarina Mackova; Laura S. Frommelt; Eva König; Johannes Rainer; Chiara Volani; Patrizia Benzoni; Maja Schlittler; Giada Cattelan et al.
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

An innovative human IPSC-based co-culture model for in vitro studies of neuro-cardiac interactions

Austrian 3Rdays ; Innsbruck ; 5.12.2023 - 7.12.2023
2023-12-05 | Other
OTHER-ID:

cc38fe8a-38f3-4ce2-af8d-8156f74b980b

Contributors: Cattelan G; Gentile G; Volani C; Frommelt LS; Lavdas A; Foco L; De Bortoli M; Altomare C; Barile L; Zacchigna S et al.
Source: check_circle
Eurac Research

Green Chemistry, red flags: Multiparametric cardiotoxicity screening of phytochemicals using hiPSC-CMs-MEA Assay

CBFH Biennial Meeting 2023; Biennial Meeting of the ESC Working Group on Myocardial Function & Cellular Biology of the Heart ; Napoli ; 25.11.2023 - 27.11.2023
2023-11-25 | Other
OTHER-ID:

0fe67f6d-070e-4880-a132-54a4ef1582b1

Contributors: Frommelt LS; Mackova K; Volani C; Voutsinas C; Altomare C; Barile L; De Bortoli M; Cattelan G; Pramstaller P; Oberzaucher J et al.
Source: check_circle
Eurac Research

Myocardial Fibrosis in Hypertrophic Cardiomyopathy: A Perspective from Fibroblasts

International Journal of Molecular Sciences
2023-10-02 | Journal article
Contributors: Maja Schlittler; Peter P. Pramstaller; Alessandra Rossini; Marzia De Bortoli
Source: check_circle
Crossref
grade
Preferred source (of 3)‎

A novel human iPSC-based co-culture model to study neurocardiac interaction in vitro

The role of 3Rs in the age of One Health: where we are and where we’re going ; Milan ; 13.9.2023 - 15.9.2023
2023-09-13 | Other
OTHER-ID:

206b765f-5a06-4840-b4d4-73fed7e3644f

Contributors: Cattelan G; Gentile G; Volani C; Frommelt LS; Lavdas A; Foco L; De Bortoli M; Altomare C; Barile L; Zacchigna S et al.
Source: check_circle
Eurac Research

Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation

Stem Cell Research
2023-07-28 | Journal article
OTHER-ID:

e8f92d54-65d7-42a9-9dfe-a468ba464b46

Part of ISSN: 1873-5061
Contributors: Cattelan G; Frommelt LS; Volani C; Colliva A; Ciucci G; Paldino A; Dal Ferro M; Di Segni M; Silipigni R; Pramstaller PP et al.
Source: check_circle
Eurac Research

Functional follow-up of a QRS-associated variant suggests an antisense-mediated mechanism controlling desmoplakin gene expression

37th Annual Meeting of the International Society for Heart Research - European Section (ISHR-ES) ; Porto ; 10.7.2023 - 13.7.2023
2023-07-10 | Other
OTHER-ID:

7114435e-1311-4baa-a57f-7954bd7dd100

Contributors: De Bortoli M; Frommelt LS; Riekschnitz DA; Volani C; Motta BM; Fuchsberger C; Pramstaller PP; Rossini A; Pattaro C; Foco L
Source: check_circle
Eurac Research

Modeling incomplete penetrance in Arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes

INCardio Webinar - Cardiac arrhythmias and novel tools for the definition of new anti-arrhythmic therapies ; Online ; 14.9.2022 - 14.9.2022
2022-09-14 | Other
OTHER-ID:

3a0e4bb1-e61c-4278-b33b-aaace7dd06ae

Contributors: De Bortoli M
Source: check_circle
Eurac Research

Evaluation of a novel in vitro neurocardiac cellular model for the study of heart disorders

MEA Meeting 2022 - 12th International Conference on Microelectrode Arrays for Life Sciences ; Tübingen ; 6.7.2022 - 8.7.2022
2022-07-06 | Other
OTHER-ID:

aeffeb66-28a9-4ba3-83fb-a45e2829ca67

Contributors: Cattelan G; Gentile G; Frommelt LS; Lavdas A; Foco L; De Bortoli M; Mackova K; Ciucci G; Zacchigna S; Pramstaller PP et al.
Source: check_circle
Eurac Research

GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy

Journal of Cellular and Molecular Medicine
2022-06-16 | Journal article
OTHER-ID:

24d0ba44-6fb9-42ab-8740-cf90fc8660a8

Part of ISSN: 1582-1838
Contributors: Volani C; Pagliaro A; Rainer J; Paglia G; Porro B; Stadiotti I; Foco L; Cogliati E; Paolin A; Lagrasta C et al.
Source: check_circle
Eurac Research

Are human induced pluripotent stem cell derived cardiomyocytes a good cellular model for studying incomplete penetrance in Arrhythmogenic Cardiomyopathy?

Frontiers in CardioVascular Biomedicine 2022 ; Budapest ; 29.4.2022 - 1.5.2022
2022-04-29 | Other
OTHER-ID:

0c07ccf5-d0b7-47a1-97d0-23772448c2bb

Contributors: De Bortoli M; Meraviglia V; Mackova K; Volani C; Frommelt LS; Schlittler M; Cattelan G; König E; Rauhe W; Barbuti A et al.
Source: check_circle
Eurac Research

Evidence of mitochondrial alterations in primary cardiac stromal cells from arrhythmogenic cardiomyopathy hearts

Frontiers in CardioVascular Biomedicine 2022 ; Budapest ; 29.4.2022 - 1.5.2022
2022-04-29 | Other
OTHER-ID:

b1a4af6b-8d32-4fde-8490-2d5a568b6d40

Contributors: Philippe R; Volani C; Medici A; Texler B; Pagliaro A; Stadiotti I; Meraviglia V; De Bortoli M; Guarino A; Blumer M et al.
Source: check_circle
Eurac Research

Set-up of a novel in vitro neurocardiac cell model for the in-depth study of heart disease

Frontiers in CardioVascular Biomedicine 2022 ; Budapest ; 29.4.2022 - 1.5.2022
2022-04-29 | Other
OTHER-ID:

5f5f1aa9-b00c-44e1-97c2-084a1ab753e7

Contributors: Cattelan G; Frommelt LS; De Bortoli M; Mackova K; Ciucci G; Zacchigna S; Pramstaller PP; Pichler I; Zanon A; Rossini A
Source: check_circle
Eurac Research

Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study

Biomolecules
2021-11 | Journal article | Author
Contributors: David B. Emmert; Vladimir Vuković; Nikola Dordevic; Christian X. Weichenberger; Chiara Losi; Yuri D’Elia; Claudia Volpato; Vinicius V. Hernandes; Martin Gögele; Luisa Foco et al.
Source: check_circle
Multidisciplinary Digital Publishing Institute
grade
Preferred source (of 2)‎

GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from ACM patients

6th world congress of the Tissue Engineering and Regenerative Medicine International Society (TERMIS) ; Maastricht (virtual event) ; 15.11.2021 - 19.11.2021
2021-11-15 | Other
OTHER-ID:

06589688-05b5-4e83-b377-a7ea84dc7827

Contributors: Volani C; Pagliaro A; Meraviglia V; De Bortoli M; Ermon B; Matzinger T; Cogliati E; Paolin A; Pompilio G; Rainer J et al.
Source: check_circle
Eurac Research

Metabolic signature of arrhythmogenic cardiomyopathy

8th Munich Metabolomics Symposium ; Munich (virtual event) ; 12.11.2021 - 12.11.2021
2021-11-12 | Other
OTHER-ID:

587f43e0-c262-4d91-aa7b-9c501bad6220

Contributors: Volani C; Rainer J; Veri HV; Meraviglia V; De Bortoli M; Tagliaferri A; Pramstaller PP; Smárason S; Pompilio G; Casella M et al.
Source: check_circle
Eurac Research

Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy

Cells
2021-09-28 | Journal article
Contributors: Claudia Sacchetto; Zenab Mohseni; Robin M. W. Colpaert; Libero Vitiello; Marzia De Bortoli; Indira G. C. Vonhögen; Ke Xiao; Giulia Poloni; Alessandra Lorenzon; Chiara Romualdi et al.
Source: check_circle
Crossref
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Preferred source (of 3)‎

Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.

Stem cell research
2021-07-15 | Journal article
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Genetic determinants of atrial fibrillation in a general population sample

Cardio Genomics 2021 ; ; 20.3.2021 - 20.3.2021
2021-03-20 | Other
OTHER-ID:

5e4a70ba-3b61-4965-9958-6725ae60def3

Contributors: De Bortoli M; Emmert DB; Vukovic V; Losi C; D’Elia Y; Gögele M; Pontali G; Weichenberger CX; Mascalzoni D; Domingues FS et al.
Source: check_circle
Eurac Research

MiR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy

Cardio Genomics 2021 ; ; 20.3.2021 - 20.3.2021
2021-03-20 | Other
OTHER-ID:

a482feb5-d4c7-4b47-936f-710a1ede71e5

Contributors: De Bortoli M
Source: check_circle
Eurac Research

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

JCI Insight
2019-12-05 | Journal article
Part of ISSN: 2379-3708
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Human iPSC-derived cardiomyocytes as a cellular model for studying reduced penetrance in Arrhythmogenic Cardiomyopathy

ESC working group on Myocardial and pericardial diseases ; A Coruna ; 4.10.2019 - 5.10.2019
2019-10-04 | Other
OTHER-ID:

f3685e91-d37d-4744-b0de-4ae4c2ac701c

Contributors: De Bortoli M; Meraviglia V; Cattelan G; Ermon B; De Musso M; Chiarelli R; Motta BM; Volani C; Pagliaro A; Piazza S et al.
Source: check_circle
Eurac Research

Understanding arrhythmogenic cardiomiopathy using human iPSCs and primary stromal cells

Joint Meeting of the Federetion of European Physiological Societies (FEPS) and the Italian Physiological Society (SIF) ; Bologna ; 10.9.2019 - 13.9.2019
2019-09-10 | Other
OTHER-ID:

0af14859-396d-4450-a2fe-0f50e2e8662a

Contributors: De Bortoli M; Rossini A
Source: check_circle
Eurac Research

Next Generation Sequencing identifies novel variants in TJP1, TP63 and PPP1R13L genes in Arrhythmogenic Cardiomyopathy patients.

European Human Genetics Conference ; Gothenburg ; 15.6.2019 - 18.6.2019
2019-06-15 | Other
OTHER-ID:

9eeb6041-7fd6-483e-b3ef-732b9d5928ac

Contributors: Calore M; Poloni G; Postma AV; Lorenzon A; Minervini G; Vazza G; Li Mura IEA; Telatin A; Zara I; Simionati B et al.
Source: check_circle
Eurac Research

Trait aggregation analysis in families with large pedigrees: techniques, assessment and examples

European Society of Human Genetics ; Gothenburg ; 15.6.2019 - 18.6.2019
2019-06-15 | Other
OTHER-ID:

1a1d87c9-7c18-49a8-94cd-931a3ef220e5

Contributors: Weichenberger CX; Rainer J; Motta BM; De Bortoli M; Vukovic V; Pattaro C; Rossini A; Pramstaller PP; Domingues FS
Source: check_circle
Eurac Research

A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy

Heart Rhythm
2019-05 | Journal article
Part of ISSN: 1547-5271
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy

Circulation: Genomic and Precision Medicine
2018-10 | Journal article
Part of ISSN: 2574-8300
Part of ISSN: 2574-8300
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

New FIG4 gene mutations causing aggressive ALS

European Journal of Neurology
2018-03 | Journal article
Part of ISSN: 1351-5101
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy

European Journal of Human Genetics
2017-10 | Journal article
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients

Circulation: Arrhythmia and Electrophysiology
2017-10 | Journal article
Part of ISSN: 1941-3149
Part of ISSN: 1941-3084
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

Archives of Medical Science
2016 | Journal article
Part of ISSN: 1734-1922
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing.

Journal of cardiovascular medicine (Hagerstown, Md.)
2016-06-01 | Journal article
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

Arthritis Research & Therapy
2015-12 | Journal article
Part of ISSN: 1478-6354
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy

The American Journal of Cardiology
2015-10 | Journal article
Part of ISSN: 0002-9149
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Arrhythmogenic cardiomyopathy: a disease of intercalated discs

Cell and Tissue Research
2015-06 | Journal article
Part of ISSN: 0302-766X
Part of ISSN: 1432-0878
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

A founderMYBPC3mutation results in HCM with a high risk of sudden death after the fourth decade of life

Journal of Medical Genetics
2015-05 | Journal article
Part of ISSN: 0022-2593
Part of ISSN: 1468-6244
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

Epilepsy Research
2015-02 | Journal article
Part of ISSN: 0920-1211
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Compound and Digenic Heterozygosity Predicts Lifetime Arrhythmic Outcome and Sudden Cardiac Death in Desmosomal Gene–Related Arrhythmogenic Right Ventricular Cardiomyopathy

Circulation: Cardiovascular Genetics
2013-12 | Journal article
Part of ISSN: 1942-325X
Part of ISSN: 1942-3268
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

European Journal of Human Genetics
2013-11 | Journal article
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy

The American Journal of Cardiology
2013-02 | Journal article
Part of ISSN: 0002-9149
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

European Heart Journal
2013-01-14 | Journal article
Part of ISSN: 1522-9645
Part of ISSN: 0195-668X
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations

Heart Rhythm
2011-11 | Journal article
Part of ISSN: 1547-5271
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

European Journal of Human Genetics
2010-07 | Journal article
Part of ISSN: 1018-4813
Part of ISSN: 1476-5438
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Heart Rhythm
2010-01 | Journal article
Part of ISSN: 1547-5271
Source: Self-asserted source
Marzia De Bortoli
grade
Preferred source (of 2)‎
Items per page:
Page 1 of 2

Peer review (2 reviews for 2 publications/grants)

Review activity for Genome medicine. (1)
Review activity for PloS one. (1)