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Dott.ssa Martina Migliorero

Contatti

Supervisore

Benedetta Bussolati

Attività di ricerca

Functional validation of a newly discovered pathogenic variant in a child affected by 3MC syndrome

Functional validation of Variants of Unknown Significance (VUS) identified trough clinical exome sequencing in a cohort of patients suffering from Polycystic Kidney Disease (PKD)

Transcriptional characterization of cystic cells obtained from ADPKD patients through single-nuclei RNA sequencing.

Migliorero M. et al. “A novel COLEC10 mutation in a child with 3MC syndrome” European Journal of Medical Genetics, 2021.

Chiotto A. M., Migliorero M. “Neuronal Cell-Intrinsic Defects in Mouse Models of Down Syndrome” Frontiers in Neuroscience, 2019

Migliorero M. et al. COLEC10 and 3MC syndrome: expanding the genotypic and phenotypic spectrum of a very rare disease. 22nd-23rd February 2021, Rare2021, eposter.

Migliorero M. et al. COLEC10 and 3MC syndrome: expanding the genotypic and phenotypic spectrum of a very rare disease. 5th-8th June 2021, 58th ERA-EDTA virtual congress, mini-oral.

Migliorero M. et al. COLEC10 and 3MC syndrome: expanding the genotypic and phenotypic spectrum of a very rare disease. 28th-31th August 2021 – European Society of Human Genetics (ESHG), eposter presentation

Migliorero M, Bracciamà V, Arruga F, Vitale N, Sorbini M, Amoroso A, Vaisitti T, Deaglio S (2022). Development of a new cellular model to understand genotype-phenotype correlations in patients with polycystic kidney disease exploiting CRISPR/Cas9 system.

Migliorero M, Bracciamà V, Arruga F, Amoroso A, Vaisitti T, Deaglio S (2022). Development of a cellular tool based on CRISPR/Cas9 system to study genotype-phenotype correlations for Polycystic Kidney Disease patients.

Saglia C, Kalantari S, Albanese S, Tessaris D., Carli D, Migliorero M, Arruga F, Amoroso A, De Sanctis L, Vaisitti T, Deaglio S (2023). Functional evaluation of a novel nonsense variant of the CASR gene identified in a patient with chronic hypocalcemia.

Migliorero M, Marsalla D, Saglia C, Bracciamà V, Arruga F, Amoroso A, Vaisitti T, Deaglio S (2023). Development of a new cellular model to evaluate the clinical impact of PKD1 variants exploiting base editors.

Migliorero M, Marsalla D, Saglia C, Bracciamà V, Arruga F, Amoroso A, Vaisitti T, Deaglio S (2023). Development of a new cellular model to evaluate the clinical impact of PKD1 variants exploiting CRISPR/Cas9 system

22nd-23rd February 2021, Virtual congress of rare disorders (Rare2021), eposter presentation.

5th-8th June 2021, ERA-EDTA virtual congress, mini-oral presentation.

28th-31st August 2021 – European Society of Human Genetics (ESHG) virtual congress, mini-oral

June 2022 - European Society of Human Genetics (ESHG), mini-oral presentation, Vienna

September 2022 - Società Italiana di Genetica Umana (SIGU), mini-oral presentation, Trieste

June 2023 - European Society of Human Genetics (ESHG), poster, Glasgow

June 2023 - European Renal Association (ERA), mini-oral presentation - Milan. Best poster for young authors

May 2023. Regulation of Cellular Homeostasis through Mitochondrial-Nuclear Communication, Dr. Valentina Perissi

June 2023. Identification of a novel phosphoinositide-lysosomal signalling axis and its roles in cancer progression and therapy resistance. Dr. Leonardo Salmena

July 2023. Cellular metabolism environment and neocortical growth: new pathways underlying microcephaly pathogenesis? Dr. Pierre Gressens

October 2023. Mechanisms of Somatic Mutation and Tumor Initiation in the Aging Kidney, Dr Irene Franco

December 2022. Myotubularin-related protein (MTMR) phosphoinositide phosphatases and inherited neuropathies, Dr. Alessandra Bolino

December 2022. Functional imaging of nanodomains in cardiomyocytes, Dr. Julia Gorelik

November 2022. Biomedical nanofluidics for controlled cell and drug delivery, Dr. Alessandro Grattoni

October 2022. Small GTPase Rap1 signaling in endothelium, Dr. Magdalena Chrzanowska

June 2022. Systems Immunology of human disease through multiomics integration, Dr. Francesco Vallania

June 2021. Gene And Cell Therapy of Duchenne Muscular Dystrophy, Dr. Giulio Cossu UNITO

April 2021. Structural Variation in Disease And Evolution, Giuliana Giannuzzi UNITO

March 2021.  Phenotype-Driven Variant Prioritization Tool for Rare Disease Molecular Diagnosis and Gene Discovery – Using Exomiser at Scale in the Uk 100,000 Genomes Project, Dr. Valentina Cipriani UNITO

February 2021. Genome-Wide Risk and its Application to Prevention in Complex Diseases, Prof. Samuli Ripatti UNITO

January 2021. Diagnosi Genetica Preimpianto - Pgt: Applicazioni E Limiti. Dr. Daniela Zuccarello. UNITO

December 2020. Roadmap to genome interpretation, from variant-effect prediction to the in-silico diagnosis of genetic disorders. Dr. Daniele Raimondi UNITO

December 2020. Understanding human pluripotency by X chromosome reactivation. Dr. Irene Cantone. Federico II University, Naples.

December 2020. Synergistic efficacy of dual PI3K-g/d inhibitor Duvelisib with Bcl-2 inhibitor Venetoclax in Richter’s Syndrome PDX models. Dr. Andrea Iannello. UNITO

November 2020. Immune escape mechanisms in chronic lymphocytic leukemia. Dr. Martina Seiffert. German Cancer Research Center (DKFZ), Heidelberg

 

Corso di formazione in materia di Igiene e Sicurezza - Rischio Alto in area sanitaria - Settore Ateco 2007 Q 86 - (D. Lgs. 81/08 s.m.i.)

Lectures provided by the doctoral school of medical physiopathology - University of Turin (2021)

Lectures provided by the doctoral school of medical physiopathology - University of Turin (2022)

Lectures provided by the doctoral school of medical physiopathology - University of Turin (2023)

ZEBRAFISH COME ORGANISMO MODELLO: APPROCCI SPERIMENTALI IN VITRO E IN VIVO NELLA RICERCA SCIENTIFICA - Istituto Zooprofilattico Sperimentale
della Lombardia e dell’Emilia Romagna

BIOLOGIA E GESTIONE DEGLI ANIMALI DA LABORATORIO, MODULI 3.1, 4, 5, 6.1, 7. DM 5 AGOSTO 2021 RODITORI E LAGOMORFI - Istituto Zooprofilattico Sperimentale
della Lombardia e dell’Emilia Romagna

LEGISLAZIONE NAZIONALE ED ETICA LIVELLO 1, MODULI 1 E 2, DM 5 AGOSTO 2021 - Istituto Zooprofilattico Sperimentale della Lombardia e dell’Emilia Romagna

ETICA E CONCEZIONE DEI PROGETTI, MODULI 9, 10, 11, DM 5 AGOSTO 2021 - Istituto Zooprofilattico Sperimentale della Lombardia e dell’Emilia Romagna

Ultimo aggiornamento: 30/10/2023 15:43
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