Nadia Passon

Ospedale Santa Maria della Misericordia di Udine

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Giuseppe Damante

University of Udine

Federica Baldan

University of Udine

Alessandra Franzoni

University of Udine

Elisa Bregant

Ospedale Santa Maria della Misericordia di Udine

Cinzia Puppin

University of Udine

Diego Russo

Magna Graecia University

Catia Mio

Ospedale Santa Maria della Misericordia di Udine

Eliana Demori

Ospedale Santa Maria della Misericordia di Udine

Chiara Gnan

Ospedale Santa Maria della Misericordia di Udine

Sébastiano Filetti

Sapienza University of Rome

Cooperative Institutions

University of Udine

Ospedale Santa Maria della Misericordia di Udine

Istituti di Ricovero e Cura a Carattere Scientifico

University of Trieste

University of Naples Federico II

Azienda Unità Sanitaria Locale di Ferrara

Sapienza University of Rome

Magna Graecia University

Presidio Ospedaliero

Weatherford College

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Erratum

Cytogenetic and Genome Research (2018)

Nicolas Mary Stéphane Ferchaud Harmonie Barasc Anne Calgaro Nathalie Bonnet

10.1159/000490542

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Citations (0)

The PARP inhibitor PJ34 modifies proliferation, NIS expression and epigenetic marks in thyroid cancer cell lines

Molecular and Cellular Endocrinology (2012)

Elisa Lavarone Cinzia Puppin Nadia Passon Sébastiano Filetti Diego Russo

Sodium-iodide symporter

PARP inhibitor

10.1016/j.mce.2012.08.019

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Citations (21)

Cooperative effects of SAHA and VPA on NIS gene expression and proliferation of thyroid cancer cells

Journal of Molecular Endocrinology (2012)

Cinzia Puppin Nadia Passon Jerome M. Hershman Sébastiano Filetti Stefania Bulotta

Histone deacetylase inhibitors (HDACi) have shown both anti-proliferative and redifferentiating effects in thyroid cancer cells. Also, they induce the expression of the sodium–iodide symporter gene ( NIS ( SLC5A5 )), a crucial step for radioiodine treatment of thyroid malignancies. Here we investigated the effects of suberoylanilide hydroxamic acid (SAHA) and valproic acid (VPA) on BCPAP and FRO thyroid cancer cells, extending our analysis on the epigenetic mechanisms underlying the NIS gene expression stimulation. In both cell lines we found a cooperative effect of the two compounds on either cell viability and NIS gene expression, resulting in acquired/increased ability to uptake the radioiodine. Such effect was specific since it was not observed for expression of other genes or when SAHA was used in combination with trichostatin A. By using chromatin immunoprecipitation, we investigated epigenetic mechanisms underlying SAHA and VPA effects. Cooperation among the two HDACi occurred on H3 histone trimethylation at lysine 4 (H3K4me3) and not on histone acetylation. However, effects on H3K4me3 were detected only at the level of NIS Proximal Basal Promoter (NIS-PBP) in FRO cells and only at the level of NIS Upstream Enhancer (NIS-NUE) in BCPAP cells. Our data indicate that epigenetic changes are involved in the synergistic effects of VPA and SAHA on NIS gene expression and that the cellular context modifies effects of HDACi in terms of H3K4me3 target sequence. Investigation of cooperation among different HDACi may provide clues for better defining their mechanism of action in view of their use in thyroid cancer treatment.

Trichostatin A

Sodium-iodide symporter

H3K4me3

Chromatin immunoprecipitation

Sodium butyrate

Vorinostat

10.1530/jme-11-0063

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Citations (11)

Down-regulation of SM22/transgelin gene expression during H9c2 cells differentiation

Molecular and Cellular Biochemistry (2009)

Elisa Bregant Giovanni Renzone Renata Lonigro Nadia Passon Carla Di Loreto

Transdifferentiation

GATA4

10.1007/s11010-009-0052-2

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Citations (10)

Genomic Deletion Involving the IMMP2L Gene in Two Cases of Autism Spectrum Disorder

Cytogenetic and Genome Research (2018)

Federica Baldan Chiara Gnan Alessandra Franzoni Lucia Ferino Lorenzo Allegri

Mutations/deletions of the IMMP2L gene have been associated with different cognitive/behavioral disturbances, including autism spectrum disorders (ASD). The penetrance of these defects is not complete since they often are inherited from a healthy parent. Using array-CGH in a cohort of 37 ASD patients, we found 2 subjects harboring a deletion inside the IMMP2L gene. In both cases, the IMMP2L gene deletion was inherited: from a healthy mother in one case and from a dyslectic father in the other. In the latter family, the IMMP2L deletion was also detected in the patient's brother, who showed delayed language development. In a cohort of 100 normal controls, no deletions including the IMMP2L gene were observed. However, a recent meta-analysis found no association between IMMP2L deletions and ASD. Our data would indicate that deletions involving the IMMP2L gene may contribute to the development of a subgroup of cognitive/behavioral disorders.

Penetrance

10.1159/000489001

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Citations (11)

Evaluation of somatic genomic imbalances in thyroid carcinomas of follicular origin by CGH-based approaches

Minerva Endocrinology (2018)

Federica Baldan Catia Mio Lorenzo Allegri Nadia Passon Saverio Massimo Lepore

Application of distinct technologies of cancer genome analysis has provided important information for the molecular characterization of several human neoplasia, including follicular cell-derived thyroid carcinoma. Among them, comparative genomic hybridization (CGH)-based procedures have been extensively applied to evaluate genomic imbalances present in these tumours, obtaining data leading to an increase in the understanding of their complexity and diversity. In this review, after a brief overview of the most commonly used CGH-based technichs, we will describe the major results deriving from the most influential studies in the literature which used this approach to investigate the genomic aberrations of thyroid cancer cells. In most studies a small number of patients have been analyzed. Deletions and duplications at different chromosomal regions were detected in all investigated cohorts. A higher number of genomic imbalances has been detected in anaplastic or poorly differentiated thyroid carcinomas compared to well differentiated ones. Limitations in the interpretation of the results, as well the potential impact in the clinical practice are discussed. Though a quite heterogeneous picture arises from results so far available, CGH array, combined with other methodologies as well as an accurate clinical management, may offer novel opportunities for a better stratification of thyroid cancer patients.

Comparative genomic hybridization

10.23736/s0391-1977.17.02735-3

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Citations (2)

CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers

European Journal of Medical Genetics (2020)

Catia Mio Nadia Passon Federica Baldan Elisa Bregant Elisabetta Monaco

Haploinsufficiency

Proband

Comparative genomic hybridization

Speech delay

Global developmental delay

Human genetics

Monosomy

10.1016/j.ejmg.2020.103843

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Citations (15)

Levels of histone acetylation in thyroid tumors

Biochemical and Biophysical Research Communications (2011)

Cinzia Puppin Nadia Passon Elisa Lavarone Carla Di Loreto Francesco Frasca

10.1016/j.bbrc.2011.06.182

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Citations (54)

Dystonic tremor and blepharospasm in a patient with deletion of 18q

Clinical Neurology and Neurosurgery (2022)

Yan Tereshko Enrico Belgrado Christian Lettieri Nadia Passon Giuseppe Damante

Blepharospasm

10.1016/j.clineuro.2022.107549

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Citations (2)

A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome

Molecular Genetics & Genomic Medicine (2021)

Catia Mio Nadia Passon Federico Fogolari Claudia Cesario Antonio Novelli

Abstract Background Cornelia de Lange syndrome (CdLS) is a rare and clinically variable syndrome characterized by growth impairment, multi‐organ anomalies, and a typical set of facial dysmorphisms. Here we describe a 2‐year‐old female child harboring a novel de novo missense variant in HDAC8 , whose phenotypical score, according to the recent consensus on CdLS clinical diagnostic criteria, allowed the diagnosis of a non‐classic CdLS. Methods Clinical exome sequencing was performed on the trio, identifying a de novo heterozygous variant in HDAC8 (NM_018486; c. 356C>G p.Thr119Arg). Molecular modeling was performed to evaluate putative functional consequence of the HDAC8 protein. Results The variant HDAC8 c.356C>G is classified as pathogenic following the ACMG (American College of Medical Genetics and Genomics)/AMP (Association for Molecular Pathology) guidelines. By molecular modeling, we confirmed the deleterious effect of this variant, since the amino acid change compromises the conformational flexibility of the HDAC8 loop required for optimal catalytic function. Conclusion We described a novel Thr119Arg mutation in HDAC8 in a patient displaying the major phenotypic traits of the CdLS. Our results suggest that a modest change outside an active site is capable of triggering global structural changes that propagate through the protein scaffold to the catalytic site, creating de facto haploinsufficiency.

Haploinsufficiency

Medical genetics

10.1002/mgg3.1612

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Citations (5)