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List of works by Tommaso Mazza

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Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

scientific article
Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools

scientific article published on March 15, 2013
Functional variants of the HMGA1 gene and type 2 diabetes mellitus

scientific article published in March 2011
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

scientific article published on 30 May 2015
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

scientific journal article
SIRT1-metabolite binding histone macroH2A1.1 protects hepatocytes against lipid accumulation

scientific article published on January 2014
Metabolomic profile in pancreatic cancer patients: a consensus-based approach to identify highly discriminating metabolites

scientific article published on 31 December 2015
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

scientific article published on 5 May 2014
Fasting cycles potentiate the efficacy of gemcitabine treatment in in vitro and in vivo pancreatic cancer models.

scientific article
DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progression

scientific article published on 15 January 2016
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016
MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants

scientific article published on 17 December 2014
Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells

scientific article published on 23 December 2016
TMS follow-up study in patients with vascular cognitive impairment-no dementia.

scientific article
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017
Induction of cancer cell stemness by depletion of macrohistone H2A1 in hepatocellular carcinoma.

scientific article
Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

scientific article published on 19 September 2018
Snazer: the simulations and networks analyzer

scientific article
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article
Stepwise analysis of MIR9 loci identifies miR-9-5p to be involved in Oestrogen regulated pathways in breast cancer patients

scientific article published on 27 March 2017
Dysregulation of EGFR Pathway in EphA2 Cell Subpopulation Significantly Associates with Poor Prognosis in Colorectal Cancer.

scientific article published on 11 July 2016
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

scientific article
Development of a metabolites risk score for one-year mortality risk prediction in pancreatic adenocarcinoma patients

scientific article published on February 2016
The Biological Clock: A Pivotal Hub in Non-alcoholic Fatty Liver Disease Pathogenesis

scientific article
High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE

scientific article
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

scientific article published on 27 August 2014
Cyto-Sim: a formal language model and stochastic simulator of membrane-enclosed biochemical processes

scientific article
A modular end-station for atomic, molecular, and cluster science at the low density matter beamline of FERMI@Elettra

Age-related obesity and type 2 diabetes dysregulate neuronal associated genes and proteins in humans

scientific article published on 18 August 2015
Histone variant macroH2A1 rewires carbohydrate and lipid metabolism of hepatocellular carcinoma cells towards cancer stem cells

scientific article published on 29 September 2018
The Low Density Matter (LDM) beamline at FERMI: optical layout and first commissioning

scientific article published on 21 April 2015
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion

scientific article published on 24 September 2018
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016
Taming the complexity of biological pathways through parallel computing.

scientific article published in April 2009
TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

scientific article published on 05 December 2018
HbA1c levels in patients with gestational diabetes mellitus: Relationship with pre-pregnancy BMI and pregnancy outcome

scientific article
Systematic Analysis of Mouse Genome Reveals Distinct Evolutionary and Functional Properties Among Circadian and Ultradian Genes

article
Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant

article
Inflammatory Bowel Disease Meets Systems Biology: A Multi-Omics Challenge and Frontier.

scientific article published on December 2016
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

scientific article published on 02 January 2019
Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

scientific article published on 17 September 2018
The association of variants in PNPLA3 and GRP78 and the risk of developing hepatocellular carcinoma in an Italian population

scientific article
Identification of p53-target genes in Danio rerio

scientific article published on September 2016
Molecular dynamics recipes for genome research.

scientific article published on 18 February 2017
A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

scientific article published in January 2016
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.

scientific article published on 16 December 2015
A solid quality-control analysis of AB SOLiD short-read sequencing data

scientific article
Estimating the divisibility of complex biological networks by sparseness indices

scientific article published on 11 January 2010
Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults

article
Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes

scientific article published on 9 October 2017

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