List of works - Tommaso Mazza

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

scientific article published in January 2016

A Lipidomic Signature Complements Stemness Features Acquisition in Liver Cancer Cells

scientific article published on 10 November 2020

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics

scientific article published on 17 September 2019

A Role for the Biological Clock in Liver Cancer

scientific article published on 11 November 2019

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

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

scientific article published on 27 December 2019

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

scientific article published on 08 September 2018

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

scientific article published on 5 September 2017

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

A solid quality-control analysis of AB SOLiD short-read sequencing data

scientific article

Affinity analysis of differentially expressed genes in hepatocytes expressing HCV core genotype 1b or 3a.

scientific article published on 3 June 2013

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

scientific article published on 18 August 2015

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

scientific article published on 01 October 2019

Analysis of MTNR1B gene polymorphisms in relationship with IRS2 gene variants, epicardial fat thickness, glucose homeostasis and cognitive performance in the elderly.

scientific article

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.

scientific article published on 14 June 2016

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

scientific article published on 22 May 2019

Association of a homozygous GCK missense mutation with mild diabetes

scientific article published on 14 June 2019

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

scientific article published on 25 May 2018

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

scientific article published on 19 September 2018

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

scientific article published on 12 December 2019

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2

scientific article published on 01 March 2019

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

scientific article

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

scientific article published on 06 May 2019

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

scientific article published on 12 June 2019

Cyto-Sim: a formal language model and stochastic simulator of membrane-enclosed biochemical processes

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

Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome

scientific article published on 22 August 2019

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

scientific article published on February 2016

Diagnostic and Prognostic Value of B4GALT1 Hypermethylation and Its Clinical Significance as a Novel Circulating Cell-Free DNA Biomarker in Colorectal Cancer

scientific article published on 19 October 2019

Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

scientific article published on 16 September 2019

Dysregulation of EGFR Pathway in EphA2 Cell Subpopulation Significantly Associates with Poor Prognosis in Colorectal Cancer.

scientific article published on 11 July 2016

EPHRINA2 RECEPTOR IN HUMAN GLIOBLASTOMA CANCER STEM CELLS AND IDENTIFICATION OF NEW, PUTATIVE THERAPEUTIC TARGETS.

scientific article published in July 2014

Editorial: Accelerating systems biology.

scientific article published in May 2010

EphB2 stem-related and EphA2 progression-related miRNA-based networks in progressive stages of CRC evolution: clinical significance and potential miRNA drivers

scientific article published on 30 November 2018

Epigenetic Scanning of KEAP1 CpG Sites Uncovers New Molecular-Driven Patterns in Lung Adeno and Squamous Cell Carcinomas

scientific article published on 22 September 2020

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

scientific article

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

scientific article published on 17 September 2018

Estimating the divisibility of complex biological networks by sparseness indices

scientific article published on 11 January 2010

Fasting cycles potentiate the efficacy of gemcitabine treatment in in vitro and in vivo pancreatic cancer models.

scientific article

Functional Impact of Autophagy-Related Genes on the Homeostasis and Dynamics of Pancreatic Cancer Cell Lines

scientific article published on May 2015

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Functional variants of the HMGA1 gene and type 2 diabetes mellitus

scientific article published in March 2011

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

scientific article published on 11 August 2016

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

scientific article published on 17 January 2019

Genomic and physiological resilience in extreme environments are associated with a secure attachment style

scientific article published on 09 June 2020

HbA1c levels in patients with gestational diabetes mellitus: Relationship with pre-pregnancy BMI and pregnancy outcome

scientific article

Healthy and pro-inflammatory gut ecology plays a crucial role in the digestion and tolerance of a novel Gluten Friendly™ bread in celiac subjects: a randomized, double blind, placebo control <i>in vivo</i> study

scientific article published in 2022

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

scientific article published on 30 July 2018

High performance computational systems biology

scientific article published on 01 May 2012

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

scientific article

Histone variant macroH2A1 rewires carbohydrate and lipid metabolism of hepatocellular carcinoma cells towards cancer stem cells

scientific article published on 29 September 2018

Hsa-miR-210-3p expression in breast cancer and its putative association with worse outcome in patients treated with Docetaxel

scientific article published on 17 October 2019

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

Identification of p53-target genes in Danio rerio

scientific article published on September 2016

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

article

Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study

scientific article published on 31 July 2020

Induction of cancer cell stemness by depletion of macrohistone H2A1 in hepatocellular carcinoma.

scientific article

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

scientific article published on 27 August 2014

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

scientific article published on December 2016

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

scientific article published on 9 October 2017

Loss of histone macroH2A1 in hepatocellular carcinoma cells promotes paracrine-mediated chemoresistance and CD4+CD25+FoxP3+ regulatory T cells activation

scientific article published on 01 January 2020

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

scientific journal article

Metabolomic profile in pancreatic cancer patients: a consensus-based approach to identify highly discriminating metabolites

scientific article published on 31 December 2015

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater's papilla adenocarcinoma.

scientific article

Mining potentially actionable kinase gene fusions in cancer cell lines with the KuNG FU database

scientific article published on 30 November 2020

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

scientific article

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

scientific article published on 17 December 2014

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

scientific article published on 01 November 2019

Molecular dynamics recipes for genome research.

scientific article published on 18 February 2017

Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults

article

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

scientific article

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

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects

scientific article published on 24 November 2021

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

scientific article published on 19 December 2020

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

scientific article published on 25 November 2019

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

scientific article published on 10 February 2018

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

scientific article

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation

scientific article published on 22 November 2019

Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

scientific article published on 3 March 2017

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

scientific article published on January 2014

Snazer: the simulations and networks analyzer

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

Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role

scientific article published on 09 June 2018

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

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

article

TMS follow-up study in patients with vascular cognitive impairment-no dementia.

scientific article

TRIM8 interacts with KIF11 and KIFC1 and controls bipolar spindle formation and chromosomal stability

scientific article published on 02 January 2020

TRIM8-driven transcriptomic profile of neural stem cells identified glioma-related nodal genes and pathways

scientific article published on 05 December 2018

Taming the complexity of biological pathways through parallel computing.

scientific article published in April 2009

The Biological Clock: A Pivotal Hub in Non-alcoholic Fatty Liver Disease Pathogenesis.

scientific article

The Low Density Matter (LDM) beamline at FERMI: optical layout and first commissioning

scientific article published on 21 April 2015

The Relevance of Topology in Parallel Simulation of Biological Networks.

scientific article published on 30 January 2012

The association of variants in PNPLA3 and GRP78 and the risk of developing hepatocellular carcinoma in an Italian population

scientific article

The biological clock and the molecular basis of lysosomal storage diseases.

scientific article published on 13 January 2015

The striatal-enriched protein Rhes is a critical modulator of cocaine-induced molecular and behavioral responses

scientific article published on 25 October 2019

Transcriptome and Gene Fusion Analysis of Synchronous Lesions Reveals lncMRPS31P5 as a Novel Transcript Involved in Colorectal Cancer

scientific article published on 27 September 2020

Using ontologies in PROTEUS for modeling proteomics data mining applications.

scientific article

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation.

scientific article published on 2 June 2016

Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells

scientific article published on 23 December 2016

microRNA-mRNA network model in patients with achalasia

scientific article published on 26 November 2019

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

List of works by Tommaso Mazza

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

A Lipidomic Signature Complements Stemness Features Acquisition in Liver Cancer Cells

A Multi-Layered Study on Harmonic Oscillations in Mammalian Genomics and Proteomics

A Role for the Biological Clock in Liver Cancer

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

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

A novel mutation in CDH11 , encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome

A primary tumor gene expression signature identifies a crucial role played by tumor stroma myofibroblasts in lymph node involvement in oral squamous cell carcinoma

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

A solid quality-control analysis of AB SOLiD short-read sequencing data

Affinity analysis of differentially expressed genes in hepatocytes expressing HCV core genotype 1b or 3a.

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

Agenesis of the putamen and globus pallidus caused by recessive mutations in the homeobox gene GSX2

Analysis of MTNR1B gene polymorphisms in relationship with IRS2 gene variants, epicardial fat thickness, glucose homeostasis and cognitive performance in the elderly.

Analysis of clock gene-miRNA correlation networks reveals candidate drivers in colorectal cancer.

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

Association of a homozygous GCK missense mutation with mild diabetes

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

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

COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap

Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2

Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes

Cyto-Sim: a formal language model and stochastic simulator of membrane-enclosed biochemical processes

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

Deficiency and haploinsufficiency of histone macroH2A1.1 in mice recapitulate hematopoietic defects of human myelodysplastic syndrome

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

Diagnostic and Prognostic Value of B4GALT1 Hypermethylation and Its Clinical Significance as a Novel Circulating Cell-Free DNA Biomarker in Colorectal Cancer

Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy

Dysregulation of EGFR Pathway in EphA2 Cell Subpopulation Significantly Associates with Poor Prognosis in Colorectal Cancer.

EPHRINA2 RECEPTOR IN HUMAN GLIOBLASTOMA CANCER STEM CELLS AND IDENTIFICATION OF NEW, PUTATIVE THERAPEUTIC TARGETS.

Editorial: Accelerating systems biology.

EphB2 stem-related and EphA2 progression-related miRNA-based networks in progressive stages of CRC evolution: clinical significance and potential miRNA drivers

Epigenetic Scanning of KEAP1 CpG Sites Uncovers New Molecular-Driven Patterns in Lung Adeno and Squamous Cell Carcinomas

Epigenetically induced ectopic expression of UNCX impairs the proliferation and differentiation of myeloid cells

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

Estimating the divisibility of complex biological networks by sparseness indices

Fasting cycles potentiate the efficacy of gemcitabine treatment in in vitro and in vivo pancreatic cancer models.

Functional Impact of Autophagy-Related Genes on the Homeostasis and Dynamics of Pancreatic Cancer Cell Lines

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Functional variants of the HMGA1 gene and type 2 diabetes mellitus

Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia

Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

Genomic and physiological resilience in extreme environments are associated with a secure attachment style

HbA1c levels in patients with gestational diabetes mellitus: Relationship with pre-pregnancy BMI and pregnancy outcome

Healthy and pro-inflammatory gut ecology plays a crucial role in the digestion and tolerance of a novel Gluten Friendly™ bread in celiac subjects: a randomized, double blind, placebo control <i>in vivo</i> study

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

High performance computational systems biology

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

Histone variant macroH2A1 rewires carbohydrate and lipid metabolism of hepatocellular carcinoma cells towards cancer stem cells

Hsa-miR-210-3p expression in breast cancer and its putative association with worse outcome in patients treated with Docetaxel

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

Identification of p53-target genes in Danio rerio

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

Incidence and prevalence of Huntington disease (HD) in the Sultanate of Oman: the first Middle East post-HTT service-based study

Induction of cancer cell stemness by depletion of macrohistone H2A1 in hepatocellular carcinoma.

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

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

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

Loss of histone macroH2A1 in hepatocellular carcinoma cells promotes paracrine-mediated chemoresistance and CD4+CD25+FoxP3+ regulatory T cells activation

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

Metabolomic profile in pancreatic cancer patients: a consensus-based approach to identify highly discriminating metabolites

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater's papilla adenocarcinoma.

Mining potentially actionable kinase gene fusions in cancer cell lines with the KuNG FU database

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

MitImpact: an exhaustive collection of pre-computed pathogenicity predictions of human mitochondrial non-synonymous variants.

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

Molecular dynamics recipes for genome research.

Mono-ADP-Ribosylhydrolase MACROD2 Is Dispensable for Murine Responses to Metabolic and Genotoxic Insults

Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Nociceptin/orphanin FQ opioid receptor (NOP) selective ligand MCOPPB links anxiolytic and senolytic effects

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

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