Lista de obras - Tommaso Mazza - Dominio Público Uruguay

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

artículo científico publicado en 2016

A Lipidomic Signature Complements Stemness Features Acquisition in Liver Cancer Cells

artículo científico publicado en 2020

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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?

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Editorial: Accelerating systems biology

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Estimating the divisibility of complex biological networks by sparseness indices

artículo científico publicado en 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Functional variants of the HMGA1 gene and type 2 diabetes mellitus

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2013

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

artículo científico publicado en 2022

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect

artículo científico publicado en 2018

High Performance Computational Systems Biology ⬇️

artículo científico publicado el 1 de mayo de 2012

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

artículo científico publicado en 2017

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.

artículo científico publicado en 2017

Identification of p53-target genes in Danio rerio

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Mirna expression profiles identify drivers in colorectal and pancreatic cancers.

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

Molecular dynamics recipes for genome research.

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Snazer: the simulations and networks analyzer

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2018

Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Taming the complexity of biological pathways through parallel computing.

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

The Relevance of Topology in Parallel Simulation of Biological Networks.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2020

Using ontologies in PROTEUS for modeling proteomics data mining applications.

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Lista de obras de 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?