Lista de obras - Davide Cittaro - Dominio Público Uruguay

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells

artículo científico publicado en 2013

A novel genomic inversion in Wiskott-Aldrich-associated autoinflammation

artículo científico publicado en 2016

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

artículo científico publicado en 2019

A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.

artículo científico publicado en 2013

Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequences

artículo científico publicado en 2018

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

artículo científico publicado en 2013

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

scientific article published on 12 August 2019

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

artículo científico publicado en 2015

CARPET: a web-based package for the analysis of ChIP-chip and expression tiling data

artículo científico publicado en 2008

Characterization of human mitochondrial ferritin promoter: identification of transcription factors and evidences of epigenetic control

artículo científico publicado en 2016

Chromas from chromatin: sonification of the epigenome.

artículo científico publicado en 2016

Conserved DNA Methylation Signatures in Early Maternal Separation and in Twins Discordant for CO2 Sensitivity

artículo científico publicado en 2018

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

artículo científico publicado en 2019

Efficient gene editing of human long-term hematopoietic stem cells validated by clonal tracking

artículo científico publicado en 2020

Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model

artículo científico publicado en 2015

Erratum: Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation

article

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

artículo científico publicado en 2015

FAM46C and FNDC3A are multiple myeloma tumor suppressors that act in concert to impair clearing of protein aggregates and autophagy

scientific article published on 22 September 2020

Fast analysis of scATAC-seq data using a predefined set of genomic regions

artículo científico publicado en 2020

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

artículo científico publicado en 2014

Genome-wide mapping of human DNA-replication origins: levels of transcription at ORC1 sites regulate origin selection and replication timing.

artículo científico publicado en 2012

Graph-based identification of cancer signaling pathways from published gene expression signatures using PubLiME

artículo científico publicado en 2007

H3K4me3 demethylation by the histone demethylase KDM5C/JARID1C promotes DNA replication origin firing

artículo científico publicado en 2015

Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes

artículo científico publicado en 2016

Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer

artículo científico publicado en 2015

Immune signature drives leukemia escape and relapse after hematopoietic cell transplantation

scientific article published on 25 March 2019

In silico prediction and experimental validation of natural antisense transcripts in two cancer-associated regions of human chromosome 6.

artículo científico publicado en 2009

Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing

artículo científico publicado en 2016

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

artículo científico publicado en 2019

Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma

artículo científico publicado en 2013

Interferon gene therapy reprograms the leukemia microenvironment inducing protective immunity to multiple tumor antigens

artículo científico publicado en 2018

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

artículo científico publicado en 2016

Lentiviral vectors escape innate sensing but trigger p53 in human hematopoietic stem and progenitor cells.

artículo científico publicado en 2017

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells

artículo científico publicado en 2016

Mycobacterium alsense sp. nov., a scotochromogenic slow grower isolated from clinical respiratory specimens.

artículo científico publicado en 2015

Mycobacterium angelicum sp. nov., a non-chromogenic, slow-growing species isolated from fish and related to Mycobacterium szulgai.

artículo científico publicado en 2015

Mycobacterium celeriflavum sp. nov., a rapidly growing scotochromogenic bacterium isolated from clinical specimens

artículo científico publicado en 2014

Peptide Identification Using Vectors of Small Fragment Ions

artículo científico publicado en 2005

Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

artículo científico publicado en 2016

REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation.

artículo científico publicado en 2015

Recombinant protein quality evaluation: proposal for a minimal information standard

artículo científico publicado en 2011

Release of paused RNA polymerase II at specific loci favors DNA double-strand-break formation and promotes cancer translocations

artículo científico publicado en 2019

Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks

artículo científico publicado en 2016

Sequence tag scanning: a new explorative strategy for recognition of unexpected protein alterations by nanoelectrospray ionization-tandem mass spectrometry

artículo científico publicado en 2005

Splicy: a web-based tool for the prediction of possible alternative splicing events from Affymetrix probeset data

artículo científico publicado en 2007

Structural Analysis of Multiprotein Complexes by Cross-linking, Mass Spectrometry, and Database Searching

article

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

artículo científico publicado en 2019

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

article

Targeting Macrophages Sensitizes Chronic Lymphocytic Leukemia to Apoptosis and Inhibits Disease Progression

artículo científico publicado en 2016

Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation

artículo científico publicado en 2012

The BioMart community portal: an innovative alternative to large, centralized data repositories

artículo científico publicado en 2015

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

artículo científico publicado en 2010

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

artículo científico publicado en 2015

Transcription factor binding sites are genetic determinants of retroviral integration in the human genome

artículo científico publicado en 2009

Tumor suppressor PNRC1 blocks rRNA maturation by recruiting the decapping complex to the nucleolus

scientific article published on 29 October 2018

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

artículo científico publicado en 2016

Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report

artículo científico publicado en 2016

miR-17∼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling

scientific article published on 05 December 2016

miRNA-126 Orchestrates an Oncogenic Program in B Cell Precursor Acute Lymphoblastic Leukemia

artículo científico publicado en 2016

Lista de obras de Davide Cittaro

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells

A novel genomic inversion in Wiskott-Aldrich-associated autoinflammation

A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

A strong anti-inflammatory signature revealed by liver transcription profiling of Tmprss6-/- mice.

Amino acid deprivation triggers a novel GCN2-independent response leading to the transcriptional reactivation of non-native DNA sequences

An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein

Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

CARPET: a web-based package for the analysis of ChIP-chip and expression tiling data

Characterization of human mitochondrial ferritin promoter: identification of transcription factors and evidences of epigenetic control

Chromas from chromatin: sonification of the epigenome.

Conserved DNA Methylation Signatures in Early Maternal Separation and in Twins Discordant for CO2 Sensitivity

Corrigendum: Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.

Efficient gene editing of human long-term hematopoietic stem cells validated by clonal tracking

Epigenomics of Neural Cells: REST-Induced Down- and Upregulation of Gene Expression in a Two-Clone PC12 Cell Model

Erratum: Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation

Exome sequencing and pathway analysis for identification of genetic variability relevant for bronchopulmonary dysplasia (BPD) in preterm newborns: A pilot study

FAM46C and FNDC3A are multiple myeloma tumor suppressors that act in concert to impair clearing of protein aggregates and autophagy

Fast analysis of scATAC-seq data using a predefined set of genomic regions

Genome wide identification of aberrant alternative splicing events in myotonic dystrophy type 2.

Genome-wide mapping of human DNA-replication origins: levels of transcription at ORC1 sites regulate origin selection and replication timing.

Graph-based identification of cancer signaling pathways from published gene expression signatures using PubLiME

H3K4me3 demethylation by the histone demethylase KDM5C/JARID1C promotes DNA replication origin firing

Histone Modifications in a Mouse Model of Early Adversities and Panic Disorder: Role for Asic1 and Neurodevelopmental Genes

Histone demethylase JARID1C inactivation triggers genomic instability in sporadic renal cancer

Immune signature drives leukemia escape and relapse after hematopoietic cell transplantation

In silico prediction and experimental validation of natural antisense transcripts in two cancer-associated regions of human chromosome 6.

Inheritable Silencing of Endogenous Genes by Hit-and-Run Targeted Epigenetic Editing

Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.

Integrated genomic analysis identifies recurrent mutations and evolution patterns driving the initiation and progression of follicular lymphoma

Interferon gene therapy reprograms the leukemia microenvironment inducing protective immunity to multiple tumor antigens

Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.

Lentiviral vectors escape innate sensing but trigger p53 in human hematopoietic stem and progenitor cells.

MicroRNA-222 regulates muscle alternative splicing through Rbm24 during differentiation of skeletal muscle cells

Mycobacterium alsense sp. nov., a scotochromogenic slow grower isolated from clinical respiratory specimens.

Mycobacterium angelicum sp. nov., a non-chromogenic, slow-growing species isolated from fish and related to Mycobacterium szulgai.

Mycobacterium celeriflavum sp. nov., a rapidly growing scotochromogenic bacterium isolated from clinical specimens

Peptide Identification Using Vectors of Small Fragment Ions

Performance comparison of two commercial human whole-exome capture systems on formalin-fixed paraffin-embedded lung adenocarcinoma samples.

REST-Governed Gene Expression Profiling in a Neuronal Cell Model Reveals Novel Direct and Indirect Processes of Repression and Up-Regulation.

Recombinant protein quality evaluation: proposal for a minimal information standard

Release of paused RNA polymerase II at specific loci favors DNA double-strand-break formation and promotes cancer translocations

Revealing the acute asthma ignorome: characterization and validation of uninvestigated gene networks

Sequence tag scanning: a new explorative strategy for recognition of unexpected protein alterations by nanoelectrospray ionization-tandem mass spectrometry

Splicy: a web-based tool for the prediction of possible alternative splicing events from Affymetrix probeset data

Structural Analysis of Multiprotein Complexes by Cross-linking, Mass Spectrometry, and Database Searching

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies

Targeting Macrophages Sensitizes Chronic Lymphocytic Leukemia to Apoptosis and Inhibits Disease Progression

Telomeric DNA damage is irreparable and causes persistent DNA-damage-response activation

The BioMart community portal: an innovative alternative to large, centralized data repositories

The MIS12 complex is a protein interaction hub for outer kinetochore assembly

The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Transcription factor binding sites are genetic determinants of retroviral integration in the human genome

Tumor suppressor PNRC1 blocks rRNA maturation by recruiting the decapping complex to the nucleolus

Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations.

Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report

miR-17∼92 family clusters control iNKT cell ontogenesis via modulation of TGF-β signaling

miRNA-126 Orchestrates an Oncogenic Program in B Cell Precursor Acute Lymphoblastic Leukemia