Lista de obras - Ignazio Stefano Piras - Dominio Público Uruguay

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

artículo científico publicado en 2016

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

artículo científico publicado en 2017

A gradient of NOS1 overproduction alleles in European and Mediterranean populations

artículo científico publicado en 2010

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

scientific article published on 01 July 2018

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

artículo científico publicado en 2013

AEBP1 expression increases with severity of fibrosis in NASH and is regulated by glucose, palmitate, and miR-372-3p

scientific article published on 12 July 2019

Adenosine triphosphate Binding Cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

artículo científico publicado en 2020

Analysis of 31 STR loci in the genetic isolate of Carloforte (Sardinia, Italy) ⬇️

artículo científico publicado el 1 de septiembre de 2009

Anti-brain antibodies are associated with more severe cognitive and behavioral profiles in Italian children with Autism Spectrum Disorder.

artículo científico publicado en 2014

Association of AEBP1 and NRN1 RNA expression with Alzheimer's disease and neurofibrillary tangle density in middle temporal gyrus

artículo científico publicado en 2019

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.

artículo científico publicado en 2018

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

artículo científico publicado en 2014

Chemokine ligand 20 (CCL20) expression increases with NAFLD stage and hepatic stellate cell activation and is regulated by miR-590-5p

scientific article published on 25 July 2019

Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers

artículo científico publicado en 2019

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.

artículo científico

Dopaminergic gene methylation is associated with cognitive performance in a childhood monozygotic twin study

scientific article published on 16 March 2019

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

artículo científico publicado en 2017

Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations

artículo científico publicado en 2008

Frequency of hemochromatosis gene (HFE) mutations in Corsica (France)

scientific article published on 01 September 2007

Gene Signatures Distinguish Stage-Specific Prostate Cancer Stem Cells Isolated From Transgenic Adenocarcinoma of the Mouse Prostate Lesions and Predict the Malignancy of Human Tumors ⬇️

artículo científico publicado el 24 de julio de 2013

Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms

artículo científico publicado en 2005

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection ⬇️

artículo científico publicado el 25 de abril de 2012

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

artículo científico publicado en 2014

Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock

artículo científico publicado en 2012

Harsh Parenting Predicts Novel HPA Receptor Gene Methylation and NR3C1 Methylation Predicts Cortisol Daily Slope in Middle Childhood

artículo científico publicado en 2020

High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis

artículo científico publicado en 2009

High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France)

artículo científico publicado en 2008

Hippocampal Transcriptomic Profiles: Subfield Vulnerability to Age and Cognitive Impairment

artículo científico publicado en 2017

Human CHIT1 gene distribution: new data from Mediterranean and European populations

artículo científico publicado en 2006

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study

artículo científico publicado en 2020

Maternal choline supplementation ameliorates Alzheimer's disease pathology by reducing brain homocysteine levels across multiple generations

scientific article published on 08 January 2019

Necroptosis activation in Alzheimer's disease

artículo científico publicado en 2017

Pattern of gene expression in different stages of schizophrenia: Down-regulation of NPTX2 gene revealed by a meta-analysis of microarray datasets.

artículo científico publicado en 2017

Peripheral Biomarkers in Schizophrenia: A Meta-Analysis of Microarray Gene Expression Datasets

scientific article published on 01 March 2019

Population genetic data on four STR loci, PAI (CA)n, GpIIIa (CT)n, PLAT (TG)14 (CA)12, and NOS2A (CCTTT)n, in Mediterranean populations

artículo científico publicado en 2007

Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

artículo científico publicado en 2015

Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).

artículo científico publicado en 2005

Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders

artículo científico publicado en 2016

Selective neutrality analysis of 17 STRs in Mediterranean populations

artículo científico publicado en 2010

Tenascin-C Protects Cancer Stem-like Cells from Immune Surveillance by Arresting T-cell Activation.

artículo científico publicado en 2015

The proneural gene ASCL1 governs the transcriptional subgroup affiliation in glioblastoma stem cells by directly repressing the mesenchymal gene NDRG1

artículo científico publicado en 2018

Transcriptome Changes in the Alzheimer's Disease Middle Temporal Gyrus: Importance of RNA Metabolism and Mitochondria-Associated Membrane Genes

scientific article published on 01 January 2019

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

scientific article published on 24 June 2019

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway

artículo científico publicado en 2017

Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

artículo científico publicado en 2016

miR-135a Inhibits Cancer Stem Cell-Driven Medulloblastoma Development by Directly Repressing Arhgef6 Expression

artículo científico publicado en 2015

Lista de obras de Ignazio Stefano Piras

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

A gradient of NOS1 overproduction alleles in European and Mediterranean populations

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype

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

AEBP1 expression increases with severity of fibrosis in NASH and is regulated by glucose, palmitate, and miR-372-3p

Adenosine triphosphate Binding Cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

Analysis of 31 STR loci in the genetic isolate of Carloforte (Sardinia, Italy) ⬇️

Anti-brain antibodies are associated with more severe cognitive and behavioral profiles in Italian children with Autism Spectrum Disorder.

Association of AEBP1 and NRN1 RNA expression with Alzheimer's disease and neurofibrillary tangle density in middle temporal gyrus

Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.

BAT2 and BAT3 polymorphisms as novel genetic risk factors for rejection after HLA-related SCT

Chemokine ligand 20 (CCL20) expression increases with NAFLD stage and hepatic stellate cell activation and is regulated by miR-590-5p

Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.

Dopaminergic gene methylation is associated with cognitive performance in a childhood monozygotic twin study

Exploring genome-wide DNA methylation patterns in Aicardi syndrome.

Frequencies of promoter pentanucleotide (TTTTA)n of CYP11A gene in European and North African populations

Frequency of hemochromatosis gene (HFE) mutations in Corsica (France)

Gene Signatures Distinguish Stage-Specific Prostate Cancer Stem Cells Isolated From Transgenic Adenocarcinoma of the Mouse Prostate Lesions and Predict the Malignancy of Human Tumors ⬇️

Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms

Genome-wide scan with nearly 700 000 SNPs in two Sardinian sub-populations suggests some regions as candidate targets for positive selection ⬇️

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

Haplotype affinities resolve a major component of goat (Capra hircus) MtDNA D-loop diversity and reveal specific features of the Sardinian stock

Harsh Parenting Predicts Novel HPA Receptor Gene Methylation and NR3C1 Methylation Predicts Cortisol Daily Slope in Middle Childhood

High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis

High frequencies of short alleles of NOS1 (CA)n polymorphism in beta(0)39 carriers from Corsica Island (France)

Hippocampal Transcriptomic Profiles: Subfield Vulnerability to Age and Cognitive Impairment

Human CHIT1 gene distribution: new data from Mediterranean and European populations

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study

Maternal choline supplementation ameliorates Alzheimer's disease pathology by reducing brain homocysteine levels across multiple generations

Necroptosis activation in Alzheimer's disease

Pattern of gene expression in different stages of schizophrenia: Down-regulation of NPTX2 gene revealed by a meta-analysis of microarray datasets.

Peripheral Biomarkers in Schizophrenia: A Meta-Analysis of Microarray Gene Expression Datasets

Population genetic data on four STR loci, PAI (CA)n, GpIIIa (CT)n, PLAT (TG)14 (CA)12, and NOS2A (CCTTT)n, in Mediterranean populations

Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes.

Prevalence of genetic risk factors for coronary artery disease in Corsica island (France).

Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders

Selective neutrality analysis of 17 STRs in Mediterranean populations

Tenascin-C Protects Cancer Stem-like Cells from Immune Surveillance by Arresting T-cell Activation.

The proneural gene ASCL1 governs the transcriptional subgroup affiliation in glioblastoma stem cells by directly repressing the mesenchymal gene NDRG1

Transcriptome Changes in the Alzheimer's Disease Middle Temporal Gyrus: Importance of RNA Metabolism and Mitochondria-Associated Membrane Genes

Two additional males with X-linked, syndromic mental retardation carry de novo mutations in HNRNPH2

Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathway

Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

miR-135a Inhibits Cancer Stem Cell-Driven Medulloblastoma Development by Directly Repressing Arhgef6 Expression