Search Results - "Angius, Andrea"
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1
DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy
ISSN: 2041-1723, 2041-1723Published: London Nature Publishing Group UK 04.08.2016Published in Nature communications (04.08.2016)“…Methylation at 5-cytosine (5-mC) is a fundamental epigenetic DNA modification associated recently with cardiac disease. In contrast, the role of…”
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2
Genetic variants regulating immune cell levels in health and disease
ISSN: 1097-4172, 1097-4172Published: United States 26.09.2013Published in Cell (26.09.2013)“…The complex network of specialized cells and molecules in the immune system has evolved to defend against pathogens, but inadvertent immune system attacks on…”
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3
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
ISSN: 1553-7404, 1553-7390, 1553-7404Published: United States Public Library of Science 01.07.2015Published in PLoS genetics (01.07.2015)“…DNA sequencing identifies common and rare genetic variants for association studies, but studies typically focus on variants in nuclear DNA and ignore the…”
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4
Assessing the Predictive Power of the Hemoglobin/Red Cell Distribution Width Ratio in Cancer: A Systematic Review and Future Directions
ISSN: 1648-9144, 1010-660X, 1648-9144Published: Switzerland MDPI AG 01.12.2023Published in Medicina (Kaunas, Lithuania) (01.12.2023)“…Background and Objectives: The hemoglobin (Hb)/red cell distribution width (RDW) ratio has emerged as an accessible, repeatable, and inexpensive prognostic…”
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5
Loss of Mismatched HLA in Leukemia after Stem-Cell Transplantation
ISSN: 0028-4793, 1533-4406, 1533-4406Published: Waltham, MA Massachusetts Medical Society 30.07.2009Published in The New England journal of medicine (30.07.2009)“…Five patients with acute myelogenous leukemia received hematopoietic stem-cell transplants from a haploidentical donor. They also received T cells from the…”
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6
The Changing Landscape of Naive T Cell Receptor Repertoire With Human Aging
ISSN: 1664-3224, 1664-3224Published: Switzerland Frontiers Media S.A 24.07.2018Published in Frontiers in immunology (24.07.2018)“…Human aging is associated with a profound loss of thymus productivity, yet naïve T lymphocytes still maintain their numbers by division in the periphery for…”
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Biomarker dynamics affecting neoadjuvant therapy response and outcome of HER2-positive breast cancer subtype
ISSN: 2045-2322, 2045-2322Published: London Nature Publishing Group UK 08.08.2023Published in Scientific reports (08.08.2023)“…HER2+ breast cancer (BC) is an aggressive subtype genetically and biologically heterogeneous. We evaluate the predictive and prognostic role of HER2…”
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A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
ISSN: 1932-6203, 1932-6203Published: United States Public Library of Science 16.12.2013Published in PloS one (16.12.2013)“…Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only…”
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9
Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset
ISSN: 1664-3224, 1664-3224Published: Switzerland Frontiers Media SA 02.04.2024Published in Frontiers in immunology (02.04.2024)“…Gene co-expression network analysis enables identification of biologically meaningful clusters of co-regulated genes (modules) in an unsupervised manner. We…”
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Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma
ISSN: 2045-2322, 2045-2322Published: London Nature Publishing Group UK 16.01.2020Published in Scientific reports (16.01.2020)“…We focused on an integrated view of genomic changes in Colorectal cancer (CRC) and distant normal colon tissue (NTC) to test the effectiveness of expression…”
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A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy
ISSN: 1471-2415, 1471-2415Published: London BioMed Central 23.07.2024Published in BMC ophthalmology (23.07.2024)“…Background Usher syndrome (USH) encompasses a group of disorders characterized by congenital sensorineural hearing loss (SNHL) and retinitis pigmentosa (RP)…”
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12
Population Genomic Analysis of Ancient and Modern Genomes Yields New Insights into the Genetic Ancestry of the Tyrolean Iceman and the Genetic Structure of Europe
ISSN: 1553-7404, 1553-7390, 1553-7404Published: United States Public Library of Science 01.05.2014Published in PLoS genetics (01.05.2014)“…Genome sequencing of the 5,300-year-old mummy of the Tyrolean Iceman, found in 1991 on a glacier near the border of Italy and Austria, has yielded new insights…”
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13
Harnessing Minimal Residual Disease as a Predictor for Colorectal Cancer: Promising Horizons Amidst Challenges
ISSN: 1648-9144, 1010-660X, 1648-9144Published: Switzerland MDPI AG 01.10.2023Published in Medicina (Kaunas, Lithuania) (01.10.2023)“…Minimal Residual Disease (MRD) detection has emerged as an independent factor in clinical and pathological cancer assessment offering a highly effective method…”
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14
Environmental and Genetic Contribution to Hypertension Prevalence: Data from an Epidemiological Survey on Sardinian Genetic Isolates
ISSN: 1932-6203, 1932-6203Published: United States Public Library of Science 20.03.2013Published in PloS one (20.03.2013)“…Hypertension represents a major cause of cardiovascular morbidity and mortality worldwide but its prevalence has been shown to vary in different countries. The…”
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A Portrait of Intratumoral Genomic and Transcriptomic Heterogeneity at Single-Cell Level in Colorectal Cancer
ISSN: 1648-9144, 1010-660X, 1648-9144Published: Basel MDPI AG 17.11.2021Published in Medicina (Kaunas, Lithuania) (17.11.2021)“…In the study of cancer, omics technologies are supporting the transition from traditional clinical approaches to precision medicine. Intra-tumoral…”
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Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
ISSN: 1471-2350, 1471-2350Published: London BioMed Central 14.01.2019Published in BMC medical genetics (14.01.2019)“…Background KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings,…”
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A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
ISSN: 1434-5161, 1435-232XPublished: England Nature Publishing Group 01.02.2017Published in Journal of human genetics (01.02.2017)“…The increased risk for autosomal recessive disorders is one of the most well-known medical implications of consanguinity. In the Sultanate of Oman, a country…”
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Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
ISSN: 1553-7404, 1553-7390, 1553-7404Published: United States Public Library of Science 01.09.2015Published in PLoS genetics (01.09.2015)Get full text
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19
High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis
ISSN: 1932-6203, 1932-6203Published: United States Public Library of Science 27.02.2009Published in PloS one (27.02.2009)“…To better design association studies for complex traits in isolated populations it's important to understand how history and isolation moulded the genetic…”
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20
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
ISSN: 1434-5161, 1435-232XPublished: 01.02.2017Published in Journal of human genetics (01.02.2017)Get full text
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