Stavros Glentis
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View article: Assessment of the angiogenic proteins placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1) in patients with hereditary spherocytosis
Assessment of the angiogenic proteins placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1) in patients with hereditary spherocytosis Open
Background: Hereditary spherocytosis (HS) is a rare genetic disorder characterized primarily by hemolytic anemia, jaundice, splenomegaly and spherocytosis. Because of abnormalities in the coding of red blood cell (RBC) membrane skeleton pr…
View article: Diet-responsive proteogenomic effects following short-term restriction of animal products in humans
Diet-responsive proteogenomic effects following short-term restriction of animal products in humans Open
The effect of diet on genetic regulation in humans remains largely unexplored. Here, we investigated gene-by-diet interactions in a unique group of apparently healthy individuals (N=200) who alternate between omnivory and dietary restricti…
View article: Rapid remodeling of the human gut microbiome in response to short-term animal product restriction
Rapid remodeling of the human gut microbiome in response to short-term animal product restriction Open
Diet strongly influences the gut microbiome, which in turn influences health, yet the effects of dietary patterns on microbiome composition and function remain underexplored in humans. We profiled a unique group of apparently healthy indiv…
View article: Short-term animal product dietary restriction alters metabolic profiles and modulates immune function
Short-term animal product dietary restriction alters metabolic profiles and modulates immune function Open
Background Dietary interventions are powerful tools for disease prevention and health promotion, yet the molecular mechanisms by which diet influences health remain incompletely understood. Investigating the effects of diet in healthy indi…
View article: Short-term animal product restriction alters metabolic profiles and modulates immune function
Short-term animal product restriction alters metabolic profiles and modulates immune function Open
Diet shapes immune function and disease susceptibility, yet the underlying mechanisms remain poorly defined. Here, we investigated the immunometabolic effects of short-term dietary restriction of animal products in a unique group of Greek …
View article: Periodic dietary restriction of animal products induces metabolic reprogramming in humans with effects on cardiometabolic health
Periodic dietary restriction of animal products induces metabolic reprogramming in humans with effects on cardiometabolic health Open
View article: Soft Tissue Undifferentiated Sarcoma Carrying a Novel <i>Onecut1::Nutm1</i> Fusion
Soft Tissue Undifferentiated Sarcoma Carrying a Novel <i>Onecut1::Nutm1</i> Fusion Open
View article: The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece
The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece Open
Background The recently published WHO classification of central nervous system (CNS) tumours recognizes DNA methylation profiling as a desirable and, for some diagnoses, essential diagnostic tool adjunctive to conventional histopathology. …
View article: A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients Open
In the rapidly evolving field of genomics, understanding the genetic basis of complex diseases like breast cancer, particularly its familial/hereditary forms, is crucial. Current methods often examine genomic variants—such as Single Nucleo…
View article: The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review Open
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow erythroid hypoplasia, which typically presents with severe anemia within the first months of life. DBA is typically attributed to a heterozygous mutation in a ri…
View article: Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
View article: P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO ADULTHOOD; A REPORT FROM THE UPDATED GREEK REGISTRY
P798: DIAMOND BLACKFAN ANEMIA MAY ESCAPE DIAGNOSIS UP TO ADULTHOOD; A REPORT FROM THE UPDATED GREEK REGISTRY Open
Topic: 12. Bone marrow failure syndromes incl. PNH - Clinical Background: Diamond Blackfan Anemia (DBA), is a rare bone marrow failure syndrome presenting with normochromic macrocytic anemia, reticulocytopenia, significantly reduced erythr…
View article: A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome
A Novel Variant in the TP53 Gene Causing Li–Fraumeni Syndrome Open
Li–Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in the tumor protein p53 (TP53) gene and elevated risk of a broad range of early-onset malignancies. Patients with …
View article: Effects of short-term restriction of animal products on blood biomarkers and cardiovascular disease risk
Effects of short-term restriction of animal products on blood biomarkers and cardiovascular disease risk Open
Dietary interventions constitute a means of untapped potential for the prevention and management of diseases including cardiovascular disease (CVD) and inflammatory disorders. The extent to which dietary modification can contribute to dise…
View article: Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Background Expression quantitative trait loci (eQTL) studies provide insights into regulatory mechanisms underlying disease risk. Expanding studies of gene regulation to underexplored populations and to medically relevant tissues offers po…
View article: Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome Open
View article: Additional file 6 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 6 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 6. Main scripts for eQTL mapping using fastQTL.
View article: Additional file 2 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 2 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 2: Supplementary Table S1. eQTLs in GM adipose tissues. Supplementary Table S3. GenotypexObesity significant (p<0.05) interactions in GM. Supplementary Table S4. GenotypexSex significant (p<0.05) interactions in GM. Supplme…
View article: Additional file 3 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population
Additional file 3 of Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population Open
Additional file 3: Supplementary Table S17. DEGs by tissue in GM, GTEx-am and GTEx-sm. Supplementary Table S18. S vs V DEGs with discordant direction of gene expression bewteen GM and GTEx-am. Supplementary Table S19. DEGs by obesity statu…
View article: P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
P1521: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: PATH-13. Methylation analysis in the diagnosis of pediatric CNS tumors; a single center experience
PATH-13. Methylation analysis in the diagnosis of pediatric CNS tumors; a single center experience Open
BACKGROUND: Tumors of Central Nervous System (CNS) comprise major cause of cancer-related morbidity and mortality during childhood. Recent advances in genome and epigenome research allow for molecular classification of CNS tumors, treatmen…
View article: S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH
S104: A SEVERE MOUSE MODEL OF ALPHA-THALASSEMIA SHOWS ABNORMAL IRON METABOLISM, ERYTHROPOIESIS AND COAGULATION, AND CAN BE RESCUED BY A NOVEL GENE THERAPY APPROACH Open
Background: Clinical presentation of deletional a-thal varies from an asymptomatic condition (one inactivated a-globin gene) to a complete knockout (Hb Bart’s Hydrops Fetalis). In patients with severe a-thal, a blood transfusion independen…
View article: Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group Open
View article: Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group Open
View article: Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome Open
View article: Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer Open
Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over …