A5025520642- Telomeres, Telomerase, and Senescence
- Microtubule and mitosis dynamics
- DNA Repair Mechanisms
- CRISPR and Genetic Engineering
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Pancreatic function and diabetes
- Ubiquitin and proteasome pathways
- Gene Regulatory Network Analysis
- Cancer Genomics and Diagnostics
- RNA Interference and Gene Delivery
- Sarcoma Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Cancer Research and Treatments
- Prenatal Screening and Diagnostics
- Endoplasmic Reticulum Stress and Disease
- Tissue Engineering and Regenerative Medicine
- Hippo pathway signaling and YAP/TAZ
- Pluripotent Stem Cells Research
- Advanced biosensing and bioanalysis techniques
- Genetic Syndromes and Imprinting
- Genetics and Neurodevelopmental Disorders
- Carcinogens and Genotoxicity Assessment
Academy of Athens
2015-2025
Biomedical Research Foundation of the Academy of Athens
2016-2025
The University of Texas MD Anderson Cancer Center
1995-2010
Cardiff University
2010
University of Pennsylvania
2010
University Medical Center
2010
Fox Chase Cancer Center
2010
University of Geneva
2006-2008
University Hospital of Geneva
2008
Foundation for Biomedical Research
2004-2007
Scientific Report19 October 2016Open Access Transparent process Alternative lengthening of human telomeres is a conservative DNA replication with features break-induced Fani-Marlen Roumelioti Laboratory Genetics, Center Experimental Medicine and Translational Research, Biomedical Research Foundation the Academy Athens, Greece Search for more papers by this author Sotirios K Sotiriou Department Molecular Biology, University Geneva, Switzerland Vasiliki Katsini Maria Chiourea Thanos D...
E-cadherin (CDH1) loss occurs frequently in carcinogenesis, contributing to invasion and metastasis. We observed that mouse human epithelial cell lines overexpressing the replication licensing factor Cdc6 underwent phenotypic changes with mesenchymal features of E-cadherin. Analysis various types cancer revealed a strong correlation between increased expression reduced levels. Prompted by these findings, we discovered repressed CDH1 transcription binding E-boxes its promoter, leading...
Abstract The BRCA1-associated ring domain protein 1 (BARD1) interacts with BRCA1 via its RING finger domain. BARD1-BRCA1 complex participates in DNA repair, cell cycle control, genomic stability, and mitotic spindle formation through E3 ubiquitin ligase activity. Cancer cells express several BARD1 isoforms, including the finger–deficient variant BARD1β. Here, we show that has BRCA1-dependent BRCA1-independent functions mitosis. BARD1, but not BRCA1, localizes to midbody at telophase...
Abstract Background Senescence is a fundamental biological process implicated in various pathologies, including cancer. Regarding carcinogenesis, senescence signifies, at least its initial phases, an anti-tumor response that needs to be circumvented for cancer progress. Micro-RNAs, subclass of regulatory, non-coding RNAs, participate regulation. At the subcellular level micro-RNAs, similar proteins, have been shown traffic between organelles influencing cellular behavior. The differential...
Although it is clear that telomerase expression crucial for the maintenance of telomere homeostasis, there increasing evidence TERT protein can have physiological roles are independent this central function. To further examine role during vertebrate development, zebrafish reverse transcriptase (zTERT) was functionally characterized. Upon zTERT knockdown, embryos show reduced activity and viable, but develop pancytopenia resulting from aberrant hematopoiesis. The blood cell counts in...
Abstract Background Obesity in adulthood is associated with decreased leucocyte telomere length (LTL), which cardiovascular disease and diabetes mellitus type 2. The aim of our study was to investigate whether increased body mass index (BMI) LTL children adolescents, identify other risk factors shorter this population. Materials methods A cross‐sectional conducted among 919 Greek aged 9‐13 years (The Healthy Growth Study). Participants were classified as obese (n = 124), overweight 276) or...
Accurate DNA replication is essential to preserve genomic integrity and prevent chromosomal instability-associated diseases including cancer. Key this process the cells' ability stabilize restart stalled forks. Here, we show that EXD2 nuclease process. recruitment stressed forks suppresses their degradation by restraining excessive fork regression. Accordingly, deficiency leads collapse, hypersensitivity inhibitors, instability. Impeding regression inactivation of SMARCAL1 or removal RECQ1's...
Highlights•The SMUG1-DNA glycosylase promotes maturation of the telomeric DNA component, hTERC•SMUG1 regulates presence base modifications in DKC1 binding and stability hTERC•hTERC levels limit telomerase activity human SMUG1-knockout cellsSummaryTelomerase biogenesis is a complex process where several steps remain poorly understood. Single-strand-selective uracil-DNA (SMUG1) associates with DKC1-containing H/ACA ribonucleoprotein complex, which essential for biogenesis. Herein, we show that...
Abstract We report on a monochorionic/diamniotic twin pregnancy discordant for trisomy 21. Amniocentesis (at ${\rm 13}{\raise0.5ex\hbox{$\scriptstyle {\rm 5}$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle 7}$}}$ weeks) was performed following ultrasound signs of hydrops and cystic hygroma in 1 (T1). Prenatal karyotype showed non‐mosaic 21 T1 (47,XX,+21[7]), low‐grade mosaic 2 (T2) (47,XX,+21[2]/46,XX[19]). Post mortem examination fetal skin, kidneys lungs confirmed (47,XX,+21[548])...
The vertebrate RECQL4 (RECQ4) gene is thought to be the ortholog of budding yeast SLD2. However, RecQL4 contains within its C-terminus a RecQ-like helicase domain, which absent in Sld2. We established human pre-B lymphocyte Nalm-6 cells, endogenous was homozygously targeted such that entire would not expressed. RECQL4(ΔC/ΔC) cells behaved like parental during unperturbed DNA replication or after treatment with agents induce stalling forks, as hydroxyurea (HU). exposure ionizing radiation...
Human tumors using the alternative lengthening of telomeres (ALT) exert high rates telomere dysfunction. Numerical chromosomal aberrations are very frequent, and structural rearrangements widely scattered among genome. This challenging context allows study dysfunction-driven instability in neoplasia (CIN) a massive scale. We used molecular cytogenetics to achieve detailed karyotyping 10 human ALT neoplastic cell lines.We identified 518 clonal recombinant chromosomes affected by 649...
Telomere reprogramming and silencing of exogenous genes have been demonstrated in mouse human induced pluripotent stem cells (iPS cells). Pigs the potential to provide xenotransplant for humans, model test diseases. We investigated telomere length maintenance porcine iPS generated cultured under various conditions. lengths vary among different cell lines, some with elongation maintenance, others shortening. Porcine sufficient show ability differentiate vivo by teratoma formation test. IPS...
Split-hand/split-foot malformation (SHFM, also called ectrodactyly) is a clinically variable and genetically heterogeneous group of limb malformations. Several SHFM loci have been mapped, including SHFM1 (7q21), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27) SHFM5 (2q31). To date, mutations in gene (TP63) only identified for SHFM4. has shown by pulsed-field gel electrophoresis to be caused an approximately 500 kb DNA rearrangement at 10q24. This region contains number candidate genes SHFM3,...
Cell line models aid in understanding cancer aggressiveness. The aim of this study was the establishment a metastatic variant (T24M) T24 bladder cell and its initial characterization at chromosomal proteomic levels. T24M were spontaneously developed mice from cells, following cycles subcutaneous injections culture vitro. Transwell migration assays revealed increased tumorigenic properties compared to cells. Cytogenetic analysis demonstrated that retained several karyotypic characteristics...