A5006409961- Prenatal Screening and Diagnostics
- Genetic Syndromes and Imprinting
- Hydrology and Watershed Management Studies
- Epigenetics and DNA Methylation
- Renal and related cancers
- Groundwater flow and contamination studies
- Pregnancy and preeclampsia studies
- Genetic Neurodegenerative Diseases
- Flood Risk Assessment and Management
- Water Systems and Optimization
- Birth, Development, and Health
- RNA regulation and disease
- RNA Research and Splicing
- Reproductive System and Pregnancy
- Cutaneous Melanoma Detection and Management
- Urban Stormwater Management Solutions
- Signaling Pathways in Disease
- Hydrology and Drought Analysis
- Connective tissue disorders research
- Urban Heat Island Mitigation
- Protein Tyrosine Phosphatases
- Congenital heart defects research
- Moyamoya disease diagnosis and treatment
- Cleft Lip and Palate Research
- Therapeutic Uses of Natural Elements
University College London
2014-2024
Cyprus University of Technology
2024
Great Ormond Street Hospital
2018-2022
The Francis Crick Institute
2022
University of Siena
2021
Azienda Ospedaliera Universitaria Senese
2021
Institute of Child Health
2019
Ministry of Agriculture, Natural Resources and Environment
2017
Imperial College London
2014-2015
Abstract. Floods are one of the most common natural disasters worldwide, leading to economic losses and loss human lives. This paper highlights hydrological effects multi-temporal land use changes in flood hazard within Yialias catchment area, located central Cyprus. A calibrated model was firstly developed describe processes internal basin dynamics three major subbasins, order study diachronic changes. For implementation model, use, soil hydrometeorological data were incorporated. The...
Mutations in SNX14 cause the autosomal recessive cerebellar ataxia 20 (SCAR20). generally result loss of protein although several coding region deletions have also been reported. Patient-derived fibroblasts show disrupted autophagy, but precise function is unknown. The yeast homolog, Mdm1, functions endoplasmic reticulum (ER)-lysosome/vacuole inter-organelle tethering, functional conservation mammals still required. Here, we that alters does not block autophagic flux. In addition, find an...
Abstract Context Small for gestational age (SGA) can be the result of fetal growth restriction, which is associated with perinatal morbidity and mortality. Mechanisms that control prenatal are poorly understood. Objective The aim current study was to gain more insight into failure determine an effective diagnostic approach in SGA newborns. We hypothesized one or copy number variations (CNVs) disturbed methylation sequence variants may present genes growth. Design A prospective cohort...
Fetal growth involves highly complex molecular pathways. IGF2 is a key paternally expressed hormone that critical for in utero mice. Its role human fetal has remained ambiguous, as it only been studied term tissues. Conversely the maternally suppressor, PHLDA2, significant negative correlation between its placental expression and birth weight.The aim of this study to address early gestation IGF1, IGF2, their receptors IGF1R IGF2R, PHLDA2 on weight.Real-time quantitative PCR was used...
<ns3:p><ns3:bold>Background:</ns3:bold> Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by paternally imprinted/maternally expressed gene in humans. Loss-of-function variants <ns3:italic>CDKN1C</ns3:italic> are associated with an overgrowth condition (Beckwith-Wiedemann Syndrome) whereas “gain-of-function” <ns3:italic>CDKN1C </ns3:italic>that increase protein stability cause restriction as part IMAGe syndrome...
RAS proteins regulate cell division, differentiation, and apoptosis through multiple downstream effector pathways. Oncogenic variants are the commonest drivers in cancers; however, they also drive many benign lesions predisposing to malignancy, such as melanocytic nevi, thyroid nodules, colonic polyps. Reversal of these could reduce cancer incidence; effects oncogenic have been notoriously difficult target with pathway inhibitors. In this study, we show effective suppression currently...
Abstract Mutations in the SNX14 gene cause spinocerebellar ataxia, autosomal recessive 20 (SCAR20) both humans and dogs. Studies implicating phenotypic consequences of mutations to be subcellular disruption autophagy lipid metabolism have been limited vitro investigation patient-derived dermal fibroblasts, laboratory engineered cell lines developmental analysis zebrafish morphants. homologues Snz ( Drosophila ) Mdm1 (yeast) also conducted, demonstrated an important biochemical role during...
Recurrent pregnancy loss (RPL) is defined as two or more consecutive miscarriages and affects an estimated 1.5% of couples trying to conceive. RPL has been attributed genetic, endocrine, immune thrombophilic disorders, but many cases remain unexplained. We investigated a Bangladeshi family where the proband experienced 29 losses with no successful pregnancies from three different marriages. Whole exome sequencing identified rare genetic variants in several candidate genes. These were further...
<ns3:p><ns3:bold>Background:</ns3:bold> Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a key negative regulator of cell growth encoded by paternally imprinted/maternally expressed gene in humans. Loss-of-function variants <ns3:italic>CDKN1C</ns3:italic> are associated with an overgrowth condition (Beckwith-Wiedemann Syndrome) whereas “gain-of-function” <ns3:italic>CDKN1C </ns3:italic>that increase protein stability cause restriction as part IMAGe syndrome (...
About 20% of pregnancies are affected by some form complication. Research has shown that anomalies in implantation, development, and growth the fetus; ineffective nutrient exchange between mother fetus due to placental dysfunction; maternal problems such as hypertension or infection during pregnancy can all lead adverse outcomes. However, molecular aetiology events remains poorly understood. Fetal restriction (FGR), recurrent miscarriage (RM), preterm birth (PTB), pre-eclampsia (PE) most...
Abstract We analysed DNA methylation data from 30 datasets comprising 3474 individuals, 19 tissues and 8 ethnicities at CpGs covered by the Illumina450K array. identified 4143 hypervariable (‘hvCpGs’) with in top 5% most variable sites across multiple ethnicities. hvCpG was influenced but not determined genetic variation, linked to probe reliability, epigenetic drift, age, sex or cell heterogeneity effects. tended covary derived different germ-layers hvCpGs were enriched for proximity ERV1...
This study investigated the genetic basis of an unusual autosomal dominant phenotype characterized by familial absent uvula, with a short posterior border soft palate, abnormal tonsillar pillars, and velopharyngeal insufficiency. Cytogenetic analysis single-nucleotide polymorphism–based linkage were in 4-generation family 8 affected individuals. Whole exome sequencing data overlaid, segregation identified single missense variant, p.Q433P FOXF2 transcription factor, that fully segregated...
<ns4:p><ns4:bold>Background:</ns4:bold>Lenz-Majewski syndrome (LMS) is characterized by osteosclerosis and hyperostosis of skull, vertebrae tubular bones as well craniofacial, dental, cutaneous, digit abnormalities. We previously found that LMS caused by<ns4:italic>de novo</ns4:italic>dominant missense mutations in the <ns4:italic>PTDSS1</ns4:italic> gene, which encodes phosphatidylserine synthase 1 (PSS1), an enzyme catalyses conversion phosphatidylcholine to phosphatidylserine. The causing...
Abstract. Flooding is one of the most common natural disasters worldwide, leading to economic losses and loss human lives. This paper highlights hydrological effects multi-temporal land use changes in flood hazard within Yialias catchment area, located central Cyprus. Calibrated hydraulic models were used describe processes internal basin dynamics three major sub-basins, order study diachronic changes. For implementation model, use, soil hydrometeorological data incorporated. The climatic...
Abstract The objective of this study was to evaluate the risks associated with nutrient and heavy metal pollution in water sediments Kouris Reservoir Cyprus, recommend applicable measures alleviate them. reservoir drainage area contains various historic abandoned copper mines existing an ophiolite geological substrate. is classified as oligotrophic mesotrophic, phosphorus being limiting factor for algae growth. thermal stratification enhances anoxic conditions hypolimnion, initiating release...
Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, predisposition to malignancy. Using tight phenotypic group high-depth next-generation sequencing affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as cause phakomatosis type III or spilorosea. Within an individual, same...
Abstract Severe cases of congenital melanocytic naevi (CMN) are associated with substantial cutaneous and neurological morbidity an excess childhood mortality from melanoma. Effective treatments lacking. This mosaic disorder is caused most commonly by a heterozygous oncogenic variant NRAS c.181C&gt;A, p.(Q61K). As has multiple downstream effectors we have sought to treat this disease precision genetic therapy rather than pathway inhibition, hypothesising that silencing the allele may...
SGA is often defined as a birth weight and/or length < −2 SDS for gestational age and gender [43]. A frequent cause of fetal growth restriction (FGR), associated with perinatal mortality morbidity also implicated in higher risk cardio-metabolic disease adulthood. Currently, no tools are available to predict or prevent FGR. Both genetic environmental factors may affect growth, but the underlying molecular mechanisms still unclear. Genetic epigenetic account 30-50% variation [44]. Chromosomal...
Abstract We analysed DNA methylation data from 30 datasets comprising 3,474 individuals, 19 tissues and 8 ethnicities at CpGs covered by the Illumina450K array. identified 4,143 hypervariable (“hvCpGs”) with in top 5% most variable sites across multiple ethnicities. hvCpG was influenced but not determined genetic variation, linked to probe reliability, epigenetic drift, age, sex or cell heterogeneity effects. tended covary derived different germ-layers hvCpGs were enriched for associations...