Constantinos Deltas
A5029748749- Renal Diseases and Glomerulopathies
- Cell Adhesion Molecules Research
- Renal and related cancers
- Genetic and Kidney Cyst Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Genetic Syndromes and Imprinting
- Platelet Disorders and Treatments
- Connective tissue disorders research
- Kidney Stones and Urolithiasis Treatments
- Biomedical Research and Pathophysiology
- Cancer Genomics and Diagnostics
- Ion Transport and Channel Regulation
- Hedgehog Signaling Pathway Studies
- Genetic factors in colorectal cancer
- Genomics and Rare Diseases
- MicroRNA in disease regulation
- Complement system in diseases
- Cystic Fibrosis Research Advances
- Chromosomal and Genetic Variations
- Pediatric Urology and Nephrology Studies
- Peptidase Inhibition and Analysis
- Renal cell carcinoma treatment
- Nitric Oxide and Endothelin Effects
- Cancer Immunotherapy and Biomarkers
- Chronic Kidney Disease and Diabetes
University of Cyprus
2015-2024
Inserm
2023
University of Zurich
2023
Institut des Maladies Génétiques Imagine
2023
Collaborative Group (United States)
2023
Qatar University
2017-2018
Broad Institute
2018
Massachusetts Institute of Technology
2018
Cyprus Institute of Neurology and Genetics
2002-2015
Laboratory of Molecular Genetics
2012-2014
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this ( PKD2 ) segregated with the three families. The predicted 968-amino acid sequence of product has six transmembrane spans intracellular amino- and carboxyl-termini. protein amino similarity PKD1, Caenorhabditis elegans homolog family voltage-activated calcium (and sodium) channels, it contains a potential calcium-binding domain.
Mutations in the COL4A3/COL4A4 genes of type IV collagen have been found approximately 40% cases thin basement membrane nephropathy, which is characterized by microscopic hematuria and classically thought to cause proteinuria chronic renal failure rarely. Here we report our observations 116 subjects from 13 Cypriot families clinically affected with nephropathy. These first came attention because they segregated hematuria, mild proteinuria, variable degrees impairment, but a dual diagnosis...
Background. Heterozygous mutations in the COL4A3/ COL4A4 genes are currently thought to be responsible for familial benign microscopic haematuria and maintenance of normal long-term kidney function.
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved metabolism transport. In several European populations, countries lower income, information related prevalence pharmacogenomic biomarkers is incomplete or lacking. Here, we have implemented microattribution approach assess allelic spectrum 18 mostly from developing countries, by...
Complement factor H and related proteins (CFHR) are key regulators of the alternative complement pathway, where loss function mutations lead to a glomerulopathy with isolated mesangial C3 deposits without immunoglobulins. Gale et al. (12) reported on 26 patients first familial, hematuric caused by founder mutation in CFHR5 gene Cypriot descent living United Kingdom. nephropathy is clinically characterized continuous microscopic hematuria whereas some present additional episodes...
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage disease, primarily due to mutations in UMOD and MUC1. The lack clinical recognition the small size cohorts have slowed understanding ontology development diagnostic algorithms. We analyzed two registries from Europe United States define genetic characteristics ADTKD-UMOD ADTKD-MUC1 develop a practical score guide testing. Our study encompassed 726 patients 585 families with...
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history hematuria or kidney function impairment. Alport syndrome experts now advocate genetic even when heterozygous COL4A3 COL4A4 suspected, and cascade their first-degree members because risk impaired function. The recommend too that heterozygotes do not act as donors. Testing in COL4A3–COL4A5 genes should also be performed proteinuria...
Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended indications for screening pathogenic variants in COL4A5, COL4A3 and COL4A4 genes beyond classical phenotype (haematuria, renal failure; family history haematuria or failure) to include persistent proteinuria, steroid-resistant nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), familial IgA glomerulonephritis end-stage kidney failure without an obvious cause. refined ACMG criteria variant...
We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. identified five individuals with MBD4 within four families and these had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, uveal melanoma. encodes glycosylase involved G:T mismatches resulting from deamination 5'-methylcytosine. The adenomas MBD4-deficient showed mutator...
ABSTRACT. Autosomal dominant polycystic kidney disease (ADPKD) is a common Mendelian disorder that affects approximately 1 in 1000 live births. Mutations of two genes, PKD1 and PKD2, account for the 80 to 85% 10 15% cases, respectively. Significant interfamilial intrafamilial renal variability ADPKD has been well documented. Locus heterogeneity major determinant (i.e., patients from PKD1-linked families have significantly earlier onset ESRD compared with PKD2-linked families). More recently,...
Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These invariably present with microscopic hematuria frequently progress to proteinuria CKD or ESRD during long-term follow-up. Nonetheless, the exact molecular mechanisms which these exert their deleterious effects on glomerulus remain elusive. We hypothesized that defective trafficking of COL4A3 chain causes a strong intracellular effect...
The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number tandem repeat region MUC1 encoding mucoprotein-1 (MUC1), protein that is present skin, breast, and lung tissue, gastrointestinal tract, distal tubules kidney. purpose this investigation to analyze clinical characteristics families individuals with mutation.Families autosomal dominant interstitial were referred for analysis over 14-year period. Families without...
In 1927 Arthur Cecil Alport, a South African physician, described British family with an inherited form of kidney disease that affected males more severely than females and was sometimes associated hearing loss. 1961, the eponymous name Alport syndrome adopted. late twentieth century three genes responsible for were discovered: COL4A3, COL4A4, COL4A5 encoding α3, α4, α5 polypeptide chains type IV collagen, respectively. These assemble to heterotrimers collagen in glomerular basement...
Alport syndrome is the commonest inherited kidney disease and nearly half pathogenic variants in COL4A3-COL4A5 genes that cause result Gly substitutions. This study examined molecular characteristics of substitutions determine severity clinical features. Pathogenic COL4A5 affecting Leiden Open Variation Database males with X-linked were correlated age at failure (n = 157) hearing loss diagnosis 80). Heterozygous COL4A3 COL4A4 304) autosomal dominant risk haematuria UK 100,000 Genomes...
Abstract Mutations in one of the two genes encoding type I procollagen (COL1A1 and COL1A2) are frequently cause osteogenesis imperfecta (OI), a disorder characterized by brittle bones. Here we tested whether patients with low bone density also have mutations these genes. The 26 studied had no apparent metabolic disease, but most positive family history osteopenia or osteoporosis. Although diagnosis OI was considered clinician some cases, clinical criteria for were not satisfied. Our strategy...