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5. Targeting sustainable bioeconomy: A new development strategy for Southern European countries. The Manifesto of the European Mezzogiorno

Author

Koukios, Emmanuel, primary, Monteleone, Massimo, additional, Texeira Carrondo, Manuel Jose, additional, Charalambous, Anthi, additional, Girio, Francisco, additional, Hernández, Eva López, additional, Mannelli, Sofia, additional, Parajó, Juan Carlos, additional, Polycarpou, Polycarpos, additional, and Zabaniotou, Anastasia, additional

Published
2018
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6. Frequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing

Author

Papazachariou, Louiza, Demosthenous, Panayiota, Pieri, Myrtani, Papagregoriou, Gregory N., Savva, Isavella, Stavrou, Christoforos V., Zavros, Michalis, Athanasiou, Yiannis, Ioannou, Kyriakos, Patsias, Charalambos, Panagides, Alexia, Potamitis, Costas, Demetriou, Kyproula, Prikis, Marios, Hadjigavriel, Michalis, Kkolou, Maria, Loukaidou, Panayiota, Pastelli, Androulla, Michael, Aristos, Lazarou, Akis, Arsali, Maria, Damianou, Loukas, Goutziamani, Ioanna, Soloukides, Andreas P., Yioukas, Lakis, Elia, Avraam, Zouvani, Ioanna, Polycarpou, Polycarpos, Pierides, Alkis M., Voskarides, Konstantinos, Constantinou-Deltas, Constantinos D., Demosthenous, Panayiota M., Voskarides, Konstantinos A., and Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169]

Subjects
Male, Aging, Pathology, sequence analysis, kidney dysfunction, kidney disease, polymerase chain reaction, Nephritis, Hereditary, urologic and male genital diseases, Autoantigens, nephritis, middle aged, Renal Failure, genetics, Greece, Glomerulosclerosis, Focal Segmental, Glomerular basement membrane, adult, thin basement membrane nephropathy, High-Throughput Nucleotide Sequencing, tumstatin, Endoplasmic Reticula, aged, Nephrology, Medicine, Cellular Structures and Organelles, focal glomerulosclerosis, Collagen Type IV, medicine.medical_specialty, phenotype, Science, kidney biopsy, DNA sequence, Article, Nephropathy, Genetics, Renal Diseases, Point Mutation, Humans, human, end stage renal disease, COL4A3 gene, Aged, Hematuria, human cell, Biology and Life Sciences, DNA, medicine.disease, major clinical study, Endocrinology, Mutation, glomerulus basement membrane, Kidney Failure, Chronic, genetic transfection, proteinuria, mutation, podocyte, preschool child, Basement Membrane, Glomerulonephritis, Focal segmental glomerulosclerosis, Chronic Kidney Disease, Glomerular Basement Membrane, Medicine and Health Sciences, gene mutation, Microscopic hematuria, child, Secretory Pathway, Multidisciplinary, Podocytes, COL4A4 gene, cell line, unfolded protein response, Middle Aged, chronic kidney failure, autoantigen, Extracellular Matrix, medicine.anatomical_structure, female, Cell Processes, Female, COL4A4 protein, human, Research Article, Adult, Cell Line, Frameshift mutation, high throughput sequencing, male, collagen type 4, Internal medicine, medicine, heterozygosity, controlled study, family study, Alport syndrome, Cypriot, cell culture, Base Sequence, business.industry, aging, Glomerulosclerosis, Human Genetics, nucleotide sequence, Cell Biology, Sequence Analysis, DNA, type IV collagen alpha3 chain, hematuria, Unfolded Protein Response, pathology, business, metabolism, genetic predisposition, Kidney disease
Abstract

Familial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies. © 2014 Papazachariou et al. 9 12 Cited By :13

Published
2014

7. Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Author

Papazachariou, Louiza, primary, Demosthenous, Panayiota, additional, Pieri, Myrtani, additional, Papagregoriou, Gregory, additional, Savva, Isavella, additional, Stavrou, Christoforos, additional, Zavros, Michael, additional, Athanasiou, Yiannis, additional, Ioannou, Kyriakos, additional, Patsias, Charalambos, additional, Panagides, Alexia, additional, Potamitis, Costas, additional, Demetriou, Kyproula, additional, Prikis, Marios, additional, Hadjigavriel, Michael, additional, Kkolou, Maria, additional, Loukaidou, Panayiota, additional, Pastelli, Androulla, additional, Michael, Aristos, additional, Lazarou, Akis, additional, Arsali, Maria, additional, Damianou, Loukas, additional, Goutziamani, Ioanna, additional, Soloukides, Andreas, additional, Yioukas, Lakis, additional, Elia, Avraam, additional, Zouvani, Ioanna, additional, Polycarpou, Polycarpos, additional, Pierides, Alkis, additional, Voskarides, Konstantinos, additional, and Deltas, Constantinos, additional

Published
2014
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