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

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...

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Veröffentlicht in:	PloS one 2014-12, Vol.9 (12), p.e115015-e115015
Hauptverfasser:	Papazachariou, Louiza, Demosthenous, Panayiota, Pieri, Myrtani, Papagregoriou, Gregory, Savva, Isavella, Stavrou, Christoforos, Zavros, Michael, Athanasiou, Yiannis, Ioannou, Kyriakos, Patsias, Charalambos, Panagides, Alexia, Potamitis, Costas, Demetriou, Kyproula, Prikis, Marios, Hadjigavriel, Michael, Kkolou, Maria, Loukaidou, Panayiota, Pastelli, Androulla, Michael, Aristos, Lazarou, Akis, Arsali, Maria, Damianou, Loukas, Goutziamani, Ioanna, Soloukides, Andreas, Yioukas, Lakis, Elia, Avraam, Zouvani, Ioanna, Polycarpou, Polycarpos, Pierides, Alkis, Voskarides, Konstantinos, Deltas, Constantinos
Format:	Artikel
Sprache:	eng
Schlagworte:	Activation Adult Aged Aging Alport syndrome Autoantigens - genetics Base Sequence Biology and Life Sciences Cell Line Chronic kidney failure Collagen Collagen (type IV) Collagen Type IV - genetics Collagens End-stage renal disease Female Genes Genetics Glomerular Basement Membrane - pathology Glomerulosclerosis, Focal Segmental - genetics Hematuria Hematuria - genetics Heterozygosity High-Throughput Nucleotide Sequencing Hospitals Humans Kidney diseases Kidney Failure, Chronic - genetics Kidney Failure, Chronic - pathology Kidney transplantation Laboratories Male Medicine Medicine and Health Sciences Middle Aged Mutation Mutation - genetics Nephritis, Hereditary - genetics Nephrology Nephropathy Patients Podocytes - metabolism Protein folding Proteinuria Sequence Analysis, DNA Tonna Unfolded Protein Response - genetics
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