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.

doi:10.1371/journal.pone.0115015

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Article

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.

PloS one - 1 Jan 2014

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25514610
DOI: 10.1371/journal.pone.0115015
PMCID: PMC4267773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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