Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267773/ https://www.ncbi.nlm.nih.gov/pubmed/25514610 http://dx.doi.org/10.1371/journal.pone.0115015 |
Ejemplares similares
-
COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
por: Voskarides, Konstantinos, et al.
Publicado: (2018) -
A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndrome
por: Odiatis, Christoforos, et al.
Publicado: (2020) -
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
por: Liu, Jian-Hong, et al.
Publicado: (2017) -
Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus
por: Štabuc-Šilih, Mirna, et al.
Publicado: (2009) -
Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome
por: Cerkauskaite, Agne, et al.
Publicado: (2022)