Alport mouse model (Col4a5) have been submitted for proteomic analysis. Glomeruli have been isolated from mouse kidneys, extracellular matrix has been enriched and analysed by mass spectrometry.
Background: Recent transcriptomic studies of total glomerular and isolated glomerular endothelial cells (GEC) provide much needed insight into the potential associations between expression of specific
Introduction: Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes which are affected in Alport s
Background: Variants in the COL4A4 gene have been identified as a significant cause of autosomal Alport syndrome. This study aimed to investigate the genetic features, clinical manifestations, and gen
We present a case of unilateral full-thickness macular hole (MH) successfully repaired with an amniotic membrane graft in a patient with Alport syndrome. A 58-year-old Asian female with past medical h
