Cargando…
Prevalence of clinical, pathological and molecular features of glomerular basement membrane nephropathy caused by COL4A3 or COL4A4 mutations: a systematic review
BACKGROUND: Patients heterozygous for COL4A3 or COL4A4 mutations show a wide spectrum of disease, extending from familial isolated microscopic haematuria, as a result of thin basement membranes (TBMs), to autosomal dominant Alport syndrome (ADAS) and end-stage renal disease (ESRD). Many patients are...
Autores principales: | Matthaiou, Andreas, Poulli, Tsielestina, Deltas, Constantinos |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769542/ https://www.ncbi.nlm.nih.gov/pubmed/33391746 http://dx.doi.org/10.1093/ckj/sfz176 |
Ejemplares similares
-
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy
por: Xu, Yan, et al.
Publicado: (2016) -
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome
por: Liu, Jian-Hong, et al.
Publicado: (2017) -
ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice
por: Jones, Frances E., et al.
Publicado: (2016) -
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
por: Gibson, Joel T., et al.
Publicado: (2022) -
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
por: Papazachariou, Louiza, et al.
Publicado: (2014)