Associated Papers
Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3.
Ioannou P et al.
Kidney International, 2025
Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports.
Gao X et al.
Medicine, 2023
New Insights into Renal Failure in a Cohort of 317 Patients with Autosomal Dominant Forms of Alport Syndrome: Report of Two Novel Heterozygous Mutations in COL4A3.
García-Aznar JM et al.
Journal of Clinical Medicine, 2022
36013122 (PubMed )
Supplement: jcm-11-04883-s001.zip › jcm-1756647-supplementary.pdf
Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation.
Zhang HD et al.
Chinese Medical Journal, 2019
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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