Associated Papers
Expanding the COL4A4 variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification.
Huang Y et al.
Renal Failure, 2025
Impact of Age-3 Urine Screening on Diagnosis and Treatment Timing in Alport Syndrome.
Kitakado H et al.
Kidney International Reports, 2025
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome.
Pagniez MS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM et al.
Kidney International Reports, 2025
Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
Wang D et al.
Bmc Medical Genomics, 2024
Rare subclonal sequencing of breast cancers indicates putative metastatic driver mutations are predominately acquired after dissemination.
Lawrence-Paul MR et al.
Genome Medicine, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Mutation Analysis of Thin Basement Membrane Nephropathy.
Hirabayashi Y et al.
Genes, 2022
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
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation.
Schrezenmeier E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Jayasinghe K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families.
Zhang Y et al.
European Journal of Human Genetics : Ejhg, 2020
Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
Imafuku A et al.
Nephrology (carlton, Vic.), 2018
Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
Gillion V et al.
Kidney International Reports, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.
Xu Y et al.
Scientific Reports, 2016
Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza M et al.
Kidney International, 2003
Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.
Badenas C et al.
Journal of the American Society of Nephrology : Jasn, 2002
COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
Buzza M et al.
Kidney International, 2001
Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
Boye E et al.
American Journal of Human Genetics, 1998