Associated Papers
From RAAS blockade to regenerative medicine: evolving treatment strategies in Alport syndrome.
Lo Re C et al.
Pediatric Nephrology (berlin, Germany), 2026
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025
Detection of Alport gene variants in children and young people with persistent haematuria.
Ng NSL et al.
Pediatric Nephrology (berlin, Germany), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Genetic Causes of Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis.
Caparali EB et al.
Advances in Kidney Disease and Health, 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
Alport Syndrome: Clinical Spectrum and Therapeutic Advances.
Gregorio V et al.
Kidney Medicine, 2023
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P et al.
Frontiers in Medicine, 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
GWAS of Hematuria.
Gagliano Taliun SA et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2022
Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.
Barua M et al.
Pediatric Nephrology (berlin, Germany), 2022
Identification of COL4A4 variants in Chinese patients with familial hematuria.
Gao Y et al.
Frontiers in Genetics, 2022
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S et al.
Journal of Human Genetics, 2021
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Diagnostic utility of genetic testing in patients undergoing renal biopsy.
Benson KA et al.
Cold Spring Harbor Molecular Case Studies, 2020
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
A Novel COL4A4 Mutation Identified in a Chinese Family with Thin Basement Membrane Nephropathy.
Xu Y et al.
Scientific Reports, 2016
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J et al.
Plos One, 2016
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA et al.
Journal of Medical Genetics, 2015
Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
Malone AF et al.
Kidney International, 2014
Pathology vs. molecular genetics: (re)defining the spectrum of Alport syndrome.
Miner JH
Kidney International, 2014
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
Storey H et al.
Journal of the American Society of Nephrology : Jasn, 2013
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Novel corneal phenotype in a patient with alport syndrome.
Bower KS et al.
Cornea, 2009
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
Rana K et al.
Pediatric Nephrology (berlin, Germany), 2007
Mutations in the COL4A4 gene in thin basement membrane disease.
Buzza M et al.
Kidney International, 2003
Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
Dagher H et al.
Human Mutation, 2002
Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.
Shulman C et al.
Kidney Medicine, 0