Associated Papers
Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.
Loderbauer L et al.
Kidney International Reports, 2026
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.
Kawamoto R et al.
Journal of Nephrology, 2025
A Prediction Model of Disease Progression in X-Linked Alport syndrome Based on Clinical Characteristics and Genetic Variants.
Zeng M et al.
Kidney International Reports, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
Polygenic risk alters the penetrance of monogenic kidney disease.
Khan A et al.
Nature Communications, 2023
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
X-linked Alport Syndrome with Type IV Collagen α5 Chain Staining Revealing Normal Expression in the Glomerular Basement Membrane and Negative on Bowman's Capsule and Distal Tubular Basement Membrane: A Case Report.
Okamoto T et al.
The Tohoku Journal of Experimental Medicine, 2023
Polygenic risk affects the penetrance of monogenic kidney disease.
Khan A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
Boeckhaus J et al.
Clinical Genetics, 2021
Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.
Kamura M et al.
Kidney International Reports, 2020
A Split-Luciferase-Based Trimer Formation Assay as a High-throughput Screening Platform for Therapeutics in Alport Syndrome.
Omachi K et al.
Cell Chemical Biology, 2018
Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
Liu JH et al.
Plos One, 2017
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J et al.
Plos One, 2016
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
Baikara BT et al.
Plos One, 2015
Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria.
Chatterjee R et al.
Plos One, 2013
Molecular testing for adult type Alport syndrome.
Pont-Kingdon G et al.
Bmc Nephrology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
Wang F et al.
Kidney International, 2005
[Proteins structure changes of COL4A5 gene point mutations and structure-phenotype relations in Alport syndrome].
Wang YF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Effect of glycine substitutions on alpha5(IV) chain structure and structure-phenotype correlations in Alport syndrome.
Wang YF et al.
Biochemical and Biophysical Research Communications, 2004