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Kidney International|June 8, 2025
Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3Pavlos Ioannou, Christoforos Odiatis, Rania Hadjisavva, et al.
Kidney International Reports|March 19, 2026
Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport SyndromeThomas M Oates, Moumita Barua, Susie Gear, et al.
Human Mutation|May 18, 2006
The cypriot and Iranian National Mutation Frequency DatabasesMarina Kleanthous, Philippos C Patsalis, Anthi Drousiotou, et al.
Kidney International|March 5, 2015
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus reportKai-Uwe Eckardt, Seth L Alper, Corinne Antignac, et al.
Plos One|March 22, 2013
Epistatic role of the MYH9/APOL1 region on familial hematuria genesKonstantinos Voskarides, Panayiota Demosthenous, Louiza Papazachariou, et al.
Clinical Journal of the American Society of Nephrology : CJASN|May 14, 2011
Familial C3 glomerulopathy associated with CFHR5 mutations: clinical characteristics of 91 patients in 16 pedigreesYiannis Athanasiou, Konstantinos Voskarides, Daniel P Gale, et al.
Matrix Biology Plus|March 15, 2021
A glycine substitution in the collagenous domain of Col4a3 in mice recapitulates late onset Alport syndromeChristoforos Odiatis, Isavella Savva, Myrtani Pieri, et al.
Genes|September 28, 2023
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and MiceConstantinos Deltas, Gregory Papagregoriou, Stavroula F Louka, et al.
European Journal of Medical Genetics|October 13, 2017
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritanceMajdi Nagara, Gregory Papagregoriou, Rim Ben Abdallah, et al.
Scientific Reports|February 18, 2022
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndromeJoel T Gibson, Mary Huang, Marina Shenelli Croos Dabrera, et al.
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