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Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria [PDF]

Kidney International, 2007
Alport syndrome (ATS) and benign familial hematuria (BFH) are type IV collagen inherited disorders. Mutations in COL4A5 are generally believed to cause X-linked ATS, whereas mutations in COL4A3 and COL4A4 genes can be associated with the autosomal ...
A Hvala, S Kaplan-Pavlovčič, D Ferluga
exaly   +2 more sources

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Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

Kidney Medicine, 2023
Jeroen K J Deegens, Jeroen Schoots, Eric Steenbergen   +2 more
exaly  

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?

Nephrology Dialysis Transplantation, 2022
Antonio Mastrangelo, Giovanni Montini, Marisa Giani   +2 more
exaly  

Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family

Journal of Genetics, 2017
Yanmei Huang, Donghao Wang
exaly  

Two genes, COL4A3 and COL4A4 coding for the human α3(IV) and α4(IV) collagen chains are arranged head-to-head on chromosome 2q36 1

FEBS Letters, 1998
Ryusuke Momota, Toshitaka Oohashi, Yoshifumi Ninomiya   +2 more
exaly  

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome† ‡

Human Mutation, 2002
Hayat Dagher, Judy Savige, Yan Yan Wang
exaly  

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.

Nephrology Dialysis Transplantation, 2009
Constantinos Deltas, Konstantinos Voskarides, Yiannis Athanasiou   +2 more
exaly  

The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study

Computers in Biology and Medicine
Shikang Li, Tiaozhan Zheng
exaly  

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome†‡

Human Mutation, 2005
Oliver Gross, Mato Nagel
exaly  

A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis

Journal of Cellular and Molecular Medicine, 2016
Pengzhi Hu, Lamei Yuan, Hongbo Xu
exaly