Results 1 to 10 of about 3,450 (166)
Minnelide ameliorates Col4a5+/− mice by upregulating Col4a5 and alleviating endoplasmic reticulum stress [PDF]
Frontiers in PharmacologyBackgroundAlport syndrome (AS) is a progressive hereditary nephropathy caused by mutations in collagen IV genes, notably COL4A5, leading to proteinuria and kidney failure. Current therapies using RAAS inhibitors show limited efficacy.
Bao-wei Ji +18 more
doaj +5 more sources
Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families [PDF]
Frontiers in MedicineIntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Yap Hui Kim +2 more
exaly +4 more sources
The Alport syndrome COL4A5 variant database [PDF]
Human Mutation, 2010 Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form ( approximately 80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (XLAS) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5).
David K Crockett
exaly +3 more sources
Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome [PDF]
Human Mutation, 2005 This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome.
Mato, Nagel +2 more
exaly +3 more sources
Frontiers in Medicine, 2022 BackgroundAlport syndrome is a hereditary glomerulopathy featured by haematuria, proteinuria, and progressive renal failure. X-linked Alport syndrome (XLAS) due to COL4A5 disease-causing variants is the most common form.
Yanqin Zhang, Zhang Yanqin
exaly +3 more sources
The First COL4A5 Exon 41A Glycine Substitution in a Family With Alport Syndrome
Frontiers in Pediatrics, 2020 Background: X-linked Alport syndrome is caused by mutations in the COL4A5 gene, which encodes the a5(IV) chain. No mutations were detected in COL4A5 exons 41A and 41B.Materials and Methods: A Chinese family with suspected Alport syndrome was enrolled in ...
Xuejuan Li
exaly +3 more sources
The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome
Frontiers in Medicine, 2022 X-linked Alport syndrome (XLAS) is caused by pathogenic variants in COL4A5 and is characterized by progressive kidney disease, hearing loss, and ocular abnormalities.
Tomohiko Yamamura +2 more
exaly +3 more sources
Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing [PDF]
Kidney International Reports, 2022 COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS with nonsense variants have the most severe phenotypes of early onset end-stage kidney disease (ESKD); those with splicing variants have middle phenotypes and those with missense variants have the mildest phenotypes.
Eri Okada +2 more
exaly +3 more sources
Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants
Kidney International Reports, 2023 Genetic diagnosis of Alport syndrome (AS), which results from pathogenic variants in COL4A3, COL4A4, or COL4A5 genes, is hindered by large numbers of unclassified variants detected using next-generation sequencing (NGS). We examined the impact on splicing of variants of uncertain significance in COL4A3 to COL4A5.Nine unrelated patients with clinical ...
Yanqin Zhang
exaly +3 more sources
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients [PDF]
Human Mutation, 2000 Alport syndrome (AS) is a hereditary kidney disorder, mainly caused by mutations in the X-chromosomal gene (COL4A5) encoding the type IV collagen a5 chain. In this study, detection of COL4A5 mutations was performed in 17 Finnish Alport syndrome families.
K Tryggvason
exaly +3 more sources