Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5
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DOI: 10.1038/s41467-020-16605-x
Abstract: Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report the development of an exon-skipping therapy using an antisense-oligonucleotide (ASO) for severe male X-linked Alport… read more here.
Keywords: exon skipping; linked alport; alport syndrome; skipping therapy ... See more keywords
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
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DOI: 10.1136/jmg-2023-109221
Abstract: Background X-linked Alport syndrome (XLAS) caused by COL4A5 pathogenic variants usually has heterogeneous phenotypes in female patients. The genetic characteristics and glomerular basement membrane (GBM) morphological changes in women with XLAS need to been further… read more here.
Keywords: morphological changes; changes women; genetic features; col4a5 ... See more keywords
X-linked Alport syndrome: pathogenic variant features and further auditory genotype-phenotype correlations in males
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DOI: 10.1186/s13023-018-0974-4
Abstract: ObjectiveTo analyze the clinical audiological characteristics of X-Linked Alport syndrome (XLAS) in males and their relationships with genotypes.MethodsThe clinical data of 87 male patients with AS were reviewed. Hearing levels were evaluated using pure tone… read more here.
Keywords: hearing loss; age; linked alport; alport syndrome ... See more keywords
Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome.
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DOI: 10.1681/asn.2018030228
Abstract: BACKGROUND X-linked Alport syndrome (XLAS) is a progressive hereditary nephropathy caused by mutations in the COL4A5 gene. Genotype-phenotype correlation in male XLAS is relatively well established; relative to truncating mutations, nontruncating mutations exhibit milder phenotypes.… read more here.
Keywords: splicing abnormalities; genotype phenotype; phenotype correlation; linked alport ... See more keywords