Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique
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DOI: 10.1002/mgg3.653
Abstract: Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis… read more here.
Keywords: col4a5 genes; alport syndrome; mutations col4a3; col4a3 col4a4 ... See more keywords
Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
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DOI: 10.1002/mgg3.741
Abstract: Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations… read more here.
Keywords: correlation prognostic; genotype phenotype; phenotype correlation; alport syndrome ... See more keywords
Renal, auricular, and ocular outcomes of Alport syndrome and their current management
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DOI: 10.1007/s00467-017-3784-3
Abstract: Alport syndrome is a hereditary glomerular basement membrane disease caused by mutations in the COL4A3/4/5 genes encoding the type IV collagen alpha 3–5 chains. Most cases of Alport syndrome are inherited as X-linked dominant, and… read more here.
Keywords: current management; outcomes alport; syndrome current; alport syndrome ... See more keywords
Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Nephrology"
DOI: 10.1007/s00467-018-4121-1
Abstract: The diagnosis of Alport syndrome is suspected when an individual has haematuria or renal failure, together with a hearing loss; haematuria or renal failure, and a family history of Alport syndrome; or a pathognomonic Alport… read more here.
Keywords: alport syndrome; alport; family members; inheritance ... See more keywords
A child with familial glomerulonephritis: Answers
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DOI: 10.1007/s00467-020-04551-1
Abstract: 1. Alport syndrome, despite the negative results given by the genetic test, seemed the most likely diagnosis given the patient’s family history and the early onset of the symptoms both in the child and his… read more here.
Keywords: alport syndrome; chain; basal membrane; glomerulonephritis ... See more keywords
Bilateral spontaneous anterior lens capsule ruptures in a child: A rare presentation of Alport syndrome
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DOI: 10.1016/j.ajoc.2020.100896
Abstract: Purpose This report describes the rare case of a child with bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome. Observations The clinical presentation, special investigations and surgical management of the… read more here.
Keywords: bilateral spontaneous; lens capsule; spontaneous anterior; capsule ruptures ... See more keywords
Discoidin domain receptor 1 activation links extracellular matrix to podocyte lipotoxicity in Alport syndrome
Sign Up to like & getrecommendations! Published in 2020 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2020.103162
Abstract: Background Discoidin domain receptor 1 (DDR1) is a receptor tyrosine kinase that is activated by collagens that is involved in the pathogenesis of fibrotic disorders. Interestingly, de novo production of the collagen type I (Col… read more here.
Keywords: alport syndrome; receptor; discoidin domain; domain receptor ... See more keywords
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.
Sign Up to like & getrecommendations! Published in 2018 at "Kidney international"
DOI: 10.1016/j.kint.2018.06.031
Abstract: Studies suggest that altered renal lipid metabolism plays a role in the pathogenesis of diabetic kidney disease and that genetic or pharmacological induction of cholesterol efflux protects from the development of diabetic kidney disease and… read more here.
Keywords: alport syndrome; alport; focal segmental; kidney disease ... See more keywords
Long-term ACE inhibition in Alport syndrome: are the benefits worth the risks?
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DOI: 10.1016/j.kint.2020.01.030
Abstract: Gross et al. present results of the EARLY PRO-TECT trial, a randomized controlled trial of ramipril versus placebo in children with early-stage Alport syndrome. Although under-enrolled and not a positive trial in the traditional sense, EARLY… read more here.
Keywords: long term; ace inhibition; inhibition alport; alport syndrome ... See more keywords
Generation of induced pluripotent stem cell line (NCKDi001-A) from a 19-year-old patient with a novel COL4A5 gene mutation in Alport syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "Stem cell research"
DOI: 10.1016/j.scr.2020.102023
Abstract: The clinical manifestations of Alport syndrome may vary depending on the involved organs such as the kidneys, cochlea and eyes. The pathogenic genes involved are those encoding different chains of type IV collagen. We collected… read more here.
Keywords: col4a5 gene; gene mutation; novel col4a5; patient novel ... See more keywords
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