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Alport Syndrome

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3 papers 0 to 25 followers
By P O Pediatrics, Nephrology
https://www.readbyqxmd.com/read/26934356/efficient-targeted-next-generation-sequencing-based-workflow-for-differential-diagnosis-of-alport-related-disorders
#1
Gábor Kovács, Tibor Kalmár, Emőke Endreffy, Zoltán Ondrik, Béla Iványi, Csaba Rikker, Ibolya Haszon, Sándor Túri, Mária Sinkó, Csaba Bereczki, Zoltán Maróti
Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired. Practically, this means the identification of mutation(s) in COL4A3-A4-A5 genes. We used an efficient, next generation sequencing based workflow for simultaneous analysis of all three COL4A genes in three individuals and fourteen families involved by AS or showing different level of Alport-related symptoms...
2016: PloS One
https://www.readbyqxmd.com/read/26833262/a-novel-col4a4-mutation-identified-in-a-chinese-family-with-thin-basement-membrane-nephropathy
#2
Yan Xu, Min Guo, Hui Dong, Wei Jiang, Ruixia Ma, Shiguo Liu, Shenqian Li
Thin basement membrane nephropathy (TBMN) is often attributable to mutations in the COL4A3 or COL4A4 genes that encode the α3 and α4 chains of type IV collagen, respectively, a major structural protein in the glomerular basement membrane. The aim of this study was to explore a new disease-related genetic mutation associated with the clinical phenotype observed in a Chinese Han family with autosomal dominant TBMN. We conducted a clinical and genetic study comprising seven members of this TBMN family. Mutation screening for COL4A3 and COL4A4 was carried out by direct sequencing...
2016: Scientific Reports
https://www.readbyqxmd.com/read/25755845/col4a4-gene-study-of-a-european-population-description-of-new-mutations-causing-autosomal-dominant-alport-syndrome
#3
Consolación Rosado, Elena Bueno, Carmen Felipe, Rogelio González-Sarmiento
BACKGROUND: Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropathy may affect up to 1% of the population. The pattern of inheritance in the 40% of cases is the same as autosomal dominant Alport syndrome: heterozygous mutations in these genes. The aim of this study is to detect new pathogenic mutations in the COL4A4 gene in the patients previously diagnosed with autosomal Alport syndrome and thin basement membrane nephropathy in our hospital...
2014: International Journal of Molecular Epidemiology and Genetics
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