Expression of type IV collagen .ALPHA.3 and .ALPHA.4 chains in X-linked Alport syndrome.
نویسندگان
چکیده
منابع مشابه
X-linked Alport syndrome
X-linked Alport syndrome (AS) is a heritable disorder which is associated with mutations in the type IV collagen oc5(IV) chain gene (COL4A5) located on chromosome X. Following renal transplantation, an average of 6% of male AS patients develop anti-GBM nephritis. We studied the specificity of the antibodies against type IV collagen in the serum of a patient with COL4A5 partial deletion. The spe...
متن کاملPrognostic value of glomerular collagen IV immunofluorescence studies in male patients with X-linked Alport syndrome.
BACKGROUND AND OBJECTIVES X-linked Alport syndrome (X-AS) is caused by mutations of the COL4A5 gene, which encodes for the collagen IV α5 chain (α5[COLIV]), resulting in structural and functional abnormalities of the glomerular basement membrane (GBM) and leading to CKD. The aim of the present study was to evaluate the prognostic value of residual collagen IV chain expression in the GBM of pati...
متن کاملType IV collagen of the glomerular basement membrane. Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains.
The ultrafiltration function of the glomerular basement membrane (GBM) of the kidney is impaired in genetic and acquired diseases that affect type IV collagen. The GBM is composed of five (alpha1 to alpha5) of the six chains of type IV collagen, organized into an alpha1.alpha2(IV) and an alpha3.alpha4.alpha5(IV) network. In Alport syndrome, mutations in any of the genes encoding the alpha3(IV),...
متن کاملQuantitative analysis of type IV collagen subchains in the glomerular basement membrane of patients with Alport syndrome with confocal microscopy.
BACKGROUND Alport syndrome (AS) is an inherited nephropathy characterized by glomerular basement membrane (GBM) abnormalities due to mutations in the type IV collagen genes. Through immunofluorescence analysis, the absence of alpha3(IV), alpha4(IV) and alpha5(IV) chains within the GBM has been shown in the majority of AS cases. In some atypical AS cases, however, staining of the GBM with antibo...
متن کاملThe renal lesions of Alport syndrome.
Alport syndrome is a hereditary, progressive, hematuric nephropathy characterized by glomerular basement membrane abnormalities with frequent hearing defects and ocular anomalies. The disease is associated with mutations in genes encoding the alpha3, alpha4, or alpha5 chains of type IV collagen, COL4A3, or COL4A4 in the autosomal forms of the disease, COL4A5 in the more frequent X-linked variet...
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ژورنال
عنوان ژورنال: Nihon Shoni Jinzobyo Gakkai Zasshi
سال: 1995
ISSN: 1881-3933,0915-2245
DOI: 10.3165/jjpn.8.129