Identification of variant Alport phenotypes using an Alport-specific antibody probe

Identification of variant Alport phenotypes using an Alport-specific antibody probe. An antibody, which recognizes an epitope(s) on a 26 kD peptide of the noncollagenous domain of type IV collagen and which fails to bind to basement membranes of individuals with Alport syndrome, was used to characte...

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Veröffentlicht in:Kidney international 1989-10, Vol.36 (4), p.669-674
Hauptverfasser: Kashtan, Clifford E., Atkin, Curtis L., Gregory, Martin C., Michael, Alfred F.
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container_issue 4
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container_title Kidney international
container_volume 36
creator Kashtan, Clifford E.
Atkin, Curtis L.
Gregory, Martin C.
Michael, Alfred F.
description Identification of variant Alport phenotypes using an Alport-specific antibody probe. An antibody, which recognizes an epitope(s) on a 26 kD peptide of the noncollagenous domain of type IV collagen and which fails to bind to basement membranes of individuals with Alport syndrome, was used to characterize members of families representing phenotypic variants of the disorder. Ten of 11 families with juvenile-onset renal failure and 4 of 5 families with adult-onset renal failure exhibited loss of the epitope(s) from epidermal and/or renal basement membranes by indirect immunofluorescence. Two families with typical Alport nephropathy but normal hearing exhibited the same abnormality. This study provides strong evidence that a defect in the main noncollagenous domain of type IV collagen is common to the various phenotypes of Alport syndrome.
doi_str_mv 10.1038/ki.1989.244
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subjects Antibodies - immunology
Autoantibodies
Basement Membrane - immunology
Collagen - genetics
Epitopes - genetics
Female
Fluorescent Antibody Technique
Humans
Kidney Glomerulus - immunology
Male
Nephritis, Hereditary - genetics
Nephritis, Hereditary - immunology
Phenotype
title Identification of variant Alport phenotypes using an Alport-specific antibody probe
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