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 |
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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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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. 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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.</description><subject>Antibodies - immunology</subject><subject>Autoantibodies</subject><subject>Basement Membrane - immunology</subject><subject>Collagen - genetics</subject><subject>Epitopes - genetics</subject><subject>Female</subject><subject>Fluorescent Antibody Technique</subject><subject>Humans</subject><subject>Kidney Glomerulus - immunology</subject><subject>Male</subject><subject>Nephritis, Hereditary - genetics</subject><subject>Nephritis, Hereditary - immunology</subject><subject>Phenotype</subject><issn>0085-2538</issn><issn>1523-1755</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1989</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkLtPwzAQxi0EgvKYmBGZWFCKH3ESj6jiUQmJAZgtx76AaWsH26nU_55EqZiYTnff777TfQhdEjwnmNV3KzsnohZzWhQHaEY4ZTmpOD9EM4xrnlPO6hN0GuM3HnrB8DE6pkVVV5zO0NvSgEu2tVol613m22yrglUuZffrzoeUdV_gfNp1ELM-WveZKbeX8tiBHleHUbKNN7usC76Bc3TUqnWEi309Qx-PD--L5_zl9Wm5uH_JNRMk5Ua3pOG4bAynglHaMlUJaApsSqCF5rwyRaWV4WVDC1EaTKk2ilFmSKlYq9gZupl8h6s_PcQkNzZqWK-VA99HWQkqakLoAN5OoA4-xgCt7ILdqLCTBMsxQrmycoxQDhEO9NXetm82YP7YfWaDfj3pTqU-wJ--sqPF5MAnAobvtxaCjNqC02BsAJ2k8fbfy7-Ho4nb</recordid><startdate>19891001</startdate><enddate>19891001</enddate><creator>Kashtan, Clifford E.</creator><creator>Atkin, Curtis L.</creator><creator>Gregory, Martin C.</creator><creator>Michael, Alfred F.</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19891001</creationdate><title>Identification of variant Alport phenotypes using an Alport-specific antibody probe</title><author>Kashtan, Clifford E. ; Atkin, Curtis L. ; Gregory, Martin C. ; Michael, Alfred F.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c391t-dcf1b506bd529322f3a79eb40d6e24c557d47cad56b2496d022cda323d16a3fa3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1989</creationdate><topic>Antibodies - immunology</topic><topic>Autoantibodies</topic><topic>Basement Membrane - immunology</topic><topic>Collagen - genetics</topic><topic>Epitopes - genetics</topic><topic>Female</topic><topic>Fluorescent Antibody Technique</topic><topic>Humans</topic><topic>Kidney Glomerulus - immunology</topic><topic>Male</topic><topic>Nephritis, Hereditary - genetics</topic><topic>Nephritis, Hereditary - immunology</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Kashtan, Clifford E.</creatorcontrib><creatorcontrib>Atkin, Curtis L.</creatorcontrib><creatorcontrib>Gregory, Martin C.</creatorcontrib><creatorcontrib>Michael, Alfred F.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Kidney international</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Kashtan, Clifford E.</au><au>Atkin, Curtis L.</au><au>Gregory, Martin C.</au><au>Michael, Alfred F.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of variant Alport phenotypes using an Alport-specific antibody probe</atitle><jtitle>Kidney international</jtitle><addtitle>Kidney Int</addtitle><date>1989-10-01</date><risdate>1989</risdate><volume>36</volume><issue>4</issue><spage>669</spage><epage>674</epage><pages>669-674</pages><issn>0085-2538</issn><eissn>1523-1755</eissn><abstract>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.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>2478752</pmid><doi>10.1038/ki.1989.244</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
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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