| Familial nephropathy and multiple exostoses with exostosin-1 (EXT1) gene mutation. | |
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MedLine Citation:
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PMID: 18216313 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Glomerular deposition of fibrillar collagen is a characteristic finding of genetically distinct conditions, including nail-patella syndrome and collagen type III glomerulopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses due to mutation of the EXT1 gene is described. This gene encodes a glycosyltransferase required for synthesis of heparan sulfate glycosaminoglycans. There is deficiency of heparan sulfate and perlecan, together with accumulation of collagens, in the matrix of EXT1-associated osteochondromas. Similar glomerular basement membrane abnormalities could offer an explanation for both the renal ultrastructural changes and steroid-sensitive nephrotic syndrome. |
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Authors:
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Ian S D Roberts; Jonathan M Gleadle |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2008-01-23 |
Journal Detail:
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Title: Journal of the American Society of Nephrology : JASN Volume: 19 ISSN: 1533-3450 ISO Abbreviation: J. Am. Soc. Nephrol. Publication Date: 2008 Mar |
Date Detail:
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Created Date: 2008-02-29 Completed Date: 2008-03-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9013836 Medline TA: J Am Soc Nephrol Country: United States |
Other Details:
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Languages: eng Pagination: 450-3 Citation Subset: IM |
Affiliation:
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Department of Cellular Pathology, John Radcliffe Hospital, Headley Way, Headington, Oxford OX3 9DU, United Kingdom. ian.roberts@orh.nhs.uk |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Diagnosis, Differential Exostoses, Multiple Hereditary / complications, genetics* Female Frameshift Mutation Humans Kidney Glomerulus / pathology, physiopathology N-Acetylglucosaminyltransferases / genetics* Nail-Patella Syndrome / diagnosis Nephrotic Syndrome / complications, genetics*, pathology, physiopathology |
| Chemical | |
Reg. No./Substance:
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EC 2.4.1.-/N-Acetylglucosaminyltransferases; EC 2.4.1.224/exostosin-1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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