Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease
نویسندگان
چکیده
منابع مشابه
Association between genotype and phenotype in uromodulin-associated kidney disease.
BACKGROUND AND OBJECTIVES Uromodulin-associated kidney disease (UAKD) is an autosomal dominant disease caused by uromodulin (UMOD) gene mutations. This study explored genotype-phenotype correlations by examining the relationship between the type of UMOD mutation and the age at onset of ESRD. DESIGN, SETTING, PARTICIPANTS & MEASUREMENTS Extensive bibliographic research was used to ascertain pa...
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متن کاملUromodulin and Chronic Kidney Disease
Uromodulin (Tamm-Horsfall protein) is produced in the kidney by cells of the thick ascending limb and distal tubule. Recent genetic studies suggest a role of uromodulin in chronic kidney disease. Mutations in the UMOD gene cause uromodulin storage disease. They code for amino acid substitutions that lead to misfolding of the molecule and its retention in the endoplasmic reticulum. Single nucleo...
متن کاملUromodulin and Chronic Kidney Disease
Uromodulin (Tamm-Horsfall protein) is produced in the kidney by cells of the thick ascending limb and distal tubule. Recent genetic studies suggest a role of uromodulin in chronic kidney disease. Mutations in the UMOD gene cause uromodulin storage disease. They code for amino acid substitutions that lead to misfolding of the molecule and its retention in the endoplasmic reticulum. Single nucleo...
متن کاملUromodulin and chronic kidney disease.
Uromodulin (Tamm-Horsfall protein) is produced in the kidney by cells of the thick ascending limb and distal tubule. Recent genetic studies suggest a role of uromodulin in chronic kidney disease. Mutations in the UMOD gene cause uromodulin storage disease. They code for amino acid substitutions that lead to misfolding of the molecule and its retention in the endoplasmic reticulum. Single nucleo...
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ژورنال
عنوان ژورنال: Clinical Journal of the American Society of Nephrology
سال: 2013
ISSN: 1555-9041,1555-905X
DOI: 10.2215/cjn.11151012