Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

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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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Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...

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Uromodulin 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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Uromodulin 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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Uromodulin 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