نتایج جستجو برای: uromodulin
تعداد نتایج: 340 فیلتر نتایج به سال:
Uromodulin-associated kidney disease (UAKD) is a dominant heritable renal disease in humans which is caused by mutations in the uromodulin (UMOD) gene and characterized by heterogeneous clinical appearance. To get insights into possible causes of this heterogeneity of UAKD, we describe the new mutant mouse line Umod(C93F), leading to disruption of a putative disulfide bond which is also absent ...
The kidney is centrally involved in blood pressure regulation and undergoes extensive changes during pregnancy. Hypertension during pregnancy may result in an altered urinary peptidome that could be used to indicate new targets of therapeutic or diagnostic interest. The stroke-prone spontaneously hypertensive rat (SHRSP) is a model of maternal chronic hypertension. Capillary electrophoresis-mas...
Uromodulin storage diseases are characterized by hyperuricemia of underexcretion type and renal insufficiency. Although these diseases are caused by mutations in the UMOD gene that encodes the kidney-specific glycoprotein uromodulin, the effect of uromodulin mutation on the kidney has not been clearly established. In this study, we investigated the effect by comparing transgenic mice expressing...
Heterozygous mutations in UMOD encoding the urinary protein uromodulin are the most common genetic cause of autosomal dominant tubulointerstitial kidney disease (ADTKD). We describe the exceptional case of a patient from a consanguineous family carrying a novel homozygous UMOD mutation (p.C120Y) affecting a conserved cysteine residue within the EGF-like domain III of uromodulin. Comparison of h...
Recent studies suggest that uromodulin plays an important role in chronic kidney diseases. It can interact with several complement components, various cytokines and immune system cells. Complement factor H (CFH), as a regulator of the complement alternative pathway, is also associated with various renal diseases. Thus, we have been suggested that uromodulin regulates complement activation by in...
Uromodulin is well-known to be the more potent immunosuppressive glycoprotein isolated from pregnant women urine, compared to its counterpart, Tamm-Horsfall glycoprotein (THP) isolated from non-pregnant women/male urine. However, structural profiles of these glycoproteins were controversial until today. Hence, this paper aims to identify the pregnancy associated glycosylation changes of THP and...
Uromodulin, also known as Tamm-Horsfall glycoprotein (THG), derived from human pregnancy urine, is a monomeric glycoprotein of 85 kDa. It is produced in the thick ascending limb (TAL) and early distal convoluted tubule (DCT) and is excreted in large amounts in urine. The immunosuppressive property of Uromodulin is based on its glycosylation pattern that is different THG obtained from males and ...
Uromodulin is the most abundant protein in the urine. It is exclusively produced by renal epithelial cells and it plays key roles in kidney function and disease. Uromodulin mainly exerts its function as an extracellular matrix whose assembly depends on a conserved, specific proteolytic cleavage leading to conformational activation of a Zona Pellucida (ZP) polymerisation domain. Through a compre...
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...
Uromodulin is the most abundant urine protein under physiological conditions. It has recently been described as a serum and plasma marker for kidney disease. Whether uromodulin is associated with impaired glucose metabolism is unknown.We therefore measured serum uromodulin and glucose traits in a cohort of 529 consecutively recruited patients.Serum uromodulin was significantly and inversely cor...
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