PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 28894234-7 2017 UMOD methylation level was shown to be significantly correlated with the serum level of uric acid (UA) (r = -0.208, P = 0.035). Uric Acid 88-97 uromodulin Homo sapiens 0-4 31065383-8 2019 Urinary uromodulin levels were significantly lower in CKD cases compared to both controls and first-degree relatives and correlated negatively with age, serum uric acid, serum creatinine, and systolic BP and positively with CKD-EPI eGFR. Uric Acid 159-168 uromodulin Homo sapiens 8-18 28894234-7 2017 UMOD methylation level was shown to be significantly correlated with the serum level of uric acid (UA) (r = -0.208, P = 0.035). Uric Acid 99-101 uromodulin Homo sapiens 0-4 16861244-0 2006 Does Tamm-Horsfall protein-uric acid binding play a significant role in urate homeostasis? Uric Acid 27-36 uromodulin Homo sapiens 5-26 27795632-1 2016 Familial juvenile hyperuricemic nephropathy (FJHN), characterized by early-onset hyperuricemia, reduced fractional excretion of uric acid, and chronic renal failure is caused due to mutation in uromodulin (UMOD) gene. Uric Acid 128-137 uromodulin Homo sapiens 194-204 25417683-1 2014 We report 2 cases of familial juvenile hyperuricemic nephropathy, a rare autosomal dominant disorder characterized by uromodulin gene mutations leading to hyperuricemia secondary to profound renal uric acid underexcretion, gout, and chronic renal disease. Uric Acid 197-206 uromodulin Homo sapiens 118-128 18349750-10 2008 Elucidation of the mechanisms of hyperuricemia in patients with familial juvenile hyperuricemic nephropathy will shed light on the function of uromodulin, functional impairment of which eventually results in diminished uric acid excretion. Uric Acid 219-228 uromodulin Homo sapiens 143-153 27898524-5 2017 Greater uromodulin excretion is associated with markers of volume overload such as fractional excretion of uric acid, sodium and chloride, indicating a possible role in salt and water retention. Uric Acid 107-116 uromodulin Homo sapiens 8-18 26810206-6 2016 RESULTS: In a 46-year-old female patient with a fractional excretion of uric acid of 3 %, analysis of the UMOD gene revealed a p.W202S missense mutation. Uric Acid 72-81 uromodulin Homo sapiens 106-110 26810206-10 2016 Genetic analysis identified a novel p.H250Q UMOD mutation that was also present in her 12-year-old son, who had normal renal function and uric acid levels. Uric Acid 138-147 uromodulin Homo sapiens 44-48 26810206-11 2016 CONCLUSION: In patients suffering from chronic tubulointerstitial nephropathy, hyperuricemia, and a low fractional excretion of uric acid mutation, analysis of the UMOD gene should be performed to diagnose UMOD-associated kidney disease. Uric Acid 128-137 uromodulin Homo sapiens 164-168 26683887-8 2016 The fractional excretions of urate and sodium showed a strong positive correlation with uromodulin, likely linked to the extracellular volume status. Uric Acid 29-34 uromodulin Homo sapiens 88-98 26683887-9 2016 The presence of glycosuria and the use of uricosuric drugs, which both increased the fraction excretion of urate, were independently associated with a lower uromodulin excretion, suggesting novel interactions between uric acid and uromodulin excretion. Uric Acid 217-226 uromodulin Homo sapiens 157-167 26683887-11 2016 The strongest associations were between uric acid, sodium, and uromodulin excretions and are likely linked to the extracellular volume status. Uric Acid 40-49 uromodulin Homo sapiens 63-73 23344472-0 2013 Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. Uric Acid 95-104 uromodulin Homo sapiens 37-47 23344472-1 2013 Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. Uric Acid 160-169 uromodulin Homo sapiens 0-10 23344472-1 2013 Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. Uric Acid 160-169 uromodulin Homo sapiens 12-16 23344472-1 2013 Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. Uric Acid 226-235 uromodulin Homo sapiens 0-10 23344472-1 2013 Uromodulin (UMOD) genetic variants cause familial juvenile hyperuricemic nephropathy, characterized by hyperuricemia with decreased renal excretion of UMOD and uric acid, suggesting a role for UMOD in the regulation of plasma uric acid. Uric Acid 226-235 uromodulin Homo sapiens 12-16 23344472-5 2013 UMOD promoter variants displayed reciprocal effects on urine uric acid excretion and plasma uric acid concentration, suggesting a primary effect on renal tubular handling of urate. Uric Acid 61-70 uromodulin Homo sapiens 0-4 23344472-5 2013 UMOD promoter variants displayed reciprocal effects on urine uric acid excretion and plasma uric acid concentration, suggesting a primary effect on renal tubular handling of urate. Uric Acid 92-101 uromodulin Homo sapiens 0-4 23344472-5 2013 UMOD promoter variants displayed reciprocal effects on urine uric acid excretion and plasma uric acid concentration, suggesting a primary effect on renal tubular handling of urate. Uric Acid 174-179 uromodulin Homo sapiens 0-4 23344472-6 2013 These UMOD genetic marker-on-trait associations for uric acid were replicated in the independent American cohort. Uric Acid 52-61 uromodulin Homo sapiens 6-10 23344472-8 2013 Thus, UMOD promoter variants seem to initiate a cascade of transcriptional and biochemical changes influencing UMOD secretion, leading to altered plasma uric acid levels. Uric Acid 153-162 uromodulin Homo sapiens 6-10 23344472-8 2013 Thus, UMOD promoter variants seem to initiate a cascade of transcriptional and biochemical changes influencing UMOD secretion, leading to altered plasma uric acid levels. Uric Acid 153-162 uromodulin Homo sapiens 111-115 22157498-7 2012 Genetic studies of urate transportation and of uromodulin-related nephropathy emphasize the pivotal importance of the proximal tubule in uric acid homeostasis. Uric Acid 137-146 uromodulin Homo sapiens 47-57 16861244-0 2006 Does Tamm-Horsfall protein-uric acid binding play a significant role in urate homeostasis? Uric Acid 72-77 uromodulin Homo sapiens 5-26 16861244-3 2006 However, it remains unclear how a mutation in THP, a protein produced in the thick ascending limb, can cause hyperuricaemia when most of the uric acid transport is believed to occur in the proximal tubule. Uric Acid 141-150 uromodulin Homo sapiens 46-49 16861244-5 2006 Thus, an attractive hypothesis could be that THP would bind to uric acid in the distal tubule, and decrease its subsequent reabsorption in the distal nephron. Uric Acid 63-72 uromodulin Homo sapiens 45-48 16861244-6 2006 METHODS: We screened for uric acid binding to THP using four independent binding assays. Uric Acid 25-34 uromodulin Homo sapiens 46-49 12629136-8 2003 The results of our studies, which have identified the gene causing FJHN, now indicate a further, novel role for UROMODULIN in urate metabolism. Uric Acid 126-131 uromodulin Homo sapiens 112-122 20301530-5 1993 The majority of persons with ADTKD-UMOD have the following laboratory test abnormalities: elevated serum creatinine (decreased estimated glomerular filtration rate), bland urinary sediment, elevated serum urate level, and reduced fractional excretion of uric acid. Uric Acid 205-210 uromodulin Homo sapiens 35-39 20301530-5 1993 The majority of persons with ADTKD-UMOD have the following laboratory test abnormalities: elevated serum creatinine (decreased estimated glomerular filtration rate), bland urinary sediment, elevated serum urate level, and reduced fractional excretion of uric acid. Uric Acid 254-263 uromodulin Homo sapiens 35-39 12787393-8 2003 The cardinal clinical features in individuals with the uromodulin mutation included hyperuricemia, decreased fractional excretion of uric acid, and chronic interstitial renal disease leading to end-stage renal disease (ESRD) in the fifth through seventh decade. Uric Acid 133-142 uromodulin Homo sapiens 55-65 12787393-10 2003 CONCLUSION: Mutation of the uromodulin gene resulted in hyperuricemia, reduced fractional excretion of uric acid, and renal failure. Uric Acid 103-112 uromodulin Homo sapiens 28-38 32847529-1 2020 BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. Uric Acid 221-226 uromodulin Homo sapiens 107-111 32847529-1 2020 BACKGROUND: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by a pathogenic variant in UMOD (ADTKD-UMOD) is a rare group of diseases characterized by hyperuricaemia with decreased urinary excretion of urate, gout and progressive chronic kidney disease. Uric Acid 221-226 uromodulin Homo sapiens 113-123