{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Nie M"],"funding":["NIDDK NIH HHS"],"pagination":["3447-3458"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5084893"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(11)"],"pubmed_abstract":["Hypercalciuria is a major risk factor for nephrolithiasis. We previously reported that Uromodulin (UMOD) protects against nephrolithiasis by upregulating the renal calcium channel TRPV5. This channel is crucial for calcium reabsorption in the distal convoluted tubule (DCT). Recently, mutations in the gene encoding Mucin-1 (MUC1) were found to cause autosomal dominant tubulointerstitial kidney disease, the same disease caused by UMOD mutations. Because of the similarities between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a cellular barrier, we examined whether urinary MUC1 also enhances TRPV5 channel activity and protects against nephrolithiasis. We established a semiquantitative assay for detecting MUC1 in human urine and found that, compared "],"journal":["Journal of the American Society of Nephrology : JASN"],"pubmed_title":["Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients."],"pmcid":["PMC5084893"],"funding_grant_id":["R01 DK099478","K08 DK095994"],"pubmed_authors":["Bal MS","Yang Z","Liu J","Wenzel A","Rivera C","Marciano DK","Sakhaee K","Nie M","Beck BB","Wolf MT"],"additional_accession":[]},"is_claimable":false,"name":"Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients.","description":"Hypercalciuria is a major risk factor for nephrolithiasis. We previously reported that Uromodulin (UMOD) protects against nephrolithiasis by upregulating the renal calcium channel TRPV5. This channel is crucial for calcium reabsorption in the distal convoluted tubule (DCT). Recently, mutations in the gene encoding Mucin-1 (MUC1) were found to cause autosomal dominant tubulointerstitial kidney disease, the same disease caused by UMOD mutations. Because of the similarities between UMOD and MUC1 regarding associated disease phenotype, protein structure, and function as a cellular barrier, we examined whether urinary MUC1 also enhances TRPV5 channel activity and protects against nephrolithiasis. We established a semiquantitative assay for detecting MUC1 in human urine and found that, compared ","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Nov","modification":"2026-03-16T15:33:51.466Z","creation":"2019-03-27T02:27:46Z"},"accession":"S-EPMC5084893","cross_references":{"pubmed":["27036738"],"doi":["10.1681/ASN.2015101100","10.1681/asn.2015101100"]}}