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Abbreviation : UMOD
Long Form : uromodulin
No. Year Title Co-occurring Abbreviation
2020 Association of serum uromodulin with mortality and cardiovascular disease in the elderly-the Cardiovascular Health Study. CI, CVD, eGFR, HF, HR, SD
2020 Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening. ACE, ACTN4, MRI, NPHS2, PLCE1, WT1
2020 The cryo-EM structure of the human uromodulin filament core reveals a unique assembly mechanism. ZP
2020 Uromodulin to Osteopontin Ratio in Deceased Donor Urine is Associated with Kidney Graft Outcomes. aHR, DCGF, DGF, GF, MHC-II, OPN
2020 Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia. CKD, FJHN, PAX2, RCS, REN, WGS
2019 A novel UMOD gene mutation associated with chronic kidney failure at a young age. ADTKD
2019 Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology. ACTN4, CRELD2, ER, LAMB2, MANF, NGS
2019 Serum uromodulin is associated with the severity of clinicopathological findings in ANCA-associated glomerulonephritis. AAG, sUMOD, uUMOD
2019 The Association of Uromodulin Genotype with Renal Cancer Aggressiveness. CC, RCC, TT
10  2019 The relationships between markers of tubular injury and intrarenal haemodynamic function in adults with and without type 1 diabetes: Results from the Canadian Study of Longevity in Type 1 Diabetes. B2M, DKD, ERPF, GFR, NGAL, OPN, RA, RVR, T1D
11  2019 Urinary Uromodulin Levels and UMOD Variants in Black South Africans with Hypertension-Attributed Chronic Kidney Disease. CKD, SNP
12  2019 Uromodulin in mineral metabolism. DCT, NKCC2, TAL, TRPM6
13  2018 Blood HER2 and Uromodulin as Causal Mediators of CKD. ACE, HER2, MR, OR, ORIGIN
14  2018 Effect of UMOD genotype on long-term graft survival after kidney transplantation in patients treated with cyclosporine-based therapy. ---
15  2018 Isolation and characterization of human urine extracellular vesicles. Con A, DPEP1, ECV, G3-BP, VPS4A
16  2018 Tamm-Horsfall Protein is a Potent Immunomodulatory Molecule and a Disease Biomarker in the Urinary System. EGF, IL, THP, TNF
17  2018 Urinary neutrophil gelatinase-associated lipocalin, kidney injury molecule-1, uromodulin, and cystatin C concentrations in an experimental rat model of ascending acute kidney injury induced by pyelonephritis. AKI, CysC, KIM-1, NGAL
18  2018 Uromodulin regulates renal magnesium homeostasis through the ion channel transient receptor potential melastatin 6 (TRPM6). DCT, TRPM6
19  2017 A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. ADTKD, ER
20  2017 Elevated UMOD methylation level in peripheral blood is associated with gout risk. AUC, PMR, qMSP, UA
21  2017 Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease. MCKD, MUC1, PCR, VNTR
22  2017 Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD). ADTKD-UMOD, ER, TAL, UPR
23  2017 Uromodulin associates with cardiorenal function in patients with hypertension and cardiovascular disease. BP, eGFR, SNP
24  2017 Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. UAKD
25  2016 A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy. FJHN
26  2016 A structured interdomain linker directs self-polymerization of human uromodulin. GP2, TECTA
27  2016 Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find. ---
28  2016 First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. FJHN, UAKD
29  2016 From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis. ADTKD, FJHN, MCKD
30  2016 Hints to the diagnosis of uromodulin kidney disease. THP, UKD
31  2016 Identification of an NPHP1 deletion causing adult form of nephronophthisis. ESRD, MLPA, NPHP, NPHP1
32  2016 Longitudinal patterns of urine biomarkers in infants across gestational ages. AKI, ALB, B2M, CysC, EGF, GA, GFR, NGAL, OPN, ROC AUC
33  2016 Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients. DCT, MUC1, VNTRs
34  2016 Transcriptome Sequencing (RNAseq) Enables Utilization of Formalin-Fixed, Paraffin-Embedded Biopsies with Clear Cell Renal Cell Carcinoma for Exploration of Disease Biology and Biomarker Development. CA9, ccRCC, EMT, FFPE, NPTX2
35  2015 A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction. UAKD
36  2015 Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. HNF1B, KDIGO, MUC1, REN
37  2015 Functional analysis of UMOD gene and its effect on inflammatory cytokines in serum of essential hypertension patients. ---
38  2015 Single-nucleotide polymorphism of the UMOD promoter is associated with the outcome of chronic kidney disease patients. CKD, SNPs, UAKD
39  2015 Urinary biomarkers at early ADPKD disease stage. ADPKD, CC16, eGFR, htTKV, KIM-1, NGAL, UACR
40  2015 Uromodulin: from monogenic to multifactorial diseases. CKD, TAL, UAKDs
41  2014 Development of highly sensitive and specific mRNA multiplex system (XCYR1) for forensic human body fluids and tissues identification. CST6, DCD, GAPDH, GLY, HBB, hBD1, HTN3, KRT4, LOR, MUC4, PBGD, PRM2, RT, STATH, TGM4
42  2014 No amelioration of uromodulin maturation and trafficking defect by sodium 4-phenylbutyrate in vivo: studies in mouse models of uromodulin-associated kidney disease. 4-PBA
43  2014 The signaling pathway of uromodulin and its role in kidney diseases. ---
44  2014 Unilateral hypoplastic kidney - a novel highly penetrant feature of familial juvenile hyperuricaemic nephropathy. HNF-1beta, REN
45  2014 Urine uromodulin estimation in partial bladder outlet obstruction and cyclophosphamide-induced haemorrhagic cystitis models in rats. CP-HC, PBOO
46  2014 Validation of uromodulin as a candidate gene for human essential hypertension. KO, WT
47  2014 Wild-type uromodulin prevents NFkB activation in kidney cells, while mutant uromodulin, causing FJHU nephropathy, does not. IL, RT-PCR
48  2013 Association between genotype and phenotype in uromodulin-associated kidney disease. UAKD
49  2013 Chronic kidney disease in an adolescent with hyperuricemia: familial juvenile hyperuricemic nephropathy. CKD, FJHN
50  2013 Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels. ---
51  2013 Elucidation of the distal convoluted tubule transcriptome identifies new candidate genes involved in renal Mg(2+) handling. DCT, PCBD1, Slc41a3, Tbc1d4, Trpm6
52  2013 Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice. UAKD
53  2013 Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice. ER, TALH, UAKD
54  2013 Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis. UAKD
55  2012 A Japanese Family Suffering from Familial Juvenile Hyperuricemic Nephropathy due to a Rare Mutation of the Uromodulin Gene. FJHN
56  2012 Common variants of the UMOD promoter associated with blood pressure in a community-based Chinese cohort. BP, DBP
57  2012 Hyperuricemia, gout and the kidney. FJHN, GFR
58  2012 Novel uromodulin mutation in familial juvenile hyperuricemic nephropathy. FJHN, GPI
59  2012 Quercetin regulates organic ion transporter and uromodulin expression and improves renal function in hyperuricemic mice. mURAT1
60  2012 Urine biomarkers predict acute kidney injury in newborns. AKI, AUC
61  2012 Uromodulin and alpha(1)-antitrypsin urinary peptide analysis to differentiate glomerular kidney diseases. A1AT, GKD
62  2011 Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. HNF-1beta, REN, SLC8A1, SNP
63  2011 Urinary UMOD excretion and chronic kidney disease in gout patients: cross-sectional case-control study. CKD
64  2011 Uromodulin gene variant is associated with type 2 diabetic nephropathy. BMI, CI, CKD, eGFR, OR
65  2011 Uromodulin in renal transplant recipients: elevated urinary levels and bimodal association with graft failure. CKD, GF, RTR
66  2010 A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea. ---
67  2010 A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level. EUROSPAN, GABRR2, Sc r, SCHROOM3, Syt1, UBE2J1
68  2010 Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. eGFR
69  2010 Integrative urinary peptidomics in renal transplantation identifies biomarkers for acute rejection. AR
70  2010 Uromodulin biology and pathophysiology--an update. ---
71  2010 Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. MCKD2
72  2009 Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT). CAKUT, FJHN, GCKD, PCR, SNPs
73  2009 Novel missense mutation of uromodulin in mice causes renal dysfunction with alterations in urea handling, energy, and bone metabolism. ---
74  2008 Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. ---
75  2008 Progressive accumulation of intrinsic mouse uromodulin in the kidneys of transgenic mice harboring the mutant human uromodulin gene. FJHN, MCKD2
76  2008 [Primary hyperuricemia due to decreased renal uric acid excretion]. OAT, URAT
77  2007 The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect. FJHN, MCKD2, PCR
78  2005 Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. FJHN, MCKD1, UAKD
79  2004 Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. FJHN, HNF-1beta, LOD, MCKD1
80  2004 Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy. GP2
81  2004 Mutations in the uromodulin gene decrease urinary excretion of Tamm-Horsfall protein. ELISA, GFR, THP
82  2003 Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains. FJHN, MCKD2, PCR
83  2003 Nephronophthisis-medullary cystic kidney disease: from bedside to bench and back again. ESRD, FJHN, MCKD, NPH
84  2002 Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. FJHN, MCKD2
85  1993 Isolation of kidney complementary DNAs down-expressed in Wilms' tumor by a subtractive hybridization approach. ---