Affinage

UMOD

Uromodulin · UniProt P07911

Length
640 aa
Mass
69.8 kDa
Annotated
2026-04-28
84 papers in source corpus 18 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

UMOD encodes uromodulin (Tamm-Horsfall glycoprotein), a GPI-anchored glycoprotein exclusively expressed in the thick ascending limb of Henle's loop that is proteolytically cleaved and released as the most abundant protein in normal urine, where it assembles into filament sheets that trap uropathogenic bacteria and regulates tubular ion transport. Wild-type uromodulin activates the sodium cotransporter NKCC2 to promote salt reabsorption—linking common UMOD promoter variants to salt-sensitive hypertension—and interacts with TRPV5 to modulate renal calcium handling (PMID:24185693, PMID:35251369). Missense mutations in UMOD, predominantly affecting cysteine residues in exon 4, cause misfolding and endoplasmic reticulum retention of uromodulin with consequent ER stress (UPR activation via BiP/CHOP), secondary mitochondrial dysfunction, inflammation, epithelial-to-myofibroblast transition, and progressive tubulointerstitial fibrosis, manifesting as autosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD), including familial juvenile hyperuricaemic nephropathy and medullary cystic kidney disease type 2 (PMID:12471200, PMID:21978600, PMID:28220896, PMID:35165522). Stimulation of autophagy promotes clearance of ER-retained mutant uromodulin aggregates and ameliorates downstream pathology in disease models (PMID:41632531, PMID:41885939).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 1993 Medium

    Establishing the genomic identity of UMOD: chromosomal mapping to 16p13.11 and confirmation of kidney-restricted expression provided the foundation for subsequent genetic studies.

    Evidence cDNA cloning, somatic cell hybrid panel for chromosomal localization, tissue RNA expression analysis

    PMID:8382593

    Open questions at the time
    • Protein function and processing pathway not yet characterized
    • Cell-type-specific expression within the kidney not resolved
  2. 2002 High

    Identification of UMOD as the causative gene for MCKD2 and FJHN resolved the genetic basis of these autosomal dominant kidney diseases and established that missense mutations disrupt uromodulin's tertiary structure.

    Evidence DNA sequencing of UMOD in multiple affected families with segregation analysis

    PMID:12471200

    Open questions at the time
    • Mechanism of pathogenicity (misfolding vs. loss of function) not yet distinguished
    • Intracellular fate of mutant protein unknown
  3. 2003 High

    Demonstrating that mutant uromodulin accumulates intracellularly in thick ascending limb cells rather than reaching the apical surface established a trafficking defect as the primary cellular consequence of UMOD mutations.

    Evidence Immunostaining of renal biopsies from FJHN patients; urinary uromodulin quantification

    PMID:14569098

    Open questions at the time
    • Subcellular compartment of retention not yet identified
    • Whether accumulation is directly cytotoxic or causes loss of extracellular function was unclear
  4. 2011 Medium

    Pinpointing the endoplasmic reticulum as the site of mutant uromodulin retention, with severity correlating to clinical phenotype, established ER retention and associated ER stress (GRP78/BiP upregulation) as the proximal disease mechanism in ADTKD-UMOD.

    Evidence In vitro cell culture trafficking assays with comparative mutations; immunohistochemistry for uromodulin and GRP78 in patient biopsies vs. controls

    PMID:21978600 PMID:22034507

    Open questions at the time
    • Downstream pathways connecting ER stress to tissue damage not yet mapped
    • Whether ER stress is sufficient to cause fibrosis was untested
  5. 2010 Medium

    Discovery that uromodulin localizes to primary cilia and that UMOD mutations reduce ciliary uromodulin expression raised the possibility of a ciliopathy component, though the functional significance of ciliary uromodulin remains unclear.

    Evidence Immunofluorescence and electron microscopy on human kidney biopsies and cell culture

    PMID:20172860

    Open questions at the time
    • Functional role of uromodulin in cilia not established
    • Whether ciliary loss is secondary to ER retention not resolved
    • Single-lab observation without independent replication
  6. 2013 High

    Establishing that uromodulin overexpression activates NKCC2-mediated sodium reabsorption in the thick ascending limb linked common UMOD risk variants to salt-sensitive hypertension and revealed the physiological function of secreted uromodulin in electrolyte handling.

    Evidence Transgenic mouse overexpression model; in vitro promoter assays; clinical pharmacogenomic study with loop diuretics stratified by UMOD genotype

    PMID:24185693

    Open questions at the time
    • Molecular mechanism by which uromodulin activates NKCC2 (direct interaction vs. indirect signaling) not defined
    • Whether NKCC2 activation occurs at the cell surface or during trafficking unknown
  7. 2017 Medium

    Proteomic and transcriptomic profiling of ADTKD-UMOD mouse kidneys revealed that ER stress from mutant uromodulin causes secondary mitochondrial dysfunction (impaired OXPHOS, reduced FIS1) and activates inflammatory and fibrotic gene programs before histological damage, establishing a temporal cascade from ER stress to tissue injury.

    Evidence Quantitative LC-MS/MS proteomics of TAL-enriched medulla; kidney transcriptional profiling at presymptomatic timepoints in Tg UmodC147W mice

    PMID:28220896 PMID:28785050

    Open questions at the time
    • Whether mitochondrial dysfunction is directly causative of fibrosis or an epiphenomenon not tested by intervention
    • Inflammatory mediator hierarchy not resolved
  8. 2022 Medium

    Multiple studies refined the disease mechanism: CHOP-mediated epithelial-to-myofibroblast transition was identified as a downstream effector of ER stress driving fibrosis; uromodulin was shown to interact with TRPV5 to regulate calcium handling; and intermediate-effect UMOD variants demonstrated a continuous spectrum of trafficking impairment and clinical severity.

    Evidence CHOP knockdown reversing EMT markers in tunicamycin-treated renal cells with patient biopsy validation; Co-IP and rescue experiments for UMOD-TRPV5 interaction; cell trafficking assays and population genetics for intermediate variant p.Thr62Pro

    PMID:35165522 PMID:35251369 PMID:35947615

    Open questions at the time
    • UMOD-TRPV5 interaction demonstrated by single Co-IP study without independent replication
    • Whether CHOP is necessary in vivo for ADTKD-UMOD fibrosis not tested genetically
    • Structural basis of UMOD-TRPV5 interaction unknown
  9. 2025 High

    Cryo-EM/ET structural analysis revealed that urinary uromodulin filaments laterally associate into salt-dependent 'velcro sheets' that entrap uropathogenic E. coli via type I pili, providing a structural basis for uromodulin's role in innate urinary tract defense.

    Evidence Cryo-electron tomography of UMOD filaments with UPEC; single-particle cryo-EM of sheet structures; mutagenesis of lateral interface in mammalian cells (preprint)

    Open questions at the time
    • Study is a preprint awaiting peer review
    • In vivo validation of sheet-mediated bacterial trapping not performed
    • Whether sheet formation is required for anti-bacterial defense versus polymer formation alone not distinguished
  10. 2026 Medium

    Autophagy stimulation (via calorie restriction or mTOR inhibition) was shown to clear ER-retained mutant uromodulin aggregates and ameliorate ER stress, inflammation, and fibrosis, while genetic deletion of the ER-stress-induced biomarker LCN2 did not prevent kidney damage, distinguishing therapeutic targets from disease biomarkers.

    Evidence Calorie restriction in Tg UmodC147W mice with autophagy and ER-phagy readouts; Torin1 treatment in mIMCD3 cells; Lcn2 knockout crossed with UmodR186S/+ knock-in mice

    PMID:41632531 PMID:41885939

    Open questions at the time
    • Pharmacological autophagy inducers not yet tested in clinical trials for ADTKD-UMOD
    • Whether ER-phagy versus bulk autophagy is the operative clearance pathway not genetically dissected
    • Long-term efficacy and safety of calorie restriction in patients unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular mechanism by which secreted uromodulin activates NKCC2, the structural basis of the UMOD-TRPV5 interaction, and whether pharmacological autophagy induction can treat ADTKD-UMOD in humans remain unresolved.
  • No direct binding site or activation mechanism for uromodulin-NKCC2 interaction defined
  • No high-resolution structure of full-length membrane-anchored uromodulin
  • No clinical trial data for autophagy-based therapy in ADTKD-UMOD

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 2 GO:0005198 structural molecule activity 1
Localization
GO:0005783 endoplasmic reticulum 4 GO:0005576 extracellular region 3 GO:0005886 plasma membrane 2 GO:0005929 cilium 1
Pathway
R-HSA-1643685 Disease 6 R-HSA-8953897 Cellular responses to stimuli 4 R-HSA-168256 Immune System 2 R-HSA-382551 Transport of small molecules 2 R-HSA-9612973 Autophagy 2
Partners
SLC12A1TRPV5

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 UMOD mutations (missense) cause misfolding of uromodulin protein, disrupting its tertiary structure and leading to medullary cystic kidney disease 2 (MCKD2) and familial juvenile hyperuricaemic nephropathy (FJHN); uromodulin is a GPI-anchored glycoprotein and the most abundant protein in normal urine. DNA sequencing of UMOD in affected families; genetic segregation analysis Journal of medical genetics High 12471200
2003 UMOD missense mutations cause accumulation of uromodulin within tubular cells (thick ascending limb) rather than apical secretion, resulting in markedly decreased urinary excretion of wild-type uromodulin; mutations cluster in exon 4. Immunostaining of renal biopsies; urinary uromodulin measurement in FJHN patients with confirmed UMOD mutations Journal of the American Society of Nephrology : JASN High 14569098
2010 Uromodulin (UMOD) is expressed in primary cilia of renal tubules; UMOD mutations result in a significantly decreased number of UMOD-positive primary cilia and UMOD colocalizes with ciliary proteins nephrocystin-1 and kinesin family member 3A, as well as at mitotic spindle poles. Immunofluorescence on human kidney biopsy samples; electron microscopy; cell culture immunofluorescence Human molecular genetics Medium 20172860
2011 Mutant uromodulin undergoes endoplasmic reticulum (ER) retention with retarded intracellular trafficking and reduced secretion into cell culture media; the severity of ER retention correlates with clinical phenotype severity (in-frame indel mutation shows less ER retention and milder clinical course than C150S mutation). In vitro functional characterization of mutant uromodulin isoforms: uromodulin staining of patient biopsy, cell culture secretion assays, ER retention analysis Clinical journal of the American Society of Nephrology : CJASN Medium 22034507
2011 Accumulation of mutant uromodulin in ER of renal tubular cells (thick ascending limb) is associated with ER stress, as evidenced by strong co-expression of the ER stress marker GRP78 (BiP) in a perinuclear pattern, providing a mechanism for disease progression. Immunohistochemistry for uromodulin and GRP78 in kidney biopsies of UMOD-mutation carriers vs. non-mutation controls American journal of kidney diseases : the official journal of the National Kidney Foundation Medium 21978600
2013 UMOD missense mutations (Val109Glu, Pro236Gln, Cys248Trp) cause mutant uromodulin to be retained in the endoplasmic reticulum rather than trafficked to the Golgi apparatus, and substantially reduce uromodulin secretion into cell culture supernatant compared to wild-type. Site-directed mutagenesis, transfection of HEK293 cells, western blot for protein expression, immunofluorescence for intracellular localization (ER vs. Golgi) Gene Medium 23988501
2013 Common noncoding UMOD promoter risk variants increase uromodulin expression; uromodulin overexpression activates the renal sodium cotransporter NKCC2, leading to salt-sensitive hypertension and age-dependent renal lesions in transgenic mice; pharmacological inhibition of NKCC2 (loop diuretics) is more effective in UMOD risk-variant homozygotes. Transgenic mouse overexpression model; in vitro promoter-expression assays; clinical pharmacological study with NKCC2 inhibitor stratified by genotype Nature medicine High 24185693
2017 ADTKD-UMOD mouse kidneys (Tg UmodC147W) show secondary mitochondrial dysfunction: decreased mitochondrial protein abundance, disturbed mitochondrial fission (reduced FIS1), impaired OXPHOS and citrate cycle, and activation of the LKB1-AMPK energy-deficit sensor pathway, all downstream of primary ER stress/UPR caused by mutant uromodulin retention. Quantitative LC-MS/MS proteomics of TAL-enriched outer renal medulla from ADTKD-UMOD vs. control mice; immunoblotting for UPR markers (BiP/HSPA5, phospho-eIF2α, ATF4, ATF6, CHOP) Scientific reports Medium 28220896
2017 In transgenic mice expressing mutant uromodulin (Tg UmodC147W), transcriptional profiling shows upregulation of inflammation and fibrosis and downregulation of lipid metabolism before any histological kidney damage, with pro-inflammatory signals preceding fibrosis onset and detectable in the first week after birth. Kidney transcriptional profiling (microarray/RNA-seq) of young Tg UmodC147W mice vs. controls at presymptomatic stage Scientific reports Medium 28785050
2017 Homozygous UMOD mutation (p.C120Y) produces a gene dosage effect: homozygote carriers show unprecedented low urinary uromodulin levels and aberrant uromodulin fragments compared to heterozygote carriers, demonstrating that each allele contributes quantitatively to uromodulin processing and excretion. Clinical comparison of heterozygote vs. homozygote mutation carriers from consanguineous family; urine uromodulin measurement and fragment analysis Nephrology, dialysis, transplantation Medium 28605509
2011 Mutant human uromodulin (C148W) shows altered intracellular localization (change in glycosylation pattern detected by deglycosylation experiment) in transgenic mouse kidneys; mutant uromodulin expression induces 5α-reductase 2 and downstream androgen-regulated gene expression (β-glucuronidase, ornithine decarboxylase, cytochrome P450 4a12a) in kidney. Transgenic mouse model expressing mutant human UMOD; deglycosylation experiments; microarray and quantitative RT-PCR Journal of pharmacological sciences Low 21358122
2022 UMOD missense variant p.Thr62Pro causes an intermediate trafficking defect in vitro and modest ER stress induction compared to canonical ADTKD mutations, with incomplete penetrance and intermediate reduction of urinary uromodulin levels, defining an intermediate-effect variant. Cell model trafficking assay; in silico simulation; patient urine uromodulin measurement; population database and biobank analysis Proceedings of the National Academy of Sciences of the United States of America Medium 35947615
2022 ER stress-induced CHOP (C/EBP homologous protein) upregulation in ADTKD-UMOD mediates epithelial-to-myofibroblast transformation (EMT) in renal tubular epithelial cells, with CHOP knockdown restoring vimentin and fibronectin upregulation caused by ER stress, suggesting a mechanism for renal interstitial fibrosis. Immunostaining of UMOD/GRP78/CHOP in patient kidney biopsies; in vitro ER stress induction by tunicamycin in renal tubular cells; CHOP knockdown; western blot for EMT markers (E-cadherin, vimentin, fibronectin) International journal of medical sciences Medium 35165522
2022 miR-103a-3p targets UMOD, and UMOD positively interacts with TRPV5; UMOD silencing reverses the protective effect of TRPV5 overexpression on oxalate-induced cell injury and calcium oxalate crystal adhesion; downregulating miR-103a-3p activates the UMOD/TRPV5 axis to mitigate calcium oxalate deposition in rat kidney. Co-immunoprecipitation (CoIP) and cell-surface biotinylation assays for UMOD-TRPV5 interaction; luciferase assay for miR-103a-3p targeting UMOD; TRPV5 overexpression and UMOD silencing in NRK-52E cells; rat ethylene glycol model with IHC and western blot Disease markers Medium 35251369
2026 Calorie restriction stimulates autophagy (via mTOR suppression and recovery of ER-phagy receptor genes) and promotes degradation of mutant uromodulin in thick ascending limb cells, reducing ER retention and ameliorating ER stress, inflammation, and fibrosis in ADTKD-UMOD transgenic mice. Transgenic Tg UmodC147W mice subjected to 30% calorie restriction; autophagy markers (P62, mTOR activation); ER-phagy receptor gene expression; mutant uromodulin ER retention by immunostaining; kidney function and fibrosis assessment Journal of the American Society of Nephrology : JASN Medium 41632531
2026 Lipocalin-2 (LCN2) is induced by intracellular uromodulin aggregates and ER stress in thick ascending limb cells; stimulation of autophagy with Torin1 reduces uromodulin aggregates and attenuates LCN2 induction; genetic deletion of Lcn2 decreases interstitial iron deposition but does not alter uromodulin accumulation, inflammation, or fibrosis, indicating LCN2 is a biomarker of toxic proteinopathy but not a driver of kidney damage. Umod knock-in mouse models (C171Y, R186S, C125R); immunoblotting, immunostaining, ELISA for LCN2; Torin1 autophagy stimulation in mIMCD3 cells; Lcn2-/- x UmodR186S/+ cross; kidney function, inflammation, fibrosis assessment Journal of the American Society of Nephrology : JASN Medium 41885939
2025 Urinary UMOD filaments naturally form salt-dependent sheet structures ('velcro sheets') that interact with uropathogenic E. coli (UPEC) type I pili; a lateral interface between UMOD polymers mediates sheet formation, and mutation of this interface disrupts UMOD filament bundle formation in mammalian cells; absence of N-terminal branches promotes stacking of UMOD sheets into thick 3D matrices. Cryo-electron tomography (cryo-ET) of urinary UMOD filaments with UPEC; single-particle cryo-electron microscopy (cryo-EM) for high-resolution structure of sheets; mutagenesis of lateral interface with functional assessment in mammalian cells; elastase treatment of UMOD bioRxivpreprint High
1993 The UMOD gene (encoding uromodulin/Tamm-Horsfall glycoprotein) was chromosomally assigned to 16p13.11, with expression confirmed in mature kidney and absent in Wilms tumors. cDNA cloning, DNA sequencing, somatic cell hybrid panel hybridization for chromosomal localization, RNA expression analysis Cytogenetics and cell genetics Medium 8382593
2024 IGFBP1 stabilizes Umod expression through m6A modification in bladder epithelial cells; overexpression of IGFBP1 or Umod inhibits cell apoptosis and blocks NF-κB and ERK signaling pathways, reducing pro-inflammatory cytokine production in a cystitis model. GEO transcriptome analysis; m6A modification assay; IGFBP1/Umod overexpression in primary cystitis cells; qRT-PCR, western blot; rat cystitis model with in vivo overexpression International immunopharmacology Low 38759370

Source papers

Stage 0 corpus · 84 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. Journal of medical genetics 361 12471200
2013 Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression. Nature medicine 295 24185693
2010 Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS genetics 284 21082022
2003 A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin. Journal of the American Society of Nephrology : JASN 168 14569098
2010 Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases. PLoS genetics 167 20686651
2009 Uromodulin levels associate with a common UMOD variant and risk for incident CKD. Journal of the American Society of Nephrology : JASN 144 19959715
2020 Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney international 99 32450155
2011 Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations. Clinical journal of the American Society of Nephrology : CJASN 86 21868615
2014 Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. Journal of the American Society of Nephrology : JASN 82 24578125
2018 Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. American journal of kidney diseases : the official journal of the National Kidney Foundation 51 29784615
2010 Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression. Human molecular genetics 47 20172860
2018 Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease. BMC nephrology 45 30376835
2017 Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD). Scientific reports 41 28220896
2012 UMOD as a susceptibility gene for end-stage renal disease. BMC medical genetics 38 22947327
2022 An intermediate-effect size variant in UMOD confers risk for chronic kidney disease. Proceedings of the National Academy of Sciences of the United States of America 37 35947615
2020 Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations. Kidney international reports 34 32954071
2017 Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations. Scientific reports 31 28785050
2011 Endoplasmic reticulum stress in UMOD-related kidney disease: a human pathologic study. American journal of kidney diseases : the official journal of the National Kidney Foundation 25 21978600
2012 Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing. PloS one 24 22693617
2022 UMOD and the architecture of kidney disease. Pflugers Archiv : European journal of physiology 23 35881244
2017 Elevated UMOD methylation level in peripheral blood is associated with gout risk. Scientific reports 21 28894234
2016 Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion. American journal of physiology. Renal physiology 20 27488999
2008 Immature renal structures associated with a novel UMOD sequence variant. American journal of kidney diseases : the official journal of the National Kidney Foundation 20 18950917
2017 A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 18 28605509
2013 Novel UMOD mutations in familial juvenile hyperuricemic nephropathy lead to abnormal uromodulin intracellular trafficking. Gene 18 23988501
2011 Characterization of a recurrent in-frame UMOD indel mutation causing late-onset autosomal dominant end-stage renal failure. Clinical journal of the American Society of Nephrology : CJASN 18 22034507
2005 A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy. BMC medical genetics 15 15673476
2021 Rationale and Design of the Genotype-Blinded Trial of Torasemide for the Treatment of Hypertension (BHF UMOD). American journal of hypertension 14 33084880
2012 Common variants of the UMOD promoter associated with blood pressure in a community-based Chinese cohort. Hypertension research : official journal of the Japanese Society of Hypertension 14 22592667
1993 Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11. Cytogenetics and cell genetics 14 8382593
2022 Phenome-Wide Association Study of UMOD Gene Variants and Differential Associations With Clinical Outcomes Across Populations in the Million Veteran Program a Multiethnic Biobank. Kidney international reports 13 35967117
2015 Functional analysis of UMOD gene and its effect on inflammatory cytokines in serum of essential hypertension patients. International journal of clinical and experimental pathology 13 26617860
2021 Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific? BMC nephrology 12 33397327
2016 A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease. Clinical biochemistry 12 27729211
2021 UMOD Polymorphisms Associated with Kidney Function, Serum Uromodulin and Risk of Mortality among Patients with Chronic Kidney Disease, Results from the C-STRIDE Study. Genes 11 34828293
2019 Urinary Uromodulin Levels and UMOD Variants in Black South Africans with Hypertension-Attributed Chronic Kidney Disease. International journal of nephrology 10 31065383
2008 Production and characterization of transgenic mice harboring mutant human UMOD gene. Nucleosides, nucleotides & nucleic acids 9 18600511
2022 Upregulation of C/EBP Homologous Protein induced by ER Stress Mediates Epithelial to Myofibroblast Transformation in ADTKD-UMOD. International journal of medical sciences 7 35165522
2022 miR-103a-3p Silencing Ameliorates Calcium Oxalate Deposition in Rat Kidney by Activating the UMOD/TRPV5 Axis. Disease markers 6 35251369
2019 UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review. BMC pediatrics 6 31068150
2013 Standardized, systemic phenotypic analysis of Umod(C93F) and Umod(A227T) mutant mice. PloS one 6 24205203
2022 A founder UMOD variant is a common cause of hereditary nephropathy in the British population. Journal of medical genetics 5 36038257
2016 A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease. BMC medical genetics 5 27938332
2013 A novel UMOD mutation (c.187T>C) in a Korean family with juvenile hyperuricemic nephropathy. Annals of laboratory medicine 5 23826568
2011 Enhancement of androgen action in the kidneys of transgenic mice harboring the mutant human UMOD gene. Journal of pharmacological sciences 5 21358122
2006 Familial nephropathy associated with hyperuricemia in Spain: our experience with 3 families harbouring a UMOD mutation. Nucleosides, nucleotides & nucleic acids 5 17065110
2022 A novel combination of OHVIRA syndrome and likely causal variant in UMOD gene. CEN case reports 4 36417174
2019 A novel UMOD gene mutation associated with chronic kidney failure at a young age. Clinical nephrology 4 29424336
2017 Development of next generation sequencing panel for UMOD and association with kidney disease. PloS one 4 28609449
2015 Single-nucleotide polymorphism of the UMOD promoter is associated with the outcome of chronic kidney disease patients. Biomedical reports 4 26171171
2022 UMOD and you! Explaining a rare disease diagnosis. Journal of rare diseases (Berlin, Germany) 3 36569465
2021 Effect of a common UMOD variant on kidney function, blood pressure, cognitive and physical function in a community-based cohort of older adults. Journal of human hypertension 3 34593962
2020 Non-diabetic end-stage renal disease in Saudis associated with polymorphism of MYH9 gene but not UMOD gene. Medicine 3 32011449
2020 SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant. Nefrologia 3 32113667
2016 First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. Journal of molecular and genetic medicine : an international journal of biomedical research 3 27489562
2015 A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction. Internal medicine (Tokyo, Japan) 3 25786455
2024 IGFBP1 stabilizes Umod expression through m6A modification to inhibit the occurrence and development of cystitis by blocking NF-κB and ERK signaling pathways. International immunopharmacology 2 38759370
2023 SPP1 and UMOD gene variants are synergistically associated with risk of renal stone disease. Gene 2 36804854
2023 Knowledge mapping of UMOD of English published work from 1985 to 2022: a bibliometric analysis. International urology and nephrology 2 37322316
2022 ADTKD-UMOD in a girl with a de novo mutation: A case report. Frontiers in medicine 2 36606057
2019 Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review. Nephron 2 31422399
2025 Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review. Orphanet journal of rare diseases 1 40770350
2024 Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report. CEN case reports 1 39012617
2024 Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene. Nefrologia 1 39216982
2022 UMOD Mutations in Chronic Kidney Disease in Taiwan. Biomedicines 1 36140366
2021 ASSOCIATION OF GENETIC POLYMORPHISM AND EXPRESSION OF UMOD GENE AND CHRONIC KIDNEY DISEASE. Wiadomosci lekarskie (Warsaw, Poland : 1960) 1 34824175
2018 Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 1 29513881
2018 UMOD: A Device for Monitoring Postoperative Urination. Studies in health technology and informatics 1 29968603
2016 Role of UMOD Promoter Polymorphism in the Etiology of Preeclampsia. Genetic testing and molecular biomarkers 1 27315129
2026 Calorie Restriction Leads to Degradation of Mutant Uromodulin and Ameliorates Inflammation and Fibrosis in UMOD -Related Kidney Disease. Journal of the American Society of Nephrology : JASN 0 41632531
2026 Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant. CEN case reports 0 41642419
2026 A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin. Kidney medicine 0 41798828
2026 Lipocalin-2 Is Induced by Uromodulin Aggregates without Impacting Kidney Disease Progression in Autosomal Dominant Tubulointerstitial Kidney Disease-UMOD. Journal of the American Society of Nephrology : JASN 0 41885939
2026 A novel and two recurrent UMOD mutations in autosomal dominant tubulointerstitial kidney disease (ADTKD): a case series and literature review. Renal failure 0 41958050
2025 Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications. Nefrologia 0 40300987
2025 Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation. Internal medicine (Tokyo, Japan) 0 40533238
2025 Genetic analysis of UMOD gene mutation in autosomal dominant tubulointerstitial kidney disease. Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 0 40785686
2025 [Analysis of expression of MGP, UMOD, SPP1, F2, FN1, HAVCR1 genes associated with the development of urolithiasis]. Urologiia (Moscow, Russia : 1999) 0 40937777
2025 The diagnostic value of uromodulin protein measurement in autosomal dominant tubulointerstitial kidney disease due to uromodulin mutation (ADTKD-UMOD): serum or urine? BMC nephrology 0 41462127
2025 Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease. Frontiers in genetics 0 41480152
2023 A Novel Mutation of UMOD in a Chinese Family with IgA Nephropathy: A Case Report. Case reports in nephrology and dialysis 0 37900933
2023 Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene. Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia 0 38010247
2020 A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report. BMC nephrology 0 32847529
2011 Detection of mutant uromodulin in transgenic mouse harboring a mutant human UMOD gene. Nucleosides, nucleotides & nucleic acids 0 22132988