Uromodulin: from physiology to rare and complex kidney disorders

Serum Uromodulin and Mortality Risk in Patients Undergoing Coronary Angiography

(2017) Graciela E. Delgado et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD (ADTKD-UMOD)

(2017) Elisabeth Kemter et al.   Scientific Reports

Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity

(2016) Anubha Mahajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

(2016) Nikhita Ajit Bolar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Serum uromodulin predicts graft failure in renal transplant recipients

(2016) Dominik Steubl et al.   BIOMARKERS

Acute Kidney Injury Urine Biomarkers in Very Low-Birth-Weight Infants

(2016) D. J. Askenazi et al.   Clinical Journal of the American Society of Nephrology

Association of Preoperative Urinary Uromodulin with AKI after Cardiac Surgery

(2016) Pranav S. Garimella et al.   Clinical Journal of the American Society of Nephrology

Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans

(2016) Meijian Guan et al.   HUMAN GENETICS

The Uromodulin Gene Locus Shows Evidence of Pathogen Adaptation through Human Evolution

(2016) S. Ghirotto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Plasma Uromodulin Correlates With Kidney Function and Identifies Early Stages in Chronic Kidney Disease Patients

(2016) Dominik Steubl et al.   MEDICINE

Insights into kidney diseases from genome-wide association studies

(2016) Matthias Wuttke et al.   Nature Reviews Nephrology

Idiopathic hypercalciuria and formation of calcium renal stones

(2016) Fredric L. Coe et al.   Nature Reviews Nephrology

Longitudinal patterns of urine biomarkers in infants across gestational ages

(2016) Marissa J. DeFreitas et al.   PEDIATRIC NEPHROLOGY

A structured interdomain linker directs self-polymerization of human uromodulin

(2016) Marcel Bokhove et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Development and characterization of a pseudo multiple reaction monitoring method for the quantification of human uromodulin in urine

(2016) Thomas G Hammond et al.   Bioanalysis

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

(2016) Cristian Pattaro et al.   Nature Communications

Clinical, Genetic, and Urinary Factors Associated with Uromodulin Excretion

(2015) S. Troyanov et al.   Clinical Journal of the American Society of Nephrology

Associations of Urinary Uromodulin with Clinical Characteristics and Markers of Tubular Function in the General Population

(2015) M. Pruijm et al.   Clinical Journal of the American Society of Nephrology

Tamm-Horsfall Protein Regulates Granulopoiesis and Systemic Neutrophil Homeostasis

(2015) R. Micanovic et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Deep Sequencing in Microdissected Renal Tubules Identifies Nephron Segment-Specific Transcriptomes

(2015) J. W. Lee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Uromodulin, kidney function, cardiovascular disease, and mortality

(2015) Olivier Devuyst et al.   KIDNEY INTERNATIONAL

Urinary uromodulin, kidney function, and cardiovascular disease in elderly adults

(2015) Pranav S. Garimella et al.   KIDNEY INTERNATIONAL

Genome-wide association study of kidney function decline in individuals of European descent

(2015) Mathias Gorski et al.   KIDNEY INTERNATIONAL

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

(2015) Kai-Uwe Eckardt et al.   KIDNEY INTERNATIONAL

Early markers of Fabry disease revealed by proteomics

(2015) V. Matafora et al.   Molecular BioSystems

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

(2015) Martina Brunati et al.   eLife

Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat

(2014) Sulistiyati Bayu Utami et al.   Clinical and Experimental Nephrology

Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy

(2014) Marco Quaglia et al.   CLINICAL TRANSPLANTATION

Rare mutations associating with serum creatinine and chronic kidney disease

(2014) Gardar Sveinbjornsson et al.   HUMAN MOLECULAR GENETICS

No Amelioration of Uromodulin Maturation and Trafficking Defect by Sodium 4-Phenylbutyratein Vivo

(2014) Elisabeth Kemter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Common Variants in UMOD Associate with Urinary Uromodulin Levels: A Meta-Analysis

(2014) M. Olden et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Functional Genomic Annotation of Genetic Risk Loci Highlights Inflammation and Epithelial Biology Networks in CKD

(2014) N. Ledo et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

An Intricate Network of Conserved DNA Upstream Motifs and Associated Transcription Factors Regulate the Expression of Uromodulin Gene

(2014) Rajneesh Srivastava et al.   JOURNAL OF UROLOGY

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

(2014) Arif B. Ekici et al.   KIDNEY INTERNATIONAL

The UCSC Genome Browser database: 2015 update

(2014) Kate R. Rosenbloom et al.   NUCLEIC ACIDS RESEARCH

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

(2013) J. L. Moskowitz et al.   Clinical Journal of the American Society of Nephrology

Investigation of known estimated glomerular filtration rate loci in patients with Type 2 diabetes

(2013) H. A. Deshmukh et al.   DIABETIC MEDICINE

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice

(2013) Elisabeth Kemter et al.   HUMAN MOLECULAR GENETICS

Validation of Uromodulin as a Candidate Gene for Human Essential Hypertension

(2013) Lesley A. Graham et al.   HYPERTENSION

Uromodulin upregulates TRPV5 by impairing caveolin-mediated endocytosis

(2013) Matthias T.F. Wolf et al.   KIDNEY INTERNATIONAL

Common genetic variants of the human uromodulin gene regulate transcription and predict plasma uric acid levels

(2013) Jia Han et al.   KIDNEY INTERNATIONAL

Evolving importance of kidney disease: from subspecialty to global health burden

(2013) Kai-Uwe Eckardt et al.   LANCET

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

(2013) Matteo Trudu et al.   NATURE MEDICINE

Biomarkers for incident CKD: a new framework for interpreting the literature

(2013) Michael G. Shlipak et al.   Nature Reviews Nephrology

Determination of uromodulin in human urine: influence of storage and processing

(2013) Sonia Youhanna et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing

(2013) Bob Glaudemans et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Standardized, Systemic Phenotypic Analysis of UmodC93F and UmodA227T Mutant Mice

(2013) Elisabeth Kemter et al.   PLoS One

Tamm-Horsfall Protein Regulates Circulating and Renal Cytokines by Affecting Glomerular Filtration Rate and Acting as a Urinary Cytokine Trap

(2012) Yan Liu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanism and prevention of acute kidney injury from cast nephropathy in a rodent model

(2012) Wei-Zhong Ying et al.   JOURNAL OF CLINICAL INVESTIGATION

Uromodulin Triggers IL-1 -Dependent Innate Immunity via the NLRP3 Inflammasome

(2012) M. N. Darisipudi et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Meta-analysis identifies multiple loci associated with kidney function–related traits in east Asian populations

(2012) Yukinori Okada et al.   NATURE GENETICS

Genome-Wide Association and Functional Follow-Up Reveals New Loci for Kidney Function

(2012) Cristian Pattaro et al.   PLoS Genetics

Pathophysiology-Based Treatment of Idiopathic Calcium Kidney Stones

(2011) F. L. Coe et al.   Clinical Journal of the American Society of Nephrology

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

(2011) G. Bollee et al.   Clinical Journal of the American Society of Nephrology

Activation of the Bumetanide-sensitive Na+,K+,2Cl−Cotransporter (NKCC2) Is Facilitated by Tamm-Horsfall Protein in a Chloride-sensitive Manner

(2011) Kerim Mutig et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Uromodulin gene variant is associated with type 2 diabetic nephropathy

(2011) Tarunveer S. Ahluwalia et al.   JOURNAL OF HYPERTENSION

The rediscovery of uromodulin (Tamm–Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease

(2011) Luca Rampoldi et al.   KIDNEY INTERNATIONAL

The pathogenesis and diagnosis of acute kidney injury in multiple myeloma

(2011) Colin A. Hutchison et al.   Nature Reviews Nephrology

Genetic Association for Renal Traits among Participants of African Ancestry Reveals New Loci for Renal Function

(2011) Ching-Ti Liu et al.   PLoS Genetics

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD

(2011) Carsten A. Böger et al.   PLoS Genetics

Uromodulin Facilitates Neutrophil Migration Across Renal Epithelial Monolayers

(2010) Marianne Schmid et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21

(2010) Sian E. Piret et al.   HUMAN GENETICS

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure

(2010) Ilenia Bernascone et al.   HUMAN MOLECULAR GENETICS

Tamm-Horsfall Glycoprotein Interacts with Renal Outer Medullary Potassium Channel ROMK2 and Regulates Its Function

(2010) Aparna Renigunta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

New loci associated with kidney function and chronic kidney disease

(2010) Anna Köttgen et al.   NATURE GENETICS

Genetic loci influencing kidney function and chronic kidney disease

(2010) John C Chambers et al.   NATURE GENETICS

Evidence for a role of uromodulin in chronic kidney disease progression

(2010) S. Prajczer et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Atlas of gene expression in the mouse kidney: new features of glomerular parietal cells

(2010) Lydie Cheval et al.   PHYSIOLOGICAL GENOMICS

Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans

(2010) G. Genovese et al.   SCIENCE

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

(2010) Daniel F. Gudbjartsson et al.   PLoS Genetics

Genome-Wide Association Study of Blood Pressure Extremes Identifies Variant near UMOD Associated with Hypertension

(2010) Sandosh Padmanabhan et al.   PLoS Genetics

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

(2009) Martina Živná et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

(2009) Siân E. Williams et al.   HUMAN MOLECULAR GENETICS

Uromodulin Levels Associate with a Common UMOD Variant and Risk for Incident CKD

(2009) A. Kottgen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Tamm-Horsfall Protein Protects Against Urinary Tract Infection by Proteus Mirabilis

(2009) Hajamohideen S. Raffi et al.   JOURNAL OF UROLOGY

Identification of a unique urinary biomarker profile in patients with autosomal dominant polycystic kidney disease

(2009) Andreas D. Kistler et al.   KIDNEY INTERNATIONAL

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Multiple loci associated with indices of renal function and chronic kidney disease

(2009) Anna Köttgen et al.   NATURE GENETICS

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage

(2008) Sara Santambrogio et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Atlas of Gene Expression in the Developing Kidney at Microanatomic Resolution

(2008) Eric W. Brunskill et al.   DEVELOPMENTAL CELL

Analysis of Uromodulin Polymerization Provides New Insights into the Mechanisms Regulating ZP Domain-mediated Protein Assembly

(2008) Céline Schaeffer et al.   MOLECULAR BIOLOGY OF THE CELL

Salt wasting and blood pressure

(2008) Olivier Devuyst   NATURE GENETICS

Uromodulin storage disease

(2007) S.H. Nasr et al.   KIDNEY INTERNATIONAL