Uromodulin: old friend with new roles in health and disease

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

Novel Uromodulin Mutation in Familial Juvenile Hyperuricemic Nephropathy

(2012) Xin Wei et al.   AMERICAN JOURNAL OF NEPHROLOGY

UMOD as a susceptibility gene for end-stage renal disease

(2012) Anna Reznichenko et al.   BMC Medical Genetics

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

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

(2012) Céline Schaeffer et al.   KIDNEY INTERNATIONAL

Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD

(2011) Bodo B. Beck et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

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

Molecular and Cellular Effects of Tamm-Horsfall Protein Mutations and Their Rescue by Chemical Chaperones

(2011) Lijie Ma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

(2011) Luca Rampoldi et al.   KIDNEY INTERNATIONAL

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression

(2010) Frank Zaucke 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

A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea

(2010) Dong Hun Lee et al.   JOURNAL OF KOREAN MEDICAL SCIENCE

Uromodulin and Chronic Kidney Disease

(2010) Karl Lhotta   KIDNEY & BLOOD PRESSURE RESEARCH

Uromodulin Biology and Pathophysiology – An Update

(2010) Petr Vyletal et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Evidence for a role of uromodulin in chronic kidney disease progression

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

Childhood course of renal insufficiency in a family with a uromodulin gene mutation

(2010) Péter Schäffer et al.   PEDIATRIC NEPHROLOGY

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

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

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