Association of Estimated Glomerular Filtration Rate and Urinary Uromodulin Concentrations with Rare Variants Identified by UMOD Gene Region Sequencing

A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2with serum creatinine level

(2012) Cristian Pattaro et al.   BMC Medical Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

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

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

(2011) Luca Rampoldi et al.   KIDNEY INTERNATIONAL

Lower estimated GFR and higher albuminuria are associated with adverse kidney outcomes. A collaborative meta-analysis of general and high-risk population cohorts

(2011) Ron T. Gansevoort et al.   KIDNEY INTERNATIONAL

Lower estimated glomerular filtration rate and higher albuminuria are associated with mortality and end-stage renal disease. A collaborative meta-analysis of kidney disease population cohorts

(2011) Brad C. Astor et al.   KIDNEY INTERNATIONAL

Lower estimated glomerular filtration rate and higher albuminuria are associated with all-cause and cardiovascular mortality. A collaborative meta-analysis of high-risk population cohorts

(2011) Marije van der Velde et al.   KIDNEY INTERNATIONAL

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction

(2011) Jessica Shea et al.   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Uromodulin concentrations are not associated with incident CKD among persons with coronary artery disease

(2011) Michael G Shlipak et al.   BMC Nephrology

Association of estimated glomerular filtration rate and albuminuria with all-cause and cardiovascular mortality in general population cohorts: a collaborative meta-analysis

(2010)   LANCET

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

New loci associated with kidney function and chronic kidney disease

(2010) Anna Köttgen et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

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

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

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

(2009) Anna Köttgen et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS Genetics

Prevalence of chronic kidney disease in population-based studies: Systematic review

(2008) Qiu-Li Zhang et al.   BMC PUBLIC HEALTH

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