Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

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

(2017) Elisabeth Kemter et al.   Scientific Reports

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

KEGG: new perspectives on genomes, pathways, diseases and drugs

(2016) Minoru Kanehisa et al.   NUCLEIC ACIDS RESEARCH

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

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

Orchestrating high-throughput genomic analysis with Bioconductor

(2015) Wolfgang Huber et al.   NATURE METHODS

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

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

(2015) Martina Brunati et al.   eLife

Pex11a Deficiency Is Associated With a Reduced Abundance of Functional Peroxisomes and Aggravated Renal Interstitial Lesions

(2014) Huachun Weng et al.   HYPERTENSION

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

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

Exosomal ATF3 RNA Attenuates Pro-Inflammatory Gene MCP-1 Transcription in Renal Ischemia-Reperfusion

(2014) Hsi-Hsien Chen et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

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

A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen α3α4α5(IV) trimers

(2014) Ron Korstanje et al.   KIDNEY INTERNATIONAL

Defective fatty acid oxidation in renal tubular epithelial cells has a key role in kidney fibrosis development

(2014) Hyun Mi Kang et al.   NATURE MEDICINE

Inflammatory processes in renal fibrosis

(2014) Xiao-Ming Meng et al.   Nature Reviews Nephrology

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

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

Metabolomics Reveals Signature of Mitochondrial Dysfunction in Diabetic Kidney Disease

(2013) K. Sharma et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

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

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

clusterProfiler: an R Package for Comparing Biological Themes Among Gene Clusters

(2012) Guangchuang Yu et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

A Comparative Transcriptome Analysis Identifying FGF23 Regulated Genes in the Kidney of a Mouse CKD Model

(2012) Bing Dai et al.   PLoS One

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

Chemokines in Renal Injury

(2011) A. C. K. Chung et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

The Ngal reporter mouse detects the response of the kidney to injury in real time

(2011) Neal Paragas et al.   NATURE MEDICINE

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

Lipocalin 2 is essential for chronic kidney disease progression in mice and humans

(2010) Amandine Viau et al.   JOURNAL OF CLINICAL INVESTIGATION

ATF3-Mediated Epigenetic Regulation Protects against Acute Kidney Injury

(2010) H. F. Li et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

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

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

(2009) Anna Köttgen et al.   NATURE GENETICS

ATF3 Protects against Renal Ischemia-Reperfusion Injury

(2008) T. Yoshida et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

From endoplasmic-reticulum stress to the inflammatory response

(2008) Kezhong Zhang et al.   NATURE

Uromodulin storage disease

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