Autosomal dominant tubulointerstitial kidney disease

Treating Disease at the RNA Level with Oligonucleotides

(2019) Arthur A. Levin   NEW ENGLAND JOURNAL OF MEDICINE

Prenatal Detection of Isolated Bilateral Hyperechogenic Kidneys: Etiologies and Outcomes

(2019) Shirley Shuster et al.   PRENATAL DIAGNOSIS

Monogenic causes of chronic kidney disease in adults

(2019) Dervla M. Connaughton et al.   KIDNEY INTERNATIONAL

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

(2019) Moran Dvela-Levitt et al.   CELL

Learning Physiology From Inherited Kidney Disorders

(2019) Jenny van der Wijst et al.   PHYSIOLOGICAL REVIEWS

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation

(2018) Samuel Mon-Wei Yu et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD- UMOD and ADTKD- MUC1

(2018) Nadia Ayasreh et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

CRISPR Gene Editing in the Kidney

(2018) Nelly M. Cruz et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Mechanisms of Renal Fibrosis

(2018) Benjamin D. Humphreys   Annual Review of Physiology

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

(2018) Desirée Schubert et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

17q12 Deletion Syndrome as a rare cause for diabetes mellitus type MODY

(2018) Natascha Roehlen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Noninvasive Immunohistochemical Diagnosis and NovelMUC1Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

(2018) Martina Živná et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

NPHP1(Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

(2018) Rozemarijn Snoek et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC

(2018) Natsuko Tokonami et al.   KIDNEY INTERNATIONAL

Effects of uric acid-lowering therapy on the progression of chronic kidney disease: a systematic review and meta-analysis

(2018) Xuemei Liu et al.   RENAL FAILURE

Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations

(2018) Andrea Wenzel et al.   Scientific Reports

Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease

(2018) Siu Chiu Chan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition

(2018) Karl X. Knaup et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

APOL1-Associated Nephropathy: A Key Contributor to Racial Disparities in CKD

(2018) Barry I. Freedman et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

The excretion of uromodulin is modulated by the calcium-sensing receptor

(2018) Natsuko Tokonami et al.   KIDNEY INTERNATIONAL

Diagnostic Utility of Exome Sequencing for Kidney Disease

(2018) Emily E. Groopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency

(2018) Navneet Matharu et al.   SCIENCE

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

(2018) Christine Gast et al.   BMC Nephrology

Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis

(2017) Bryce G. Johnson et al.   JOURNAL OF CLINICAL INVESTIGATION

Hepatocyte Nuclear Factor-1βControls Mitochondrial Respiration in Renal Tubular Cells

(2017) Audrey Casemayou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Hepatocyte Nuclear Factor–1βRegulates Urinary Concentration and Response to Hypertonicity

(2017) Karam Aboudehen et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease

(2017) Andreas Kompatscher et al.   KIDNEY INTERNATIONAL

Uromodulin: from physiology to rare and complex kidney disorders

(2017) Olivier Devuyst et al.   Nature Reviews Nephrology

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein

(2017) Satoko Yamamoto et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion

(2017) Noel Edwards et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Serum uromodulin—a marker of kidney function and renal parenchymal integrity

(2017) Jürgen E Scherberich et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

(2017) Rhian L. Clissold et al.   BMC Nephrology

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

(2017) Thomas M. Connor et al.   PLoS Genetics

An Update on Sec61 Channel Functions, Mechanisms, and Related Diseases

(2017) Sven Lang et al.   Frontiers in Physiology

Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

(2017) Céline Schaeffer et al.   PLoS One

Point mutation in D8C domain of Tamm-Horsfall protein/uromodulin in transgenic mice causes progressive renal damage and hyperuricemia

(2017) Lijie Ma et al.   PLoS One

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

(2017) Elisabeth Kemter et al.   Scientific Reports

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

(2017) Matteo Trudu 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

Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease

(2016) Claudio Musetti et al.   JOURNAL OF NEPHROLOGY

Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients

(2016) M. Nie et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

(2016) Rhian L. Clissold et al.   KIDNEY INTERNATIONAL

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

(2016) Dominik Steubl et al.   MEDICINE

Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

(2016) Leire Gondra et al.   PEDIATRIC NEPHROLOGY

New-onset diabetes after renal transplantation in a patient with a novelHNF1Bmutation

(2016) Shoichiro Kanda et al.   PEDIATRIC TRANSPLANTATION

Fetal anomalies associated withHNF1Bmutations: report of 20 autopsy cases

(2016) Hélène Duval et al.   PRENATAL DIAGNOSIS

Ciliopathies

(2016) Daniela A. Braun et al.   Cold Spring Harbor Perspectives in Biology

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

Identification of an NPHP1 deletion causing adult form of nephronophthisis

(2015) A. Haghighi et al.   IRISH JOURNAL OF MEDICAL SCIENCE

Uromodulin, kidney function, cardiovascular disease, and mortality

(2015) Olivier Devuyst 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

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

(2015) Martina Brunati et al.   eLife

Protein transport into the human ER and related diseases, Sec61-channelopathies

(2014) Sarah Haßdenteufel et al.   Biochemistry and Cell Biology

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

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

Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

(2014) A. J. Bleyer et al.   Clinical Journal of the American Society of Nephrology

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

(2014) Marco Quaglia et al.   CLINICAL TRANSPLANTATION

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

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

Autosomal dominant tubulointerstitial kidney disease: of names and genes

(2014) Anthony J. Bleyer et al.   KIDNEY INTERNATIONAL

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

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum

(2014) Rhian L. Clissold et al.   Nature Reviews Nephrology

Paradoxical response to furosemide in uromodulin-associated kidney disease

(2014) L. Labriola et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

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

Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone

(2013) A.J. Bleyer et al.   CLINICAL NEPHROLOGY

Preimplantation genetic diagnosis

(2013) Stephen C. Collins   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Hepatocyte nuclear factor 1  controls nephron tubular development

(2013) F. Massa et al.   DEVELOPMENT

Technical report: ethical and policy issues in genetic testing and screening of children

(2013) Laine Friedman Ross et al.   GENETICS IN MEDICINE

Summary of KDIGO 2012 CKD Guideline: behind the scenes, need for guidance, and a framework for moving forward

(2013) Adeera Levin et al.   KIDNEY INTERNATIONAL

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

Novel views on new-onset diabetes after transplantation: development, prevention and treatment

(2013) M. Hecking et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Standardized, Systemic Phenotypic Analysis of UmodC93F and UmodA227T Mutant Mice

(2013) Elisabeth Kemter et al.   PLoS One

A systematic review and meta-analysis on the safety and efficacy of febuxostat versus allopurinol in chronic gout

(2013) Labib I. Faruque et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

HNF1Bdeletions in patients with young-onset diabetes but no known renal disease

(2012) E. L. Edghill et al.   DIABETIC MEDICINE

Childhood onset diabetes posttransplant in a girl with TCF2 mutation

(2012) Elena Tudorache et al.   PEDIATRIC DIABETES

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

Endoplasmic Reticulum Stress in UMOD-Related Kidney Disease: A Human Pathologic Study

(2011) Julien Adam 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

Quality of life in patients with chronic kidney disease

(2011) Maria Carolina Cruz et al.   Clinics

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

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

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

(2011) C. Bergmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

(2011) Stanislas Faguer et al.   KIDNEY INTERNATIONAL

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations

(2010) Richard A. Oram et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase

(2010) Silvia Ferrè et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases

(2010) L. Heidet et al.   Clinical Journal of the American Society of Nephrology

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

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

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

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

Symptom Burden, Depression, and Quality of Life in Chronic and End-Stage Kidney Disease

(2009) K. Abdel-Kader et al.   Clinical Journal of the American Society of 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

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

(2009) S. Adalat et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A mitotic transcriptional switch in polycystic kidney disease

(2009) Francisco Verdeguer et al.   NATURE MEDICINE

Uricosuric Action of Losartan via the Inhibition of Urate Transporter 1 (URAT 1) in Hypertensive Patients

(2008) T. Hamada et al.   AMERICAN JOURNAL OF HYPERTENSION

Uromodulin storage disease

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