MANF Clears Mutant Uromodulin in Human Kidney Organoids of Autosomal Dominant Tubulointerstitial Kidney Disease.

De novo SEC61A1 mutation in congenital anemia and early-onset kidney disease: Case report and review of the literature.

A Partial UMOD Deletion Results in Altered Uromodulin Synthesis and Autosomal-Dominant Tubulointerstitial Kidney Disease-Uromodulin.

Plasma Metabolites Associated with CKD Stage in Autosomal Dominant Tubulointerstitial Kidney Disease.

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

Hyperuricemia and elevated creatinine in a child with anemia.

Calorie Restriction Leads to Degradation of Mutant Uromodulin and Ameliorates Inflammation and Fibrosis in UMOD -Related Kidney Disease.

JAG1 of all trades, master of CKD? The role of JAG1 in autosomal dominant tubulointerstitial kidney disease.

Mutations in UMOD Contribute to the Pathogenesis of ADTKD-UMOD by Influencing the Function of Complement Factor H.

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease.

The diagnostic value of uromodulin protein measurement in autosomal dominant tubulointerstitial kidney disease due to uromodulin mutation (ADTKD-UMOD): serum or urine?

Emerging Mechanistic Roles of STING Signaling in Kidney Diseases.

Renaming Medullary Cystic Kidney Disease: A Review of Semantic Nomenclature.

Targeted sequencing and iterative assembly of near-complete genomes.

An unusual presentation of UMOD-associated autosomal dominant tubulointerstitial kidney disease in a pediatric patient.

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) in Chinese Patients.

Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1).

An Observational Study of SGLT2 Inhibitors and Their Use in Autosomal Dominant Tubulointerstitial Kidney Disease.

Long-Read Sequencing of the MUC1 VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.

Genetic analysis of UMOD gene mutation in autosomal dominant tubulointerstitial kidney disease.

Autosomal dominant tubulointerstitial kidney disease-UMOD: a short review.

Quantifying clinical and genetic factors influencing rate and severity of autosomal dominant tubulointerstitial kidney disease progression.

Initial Suspicion of Autosomal Dominant Polycystic Kidney Disease Resulted in a Diagnosis of Autosomal Dominant Tubulointerstitial Kidney Disease Caused by a UMOD Mutation.

Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.

Characterization of recurrent UMOD variants (p.C255Y y p.Q316P) in a Galician cohort: genotype-phenotype correlation and clinical implications.

Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease.

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease.

Proteomic analysis of urinary extracellular vesicles from patients with ADTKD-HNF1β identifies roles for cilia-related proteins and serpins.

Endoplasmic reticulum stress as a driver and therapeutic target for kidney disease.

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohort.

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

A Novel Heterozygous and Pathogenic Variant of the HNF1B Gene Associated with Autosomal Dominant Tubulointerstitial Kidney Disease with a Broad Spectrum of Extrarenal Phenotypes.

Genetic Assessment of Living Kidney Transplant Donors: A Survey of Canadian Practices.

MUC1-associated autosomal dominant tubulointerstitial kidney disease: prevalence in kidney failure of undetermined aetiology and clinical insights from Danish families.

Case Report: A potentially pathogenic new variant of the REN gene found in a family experiencing autosomal dominant tubulointerstitial kidney disease.

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.

Disrupted uromodulin trafficking is rescued by targeting TMED cargo receptors.

Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene.

A Rare Case of Atypical Hemolytic Uremic Syndrome Presenting as Chronic Interstitial Nephritis.

Advances in uromodulin biology and potential clinical applications.

Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Autosomal-dominant tubulointerstitial kidney disease with a novel UMOD mutation, overlapping with Sjogren's syndrome: a case report.

Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.

Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.

Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.

From Rare Disorders of Kidney Tubules to Acute Renal Injury: Progress and Prospective.

Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection.

Case-inspired exploration of renin mutations in autosomal dominant tubulointerstitial kidney disease: not all paths lead to the endoplasmic reticulum.

The Pathophysiology of Inherited Renal Cystic Diseases.

Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis.

Autosomic Dominant Tubulo Interstitial Kidney Disease: Case Report of a New Variant of the UMOD Gene.

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.

Atypical ADPKD Due to a DNAJB11 Pathogenic Variant: An Educational Case Report.

MANF stimulates autophagy and restores mitochondrial homeostasis to treat autosomal dominant tubulointerstitial kidney disease in mice.

Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease.

UMOD-related autosomal dominant tubulointerstitial kidney disease: an unfavourable novel mutation.

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.

Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice.

Hypoxia controls expression of kidney-pathogenic MUC1 variants.

Leader peptide or pro-segment mutants of renin are misrouted to mitochondria in autosomal dominant tubulointerstitial kidney disease.

Genomics in the kidney clinic.

Cystic Diseases of the Kidneys: From Bench to Bedside.

Corrigendum to "Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease"Kidney International Reports, Volume 7, Issue 4, April 2022, Pages 857-866.

Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family.

MANF stimulates autophagy and restores mitochondrial homeostasis to treat toxic proteinopathy.

Influence of glycoprotein MUC1 on trafficking of the Ca2+-selective ion channels, TRPV5 and TRPV6, and on in vivo calcium homeostasis.

Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management.

ADTKD-UMOD in a girl with a de novo mutation: A case report.

UMOD and you! Explaining a rare disease diagnosis.

Transcription factor HNF1β controls a transcriptional network regulating kidney cell structure and tight junction integrity.

Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.

Altered Serum Uric Acid Levels in Kidney Disorders.

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD).

Hypertensive Emergency In UMOD-Related Autosomal Dominant Tubulointerstitial Kidney Disease.

UMOD Mutations in Chronic Kidney Disease in Taiwan.

Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

Kidney Histology Findings in a Patient with Autosomal Dominant Tubulointerstitial Kidney Disease Subtype Hepatocyte Nuclear Factor 1β.

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.

Detecting MUC1 Variants in Patients Clinicopathologically Diagnosed With Having Autosomal Dominant Tubulointerstitial Kidney Disease.

Alport syndrome and autosomal dominant tubulointerstitial kidney disease frequently underlie end-stage renal disease of unknown origin-a single-center analysis.

Upregulation of C/EBP Homologous Protein induced by ER Stress Mediates Epithelial to Myofibroblast Transformation in ADTKD-UMOD.

Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.

Autosomal dominant tubulointerstitial kidney disease with a novel heterozygous missense mutation in the uromodulin gene: A case report.

What is the cause of kidney dysfunction in a newborn with trisomy 21? Answers.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.

Family History is Important to Identify Patients with Monogenic Causes of Adult-Onset Chronic Kidney Disease.

The causes and consequences of paediatric kidney disease on adult nephrology care.

Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.

Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.

Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy.

Familial juvenile hyperuricemia in early childhood in a boy with a novel gene mutation.

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.

Uromodulin: Roles in Health and Disease.

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies.

The Varied Clinical Presentation of Autosomal Dominant Tubulointerstitial Kidney Disease Due to HNF1β Mutations.

Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease.

Clinical and genetic spectra of kidney disease caused by REN mutations.

Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia.

A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome.

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

A novel likely pathogenic variant in the UMOD gene in a family with autosomal dominant tubulointerstitial kidney disease: a case report.

[Patients with a kidney disease can benefit from a specific genetic diagnose].

Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing.

A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.

An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.

SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family.

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1.

Hypomagnesemia is underestimated in children with HNF1B mutations.

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.

Autosomal Dominant Tubulointerstitial Kidney Disease-Uromodulin Misclassified as Focal Segmental Glomerulosclerosis or Hereditary Glomerular Disease.

Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease.

Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease.

Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia.

Quality of life in patients with autosomal dominant tubulointerstitial kidney disease
.

A novel disease-causing mutation in the Renin gene in a Tunisian family with autosomal dominant tubulointerstitial kidney disease.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Autosomal dominant tubulointerstitial kidney disease.

Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutation: A Two-Case Report and Literature Review.

Autosomal Dominant Tubulointerstitial Kidney Disease with Adult Onset due to a Novel Renin Mutation Mapping in the Mature Protein.

Discovery of a Novel Mutation in the REN Gene in Patient With Chronic Progressive Kidney Disease of Unknown Etiology Presenting With Acute Spontaneous Carotid Artery Dissection.

Outcomes of patient self-referral for the diagnosis of several rare inherited kidney diseases.

Diagnosis and Long-term Management of Uromodulin Kidney Disease.

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.

Uromodulin-related autosomal-dominant tubulointerstitial kidney disease-pathogenetic insights based on a case.

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

Mucin-1 Gene Mutation and the Kidney: The Link between Autosomal Dominant Tubulointerstitial Kidney Disease and Focal and Segmental Glomerulosclerosis.

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

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

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

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

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

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Transcription factor HNF1β regulates expression of the calcium-sensing receptor in the thick ascending limb of the kidney.

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

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease.

Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.

A novel UMOD gene mutation associated with chronic kidney failure at a young age.

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.

Elevated urinary CRELD2 is associated with endoplasmic reticulum stress-mediated kidney disease.

The UMOD Locus: Insights into the Pathogenesis and Prognosis of Kidney Disease.

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

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

Uromodulin: from physiology to rare and complex kidney disorders.

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

A review on autosomal dominant tubulointerstitial kidney disease.

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

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

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

A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress.

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

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

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

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

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

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

From juvenile hyperuricaemia to dysfunctional uromodulin: an ongoing metamorphosis.

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations: seek and you will find.

Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.

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