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

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

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

(2016) Brendan Blumenstiel et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

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

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

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

Reconstructing complex regions of genomes using long-read sequencing technology

(2014) J. Huddleston et al.   GENOME RESEARCH

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

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

MUC1 marks collecting tubules, renal vesicles, comma- and S-shaped bodies in human developing kidney

(2012) D. Fanni et al.   EUROPEAN JOURNAL OF HISTOCHEMISTRY

Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations

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

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood

(2011) Stanislas Faguer et al.   KIDNEY INTERNATIONAL

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

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