Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

12 Apr 2017

Abstract excerpt

BACKGROUND: Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). However, the MUC1 mutation was found to be a single cytosine insertion in a single copy of the GC-rich variable number of tandem repeats (VNTRs), which are very difficult to analyze by...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Genetic and Kidney Cyst Diseases
Share to Kidney Stones and Urolithiasis Treatments
Share to Pediatric Urology and Nephrology Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29156055
DOI: 10.1093/ndt/gfx083

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 proteinPMID 29156055Read ↗

Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.Semantic proximity Read ↗

Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.Semantic proximity Read ↗

Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and ProgressionSemantic proximity Read ↗

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

Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.Semantic proximity Read ↗

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

Phenotype and genotype of autosomal dominant tubulointerstitial kidney disease in a Japanese cohortSemantic proximity Read ↗

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.Semantic proximity Read ↗

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

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in IrelandSemantic proximity Read ↗

Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.