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

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

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 May 2025

Kachmar Jessica, Saei Hassan, Morinière Vincent, Heidet Laurence, Knebelmann Bertrand, Gribouval Olivier, Mautret-Godefroy Manon, Burtey Stéphane, Vuiblet Vincent, Alla Asma, Ibalanky Axel, Moranne Olivier, Nizon Mathilde, Savenkoff Benjamin, Nitschké Patrick, Antignac Corinne, Dorval Guillaume

Abstract excerpt

RATIONALE & OBJECTIVE: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging because variants lie in a large variable number of tandem repeat (VNTR) region, making identification impossible using standard short-read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline named...

Read the complete abstract on PubMed

Topics

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

Share to Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MUC1 gene

Share to Genetic Testing

Share to Mucin-1

Share to Nephritis, Hereditary

Share to Phenotype

Source

Identifiers

PMID: 39848530
DOI: 10.1053/j.ajkd.2024.11.010

Genes

MUC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.PMID 39848530Read ↗

Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney diseaseSemantic proximity Read ↗

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney diseaseSemantic proximity Read ↗

Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease–MUC1 27dupC Pathogenic Variant through Exome SequencingSemantic proximity Read ↗

VNtyper 2 enables open-access short-read genotyping of MUC1 VNTR variants in ADTKD at high-speedSemantic 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 ↗

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

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

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations: An Observational StudySemantic proximity Read ↗

Eight-Fold Increased COVID-19 Mortality in Autosomal Dominant Tubulointerstitial Kidney Disease due to<i>MUC1</i>Mutations: An Observational StudySemantic proximity Read ↗

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

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

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

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