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

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

PloS one - 1 Jan 2017

Chiereghin Chiara, Robusto Michela, Mastrangelo Antonio, Castorina Pierangela, Montini Giovanni, Giani Marisa, Duga Stefano, Asselta Rosanna, Soldà Giulia

Abstract excerpt

Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal portion of patients. Here, we applied whole-exome sequencing (WES) in 3 Italian families negative after candidate-gene analyses. In Family 1, we identified a novel...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Nephritis, Hereditary

Share to Pedigree

Share to RNA Splicing

Share to Sequence Analysis

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 28570636
DOI: 10.1371/journal.pone.0178630
PMCID: PMC5453569

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.PMID 28570636Read ↗

Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variantSemantic proximity Read ↗

Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre ExperienceSemantic proximity Read ↗

Functional Validation of Spliceogenic COL4A3 and COL4A4 Variants by Minigene Assays Refines Molecular Diagnosis of Alport SyndromeSemantic proximity Read ↗

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.Semantic proximity Read ↗

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.Semantic proximity Read ↗

Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, BrazilSemantic proximity Read ↗

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.Semantic proximity Read ↗

Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature ReviewSemantic proximity Read ↗

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Semantic proximity Read ↗

Sequential sequencing reveals the architecture and complexity of genomic variants in patients with Alport syndrome.Semantic proximity Read ↗

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing.Semantic proximity Read ↗

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