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

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay

16 Jun 2020

Abstract excerpt

BACKGROUND: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing....

Read the complete abstract on PubMed

Topics

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

Share to Cell Adhesion Molecules Research
Share to Coagulation, Bradykinin, Polyphosphates, and Angioedema
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32543079
DOI: 10.1002/mgg3.1342

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assayPMID 32543079Read ↗

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assaySemantic proximity Read ↗

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.Semantic proximity Read ↗

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant SplicingSemantic proximity Read ↗

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

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.Semantic proximity Read ↗

X-linked Alport syndrome caused by splicing mutations in COL4A5.Semantic proximity Read ↗

Identification of seven variants in the col4a1 gene that alter RNA splicing by minigene assay.Semantic proximity Read ↗

Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified VariantsSemantic 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 ↗

A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.Semantic proximity Read ↗

Presumed COL4A3/COL4A4 Missense/Synonymous Variants Induce Aberrant SplicingSemantic proximity Read ↗

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