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

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

3 Sept 2019

Abstract excerpt

X-linked Alport syndrome (XLAS) is a congenital renal disease caused by mutations in COL4A5. In XLAS cases suspected of being caused by aberrant splicing, transcript analysis needs to be conducted to determine splicing patterns and assess the pathogenicity. However, such analysis is not always available. We conducted a functional splicing assay using a hybrid minigene for seven COL4A5 intronic mutations: one was...

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 Renal and related cancers
Share to RNA Research and Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31481700
DOI: 10.1038/s41598-019-48990-9

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

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayPMID 31481700Read ↗

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

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

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

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

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

Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified VariantsSemantic proximity Read ↗

mRNA Analysis Identifies deep Intronic Splicing Variants Leading to Alport Syndrome and Overcomes the Problem of Negative Results of Exome SequencingSemantic proximity Read ↗

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

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

A wave of deep intronic mutations in X-linked Alport syndrome.Semantic proximity Read ↗

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.Semantic proximity Read ↗

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