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

Usher syndrome splicing variants evaluated in nasal epithelial cells.

Human mutation - 1 Jun 2010

Rogan Peter K

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Epithelial Cells
Share to Genetic Predisposition to Disease
Share to Molecular Diagnostic Techniques
Share to Nasal Cavity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to RNA Splice Sites

Share to RNA Splicing

Share to Usher Syndromes

Source

Identifiers

PMID: 20513139
DOI: 10.1002/humu.21291

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

Usher syndrome splicing variants evaluated in nasal epithelial cells.PMID 20513139Read ↗

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.Semantic proximity Read ↗

Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.Semantic proximity Read ↗

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.Semantic proximity Read ↗

Functional analysis of splicing mutations in MYO7A and USH2A genes.Semantic proximity Read ↗

Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.Semantic proximity Read ↗

Splicing aberration in naevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.Semantic proximity Read ↗

Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations.Semantic proximity Read ↗

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.Semantic proximity Read ↗

Functional analysis of <i>ESRP1/2</i> gene variants and <i>CTNND1</i> isoforms in orofacial cleft pathogenesisSemantic proximity Read ↗

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis.Semantic proximity Read ↗

Genotype Characterization and MiRNA Expression Profiling in Usher Syndrome Cell Lines.Semantic proximity Read ↗

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