Ciliopathy: Usher Syndrome.

doi:10.1007/978-3-031-72230-1_32

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

Community

Back to search

Article

Ciliopathy: Usher Syndrome.

Advances in experimental medicine and biology - 1 Jan 2025

Chiang Benjamin Kuang-Chien, Tsang Stephen H, Aycinena Alicia R P, Sharma Tarun

Abstract excerpt

There are nine known loci, USH1B to USH1K (no USH1A or USH1I).

Read the complete abstract on PubMed

Topics

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

Share to Cilia
Share to Ciliopathies
Share to Mutation
Share to Usher Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed

Identifiers

PMID: 40736834
DOI: 10.1007/978-3-031-72230-1_32

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 · 11 closest

Ciliopathy: Usher Syndrome.PMID 40736834Read ↗

Usher Syndrome: Genetics of a Human Ciliopathy.Semantic proximity Read ↗

The usher syndromes.Semantic proximity Read ↗

Novel mutations in MYO7A and USH2A in Usher syndrome.Semantic proximity Read ↗

Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.Semantic proximity Read ↗

Ciliopathy: Senior-Løken Syndrome.Semantic proximity Read ↗

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

Defective myosin VIIA gene responsible for Usher syndrome type 1B.Semantic proximity Read ↗

Exon 13-skipped USH2A protein retains functional integrity in mice, suggesting an exo-skipping therapeutic approach to treat USH2A-associated diseaseSemantic proximity Read ↗

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.Semantic proximity Read ↗

Usher proteins in inner ear structure and function.Semantic proximity Read ↗

Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.Semantic proximity Read ↗

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