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

Mutations in human IFT140 cause non-syndromic retinal degeneration

27 Jul 2015

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 Genetic and Kidney Cyst Diseases
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 26216056
DOI: 10.1007/s00439-015-1586-x

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

Mutations in human IFT140 cause non-syndromic retinal degenerationPMID 26216056Read ↗

Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.Semantic proximity Read ↗

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.Semantic proximity Read ↗

A mutation in IFT43 causes non-syndromic recessive retinal degeneration.Semantic proximity Read ↗

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.Semantic proximity Read ↗

Pharmacological rescue of cilia trafficking defects in IFT140 retinal organoid and RPE models of retinal dystrophySemantic proximity Read ↗

Pathogenic mechanisms contributing to the vulnerability of aging human photoreceptor cellsSemantic proximity Read ↗

Early onset non-syndromic retinal degeneration due to variants in <i>INPP5E:</i> phenotypic expansion of the ciliary gene previously associated with Joubert syndromeSemantic proximity Read ↗

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disordersSemantic proximity Read ↗

The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy.Semantic proximity Read ↗

NMNAT1 variants cause cone and cone-rod dystrophySemantic proximity Read ↗

Retinal degeneration caused by mutations in TULP1.Semantic proximity Read ↗

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.Semantic proximity Read ↗

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