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

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Journal of medical genetics - 1 Dec 2010

Papon J F, Perrault I, Coste A, Louis B, Gérard X, Hanein S, Fares-Taie L, Gerber S, Defoort-Dhellemmes S, Vojtek A M, Kaplan J, Rozet J M, Escudier E

Abstract excerpt

BACKGROUND: Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues. METHODS: Seven LCA patients with CEP290 mutations were investigated to study otorhinolaryngologic phenotype and respiratory cilia. Nasal biopsies and brushing were performed to study...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Neoplasm
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Gene Expression Profiling

Share to Leber Congenital Amaurosis

Share to Microscopy, Video

Share to Neoplasm Proteins

Source

Identifiers

PMID: 20805370
DOI: 10.1136/jmg.2010.077883

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.PMID 20805370Read ↗

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.Semantic proximity Read ↗

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptorsSemantic proximity Read ↗

Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.Semantic proximity Read ↗

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.Semantic proximity Read ↗

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.Semantic proximity Read ↗

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Semantic proximity Read ↗

Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.Semantic proximity Read ↗

Dual molecular diagnosis of CEP290 and GLI3 mutations identified in an infant with leber congenital amaurosis and postaxial polydactyly, a Bardet-Biedl syndrome phenocopy.Semantic proximity Read ↗

Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.Semantic proximity Read ↗

A novel CEP290 disease-causing variant identified in a patient with leber congenital amaurosis using a medical diagnostic panel sequencing.Semantic proximity Read ↗

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.Semantic proximity Read ↗

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.Semantic proximity Read ↗

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