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

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

Acta ophthalmologica - 1 Feb 2015

van Huet Ramon A C, Siemiatkowska Anna M, Özgül Riza K, Yücel Didem, Hoyng Carel B, Banin Eyal, Blumenfeld Anat, Rotenstreich Ygal, Riemslag Frans C C, den Hollander Anneke I, Theelen Thomas, Collin Rob W J, van den Born L Ingeborgh, Klevering B Jeroen

Abstract excerpt

PURPOSE: Defects in MAK, encoding a protein localized to the photoreceptor connecting cilium, have recently been associated with autosomal recessive retinitis pigmentosa (RP). The aim of this study is to describe our detailed clinical observations in patients with MAK-associated RP, including an assessment of syndromic symptoms frequently observed in ciliopathies. METHODS: In this international collaborative...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescein Angiography

Share to Protein Serine-Threonine Kinases

Share to Retinitis Pigmentosa

Share to Surveys and Questionnaires

Share to Tomography, Optical Coherence

Share to Visual Field Tests

Source

Identifiers

PMID: 25385675
DOI: 10.1111/aos.12500

Genes

MAK
ERG

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

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.PMID 25385675Read ↗

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.Semantic proximity Read ↗

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.Semantic proximity Read ↗

Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survivalSemantic proximity Read ↗

Intraretinal cystoid spaces in a patient with retinitis pigmentosa due to mutation in the MAK gene.Semantic proximity Read ↗

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.Semantic proximity Read ↗

Male germ cell-associated kinase is required for axoneme formation during ciliogenesis in zebrafish photoreceptors.Semantic proximity Read ↗

Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Male germ cell-associated kinase (MAK) is required for axoneme formation during ciliogenesis in zebrafish photoreceptorsSemantic proximity Read ↗

Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.Semantic proximity Read ↗

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.Semantic proximity Read ↗

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.Semantic proximity Read ↗

Five-Year Structural Progression in Monozygotic Twins with MAK Exon 3- Related Retinitis PigmentosaSemantic proximity Read ↗

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