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

MERTK mutation update in inherited retinal diseases.

Human mutation - 1 Jul 2018

Audo Isabelle, Mohand-Said Saddek, Boulanger-Scemama Elise, Zanlonghi Xavier, Condroyer Christel, Démontant Vanessa, Boyard Fiona, Antonio Aline, Méjécase Cécile, El Shamieh Said, Sahel José-Alain, Zeitz Christina

Abstract excerpt

MER tyrosine kinase (MERTK) encodes a surface receptor localized at the apical membrane of the retinal pigment epithelium. It plays a critical role in photoreceptor outer segment internalization prior to phagocytosis. Mutations in MERTK have been associated with severe autosomal recessive retinal dystrophies in the RCS rat and in humans. We present here a comprehensive review of all reported MERTK disease causing...

Read the complete abstract on PubMed

Topics

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

Share to c-Mer Tyrosine Kinase
Share to Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Polymorphism, Single Nucleotide

Share to Retina

Share to Retinal Diseases

Share to Retinal Pigment Epithelium

Source

Identifiers

PMID: 29659094
DOI: 10.1002/humu.23431

Genes

MERTK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MERTK mutation update in inherited retinal diseases.PMID 29659094Read ↗

MERTK missense variants in three patients with retinitis pigmentosa.Semantic proximity Read ↗

A Comprehensive Review of Mutations in the MERTK Proto-Oncogene.Semantic proximity Read ↗

Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene.Semantic proximity Read ↗

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.Semantic proximity Read ↗

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.Semantic proximity Read ↗

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.Semantic proximity Read ↗

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene.Semantic proximity Read ↗

Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa.Semantic proximity Read ↗

A novel MERTK mutation causing retinitis pigmentosa.Semantic proximity Read ↗

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosaSemantic proximity Read ↗

MERTK-associated retinal dystrophy: clinical course and imaging.Semantic proximity Read ↗

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