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

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).

American journal of human genetics - 1 Jan 2004

Tuson Miquel, Marfany Gemma, Gonzàlez-Duarte Roser

Abstract excerpt

Retinitis pigmentosa (RP), the main cause of adult blindness, is a genetically heterogeneous disorder characterized by progressive loss of photoreceptors through apoptosis. Up to now, 39 genes and loci have been implicated in nonsyndromic RP, yet the genetic bases of >50% of the cases, particularly of the recessive forms, remain unknown. Previous linkage analysis in a Spanish consanguineous family allowed us to...

Read the complete abstract on PubMed

Topics

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

Share to Base Pair Mismatch
Share to Consensus Sequence
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Restriction Mapping

Share to Retinitis Pigmentosa

Share to Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 14681825
DOI: 10.1086/381055
PMCID: PMC1181900

Genes

CERKL

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

Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).PMID 14681825Read ↗

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.Semantic proximity Read ↗

A New Cerkl Mouse Model Generated by CRISPR-Cas9 Shows Progressive Retinal Degeneration and Altered Morphological and Electrophysiological Phenotype.Semantic proximity Read ↗

Novel compound heterozygous mutations in CERKL cause autosomal recessive retinitis pigmentosa in a nonconsanguineous Chinese family.Semantic proximity Read ↗

CERKL mutation causing retinitis pigmentosa(RP) in Indian population - a genotype and phenotype correlation study.Semantic proximity Read ↗

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History.Semantic proximity Read ↗

A founder mutation in CERKL is a major cause of retinal dystrophy in FinlandSemantic proximity Read ↗

Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.Semantic proximity Read ↗

CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retinaSemantic proximity Read ↗

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.Semantic proximity Read ↗

High transcriptional complexity of the retinitis pigmentosa CERKL gene in human and mouse.Semantic proximity Read ↗

Targeted knockdown of Cerkl, a retinal dystrophy gene, causes mild affectation of the retinal ganglion cell layer.Semantic proximity Read ↗

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