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

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.

Mutation research. Reviews in mutation research - 1 Jan 2000

Imani Saber, Ijaz Iqra, Shasaltaneh Marzieh Dehghan, Fu Shangyi, Cheng Jingliang, Fu Junjiang

Abstract excerpt

Choroideremia (CHM) is a rare form of X-linked chorioretinal dystrophy that is caused by mutations in the CHM gene. Mutations in the Rab escort protein-1 (REP-1), an ubiquitously encoded protein of the CHM gene, lead to prenylation and vesicle trafficking deficiency in the protein, resulting in the progressive degeneration of choriocapillaris, retinal pigment epithelium (RPE), and photoreceptors. Despite previous...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to Choroideremia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CHM gene

Share to RPE gene

Share to Molecular Dynamics Simulation

Share to Mutation

Source

Identifiers

PMID: 29555028
DOI: 10.1016/j.mrrev.2018.02.001

Genes

CHM
RPE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.PMID 29555028Read ↗

Novel CHM mutations identified in Chinese families with Choroideremia.Semantic proximity Read ↗

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapySemantic proximity Read ↗

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.Semantic proximity Read ↗

The functional effect of pathogenic mutations in Rab escort protein 1.Semantic proximity Read ↗

CHM mutation spectrum and disease: An update at the time of human therapeutic trials.Semantic proximity Read ↗

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosaSemantic proximity Read ↗

Pathogenicity of a novel missense variant associated with choroideremia and its impact on gene replacement therapy.Semantic proximity Read ↗

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.Semantic proximity Read ↗

Choroideremia: molecular mechanisms and therapies.Semantic proximity Read ↗

Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation.Semantic proximity Read ↗

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.Semantic proximity Read ↗

CHOROIDEREMIA ASSOCIATED WITH A NOVEL SYNONYMOUS MUTATION IN GENE ENCODING REP-1.Semantic proximity Read ↗

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