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

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

Human mutation - 1 Jun 2010

Nichols Lorenzo L, Alur Ramakrishna P, Boobalan Elangovan, Sergeev Yuri V, Caruso Rafael C, Stone Edwin M, Swaroop Anand, Johnson Mary A, Brooks Brian P

Abstract excerpt

Leber congenital amaurosis (LCA) is a congenital retinal dystrophy characterized by severe visual loss in infancy and nystagmus. Although most often inherited in an autosomal recessive fashion, rare individuals with mutations in the cone-rod homeobox gene, CRX, have dominant disease. CRX is critical for photoreceptor development and acts synergistically with the leucine-zipper transcription factor, NRL. We report...

Read the complete abstract on PubMed

Topics

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

Share to Basic-Leucine Zipper Transcription Factors
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genes, Dominant

Share to Homeodomain Proteins

Share to Leber Congenital Amaurosis

Share to Protein Conformation

Share to Trans-Activators

Source

Open in PubMed Open full text

Identifiers

PMID: 20513135
DOI: 10.1002/humu.21268
PMCID: PMC2952391

Genes

CRX
NRL

Variants

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

Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.PMID 20513135Read ↗

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.Semantic proximity Read ↗

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.Semantic proximity Read ↗

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosisSemantic proximity Read ↗

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity Read ↗

Functional Domains of the Cone-Rod Homeobox (CRX) Transcription FactorSemantic proximity Read ↗

Novel frameshift mutations in CRX associated with Leber congenital amaurosis.Semantic proximity Read ↗

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.Semantic proximity Read ↗

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.Semantic proximity Read ↗

A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.Semantic proximity Read ↗

CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis.Semantic proximity Read ↗

Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX.Semantic proximity Read ↗

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.Semantic proximity Read ↗

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