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

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.

JAMA ophthalmology - 1 Aug 2025

Salameh Manar, Abu Tair Ghadeer, Mousa Samira, Obolensky Alexey, Swaroop Anand, Roosing Susanne, Mezer Eedy, Soudry Shiri, Karali Marianthi, Simonelli Francesca, Banfi Sandro, Banin Eyal, Ben-Yosef Tamar, Sharon Dror, Khateb Samer

Abstract excerpt

Importance: Uncovering the genetic basis of inherited retinal diseases (IRDs) can enhance both diagnostic accuracy and the development of targeted treatment strategies. Objective: To evaluate the association between a homozygous nonsense variant in CREB3 with IRDs. Design, Setting, and Participants: Thirteen patients with a clinical diagnosis of retinitis pigmentosa or cone-rod degeneration were analyzed by...

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 Cyclic AMP Response Element-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Exome Sequencing

Share to Founder Effect

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 40674075
DOI: 10.1001/jamaophthalmol.2025.2187
PMCID: PMC12272359

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration.PMID 40674075Read ↗

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.Semantic proximity Read ↗

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.Semantic proximity Read ↗

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.Semantic proximity Read ↗

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation.Semantic proximity Read ↗

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.Semantic proximity Read ↗

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.Semantic proximity Read ↗

A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndromeSemantic proximity Read ↗

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.Semantic proximity Read ↗

Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.Semantic proximity Read ↗

The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients.Semantic proximity Read ↗

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