ArticlePloS one2022
The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment.
Article in PloS one, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Pooled it
- A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.BMC ophthalmology · 2024Pooled it
- Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs).Biomedicines · 2025Review
- Inhibition of mTOR differently modulates planar and subepithelial fibrogenesis in human conjunctival fibroblasts.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Multifaceted disruption of AMPA receptor signaling byComputational and structural biotechnology journal · 2025Article
- Article
- Decoding cellular plasticity and niche regulation of limbal stem cells during corneal wound healing.Stem cell research & therapy · 2024Article
- Unveiling the role of CaMKII in retinal degeneration: from biological mechanism to therapeutic strategies.Cell & bioscience · 2024Review
- Investigating G-quadruplex structures inHeliyon · 2024Article
- The Logistical Backbone of Photoreceptor Cell Function: Complementary Mechanisms of Dietary Vitamin A Receptors and Rhodopsin Transporters.International journal of molecular sciences · 2024Review
- Transcriptional patterns of human retinal pigment epithelial cells under protracted high glucose.Molecular biology reports · 2024Article
- Peripheral blood transcriptomic analysis identifies potential inflammation and immune signatures for central retinal artery occlusion.Scientific reports · 2024Article
- The Role of Gut Microbiota in Neuromyelitis Optica Spectrum Disorder.International journal of molecular sciences · 2024Review
- Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.Clinical and translational medicine · 2024Article
- Piceid Octanoate Protects Retinal Cells against Oxidative Damage by Regulating the Sirtuin 1/Poly-ADP-Ribose Polymerase 1 Axis In Vitro and in rd10 Mice.Antioxidants (Basel, Switzerland) · 2024Article
- Methazolamide Reduces the AQP5 mRNA Expression and Immune Cell Migration-A New Potential Drug in Sepsis Therapy?International journal of molecular sciences · 2024Article
- Alteration Ocular Motility in Retinitis Pigmentosa: Case-Control Study.Clinical optometry · 2024Article
- Review
- Enhancer Recognition: A Transformer Encoder-Based Method with WGAN-GP for Data Augmentation.International journal of molecular sciences · 2023Article
- Data Mining of Microarray Datasets in Translational Neuroscience.Brain sciences · 2023Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs) with more than 30 already known disease-causing genes. Uncertain phenotypes and extended range of intra- and interfamilial heterogenicity make still difficult to determine a precise genotype-phenotype correlation. Here, we used a next-generation sequencing approach to study a Sicilian family with a suspected form of CORD. Affected family members underwent ophthalmological examinations and a proband, blind from 50 years, underwent whole genome and exome sequencing. Variant analysis was enriched by pathway analysis and relevant variants were, then, investigated in other family members and in 100 healthy controls from Messina. CORD diagnosis with an intricate pattern of symptoms was confirmed by ophthalmological examinations. A total of about 50,000 variants were identified in both proband's genome and exome. All affected family members presented specific genotypes mainly determined by mutated GUCY2D gene, and different phenotypical traits, mainly related to focus and color perception. Thus, we looked for possible modifier genes. According to relationship with GUCY2D, predicted functional effects, eye localization, and ocular disease affinity, only 9 variants, carried by 6 genes (CACNG8, PAX2, RXRG, CCDC175, PDE4DIP and LTF), survived the filtering. These genes encode key proteins involved in cone development and survival, and retina neurotransmission. Among analyzed variants, CACNG8c.*6819A>T and the new CCDC175 c.76C>T showed extremely low frequency in the control group, suggesting a key role on disease phenotypes. Such discovery could enforce the role of modifier genes into CORD onset/progression, contributing to improve diagnostic test towards a better personalized medicine.
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