Ask about this productRelated genes to: GUCA1B antibody
- Gene:
- GUCA1B NIH gene
- Name:
- guanylate cyclase activator 1B
- Previous symbol:
- -
- Synonyms:
- GCAP2, RP48
- Chromosome:
- 6p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1996-12-18
- Date modifiied:
- 2015-11-19
Related products to: GUCA1B antibody
Related articles to: GUCA1B antibody
- Retinitis pigmentosa sine pigmento (RPSP) is a atypical variant of inherited retinal degeneration characterized by the absence of retinal pigment deposits observed in typical retinitis pigmentosa, which poses significant challenges to clinical diagnosis and genetic investigation. Although high-throughput sequencing technologies have revolutionized the identification of disease-causing genes, studies on RPSP are limited. Therefore, this study aimed to analyze the clinical manifestations and genetic profiles of two patients with RPSP. Two novel potential disease-causing mutations were identified. Patient 1 had a heterozygous missense mutation (c.45G > C, p.Glu15Asp) in the GUCA1B gene, whereas Patient 2 had a homozygous frameshift insertion mutation (c.134_137dupCGGC, p.Ala47Glyfs*4) in the ABHD12 gene. Multimodal imaging techniques, including optical coherence tomography, fundus autofluorescence, adaptive optics scanning laser ophthalmoscope, and fluorescein angiography, combined with visual electrophysiological assessments revealed the structural and functional retinal alterations associated with RPSP. Bioinformatics analysis revealed that these mutations can respectively contributed to disease development by affecting calcium ion regulation in photoreceptor cells and by influencing the hydrolyzing of lysophosphatidylserine (lyso-PS). This study is the first to link novel mutations in GUCA1B and ABHD12 to RPSP. The findings highlight the critical importance of integrating multimodal imaging with genetic profiling in enhancing early diagnostic accuracy and refining genetic counseling strategies for this understudied condition. - Source: PubMed
Publication date: 2025/10/20
Wu YujieWang HaochenZhang JingkaiWang XiufangWu XiaohanMao ChunjieSun YajieZhou Wei - A subset of ophthalmic imaging examination results from 334 patients were subjected to reanalysis to identify a specific group of patients with pigment epithelial detachment (PED) in at least one eye. Overall, we found a subgroup of 47 patients manifesting PED and studied their genotypes in comparison to those of patients with age-related macular degeneration without PED and healthy controls. We established a polygenic risk score that allowed the explanation of 16.3% of the variation within the disease. The highest predictive value was achieved for a model consisting of six non-coding variants: rs760306 (), rs148662546 (), rs11569560 (), rs74600252 (), rs2240688 (), and rs185507582 (). The risk of PED occurrence was found to be the highest in the first tercile, showing a 7.89-fold higher risk compared to the third tercile for AMD without PED (95% CI: 2.87; 21.71, < 0.001) and a 7.22-fold higher risk compared to the healthy controls (95% CI: 2.60; 20.06, < 0.001). In addition, we focused on rare variants in targeted genes. The rare variants' burden was compared among the groups, but no statistical significance was observed in the number of rare variants, predicted functional effects, or pathogenicity classification. - Source: PubMed
Publication date: 2023/08/27
Wąsowska AnnaSendecki AdamBoguszewska-Chachulska AnnaTeper Sławomir - The aim of this study was to identify the hub genes and uncover the molecular mechanisms of diabetic retinopathy (DR). - Source: PubMed
Xiong J-HChen J-LLiang J-YZhang F-FCheng S-M
- Source: PubMed
- Inhibition of poly-ADP-ribose polymerase 1 (PARP1) could relieve phosphodiesterase 6 mutation-induced retinitis pigmentosa (RP). However, the mechanism related to PARP1 overexpression in the RP has not been clarified. We attempted to explore the potential mechanism related to PARP1 regulating RP. - Source: PubMed
Publication date: 2022/02/11
Xu WenrongLi YanDong YujieXiao LiboLi LanJiao Kangwei