GJA8 Blocking Peptide, Blocking Peptides
- Known as:
- GJA8 Blocking Peptide, Blocking Peptides
- Catalog number:
- 33R-2381
- Product Quantity:
- 100 ug
- Category:
- -
- Supplier:
- Fitzgerald
- Gene target:
- GJA8 Blocking Peptide Peptides
Related genes to: GJA8 Blocking Peptide, Blocking Peptides
- Gene:
- GJA8 NIH gene
- Name:
- gap junction protein alpha 8
- Previous symbol:
- CAE1, CZP1, CAE
- Synonyms:
- CX50
- Chromosome:
- 1q21.2
- Locus Type:
- gene with protein product
- Date approved:
- 1995-11-29
- Date modifiied:
- 2016-10-05
Related products to: GJA8 Blocking Peptide, Blocking Peptides
Related articles to: GJA8 Blocking Peptide, Blocking Peptides
- The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. - Source: PubMed
Publication date: 2026/01/20
Elmakkawy GehadNabil AmiraNabil KarimAmin Asmaa KenawyMaskill DavidAli ManirSchorderet DanielBayoumi NaderShakankiri NihalAbdalla Ebtesam - PurposeAnterior Segment Dysgenesis (ASD) encompasses a heterogeneous group of congenital ocular malformations resulting from disrupted differentiation of neural crest-derived tissues. These disorders frequently lead to developmental glaucoma, a major cause of childhood blindness. This review summarizes the current clinical, genetic, and management perspectives on ASD associated with glaucoma.MethodsA comprehensive literature search of PubMed, Scopus, and Web of Science (January 2000-August 2025) identified 186 relevant studies reporting clinical, molecular, and therapeutic findings. Data were synthesized across major ASD subtypes: aniridia, Axenfeld-Rieger anomaly, Peters anomaly, primary aphakia, and related entities.ResultsMutations in key transcriptional and structural genes-including -account for the majority of ASD cases. Novel associations involving have broadened the known genetic spectrum. Genotype-phenotype correlations explain the variability in glaucoma onset and treatment response among subtypes. Modern diagnostic strategies integrating anterior segment imaging with next-generation sequencing have improved early detection and prognostic accuracy. Management requires individualized surgical and medical approaches based on the underlying genetic mechanism.ConclusionASD-associated glaucoma exemplifies the interface between developmental genetics and clinical ophthalmology. Understanding gene-specific mechanisms aids precision diagnosis, risk stratification, and multidisciplinary care. Continued advances in molecular diagnostics and targeted therapies promise to transform outcomes for children with congenital anterior segment anomalies. Collaborative registries and functional genomics will be pivotal in translating molecular discoveries into targeted therapies and improved lifelong vision outcomes. - Source: PubMed
Publication date: 2026/04/05
Saha Bhawesh ChandraSinha Bibhuti PrassanKumari RashmiOnkar AbhishekSinha Rajnee - Congenital cataract is a major cause of blindness and severe visual impairment in children. It may occur as an isolated ocular abnormality or in combination with microcornea, microphthalmia, aniridia, or glaucoma. It can also be part of syndromic conditions. Whole-exome sequencing (WES) is now recognized as an appropriate first-line approach for genetic testing in patients with congenital cataract. In this study, we use WES to characterize the genotype spectrum in a pediatric cataract cohort from southern China. - Source: PubMed
Publication date: 2026/02/26
Huang TengSun Hai-SenLiu Ya-NanXie Qiu-LingLiu YangMiao Xue-ChuanWu WenhuiLi Jin - Precise post-transcriptional regulation of gene expression is essential for vertebrate lens development. Disruption of the gene encoding the RNA-binding protein CELF1 leads to early-onset cataract in mice. Here, using iCLIP-seq in lenses, we mapped transcriptome-wide CELF1 binding sites, revealing interactions with the 3'UTRs of key transcripts involved in lens development and pathology like , , , , or . Integrated analysis with transcriptomic data and luciferase reporter assays demonstrated that binding of CELF1 protein represses its target mRNAs by destabilizing transcripts and/or inhibiting their translation. Indeed, the cataract-linked genes and are upregulated in lenses. In , overexpression of resulted in abnormal lens structure and eye morphology, confirming the developmental relevance of CELF1-mediated repression. Our findings uncover a post-transcriptional network in which CELF1 controls lens morphogenesis by limiting the expression of critical genes at the mRNA level to achive their proper dosage. - Source: PubMed
Publication date: 2026/01/10
Viet JustineDuot MatthieuMéreau AgnèsAudic YannJan IwanReboutier DavidLe Goff-Gaillard CatherineCoomson Sarah YLachke Salil AGautier-Courteille CarolePaillard Luc - Congenital cataracts (CCs) are a leading cause of preventable childhood blindness, with genetic factors playing a crucial role in their etiology. Nance-Horan syndrome (NHS) is a rare X-linked dominant disorder associated with CCs but is often underdiagnosed due to variable expressivity, particularly in female carriers. : This study aimed to explore the genetic landscape of CCs in a Swiss cohort, focusing on two novel and one novel variants and their phenotypic presentation. : Whole-exome sequencing (WES) was conducted on 20 unrelated Swiss families diagnosed with CCs. Variants were analyzed for pathogenicity using genetic databases, and segregation analysis was performed. Clinical data, including cataract phenotype and associated systemic anomalies, were assessed to establish genotype-phenotype correlations. : Potentially pathogenic DNA sequence variants were identified in 10 families, including three novel variants, one in (c.584T>C) and two variants (c.250_252insA and c.484del). Additional previously reported variants were detected in , , , , , and , reflecting genetic heterogeneity in the cohort. Notably, variants displayed significant phenotypic variability, suggesting dose-dependent effects and X-chromosome inactivation in female carriers. : NHS remains underdiagnosed due to its variable expressivity and the late manifestation of systemic features, often leading to misclassification as isolated CC. This study highlights the importance of genetic testing in unexplained CC cases to improve early detection of syndromic forms. The identification of novel and variants provides new insights into the genetic complexity of CCs, emphasizing the need for further research on genotype-phenotype correlations. - Source: PubMed
Publication date: 2025/08/02
Delas FloraGloggnitzer JiradetMaspoli AlessandroKurmann LisaFrueh Beatrice EDacheva IvankaHildebrand DariusBerger WolfgangGerth-Kahlert Christina