ADAMTS18 siRNA_Lentivectors
- Known as:
- ADAMTS18 siRNA_Lentivectors
- Catalog number:
- i000563c
- Product Quantity:
- 500ng
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADAMTS18 siRNA_Lentivectors
Related genes to: ADAMTS18 siRNA_Lentivectors
- Gene:
- ADAMTS18 NIH gene
- Name:
- ADAM metallopeptidase with thrombospondin type 1 motif 18
- Previous symbol:
- ADAMTS21
- Synonyms:
- -
- Chromosome:
- 16q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-02-13
- Date modifiied:
- 2016-10-05
Related products to: ADAMTS18 siRNA_Lentivectors
Related articles to: ADAMTS18 siRNA_Lentivectors
- Keratoconus is a corneal disorder that causes thinning and bulging of the cornea, resulting in astigmatism and other refractive errors. Mechanical effects and environmental factors are known to exacerbate the disease, and genetic predisposition plays a significant role in its development. This study investigated the presence of genetic variants in 32 keratoconus patients. We used a next-generation sequencing-based method, and variant interpretation was performed according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Variants were prioritized based on multiple criteria, including population frequency data from the Genome Aggregation Database (gnomAD) (minor allele frequency < 1%), variant type and predicted functional effect, gene-disease association, inheritance pattern, phenotypic relevance, and in silico prediction tools. Thirteen variants were identified in 11 patients (34.3%). Two patients carried variants in two different genes, raising the possibility of oligogenic contributions. Ten variants (76.9%) were novel. The variants were detected in 12 genes, namely , , , , , , , , , , , and . No association was observed between detected variants and patient age. Our findings demonstrate a substantial proportion of novel variants and support the genetic heterogeneity of keratoconus, while also raising the possibility of oligogenic contributions in a subset of patients. - Source: PubMed
Publication date: 2026/05/27
Paksoy BarısDogan BernaCengiz Ünal AyşeKizildag Ozbay Esra - ADAMTS18 is a secreted metalloproteinase implicated in vascular homeostasis and protection against ischemic brain injury. However, its clinical relevance in acute ischemic stroke (AIS) remains unclear. - Source: PubMed
Publication date: 2026/06/11
Cui TingWang HuanZhu YuyiChen MingxiChen YaqiWu KeyingLiu JunfengHao ZilongWu BoWang Deren - 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 - We aimed to measure ADAMTS18 expression in endometrial carcinoma (EC), atypical hyperplasia (AH), and normal endometrium, and determine its biological role in EC. Retrospectively, we analyzed clinicopathological data of the following groups: EC group (n = 64, endometrioid adenocarcinoma), AH group (n = 55), and control group (CON, n = 64, normal). ADAMTS18 expression was detected via immunohistochemical staining/immunofluorescence assay. Ishikawa EC cells were used in the following groups: ADAMTS18 group (overexpression plasmid), CON group (untreated), and NC group (null plasmid). The effects of ADAMTS18 on cell proliferation (CCK-8), migration/invasion (Transwell), and apoptosis (TUNEL) were assessed. ADAMTS18 expression was the lowest in the EC group and the highest in the CON group (P < 0.05). In Ishikawa cells, compared to the NC/CON groups, ADAMTS18 overexpression significantly decreased cell proliferation (after 72 h and 96 h), migration, and invasion, and enhanced cell apoptosis (all P < 0.05). Low ADAMTS18 expression was correlated with higher FIGO stage (≥ III) and larger tumor diameter (≥ 2 cm) in EC. ADAMTS18 downregulation was correlated with the poor prognosis of EC and suppressed tumor proliferation/invasion in vitro. ADAMTS18 overexpression modulated the behavior of EC cells by inhibiting their proliferation, invasion, and migration, and promoting their apoptosis. Functioning as a tumor suppressor, ADAMTS18 is a potential therapeutic target in EC. - Source: PubMed
Publication date: 2026/02/16
Li XinruiXu MingyueGuo XinXu Yanhua - Congenital eye malformations like microphthalmia-anophthalmia-coloboma (MAC), anterior segment dysgenesis (ASD), primary congenital glaucoma (PCG) and congenital cataracts (CC) are significant causes of childhood visual impairment. Phenotypic heterogeneity often complicates diagnosis. The goal of this study was to optimize the diagnostic strategy for next-generation sequencing (NGS)-based procedures, thereby aiming to identify genetic causes of congenital eye malformations. Forty patients with congenital eye malformations were included. A primary diagnostic testing (PD) of a limited number of genes was followed by multigene panel (MGP) testing, including 186 eye-related genes, and exome sequencing. Causative variants were identified in 17 patients (43%) and clinically relevant variants of uncertain significance (VUS) in 6 patients (15%). PD had a diagnostic yield (DY) of 15%, MGP of 29% and exome sequencing of 4%, leading to a cumulative DY of 43%. Diagnostic rates were highest in CC (75%), bilateral cases (46%), complex ocular phenotypes (78%), patients with extraocular manifestations (55%) and positive family history (70%). Rare and possible new genotype-phenotype correlations and candidate genes (, ) could be identified. In total, eight (likely) pathogenic variants in six genes (, , , , , ) were not yet reported. A stepwise genetic testing approach starting with a broad multigene panel followed by exome sequencing provides higher diagnostic yield than limited phenotype-specific testing. Comprehensive genetic diagnosis is essential for prognosis, treatment and genetic counseling, underscoring the need for routine genetic testing and interdisciplinary collaboration in managing congenital eye malformations. - Source: PubMed
Publication date: 2025/10/10
Neuhann LukasLaner AndreasHolinski-Feder ElkeNeuhann Teresa