ADAMTS18
- Known as:
- ADAMTS18
- Catalog number:
- 001170A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADAMTS18
Related genes to: ADAMTS18
- 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
Related articles to: ADAMTS18
- 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 - Inherited retinal dystrophies (IRDs) are a diverse group of monogenic disorders associated with dysfunction of the retina. High myopia, commonly defined as a spherical equivalent ≤ -6.00 D or axial length ≥ 26.5 mm, is a recurring clinical feature across several IRDs, and could serve as an early diagnostic clue. This review provides a summary of IRDs associated with high myopia to guide the clinician in establishing a molecular diagnosis for patients. We performed a comprehensive literature review of articles in PubMed, ScienceDirect, and JAMA Network to identify associations between monogenic IRDs and high myopia. Genes associated with IRDs and high myopia clustered into functional categories that included collagen/structural integrity (, , , , ), phototransduction and visual cycle (, , , , ), ciliary trafficking and microtubule-associated genes (, , , , ), synaptic ribbon and bipolar cell signaling (, , , , , ), opsin-related genes (, ), and miscellaneous categories (, , ). Associations between IRDs and high myopia spanned stationary and progressive retinal disorders and included both cone-dominant and rod-dominant diseases. High myopia accompanied by other visual symptoms and signs such as nyctalopia, photophobia, or reduced best-corrected visual acuity should heighten suspicion for an underlying IRD. Earlier diagnosis of IRDs for patients could facilitate timely genetic counseling, participation in clinical trials, and interventions for patients to preserve vision. - Source: PubMed
Publication date: 2025/10/11
Liu CyndySheri NarinBenson Matthew D - Remodeling of the extracellular matrix (ECM) plays a crucial role in the development, maintenance, and repair of all tissues. Therefore, identifying the regulators of this process is essential. Among these, A disintegrin and metalloproteinase with thrombospondin motifs 18 (ADAMTS18) has been implicated in fibronectin (FN) matrix regulation. Knockout of ADAMTS18, either in mouse models or in vitro, was shown to lead to FN accumulation, mutation in epithelial branching, and reduction in endothelial sprouting. However, the mechanisms by which ADAMTS18 influences endothelial-specific functions and the ECM, particularly in the regulation of FN fibrils, remain unclear. In this study, using both siRNA-mediated knockdown and overexpression of ADAMTS18 in primary endothelial cells (ECs), we delineated some of these mechanisms. Using global RNA-Seq of ECs, we demonstrated differential gene regulation of vessel development and endothelial adhesion genes with ADAMTS18 siRNA knockdown, whereas cell matrix- and cell cycle-associated genes were affected by overexpression of ADAMTS18. Consistent with the latter, we observed reduced EC proliferation and altered cell cycle with ADAMTS18 overexpression. Using mass spectrometry, we identified two sites in FN that are proteolytically cleaved by ADAMTS18, including a cleavage site in the linker FN-I. Cleavage at this site generated FN molecules lacking the N-terminal FN-I (29 kDa) fragment that is known to be essential for FN fibrillogenesis. Accordingly, ADAMTS18 overexpression greatly impaired FN fibrillogenesis in endothelial cultures and in coculture with fibroblasts. Our results implicate ADAMTS18 in FN-associated ECM remodeling and suggest an important role for ADAMTS18 in endothelium biology. - Source: PubMed
Publication date: 2025/10/22
Barbiera MariaGynther MikkoTerasaki TetsuyaJauhiainen SuviLaakkonen Johanna PJeltsch MichaelYlä-Herttuala SeppoLaham-Karam Nihay