ADAMTS10
- Known as:
- ADAMTS10
- Catalog number:
- 001163A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ADAMTS10
Related genes to: ADAMTS10
- Gene:
- ADAMTS10 NIH gene
- Name:
- ADAM metallopeptidase with thrombospondin type 1 motif 10
- Previous symbol:
- -
- Synonyms:
- ADAM-TS10
- Chromosome:
- 19p13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-04-05
- Date modifiied:
- 2019-03-22
Related products to: ADAMTS10
Related articles to: ADAMTS10
- The ADAMTS family are extracellular matrix (ECM) proteins and enzymes involved in regulating tissue structure and function. The ECM is a network of proteins and polysaccharides surrounding the cells that provide support and maintain cellular function. Mutations to proteins in the ECM lead to systemic connective tissue disorders by disrupting the structural integrity and maintenance of the ECM, resulting in ocular, musculoskeletal, skin, and cardiovascular abnormalities. Mutations that arise from the ADAMTS family lead to specific connective tissue disorders with distinct clinical characteristics. Here, we detail these distinct clinical features of major connective tissue disorders that arise from mutations in the ADAMTS family proteins. These include Ehlers Danlos syndrome arising from mutation in , Geleophysic Dysplasia from 2, Weill-Marchesani Syndrome from and , Ectopia lentis from , thoracic aortic aneurysms and dissection from , valvular disease in , and a further connective tissue disorder from mutations in This review details the mechanisms in which mutations to these genes impair the structure of the ECM, leading to the variety of phenotypic outcomes seen in connective tissue disorders. - Source: PubMed
Publication date: 2026/03/31
Alcocer Ana DRush Elizabeth HMead Timothy J - Weill–Marchesani syndrome (WMS) is a rare connective tissue disorder. The main clinical features include short stature with a stocky build, brachydactyly, joint stiffness, and microspherophakia. The syndrome can be inherited in an autosomal dominant manner due to heterozygous pathogenic variants in , as well as in an autosomal recessive manner associated with biallelic pathogenic variants in ,, or Despite differences in inheritance patterns, the clinical manifestations are consistent. Therefore, clinical diagnosis requires genetic testing of the proband to determine the genotype, confirm the diagnosis. - Source: PubMed
Publication date: 2026/02/04
Li MengyangBai RongLian YuanyuanShu CanLi HuipingSheng Xunlun - Weill-Marchesani syndrome (WMS) is characterized by severe short stature, joint contractures, tight skin, heart valve and eye anomalies. WMS is caused by biallelic mutations in , , or , or mono-allelic mutations in Because bone growth is driven by chondrocyte proliferation and hypertrophy in the growth plates, the genetics of WMS suggests that the affected extracellular matrix (ECM) proteins contribute to chondrocyte and growth plate function. Here, we show that ; double knockout (DKO) mice have significant postnatal lethality and exacerbated bone shortening, which correlated with a narrower hypertrophic zone in their growth plates. Potential ADAMTS17 substrates identified by N-terminomics and yeast-2-hybrid screening revealed the ECM proteins fibronectin () and collagen VI (). In primary ADAMTS10- and ADAMTS17-deficient skin fibroblasts, fibronectin deposition was impaired concomitant with aberrant intracellular accumulation of fibrillin-1. These findings support a role for ADAMTS17 in ECM protein secretion and assembly. Mechanistically, ADAMTS17 appears to be a critical regulator of ECM protein secretion or pericellular matrix assembly, whereas ADAMTS10 likely modulates ECM formation at later stages. - Source: PubMed
Publication date: 2025/10/01
Taye NandarajKaroulias Stylianos ZBalic ZerinaWang Lauren WWillard Belinda BMartin DanielRichard DanielOkamoto Alexander SCapellini Terence DApte Suneel SHubmacher Dirk - The German Black Pied cattle (DSN) is an endangered dual-purpose breed valued for its genetic diversity and high milk fat and protein content. However, due to competition with higher-yielding dairy breeds, the DSN population has declined, leading to its designation as an endangered breed. While previous research has focused on the milk production traits of DSN, this study aims to address meat traits to further understand the genetic determination of the dual-purpose characteristics of the breed. We conducted genome-wide association studies on 669 DSN bulls to identify genetic loci associated with birth weight, BW, and BW gain at different growth stages. Using imputed whole-genome sequencing data, we identified 14 quantitative trait loci across ten chromosomes. Significant associations were found for birth weight on chromosomes 5 and 18, for body weight at 3 weeks (BW) on chromosomes 3 and 16, for body weight at 7 months (BW) on chromosomes 3 and 10, and for body weight gain from birth or 3 weeks to 18 months (BWG, BWG) on chromosomes 4 and 7. Key positional candidate genes influencing muscle and fat tissue development included RERGL and LMO3 (identified for birth weight), MET and CAPZA2 (identified for BWG) which are essential for skeletal muscle development and actin filament regulation, respectively, TLN2 (identified for BW), MYO1F and ADAMTS10 (identified for BWG) which are critical for actin filament assembly, cytoskeletal function, and skeletal development, respectively. Candidate genes such as CPT2 (identified or BW) and VPS13C (identified or BW) are involved in lipid metabolism and mitochondrial function. Additionally, candidate genes such as IGSF3 (identified for BW), KLRC1 and members of the C-type lectin family (identified for birth weight) are associated with immune regulation, and thus, suggest a potential interplay between metabolism, immune function, and growth efficiency. These findings highlight the distinct genetic mechanisms underlying growth at various developmental stages, underscoring the importance of breed-specific genetic evaluations. The identified loci also overlap with previously reported loci for meat and production traits in other cattle breeds, underscoring their relevance and potential utility in DSN breeding strategies. This study provides a foundation for conservation and genomic breeding strategies to maintain the dual-purpose characteristics of DSN through optimising both meat and milk production. - Source: PubMed
Publication date: 2025/05/07
Korkuć PReißmann MBrockmann G A - To investigate the level of pro-inflammatory cytokines in aqueous humor from ADAMTS10-mutant research Beagles at an early stage of open-angle glaucoma (OAG). - Source: PubMed
Publication date: 2025/02/13
Collins ElisabethHarman Christine DJacobson Amanda LMehaffy CarolinaLove Kim RKomáromy András Mde Linde Henriksen Michala