COL11A1
- Known as:
- COL11A1
- Catalog number:
- Y213610
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- COL11A1
Related genes to: COL11A1
- Gene:
- COL11A1 NIH gene
- Name:
- collagen type XI alpha 1 chain
- Previous symbol:
- COLL6
- Synonyms:
- STL2, CO11A1
- Chromosome:
- 1p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-08
- Date modifiied:
- 2016-10-05
Related products to: COL11A1
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- Stickler syndrome is a genetically inherited vitreoretinopathy that can lead to retinal detachment from early childhood. There is currently no consensus preventive treatment. We aimed at determining whether sex influences the age of onset of rhegmatogenous retinal detachment (RRD) in and Stickler patients. - Source: PubMed
Publication date: 2026/05/04
Borella YséConstant AntoineRothschild Pierre-RaphaëlRobert Matthieu PBurin Des Roziers CyrilValleix SophieBrezin Antoine PBremond Gignac DominiqueDaruich Alejandra - : Early-onset high myopia (eoHM), defined as high myopia manifesting before 10 years of age, is largely attributed to genetic defects. This study aimed to investigate the genetic underpinnings of eoHM in a cohort of Chinese patients. : We recruited 64 Chinese patients with eoHM. Comprehensive clinical evaluations were performed, and whole exome sequencing (WES) was conducted to identify potential pathogenic variants. The genetic findings were analyzed and correlated with the clinical phenotypes. : A total of 64 unrelated Chinese patients with suspected early-onset high myopia were initially recruited. Following whole exome sequencing (WES) and variant annotation, final 37 patients with variants in known myopia-associated genes were included in the analytical cohort. The mean age of onset for the cohort was 5 years (IQR, 4-7), with a mean spherical equivalent refraction of -7 D (IQR, (-8)-(-6)). Genetic analysis revealed variants in 28 known myopia-associated genes. We identified pathogenic or likely pathogenic variants in 11 of the 37 patients (29.7%, 95%CI: 0.1737-0.4590), while the overall diagnostic yield was 17.2% (11/64, 95%CI: 0.0970-0.2839) in initial 64 recruited patients. These genes included seven well-established eoHM-related genes, such as ARR3, CACNA1F, P4HA2, TRPM1, COL11A1, COL2A1, and PAX6. Additionally, variants of uncertain significance (VUS) in seven other candidate genes were detected in patients with eoHM. : Our findings expand the genetic spectrum of eoHM and reinforce the critical role of genetic testing in its etiological diagnosis and clinical management. Observed patterns of genotype-phenotype associations are descriptive and should be considered hypothesis-generating, requiring validation in larger cohorts. Additionally, we identify several candidate genes that may serve as prospective biomarkers, though these findings require validation in larger cohorts and functional studies. - Source: PubMed
Publication date: 2026/03/29
Liu XueChu HuihuiSun YaruZhao HaixiaYu Jifeng - Colorectal cancer (CRC) exhibits extensive cellular heterogeneity and complex tumor microenvironment (TME) interactions, which influence tumor progression and treatment response. However, the precise interplay between epithelial cells and cancer-associated fibroblasts and its prognostic relevance remain incompletely understood. - Source: PubMed
Publication date: 2026/04/27
Wu ShuoZhang GuancongYang JiajinWang Shuo - To diagnose undiagnosed Heritable Thoracic Aortic Disease (HTAD) using targeted Next-Generation Sequencing (NGS) technology on human aorta tissue obtained from a single-center biobank. - Source: PubMed
Publication date: 2026/04/17
Lee HaKim YoonjungKim Myeong SuLee Kyung-ASong Suk-Won - Collagen type XI alpha 1 (COL11A1) is overexpressed in pancreatic cancer and is often associated with poor survival, chemoresistance, and tumor recurrence. However, the role of COL11A1 in pancreatic cancer remains poorly understood. - Source: PubMed
Wang HuiZhi ShuangYang ZiboGu NaDai LinlinCai JunWang JuanLi Dongdong