Centrifuge tube 1.5ml (linked lid)
- Known as:
- Centrifuge tube 1.5ml (linked lid)
- Catalog number:
- ZD1012
- Product Quantity:
- 10000pc/carton
- Category:
- -
- Supplier:
- Zenplastic
- Gene target:
- Centrifuge tube 1.5ml (linked lid)
Related genes to: Centrifuge tube 1.5ml (linked lid)
- Gene:
- RNF146 NIH gene
- Name:
- ring finger protein 146
- Previous symbol:
- -
- Synonyms:
- DKFZp434O1427, dactylidin, dJ351K20.1
- Chromosome:
- 6q22.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2016-10-05
- Gene:
- TSC2 NIH gene
- Name:
- TSC complex subunit 2
- Previous symbol:
- TSC4
- Synonyms:
- tuberin, LAM, PPP1R160
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-25
- Date modifiied:
- 2019-04-23
Related products to: Centrifuge tube 1.5ml (linked lid)
Related articles to: Centrifuge tube 1.5ml (linked lid)
- To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole-exome sequencing (trio-WES) and characterize perinatal outcomes. - Source: PubMed
Publication date: 2026/06/06
Cai XLiu JZheng WJiao YLou YDeng MZhao WYan KSun L - Sarcoidosis is a chronic granulomatous disease marked by persistent inflammation and immune cell aggregation, yet its molecular underpinnings remain incompletely understood, hindering the development of effective targeted therapies. Here, we report that deletion of Tsc1 or Tsc2 in mice using a Fsp1-Cre leads to spontaneous formation of sarcoid-like granulomas, driven by hyperactivation of the mTORC1 pathway in fibroblasts and interstitial macrophages. Through inflammatory cytokine/chemokine array, we identified CCL24, a chemokine ligand for CCR3, as a key immunoregulatory molecule downregulated in both our murine model and sarcoid cohort plasma. Mechanistically, mTORC1 suppresses CCL24 expression via aberrant STAT3 signaling in fibroblasts and promotes CCR3 expression in interstitial macrophages, uncovering a novel regulatory axis in granuloma formation and maintenance. Pharmacological inhibition using rapamycin and azithromycin markedly attenuated granuloma burden and normalized CCL24-CCR3 signaling, underscoring the therapeutic relevance of this axis. Together, our study establishes a mechanistic link between mTORC1 activation, CCL24-CCR3 dysregulation, and granuloma persistence, offering not only a new insight into molecular mechanisms in sarcoidosis, but also identifying promising targets for clinical intervention. - Source: PubMed
Publication date: 2026/06/05
Rao XiongjianLiu JinpengAllison Derek BHarrison Douglas AFong Ka WingWu YuanyuanHe DahengPeng JiaLi ZhiguoWang ChiSturgill Jamie LSen ParijatLiu Xiaoqi - Tuberous sclerosis complex (TSC) and Lymphangioleiomyomatosis (LAM) lack well-defined cellular origins, limiting treatment options. In this report, scRNA-seq of Tsc2+/- mouse renal cystadenomas revealed an 80-fold increase in a tumor cell subpopulation with neural crest features, and expressing known cranial neural crest genes as SRY box transcription factor 9 (Sox9), transcription factor activator protein (Tfap2a), and candidate neurocristopathy markers, osteopontin (Spp1), lipocalin-2 (Lcn2), clusterin (Clu), and cytokeratin 18 (Krt18). These signatures were validated in mouse tumors, and LAM patient lesions and serum, identifying a tumor phenotype distinct from traditional VEGFD detection. Pathway analysis indicated activation of WNT/SHH signaling, nephric duct formation, and pro-tumorigenic signals, with transcription factor 7 (Tcf7) and ephrin-A ligands as key upstream regulators. Spp1 KO in cranial neural crest cells (CNCCs) significantly reduced proliferation (28-33%), migration (54-76%), and invasion (29-64%) without affecting viability, while Tsc2 KO increased viability 3 to 6-fold with minimal impact on chemotaxis. Elevated serum levels of SPP1 and KRT18 in some LAM patients, decreased LCN2 in nearly all, and distinct increases in VEGFD suggest complementary roles for these biomarkers. Overall, findings support a neurocristopathic model of tumor development in TSC and LAM and identify potential biomarkers and therapeutic targets beyond mTOR inhibition. - Source: PubMed
Publication date: 2026/06/02
Unachukwu Uchenna JGarcia Enio BRai NooralamD'Armiento Jeanine M - Stress granules (SGs) are dynamic, membrane-less ribonucleoprotein assemblies that form through liquid-liquid phase separation to prioritize stress-survival proteostasis. Through reanalysis of a genome-wide RNAi screen, we identified a set of conserved SG suppressor genes and validated the top candidate, Tsc2, in both mouse and human cell lines. We illustrate that the complete loss of leads to spontaneous, canonical, and translation-dependent SGs driven by mTORC1 hyperactivation in mouse embryonic fibroblasts (MEFs). In addition, the -deficient MEFs also sensitized to endoplasmic reticulum stress, delaying SG clearance. In human cell lines, the siRNA-mediated partial reduction of in U2OS cells, and in human tuberous sclerosis patient fibroblasts, does not induce spontaneous SGs. Instead, the sensitivity to ER stress, translation perturbation, and delay in clearance correlate with the remaining levels of TSC2, suggesting that TSC2 functions as a threshold-dependent regulator of SG assembly. Together, our findings provide a comprehensive list of novel conserved SG regulators and establish TSC2 as a key regulator of SG dynamics. - Source: PubMed
Publication date: 2026/05/24
Ma YizheFarny Natalie G - Epilepsy affects more than 50 million individuals globally and has a substantial genetic component that remains to be completely understood. Traditional studies have focused on severe, early onset cases enrolled through clinical or research settings. Recent biobank-based approaches, leveraging large-scale population datasets, offer opportunities to explore genetic associations in broader epilepsy phenotypes, including milder, later onset forms. We analyzed data from more than 750 000 individuals across the UK Biobank, All of Us, and Massachusetts General Brigham Biobank, including 20 026 individuals with epilepsy. Rare coding variant burden testing revealed a significant association with LGI1, a known epilepsy gene. Among the other top 10 associated genes, seven had prior evidence linking them to epilepsy (GABRG2, ATP1A3), neurological disorders with comorbid seizures (HTRA2, KRIT1, STAG1), possible involvement in seizure phenotypes (ADAM23), or roles in neuronal function (PDCD4). Thus, we provide the first statistical evidence for ADAM23 as a candidate gene for epilepsy, based on the suggestive association signal combined with prior biological evidence from both animal (canine and murine) and one recent human epilepsy case study, potentially contributing to human epilepsy through its direct interaction with LGI1. Phenome-wide analyses highlighted the pleiotropic effects of epilepsy genes, with LGI1 and ADAM23 predominantly associated with epilepsy, whereas other genes such as KRIT1, TSC1, and TSC2 exhibited broader systemic involvement. Our study shows the potential of population-scale genomic data and suggests that integrating these datasets with deep phenotyping will uncover more novel insights into epilepsy genetics in the future. - Source: PubMed
Publication date: 2026/05/30
Lal Jessica CastrillonLeu CostinBoßelmann Christian MIvaniuk AlinaPérez-Palma EduardoLal Dennis