Collection tube bulk
- Known as:
- Collection tube bulk
- Catalog number:
- 17000CB
- Product Quantity:
- 1000ea
- Category:
- -
- Supplier:
- Intron
- Gene target:
- Collection tube bulk
Related genes to: Collection tube bulk
- 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: Collection tube bulk
Related articles to: Collection tube bulk
- To identify the features of brain involvement and to characterize the genetic causes of tuberous sclerosis (TS) in patients in the Republic of Bashkortostan. - Source: PubMed
Mustafin R N - Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms characterized by melanocytic and smooth muscle differentiation. Although the kidney is a relatively common site, malignant renal PEComa is exceedingly rare, particularly in patients with tuberous sclerosis complex (TSC). Overlapping radiologic features between angiomyolipoma and malignant PEComa often result in diagnostic challenges. - Source: PubMed
Publication date: 2026/03/30
Li ShilongZhang NengYin Yongjin - The limited and inconsistent efficacy of existing therapies for tuberous sclerosis complex (TSC) has driven the exploration of novel strategies, including epigenetic regulation. GSK-J4, an inducer of global H3K27me3 accumulation, shows broad anti-tumor activity. However, its therapeutic potential in TSC remains unclear. In the study, we reported that GSK-J4 inhibited cell cycle progression and induced apoptosis in primary and MEFs. Mechanistically, or deletion reduced global H3K27me3, correlating with increased viability, accelerated cell cycle, and suppressed apoptosis-phenotypes reversed by GSK-J4. Moreover, GSK-J4 triggered endoplasmic reticulum stress (ERS) by activating the PERK-ATF4-CHOP axis, which concurrently downregulated the proto-oncogene c-Myc, outlining a GSK-J4→p-PERK→c-Myc inhibitory pathway. Notably, GSK-J4 synergized with rapamycin to enhance cell cycle arrest and apoptosis. , this combination alleviated renal impairment in - or -deficient models, suggesting a promising therapeutic strategy for TSC patients with suboptimal response to mammalian target of rapamycin complex 1 (mTORC1) inhibitors. Our study elucidates a specific ERS-dependent anti-tumor mechanism of GSK-J4 in -deficient contexts and demonstrates the synergistic efficacy of combining epigenetic and mTORC1 inhibitors. - Source: PubMed
Publication date: 2026/03/27
Lei XinLang TaoLi PingWu Changxin - Low-grade myofibroblastic sarcoma (LGMS) is a rare, indolent mesenchymal neoplasm exhibiting myofibroblastic differentiation, with a propensity for local recurrence. The molecular basis of LGMS and its precise relationship with other histologic mimics have remained largely undefined. To address this gap, we conducted the first comprehensive multiomics analysis of six LGMS cases, integrating whole-exome sequencing (WES), RNA sequencing, and Illumina MethylationEPIC v2 array profiling, with comparative analysis against public sarcoma methylation cohorts and related fibroblastic tumors. Clinically, patients (median age 35.5 years) presented with small tumors (median 1.45 cm), predominantly located in the head and neck, displaying classic histologic features of diffusely infiltrative spindle cell fascicles with patchy mononuclear inflammation. Two of five patients with follow-up developed local recurrence, and none metastasized (median follow-up 92.5 months). Genomically, all LGMS exhibited low tumor mutational burden (median 2.31 mut/Mb) and minimal fraction of genome altered, with TP53 and TSC2 deletions and NTRK1 and ERBB3 amplifications found in a subset of cases. No pathogenic fusions were detected. Transcriptomic profiling revealed a distinct signature featuring prominent USP6 overexpression and upregulation of inflammatory and immune-related genes, including CD274 (PD-L1), and enrichment of inflammatory and interferon-γ response signatures. Epigenetically, LGMS formed a unique methylation cluster closest to inflammatory myofibroblastic tumor, with numerous differentially methylated regions and higher immune infiltration, particularly monocytes, compared with other fibroblastic tumors. These findings establish LGMS as a genomically stable, epigenetically distinct myofibroblastic sarcoma driven by USP6 overexpression and an inflammation-enriched transcriptome. They support its recognition as a standalone entity, facilitate integration into methylation-based sarcoma classifiers for improved diagnostic precision, and nominate USP6-associated pathways and immune checkpoint blockade as promising therapeutic strategies for recurrent or unresectable disease. - Source: PubMed
Publication date: 2026/04/09
Yeung Maximus C FCheung Horace M HLiu Anthony P YShek Tony W H - This review aims to integrate current knowledge on how mTORC1-centered metabolic and stress-response pathways regulate endometrial decidualization, cellular senescence, and receptivity, with particular emphasis on their impact on implantation in advanced maternal age and metabolic disorders. A literature search was conducted using PubMed and Google Scholar without temporal restrictions, and studies were selected according to predefined inclusion and exclusion criteria focusing on metabolic signaling and reproductive function. Physiological mTORC1 activation during the proliferative phase supports stromal cell proliferation, protein synthesis, and initiation of decidualization, while facilitating formation and clearance of physiological senescent cells. Conversely, sustained mTORC1 activation associated with aging or metabolic dysfunction enhances cellular senescence and the senescence-associated secretory phenotype (SASP) through autophagy suppression, increased oxidative stress, and DNA damage, leading to impaired decidualization and reduced endometrial receptivity. This pattern aligns with the principle of antagonistic pleiotropy, whereby traits advantageous for reproduction in youth become detrimental to tissue function later. Dysregulation of mTORC1 and its related pathways-including AMPK, Tuberous Sclerosis Complex 2 (TSC2), and the p53 axis-is linked to implantation failure, particularly in advanced maternal age, obesity, and insulin resistance. In conclusion, mTORC1-centered metabolic and stress-response networks are fundamental regulators of endometrial maturation and senescence. Incorporating the assessment of mTORC1 activity and aging-associated markers may improve endometrial evaluation and reproductive outcomes, particularly in women of advanced reproductive age. Furthermore, such approaches may also enhance diagnostic precision and potentially increase success rates in assisted reproductive technologies (ART). - Source: PubMed
Publication date: 2026/04/08
Kobayashi HiroshiNishio MikiUmetani MaiShigetomi HiroshiImanaka ShogoHashimoto Hiratsugu