Discharge tube
- Known as:
- Discharge tube
- Catalog number:
- 17100073
- Category:
- -
- Supplier:
- DragonLab
- Gene target:
- Discharge tube
Related genes to: Discharge tube
- 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: Discharge tube
Related articles to: Discharge tube
- Tuberous sclerosis complex (TSC) is an autosomal dominant disorder resulting from the mutations in the TSC1 and TSC2 genes and is distinguished by benign hamartoma formation in multiple organs. The TSC1-TSC2 complex regulates mTORC1 signaling in response to cellular growth conditions. This study aims to predict the structural stability and functional effects of non-synonymous single-nucleotide polymorphisms (nsSNPs) in human TSC1 and TSC2 using computational approaches. Twelve computational tools were assessed using receiver operating characteristic (ROC) analysis and applied to identify deleterious nsSNPs. Protein stability was predicted using I-Mutant 2.0 and MUpro, while evolutionary conservation was analyzed with ConSurf. NetPhos 3.1 identified potential PTM sites, and MutPred2.0 evaluated their functional impact. Project HOPE assessed mutation-induced physicochemical changes. Structural models were validated using multiple tools, visualized in ChimeraX 1.9, and further evaluated by molecular dynamics simulation to confirm wild-type and mutant stability. A combined in silico analysis identified twelve high-risk nsSNPs in TSC1 and sixteen in TSC2, all reducing protein stability, located in conserved regions, and potentially disrupting phosphorylation sites. MutPred and Project HOPE confirmed their impact on protein function. Functional analysis showed TSC1 and TSC2 affect mTORC1 and PI3K-Akt pathways. RMSF and RMSD analyses revealed that TSC1 variants rs1846545280 (G236E), and rs2132135678 (V234E), and TSC2 variants rs45517223 (S758C), rs2151354925 (T836P), and rs45517365 (R1570W) had the largest structural fluctuations. Substitution with glutamic acid, a negatively charged and bulkier residue, may disrupt local folding of TSC1. Similarly, replacement of arginine with tyrosine at position 1570 may impair Rheb binding at the GAP domain of TSC2. These findings highlight potentially pathogenic nsSNPs in TSC1 and TSC2. - Source: PubMed
Publication date: 2026/09/03
Alam TasnimAkther Shangida - Gastric cancer is a major global health issue, especially in advanced stages with metastasis. However, anti-angiogenic treatments such as ramucirumab target vascular endothelial growth factor, yet the exact mechanisms behind hematogenous metastasis remain unclear. This study analyzed RNA sequencing data from TCGA to identify angiogenesis-related genes in metastatic gastric cancer. - Source: PubMed
Publication date: 2026/08/31
Yoo JaeunKim Hyun MyongJeong KyoungyunYoo Yie-RiShin Ji-YeonLee SeunghoLee SeungbokLee Hye SeungPark Kyoung UnKong Seong-HoPark Do JoongLee Hyuk-JoonYang Han-Kwang - Thyroid carcinomas with mutations in the TSC2 gene have been described rarely. Here, we report a unique thyroid carcinoma that has somatic mutations in TSC2, follicular and melanocytic differentiation and distinct morphologic features, supported by a comprehensive molecular-genetic analyses. No other known pathogenic driver mutations were identified. The TSC2 mutations are predicted to be truncating and result in constitutive activation of mammalian target of rapamycin (mTOR) signaling that was confirmed by transcriptome expression profiling. This is the first demonstration of a thyroid follicular tumor with melanocytic differentiation and corresponding Melan-A expression may be a biomarker for this thyroid cancer. Its diffuse papillary architecture, macronuclei, multinuclear aggregates and intratumoral T lymphocytes are morphologic features not yet described in other TSC2-mutated thyroid carcinomas. Morphologic overlap with classic thyroid papillary carcinoma and known technical difficulties in sequencing the large TSC2 gene make it likely that TSC2-mutated thyroid carcinomas have been underdiagnosed so far. We suggest that TSC2-mutated thyroid carcinoma should be considered in the differential diagnosis of any thyroid tumor that has unusual morphologic and immunohistochemical features or lacks known driver mutations in thyroid cancer. - Source: PubMed
Publication date: 2026/09/02
Ausavarungnirun ChatchananUsama MuhammadNgov DanielBadami Ami UKarcioglu Amanda SKroll Todd G - Transplacental mammalian target of rapamycin (mTOR) inhibition has emerged as a promising therapeutic strategy for severe fetal cardiac rhabdomyomas in tuberous sclerosis complex (TSC). However, its impact on neonatal cardiovascular adaptation and long-term neurological outcomes remains poorly understood. - Source: PubMed
Publication date: 2026/09/01
Naito KanaMoriyama YoshinoriKawai YuriSaito KazuyoshiNakajima HazukiNakamura MasamitsuSekiya TakaoIshihara NaokoMiyata MasafumiYoshikawa TetsushiNishizawa Haruki - THOR (testis-associated highly conserved oncogenic long non-coding RNA) is a highly conserved and testis-enriched lncRNA across vertebrates that plays diverse roles in various cancers. However, its physiological function and regulatory mechanism in testes remain largely unknown. Here, we investigated the genomic location and expression pattern of THOR in the model organism zebrafish, and generated a homozygous THOR knockout model using CRISPR-Cas9 technology. Loss of THOR in zebrafish impaired spermatogenesis, leading to oligospermia (38.7% reduction in sperm count), reduced sperm motility, sperm ultrastructural defects, and decreased fertilization rates. RNA-seq analysis of WT and THOR knockout testes revealed dysregulation of cell cycle-related genes, including cdkn1d, foxo1a, tsc1a, tsc2, atrx, and rad21b. RNA pulldown assays in zebrafish testes identified 486 potential THOR-interacting proteins primarily involved in ribosome biogenesis, RNA splicing, chromatin architecture, and meiotic progression. Notably, the core synaptonemal complex components Sycp1, Sycp2, and Sycp3 were all captured as THOR-binding partners. We further demonstrated that THOR directly interacts with Sycp3 and positively regulates its protein levels. Immunostaining assays on chromosome spreads revealed a significantly higher frequency of discontinuous Sycp3 signals in THOR-/- testes, suggesting the presence of meiosis defects caused by Sycp3 downregulation. Our findings expand the understanding of lncRNA-mediated control of spermatogenesis and male infertility by providing the first evidence that lncRNA THOR interacts with the synaptonemal complex to regulate meiosis progression. - Source: PubMed
Publication date: 2026/08/31
Zhao JiayiJiang ChaolinLuo YiranLin XingBai YifanMeng KaifengZhao YuanliLiu FeiLuo Daji