Cryo tube 2.0ml cryo tube
(With screw cup)
- Known as:
- Cryo tube 2.0ml cryo tube
(With screw cup)
- Catalog number:
- ZD1038
- Product Quantity:
-
5000pc/carton
- Category:
- -
- Supplier:
- Zenplastic
- Gene target:
- Cryo tube 2.0ml cryo
(With screw cup)
Related genes to: Cryo tube 2.0ml cryo tube
(With screw cup)
- 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: Cryo tube 2.0ml cryo tube
(With screw cup)
Related articles to: Cryo tube 2.0ml cryo tube
(With screw cup)
- Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The "no mutations identified" (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by standard sequencing methods. - Source: PubMed
Chung Clara W TBournazos Adam MChan Lok Chi DeniseSarkozy VanessaLawson JohnKennedy Sean ECooper Sandra TKirk Edwin PMowat David - Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 encoding the tuberin and hamartin proteins, respectively. Both TSC1 and TSC2 inhibit the mammalian target of rapamycin (mTOR) complexes pathway, which is crucial for cell proliferation, growth, and differentiation, and is stimulated by various energy sources and hormonal signaling pathways. Pathogenic variants in TSC1 and TSC2 lead to mTORC1 hyperactivation, producing benign tumours in multiple organs, including the brain and kidneys, and drug-resistant epilepsy, a typical sign of TSC. Brain tumours, sudden unexpected death from epilepsy, and respiratory conditions are the three leading causes of morbidity and mortality. Even though several therapeutic options are available for the treatment of TSC, there is further need for a better understanding of the pathophysiological basis of the neurologic and other manifestations seen in TSC, and for novel therapeutic approaches. This review provides an overview of the main current therapies for TSC and discusses recent studies highlighting the repurposing of approved drugs and the emerging role of novel targets for future drug design. - Source: PubMed
Publication date: 2024/09/21
Conte ElenaBoccanegra BrigidaDinoi GiorgiaPusch MichaelDe Luca AnnamariaLiantonio AntonellaImbrici Paola - Patients with tuberous sclerosis complex (TSC) develop renal cysts and/or angiomyolipomas (AMLs) due to inactive mutations of either TSC1 or TSC2 and consequential mTOR hyperactivation. The molecular events between activated mTOR and renal cysts/AMLs are still largely unknown. - Source: PubMed
Publication date: 2024/09/27
Zhao ShuyunHao ShuaiZhou JiashengChen XinranZhang TianhuaQi ZhaolaiZhang TingJalal SajidZhai ChuanxinYin LuBo YufeiTeng HongmingWang YueGao DongyanZhang HongbingHuang Lin - Activated mTORC2/AKT signaling plays a role in hepatocellular carcinoma (HCC). Research has shown that TSC/mTORC1 and FOXO1 are distinct downstream effectors of AKT signaling in liver regeneration and metabolism. However, the mechanisms by which these pathways mediate mTORC2/AKT activation in HCC are not yet fully understood. Amplification and activation of c-MYC is a key molecular event in HCC. In this study, we explored the roles of TSC/mTORC1 and FOXO1 as downstream effectors of mTORC2/AKT1 in c-MYC-induced hepatocarcinogenesis. Using various genetic approaches in mice, we found that manipulating the FOXO pathway had minimal impact on c-MYC-induced HCC. In contrast, loss of mTORC2 inhibited c-MYC-induced HCC, an effect that was completely reversed by ablating TSC2, which activated mTORC1. Additionally, we discovered that p70/RPS6 and 4EBP1/eIF4E act downstream of mTORC1, regulating distinct molecular pathways. Notably, the 4EBP1/eIF4E cascade is crucial for cell proliferation and glycolysis in c-MYC-induced HCC. We also identified centromere protein M (CENPM) as a downstream target of the TSC2/mTORC1 pathway in c-MYC-driven hepatocarcinogenesis, and its ablation entirely inhibited c-MYC-dependent HCC formation. Our findings demonstrate that the TSC/mTORC1/CENPM pathway, rather than the FOXO cascade, is the primary signaling pathway regulating c-MYC-driven hepatocarcinogenesis. Targeting CENPM holds therapeutic potential for treating c-MYC-driven HCC. - Source: PubMed
Publication date: 2024/09/26
Zhou YiZhang ShuQiu GuotengWang XueYonemura AndrewXu HongweiCui GuofeiDeng ShanshanChun JoanneChen NianyongXu MengSong XinhuaWang JingwenXu ZijingDeng YoupingEvert MatthiasCalvisi Diego FLin ShumeiWang HaichuanChen Xin - TSC2/PKD1 contiguous gene syndrome is caused by deletions involving the TSC2 and PKD1 genes that lead to tuberous sclerosis complex and autosomal dominant polycystic kidney disease. It is characterized by early-onset severe cystic kidney disease with progressive enlargement of the kidneys and the cysts. As it can lead to early hypertension and an accelerated decline of kidney function, early genetic testing is needed for early diagnosis of this syndrome, and more frequent imaging-based examinations are necessary to assess disease progression and determine appropriate management. We report the case of an infant girl with TSC2/PKD1 contiguous gene syndrome who presented with epileptic seizures. Brain magnetic resonance imaging (MRI) revealed subependymal nodules and cortical tubers, and abdominal MRI revealed polycystic kidney lesions and enlargement of both kidneys. TSC2/PKD1 contiguous gene syndrome was suspected from her radiological features, and we confirmed the presence of a deletion in the girl's genome, which included the TSC2 and PKD1 genes, via microarray analysis. Thereafter, we evaluated the change in kidney size via repeated abdominal MRI. The polycystic kidney lesions enlarged, and the patient developed hypertension in early childhood, for which we administered an angiotensin-converting enzyme inhibitor. We emphasize the importance of evaluation with longitudinal abdominal imaging because renal cysts tend to enlarge rapidly and induce hypertension, as demonstrated in our case. - Source: PubMed
Publication date: 2024/08/26
Hashimoto KazuhikoHayashida TakuyaOtsubo YoshikazuNiida YoDateki Sumito