Clinispin horizon 642E 10 ml red tube carrier
- Known as:
- Clinispin horizon 642E 10 milliliter red tube carrier
- Catalog number:
- WD4005
- Product Quantity:
- Each
- Category:
- -
- Supplier:
- Woodle
- Gene target:
- Clinispin horizon 642E 10 red tube carrier
Related genes to: Clinispin horizon 642E 10 ml red tube carrier
- 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: Clinispin horizon 642E 10 ml red tube carrier
Related articles to: Clinispin horizon 642E 10 ml red tube carrier
- Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2, leading to mTOR pathway dysregulation and a spectrum of systemic and neurological manifestations. Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder frequently associated with early-onset, drug-resistant epilepsy, intellectual disability, and autism spectrum disorder-collectively known as TSC-associated developmental and epileptic encephalopathy (DEE). Advances in prenatal diagnostics and biomarker research now enable presymptomatic identification of high-risk infants. This review aims to synthesize current evidence on biomarker-informed, mechanism-based strategies for secondary prevention of DEE in TSC, offering a framework for personalized early interventions. Biomarkers, such as interictal epileptiform discharges, pathogenic TSC2 variants, and advanced neuroimaging metrics, predict epilepsy risk and neurodevelopmental trajectories. Preventive approaches include early initiation of vigabatrin and mTOR inhibitors, which show potential in reducing epilepsy severity and improving outcomes. Emerging strategies, including gene therapy, multi-omic profiling, and environmental enrichment, offer promise for disease modification. By linking predictive biomarkers to disease-modifying strategies, this review outlines a proactive and personalised approach to prevent or mitigate TSC-associated DEE. These insights help advance clinical decision-making and promote a shift toward precision prevention in paediatric epilepsy. - Source: PubMed
Publication date: 2025/05/13
Specchio NicolaDi Micco ValentinaScheper MirteAronica EleonoraCuratolo Paolo - Paediatric cardiac tumours are rare. The most common tumour is a rhabdomyoma, a benign tumour of the myocardium associated with Tuberous Sclerosis Complex (TSC), a rare genetic condition caused by constitutional pathogenic variants in either the TSC1 or TSC2 genes. Although benign, complications related to obstructed flow through the heart or intractable arrhythmias occur. A 23-year retrospective study of patients referred to the National Scottish Paediatric Cardiology service with evidence of a cardiac tumour. 51 patients identified; 12 prenatally, 8 live born. Of the 47 patients born alive, 44 (93.6%) patients had a benign cardiac tumour and 3 (6.4%) a malignant tumour. Rhabdomyomas were shown to be the most common tumour type in patients with TSC (p = 0.000861) and overall. 8/44 (18%) benign tumours had a documented arrhythmia, 50% requiring treatment with beta blockade. 7 patients with rhabdomyomas received an mTOR inhibitor, 6 were recorded as TSC 2 genotype. There was significant extra cardiac symptom burden for the TSC subtypes (p = 0.00105), particularly TSC2, related to renal and neurological complications. The natural history of rhabdomyomas is slow regression and if no significant mass or rhythm disturbances in early childhood, a positive cardiovascular prognosis. Identifying cases associated with TSC is important to counsel families regarding the longer-term implications related to morbidity and mortality particularly in TSC2 associated cases, which typically have a more severe phenotype. Targeted medical therapy is indicated and shown to be effective for the treatment of benign cardiac tumours causing significant rhythm or mass effect. mTOR inhibitors should be considered in the treatment of rhabdomyomas and beta blockade for haemangiomas. - Source: PubMed
Publication date: 2025/05/14
Craig KPatel JMurphy DPatterson JHunter L E - : Tuberous sclerosis complex (TSC) is a rare multisystemic genetic disorder characterized by the formation of benign tumors in various organs, including the central nervous system, skin, kidneys, and heart. The diagnosis is based on well-defined clinical criteria, such as those from Schwartz (2007) updated in 2012 by the International Tuberous Sclerosis Complex Consensus Group. The study aims to investigate the clinical, imaging, and molecular characteristics of patients diagnosed with tuberous sclerosis and to explore the correlation between specific genetic mutations ( and genes) and the severity of clinical manifestations. : This is a retrospective longitudinal study of 13 patients diagnosed with tuberous sclerosis, identified in the records of the Bihor Regional Center for Medical Genetics (BRCMG) within the Bihor County Emergency Clinical Hospital from 1984 to 2024. Clinical, imaging, and molecular features were assessed. Patients were evaluated by a multidisciplinary team, including a geneticist, pediatrician, neurologist, psychiatrist, and psychologist. Clinical and imaging data were retrospectively collected from the congenital malformations and genetic disease records of BRCMG Bihor and statistically analyzed. : All patients showed clinical and imaging signs consistent with the diagnosis of tuberous sclerosis. Neurological manifestations were present in 83% of patients, including epilepsy and cognitive delays. Renal lesions were detected in 46% of cases, and dermatological lesions, such as facial angiofibromas, were observed in 69% of patients. Mutational variants identified in the gene correlated with a more severe clinical presentation, including severe intellectual disability and treatment-resistant seizures, compared to variants in the gene. : Our study, although involving a small number of patients, highlights the clinical heterogeneity of tuberous sclerosis and the importance of a multidisciplinary approach in patient management. Early diagnosis and ongoing monitoring are essential to improving the quality of life for patients. Further studies are needed to assess the impact of therapeutic interventions and genetic correlations within the studied population. - Source: PubMed
Publication date: 2025/04/25
Jurca Aurora AlexandraHodisan RamonaJurca Alexandru DanielSeverin EmiliaJurca SanzianaTrandafir AnaIlias TiberiaVesa CosminJurca Claudia Maria - Lymphangioleiomyomatosis (LAM) is a rare, progressive lung disease driven by mutations in the TSC1 or TSC2 genes, leading to constitutive mTORC1 activation and uncontrolled cell proliferation. Current therapies, like rapamycin effectively stabilize disease progression but mainly exert cytostatic effects and promote autophagy, a survival mechanism in LAM cells. These limitations highlight the need for the development of innovative therapies to achieve more effective and lasting results. To explore alternative therapeutic targets, we investigated the role of nicotinamide phosphoribosyltransferase (NAMPT), a key regulator of NAD biosynthesis, in LAM and TSC2-deficient cells using a potent inhibitor, FK866. Our study demonstrates that FK866 depletes NAD levels in these cells, exerting a dual effect by activating AMPK and subsequently inhibiting mTORC1 signaling while suppressing autophagy. Unlike rapamycin, FK866 does not induce compensatory Akt activation, significantly inhibits LAM cell proliferation and induces apoptosis. Additionally, using an in vivo chicken egg chorioallantoic membrane (CAM) model, we showed that FK866 treatment significantly reduces LAM tumor growth compared to controls suggesting that NAMPT inhibition disrupts metabolic and survival pathways critical for TSC2-deficient cell viability and tumor progression. Our results establish NAMPT as a promising therapeutic target for LAM, offering a two-prong strategy to suppress tumor growth and enhance apoptosis, providing an alternative to current mTOR-based therapies. - Source: PubMed
Publication date: 2025/05/08
Fard Shahrzad SKundu NandiniTorres Alek SFaltas Christina LDi Martino Julie SHolz Marina K - This study explores ocular manifestations in children with mutations in key tumor suppressor genes (RB1, NF1, NF2, VHL, TSC1/2), which are linked to common pediatric hereditary cancer syndromes. Mutations in these genes often lead to ocular lesions, particularly in the retina and uveal tract, including the choroid and iris. The expression of these tumor suppressor gene mutations in the eye has been a topic of interest for ophthalmologists and other healthcare professionals. We have summarized the ocular presentations of these common tumor suppressor gene mutations in pediatric patients. - Source: PubMed
Publication date: 2025/05/10
Wang AoxiangWang ChanyuanLi WenQiao JingLuo YulinTian Yu