Centrifuge tube 1.5ml (without lid)
- Known as:
- Centrifuge tube 1.5ml (without lid)
- Catalog number:
- ZD1017
- Product Quantity:
- 11000pc/carton
- Category:
- -
- Supplier:
- Zenplastic
- Gene target:
- Centrifuge tube 1.5ml (without lid)
Related genes to: Centrifuge tube 1.5ml (without 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 (without lid)
Related articles to: Centrifuge tube 1.5ml (without lid)
- 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 - Pathogenetic alterations of tumor suppressor genes TSC1 and TSC2 are responsible for the development of tuberous sclerosis complex (TSC) and various sporadic diseases, including sporadic lymphangioleiomyomatosis (LAM). TSC can be inherited and non-inherited and is characterized by indolent tumor formation in multiple organs. The most important pulmonary manifestation of TSC is LAM. It affects the majority of female and a small subset of male patients, heavily impacting their quality of life and survival. It is a cystic lung disease, which is now considered a PEComa-type neoplasm. In addition to the TSC-associated form (TSC-LAM), LAM can also occur sporadically (S-LAM), almost exclusively in women. Both forms present with proliferation of immature smooth muscle cells, resulting in cystic destruction of the pulmonary parenchyma and emergence of respiratory symptoms, including dyspnea and pneumothorax. Currently, sirolimus is the only FDA-approved treatment option for LAM patients; however, a subgroup of patients either do not respond or tolerate therapy. Recently published data has shed light on the heterogeneity of LAM and the importance of the tumor microenvironment, which may serve as new aspects for future research. Other TSC gene-associated lesions of the lung include multifocal micronodular pneumocyte hyperplasia (MMPH) and non-LAM PEComa (clear cell sugar tumor). While MMPH may not be progressive or require clinical treatment, it might require differentiation from atypical adenomatous hyperplasia or lepidic adenocarcinoma of the lung. - Source: PubMed
Publication date: 2026/05/27
Szalai FatimeKrencz IldikoBurger Charles DKornafeld AnnaKhoor Andras - mTORC1 activity is oncogenic. However, in the presence of chemotherapy, suppression of mTORC1 is cytoprotective. mTOR suppression requires an intact tuberous sclerosis complex (TSC), composed of TSC1, TSC2 and TBC1D7. Small molecules that activate mTOR by blocking the TSC are lacking. - Source: PubMed
Publication date: 2026/05/27
Pattanayak Shakti PDarawshi OdaiHajihassani OmidWinter Jordan MWeiler NicoleOtt MelanieRothweiler FlorianCinatl JindrichMichaelis MartinLindner Daniel JGreen Thomas DKrassovskaia PolinaAruleba Raphael TFisher-Wellman Kelsey HMears Jason AWald DavidEriksson Leif ATirosh Boaz - Methylmercury (MeHg) is a potent environmental contaminant primarily ingested through seafood consumption. Gestational exposure induces profound neurological and developmental deficits in the fetus that often persist throughout childhood. This developmental vulnerability arises from the immature state of the blood-brain barrier and a limited endogenous antioxidant capacity in the developing CNS. Postnatal exposure via breastfeeding further compromises neurodevelopment, specifically impairing visuospatial processing and memory. While fetal and placental mercury accumulation correlates with gestational age, the specific mechanisms of transplacental transport remain poorly defined. Mechanistically, MeHg predominantly accumulates in fetal renal tissue, followed by the brain and liver. This review aims to elucidate MeHg-induced oxidative stress and autophagic collapse mediated by the PI3K/AKT/mTOR and AMPK/TSC2/mTOR pathways. Furthermore, we evaluate neuroprotective candidates, specifically N-acetyl-L-cysteine (NAC) and CCL chemokine modulation, as strategies to mitigate fetal impairment and the associated cellular damage. - Source: PubMed
Publication date: 2026/05/21
Simões Júlia Leão BatistaBraga Geórgia de CarvalhoAssmann Charles EliasBagatini Margarete Dulce - Sirolimus is increasingly used for symptomatic or large cardiac rhabdomyoma, but the risk of recurrence remain unclear. We evaluated clinical response, tumour regression, recurrence, and safety in infants treated with sirolimus. - Source: PubMed
Publication date: 2026/05/26
Handa AnkurKrishnaswamy SwaminathanFaisal Nabeel ValappilKadiyani LamkRamakrishnan SivasubramanianJagia PriyaGupta Saurabh Kumar