Filling tube
- Known as:
- Filling tube
- Catalog number:
- 17400021
- Category:
- -
- Supplier:
- DragonLab
- Gene target:
- Filling tube
Related genes to: Filling 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: Filling tube
Related articles to: Filling tube
- Eosinophilic solid and cystic renal cell carcinoma (ESC-RCC) and TFEB-amplified renal cell carcinoma (TFEB-amplified RCC, a subset of TFEB-altered RCC) are rare eosinophilic renal cell tumours that can be difficult to distinguish on the basis of morphology and immunohistochemistry alone. In this study, we compared the clinicopathological and molecular features of these entities to identify distinguishing characteristics. - Source: PubMed
Publication date: 2026/08/13
Zullow HayleyTjota Melissa YKwon Jung WooAntic Tatjana - Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem genetic disorder caused by pathogenic variants in the or genes, resulting in dysregulation of the mTOR signaling pathway and subsequent hamartoma formation. Although the genetic basis of TSC is well established, population-specific data on and variants are still emerging. The aim of this study was to characterize the variant spectrum of the and genes in a cohort of 34 unrelated probands from Greece, 26 of whom had a definite TSC diagnosis, whereas eight had a possible TSC diagnosis. Targeted next-generation sequencing (NGS) was performed to analyze all coding exons and flanking exon-intron boundaries of and . Identified variants were subsequently validated by Sanger sequencing. Pathogenic or likely pathogenic variants were identified in 22 of 34 probands, corresponding to an overall diagnostic yield of 65% using the testing strategy applied in this study. Of these variants, 32% (7/22) occurred in and 68% (15/22) in ; seven variants (7/22; 32%) were previously unreported. The molecular detection rate was 77% (20/26) for patients meeting the criteria for definite clinical TSC diagnosis and 25% (2/8) for those with a possible TSC diagnosis. Exploratory genotype-phenotype analysis revealed a trend toward a more severe clinical presentation among patients harboring variants. These findings expand the known molecular landscape of TSC and support the clinical utility of genetic testing for diagnosis, genetic counseling, and patient management. - Source: PubMed
Publication date: 2026/08/10
Avgeris Socratis NFostira FlorentiaApostolou ParaskeviDelimitsou AngelikiSmyrniotis StefanosYannoukakos DrakoulisStravopodis Dimitrios JSyntichaki PopiVoutsinas Gerassimos E - The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125). Data on mutation status, cortical tuber burden (magnetic resonance imaging/computed tomography), seizure history, and cognitive ability were collected. Approximately 10 years later, follow-up assessments of autism, cognitive ability, and epilepsy were completed (n = 86). Almost 40% of participants met diagnostic criteria for autism, with an additional 42% showing elevated autistic traits. Structural equation modeling identified two indirect pathways linking TSC1/TSC2 mutation with the autism factor score: one via higher cortical tuber burden and infantile spasms and one via spasms alone. Concurrent seizure severity and lower intelligence quotient scores were also associated with higher autism factor scores. These findings provide preliminary longitudinal evidence supporting developmental associations between genetic vulnerability, cortical pathology, and early severe epilepsy with later autism. This highlights the importance of further investigation of early epileptic activity and associated neurodevelopmental outcomes in TSC and may inform understanding of epilepsy-related pathways associated with autism. - Source: PubMed
Publication date: 2026/08/10
McEwen Fiona SRunicles Abigail KLiang HolanWoodhouse EmmaUnderwood LisaShephard ElizabethBarker Edward DSheerin FintanSteenbruggen Juul W Yates John R WTye CharlotteBolton Patrick F - - Source: PubMed
Publication date: 2025/07/10
D'souza TabithaDavids LauraPatil Prabhumallikarjun - Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre-existing seizures prior to age 4 months, suggesting that neonatal or early infantile seizures may be a common occurrence. - Source: PubMed
Publication date: 2026/03/09
Jülich KristinaArredondo Kristen