TSC1 pAb
- Known as:
- TSC1 pAb
- Catalog number:
- ASA905713100
- Product Quantity:
- 100 µg
- Category:
- -
- Supplier:
- Other suppliers
- Gene target:
- TSC1 pAb
Related genes to: TSC1 pAb
- Gene:
- TSC1 NIH gene
- Name:
- TSC complex subunit 1
- Previous symbol:
- TSC
- Synonyms:
- KIAA0243, LAM, hamartin
- Chromosome:
- 9q34
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: TSC1 pAb
Related articles to: TSC1 pAb
- Significant differences exist in the patterns and timing of organ involvement in Tuberous sclerosis complex (TSC). We sought to analyze potential differences in multiorgan involvement between TSC1 and TSC2 genotypes based on imaging findings, thereby elucidating the disease expression profile of TSC. - Source: PubMed
Publication date: 2026/06/19
Tan YanGuo ChengwenLiu JingzheFu ManliWang YiYuan Li - Tuberous sclerosis complex (TSC) is a hereditary disease caused by pathogenic mutations in the TSC1 or TSC2 genes, leading to overactivation of mTOR signaling and dysregulation of downstream pathways. The majority of individuals with TSC develop psychiatric and neurodevelopmental comorbidities-including intellectual disability, autism spectrum disorders, anxiety and other behavioral manifestations-collectively termed TSC-associated neuropsychiatric disorders. Over the past decade, increasing evidence from clinical and preclinical studies has highlighted a significant myelination deficit in the brains of TSC patients and animal models. Although mTOR inhibition can alleviate myelination defects and improve cognition in rodent models, clinical studies using the mTOR inhibitor, everolimus, has limited cognitive benefits in TSC individuals. Adenosine signaling has been recognized as a key player in oligodendrocyte maturation and myelin formation and may represent a promising target for therapeutic intervention. - Source: PubMed
Publication date: 2026/06/17
Hsieh Christine Chin-JungTsou Yi-SyueHuang Nai-KueiChen Ting-ChiehLi Ssu-JuChang Ching-WenLin Wei-XuanTung Szu-YuChern YijuangChen You-YinLee Yi-Chao - Tuberous sclerosis complex (TSC) is a rare genetic neurocutaneous disorder resulting from mutations in the TSC1 or TSC2 genes, characterized by overgrowth and lesions in multiple organs. While renal angiomyolipomas are commonly seen, lipomas located elsewhere are rarely reported in these patients. - Source: PubMed
Publication date: 2026/06/12
Friedrich Julika EHentschel JuliaRichter SandyKiep HenrietteArélin MariaPlatzer KonradSchulz TorstenMerkenschlager AndreasKiess WielandMayer SteffiJamra Rami AbouDuc Diana LeGarten AntjeKirstein Anna S - Pancreatic cancer (PC) is one of the most lethal malignancies, with an approximately 5% 5-year survival rate. Understanding the intricate network of interactions among the proteins of key pathways is critical for assessing the PC prognosis. Herein, we have carried out a systematic approach by collecting mutational data of genes involved in 10 PC studies with 6,325 PC samples from cBioPortal. A total of 15,088 genes were obtained, to which a mutational frequency cut-off of > 10 was applied. The 1,617 genes acquired after this filtration. These genes were stratified into five PC tiers (PC-TierII to PC-TierV), with PC-TierI comprising six frequently mutated genes icluding KRAS (73.40%), TP53 (51.20%), SMAD4 (18.70%), TTN (14.20%), CDKN2A (12.40%), MUC16 (6.70%) and PC-TierII including ARID1A (5.60%), RNF43 (5.20%), FLG (5.00%). These genes were then used for pathway enrichment analysis using the EnrichR suite, followed by co-expression interaction analysis via GeneMANIA. ACVR1B, KRAS, RBBP8, SMAD4, STK11, and TP53 were predicted to be associated with the PC (OMIM ID: 260350). PC has lower KRAS mutation counts closely related to ovarian and uterus cancers and top KRAS mutations are KRAS, KRAS, KRAS, KRAS and KRAS. We highlighted the interaction between the PC genes identified in this study in various pathways associated with PC such as RTK-RAS, WNT/β-Catenin, NOTCH, Hedgehog, TGF-β, along with protein interactions encoded by PC-related genes. Additionally, cross-library EnrichR pathway overlap analysis revealed highly interconnected extracellular matrix/integrin and neuronal signaling modules driven by recurrent collagen, laminin, ion-channel, and axon-guidance genes across multiple PC pathways. This PC gene list was compared with four PC gene panels. Invitae and Fulgent offer the broadest gene coverage (20/21), with 16 genes universally covered by all four providers, while GeneD and Prevention Genetics lag at 17 genes each, with critical gaps in rare cancer predisposition genes like TSC1, TSC2, and NF1. Overall, these findings refine the molecular landscape of PC and highlight key genes and pathways with potential clinical relevance. - Source: PubMed
Publication date: 2026/06/12
Manjunath Gowrang KasabaKanchi Lasya PriyaDakal Tikam ChandBeura AbhijitKumar Abhishek - Tuberous sclerosis complex (TSC) is a multisystem disease caused by pathogenic variants in TSC1 or TSC2 genes. Although features of TSC have been described in various populations, genetic data from Egypt remain scarce. This study aimed to characterize the phenotypic and molecular features of TSC among a cohort of Egyptian patients. - Source: PubMed
Publication date: 2026/06/10
Othman Amr ASadek Abdelrahim AAladawy Mohammed AAziz Shereen PhilipSedky AhmedMansour Tarek M MYounis Mohammed M SAbdelatif Rania GHassan Abd El-Monem MAboelmagd Marwa AliMohamed MarwaMohamed Kawashty RElkousy Salma MohamedMontaser Elkady Nada MKhang RinRyu Seung WooAbdelkreem Elsayed