Tsc2 (Phospho_Ser1254) Antibody
- Known as:
- Tsc2 (Phospho_Ser1254) Antibody
- Catalog number:
- E012048-2
- Product Quantity:
- 100ug
- Category:
- Antibodies
- Supplier:
- EnoGene
- Gene target:
- Tsc2 (Phospho_Ser1254) Antibody
Related genes to: Tsc2 (Phospho_Ser1254) Antibody
- 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: Tsc2 (Phospho_Ser1254) Antibody
Related articles to: Tsc2 (Phospho_Ser1254) Antibody
- Thyroid carcinomas with mutations in the TSC2 gene have been described rarely. Here, we report a unique thyroid carcinoma that has somatic mutations in TSC2, follicular and melanocytic differentiation and distinct morphologic features, supported by a comprehensive molecular-genetic analyses. No other known pathogenic driver mutations were identified. The TSC2 mutations are predicted to be truncating and result in constitutive activation of mammalian target of rapamycin (mTOR) signaling that was confirmed by transcriptome expression profiling. This is the first demonstration of a thyroid follicular tumor with melanocytic differentiation and corresponding Melan-A expression may be a biomarker for this thyroid cancer. Its diffuse papillary architecture, macronuclei, multinuclear aggregates and intratumoral T lymphocytes are morphologic features not yet described in other TSC2-mutated thyroid carcinomas. Morphologic overlap with classic thyroid papillary carcinoma and known technical difficulties in sequencing the large TSC2 gene make it likely that TSC2-mutated thyroid carcinomas have been underdiagnosed so far. We suggest that TSC2-mutated thyroid carcinoma should be considered in the differential diagnosis of any thyroid tumor that has unusual morphologic and immunohistochemical features or lacks known driver mutations in thyroid cancer. - Source: PubMed
Publication date: 2026/09/02
Ausavarungnirun ChatchananUsama MuhammadNgov DanielBadami Ami UKarcioglu Amanda SKroll Todd G - Transplacental mammalian target of rapamycin (mTOR) inhibition has emerged as a promising therapeutic strategy for severe fetal cardiac rhabdomyomas in tuberous sclerosis complex (TSC). However, its impact on neonatal cardiovascular adaptation and long-term neurological outcomes remains poorly understood. - Source: PubMed
Publication date: 2026/09/01
Naito KanaMoriyama YoshinoriKawai YuriSaito KazuyoshiNakajima HazukiNakamura MasamitsuSekiya TakaoIshihara NaokoMiyata MasafumiYoshikawa TetsushiNishizawa Haruki - THOR (testis-associated highly conserved oncogenic long non-coding RNA) is a highly conserved and testis-enriched lncRNA across vertebrates that plays diverse roles in various cancers. However, its physiological function and regulatory mechanism in testes remain largely unknown. Here, we investigated the genomic location and expression pattern of THOR in the model organism zebrafish, and generated a homozygous THOR knockout model using CRISPR-Cas9 technology. Loss of THOR in zebrafish impaired spermatogenesis, leading to oligospermia (38.7% reduction in sperm count), reduced sperm motility, sperm ultrastructural defects, and decreased fertilization rates. RNA-seq analysis of WT and THOR knockout testes revealed dysregulation of cell cycle-related genes, including cdkn1d, foxo1a, tsc1a, tsc2, atrx, and rad21b. RNA pulldown assays in zebrafish testes identified 486 potential THOR-interacting proteins primarily involved in ribosome biogenesis, RNA splicing, chromatin architecture, and meiotic progression. Notably, the core synaptonemal complex components Sycp1, Sycp2, and Sycp3 were all captured as THOR-binding partners. We further demonstrated that THOR directly interacts with Sycp3 and positively regulates its protein levels. Immunostaining assays on chromosome spreads revealed a significantly higher frequency of discontinuous Sycp3 signals in THOR-/- testes, suggesting the presence of meiosis defects caused by Sycp3 downregulation. Our findings expand the understanding of lncRNA-mediated control of spermatogenesis and male infertility by providing the first evidence that lncRNA THOR interacts with the synaptonemal complex to regulate meiosis progression. - Source: PubMed
Publication date: 2026/08/31
Zhao JiayiJiang ChaolinLuo YiranLin XingBai YifanMeng KaifengZhao YuanliLiu FeiLuo Daji - Drug-resistant epilepsy (DRE) in children is linked to poor developmental outcomes and increased mortality. Genetic factors are increasingly recognized in its pathogenesis, and whole- exome sequencing (WES) offers a promising diagnostic tool for early intervention, especially in cases with unclear etiology. However, data on the genetic causes of pediatric DRE remain scarce in Indonesia, a low-resource setting with limited access to advanced genetic testing. We conducted a retrospective review at the Neuropediatric Clinic of Sardjito Hospital, Yogyakarta, Indonesia, from January to December 2024. Children aged 0-18 years at the time of epilepsy diagnosis or genetic testing were included. WES was performed for all patients, and in cases with positive findings, Sanger sequencing was used to confirm variants in parents and siblings. WES identified pathogenic or likely pathogenic variants in 3 of 10 patients, with one patient harboring three variants. In total, three pathogenic or likely pathogenic variants were identified in TSC2, CC2D2A, and WDFY3, and two variants of uncertain significance were identified in CC2D2A and ATP6V1A. Among the five variants, two were missense mutations, two were nonsense mutations, and one was a frameshift mutation. WES can yield a definitive genetic diagnosis in a subset of patients, enabling individualized management, facilitating genetic counseling, and reducing the need for further diagnostic investigations. - Source: PubMed
Publication date: 2026/08/31
Herini Elisabeth SitiTriono AgungIskandar KristyNugrahanto Andika PriamasDamroni Rais AliffandyMooiindie Khansadhia HasmaradanaTimoti Joshua - MITF-rearranged PEComas are rare, and their relationship to MITF-altered melanocytic tumors remains incompletely characterized. We report a malignant superficial soft tissue neoplasm of the thigh in a 45-year-old woman harboring a novel EEF1A1::MITF fusion. The tumor was composed of epithelioid to plump spindle cells arranged in sheets, nests, and short fascicles with prominent capillary vasculature. Significant cytologic atypia, brisk mitotic activity, and necrosis were present. The tumor cells showed diffuse strong nuclear MITF and diffuse GPNMB expression, with patchy SMA, scattered desmin, and multifocal cathepsin K positivity, while S100, SOX10, HMB45, Melan A, PRAME, tyrosinase, pancytokeratin, CD34, and TFE3 were negative. Although atypical for classic PEComa, this immunophenotype resembles that described in MITF-overexpressing PEComas. Molecular studies identified an ATRX frameshift mutation, homozygous CDKN2A/CDKN2B deletion, complex copy number alterations, and an in-frame EEF1A1::MITF fusion. No canonical TSC1, TSC2, or FLCN alteration was identified. These findings expand the molecular spectrum of PEComa and support the emerging concept that a subset of cutaneous PEComas may be driven by MITF rearrangements. - Source: PubMed
Raney SierraKarunamurthy ArivarasanHo JonhanBubar RobertMohebnasab MaedehSkaugen JohnElmoryah MohamedNacev BenjaminMcGough RichardJohn Ivy