Collection tube bulk
- Known as:
- Collection tube bulk
- Catalog number:
- 17000CB
- Product Quantity:
- 1000ea
- Category:
- -
- Supplier:
- Intron
- Gene target:
- Collection tube bulk
Related genes to: Collection tube bulk
- 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: Collection tube bulk
Related articles to: Collection tube bulk
- Cardiac rhabdomyomas (CRs) are one of the typical phenotypes of tuberous sclerosis complex (TSC) diseases. Patients with CR could present various phenotypes and different severities. and are candidate genes for TSC. The genotype and phenotype relationship of the CR phenotype in TSC is unknown. - Source: PubMed
Publication date: 2026/07/01
Chen XiangYao RuenSheng WangtaoLi JiaqiChen YiweiFu LijunBei Fei - Background Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder caused by pathogenic variants in TSC1 or TSC2. Despite established clinical diagnostic criteria, a subset of patients remains molecularly unsolved after conventional genetic screening, often due to deep intronic variants, structural anomalies, or low-level somatic mosaicism. Methods A retrospective cohort study was performed. Patients without an identified pathogenic variant after conventional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) were selected for targeted high-depth next-generation sequencing (NGS), achieving a median sequencing depth of at least 800×. Clinical data were collected for phenotypic characterization. Results High-depth targeted sequencing identified pathogenic or likely pathogenic variants in the TSC2 gene in four out of seven previously unresolved patients, resulting in an incremental diagnostic yield of 57.1% (4/7). The identified variants were deep intronic structural alterations or splice-modifying changes (c.2838-122G>A, c.848+281C>T, and c.2640-16_2640-8del). Two unrelated patients carried the identical c.848+281C>T deep intronic variant. Patients with identified TSC2 variants exhibited a high prevalence of structural central nervous system anomalies, epilepsy, and multi-system tumor involvement compared to the molecularly unconfirmed subgroup. Discussion High-depth targeted sequencing using hybrid-capture enrichment provides a substantial diagnostic advantage for detecting deep intronic variants in previously unsolved TSC cases. These findings advocate for integrating deep sequencing into clinical practice. Although TSC remains mainly a clinical diagnosis, identifying pathogenic variants has an important role in diagnosing patients who do not meet complete clinical criteria, in providing genetic counseling, as well as access to potential targeted therapies. - Source: PubMed
Publication date: 2026/06/02
Neto Joana AFonseca JacintaMelo CláudiaSousa RaquelCarvalho MartaRocha Diogo FParente Freixo JoãoLeão MiguelGrangeia AnaSampaio Mafalda - Primary resistant disease (PRD) to immuno-oncology plus vascular endothelial growth factor receptor inhibitor (IOVE) therapy is a critical unmet need in metastatic renal cell carcinoma (mRCC), yet its clinical and molecular features remain poorly defined. We provide the first integrated clinical and genomic characterization of PRD, combining two complementary, non-overlapping cohorts: a real-world clinical cohort of 159 patients (Hiroshima Cancer Registry Project, H-CARP) and a national genomic database (Center for Cancer Genomics and Advanced Therapeutics, C-CAT). PRD (n = 20 [12.6%]) defined a distinct high-risk group with markedly shorter progression-free survival, PFS2, and overall survival (OS) and a median OS of 8.5 months. Notably, liver metastasis was a strong, readily available independent predictor of PRD (odds ratio 4.99; p = 0.011), enabling early risk stratification, and non-clear cell histology was enriched among PRD. The comparable OS with or without subsequent therapy underscores an urgent need for novel strategies. Exploratory genomic profiling revealed candidate, hypothesis-generating correlates of resistance (lower VHL and PBRM1; higher TSC2 and MSH3 alterations). By linking real-world outcomes with national genomic data, this study establishes a foundation for early identification and biomarker-guided management of PRD. - Source: PubMed
Publication date: 2026/06/30
Kobatake KoheiGoto KeisukeSekino YoheiYukihiro KazumaNaito MikiTakemoto KenshiroMiyamoto ShunsukeKitano HiroyukiGoriki AkihiroHieda KeisukeHinata Nobuyuki - Lymphangioleiomyomatosis (LAM) is a rare, low-grade neoplasm that causes progressive cystic lung destruction and is often associated with renal angiomyolipomas (AMLs). Given evidence of pleiotropy linking LAM risk to pulmonary traits, we investigated whether glucocorticoid receptor (GR) signalling might influence LAM biology and clinical features. - Source: PubMed
Publication date: 2026/06/29
Baiges AlexandraRuiz-Auladell LaraGarcía IreneRigo-Bonnin RaúlTang YanBou-Farhat Elias JEspín RodericSanz Rosario TVicent Guillermo PabloDonate-Castillo MercèShabbir ArzooAdams-Furmanski JonathanHerranz-Ors CarmenLaporta RosalíaSalas ClaraUssetti PiedadValenzuela ClaudiaAncochea JulioRodríguez-Portal José AMolina-Molina MaríaCasanova ÁlvaroRevilla-López EvaGómez-Carrera LuisMatias-Guiu XavierPavón Miguel AngelJung DominikBachmann Hagen SLago-Lestón Ramón ManuelMuinelo-Romay LauraFarré Xavierde Cid RafaelLeung Calvin SZannas Anthony SEsteller ManelSellares JacoboBłasińska KatarzynaRóży AdrianaSkrońska PaulinaGómez AntonioHolz Marina KDi Martino Julie SMonk DavidSefton CharlotteWalker LeanneWhite AnneClements DebbieMiller SuzanneJohnson Simon RHunt Hazel JHenske Elizabeth PKwiatkowski DavidRadzikowska ElżbietaMateo FrancescaPujana Miquel Angel - Epithelioid angiomyolipoma is a rare perivascular epithelioid cell tumor subtype with malignant potential. Its morphology mimics renal cell carcinoma, posing diagnostic challenges. Half of these cases harbor / alterations, and a small subset features rearrangements, mutually exclusive of mutations. Recently, "perivascular epithelioid cell tumor-like neoplasms" with fusion lacking melanocytic markers were described. - Source: PubMed
Publication date: 2026/06/21
Kondo YukaNagashima YojiZennami KenjiSato MegumiSumiyoshi SayakaSugimoto AkihikoIsomura MadokaTakahara KiyoshiMinamiguchi Sachiko