Results 81 to 90 of about 20,510 (176)

Establishment of Tsc2-deficient rat embryonic stem cells

International Journal of Oncology, 2015
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by TSC1 or TSC2 mutations. TSC causes the development of tumors in various organs such as the brain, skin, kidney, lung, and heart. The protein complex TSC1/2 has been reported to have an inhibitory function on mammalian target of rapamycin complex 1 (mTORC1).
Yoshitaka, Ito, Haruna, Kawano, Fumio, Kanai, Eri, Nakamura, Norihiro, Tada, Setsuo, Takai, Shigeo, Horie, Hajime, Arai, Toshiyuki, Kobayashi, Okio, Hino   +9 more
openaire   +3 more sources

Double‐chambered left ventricle in a pediatric patient with tuberous sclerosis complex: A case report

Pediatric Investigation, EarlyView.
Haoxuan Li, Yufei Xie, Qun Wu, Xiaomin Duan, Fangyun Wang, Xin Zhang, Jing Wang   +6 more
wiley   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 862-870, April 2026.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

Heterozygous inactivation of tsc2 enhances tumorigenesis in p53 mutant zebrafish

Disease Models & Mechanisms, 2013
SUMMARY Tuberous sclerosis complex (TSC) is a multi-organ disorder caused by mutations of the TSC1 or TSC2 genes. A key function of these genes is to inhibit mTORC1 (mechanistic target of rapamycin complex 1) kinase signaling. Cells deficient for TSC1 or
Seok-Hyung Kim, Marie L. Kowalski, Robert P. Carson, L. Richard Bridges, Kevin C. Ess   +4 more
doaj   +1 more source

A Single Bout of Aerobic Exercise Increases Neuronal Extracellular Vesicle‐Derived Insulin Signaling Biomarkers in Adults With Cardiometabolic Risk

Comprehensive Physiology, Volume 16, Issue 2, April 2026.
A single bout of aerobic exercise performed the night before increased some insulin signaling proteins classically involved in glucose metabolism as well as those implicated in neuronal cell growth and proliferation. We specifically observed that exercise may modulate some of these nEV‐derived biomarkers during the fasting and/or post‐glucose ingestion
Steven K. Malin, Daniel J. Battillo, Michal S. Beeri, Maja Mustapic, Dimitrios Kapogiannis   +4 more
wiley   +1 more source

Papillary renal cell carcinoma, formerly known as Type 2: a single institutional study addressing histologic and molecular features

Histopathology, Volume 88, Issue 5, Page 1044-1050, April 2026.
Papillary renal cell carcinoma (pRCC) accounts for 15%–20% of RCC cases and is the second most common histologic subtype of RCC. In contrast to other common RCC subtypes, there continues to be ongoing debate about how to classify RCCs with papillary architecture and eosinophilic cytoplasm, given the heterogeneity of histologic, IHC and molecular ...
Melissa Yuwono Tjota, Jung Woo Kwon, Pankhuri Wanjari, Tatjana Antic   +3 more
wiley   +1 more source

TSC2 gene characterization and mechanism of ammonia nitrogen stress inhibiting growth through AMPK/mTOR pathway mediated by TSC2 in Megalobrama amblycephala

Aquaculture Reports
This study was performed to evaluate the role of TSC2 (tuberous sclerosis complex 2) in the regulation of growth inhibition of fish exposed to chronic ammonia nitrogen.
Xiangyang Yuan, Qian Wang, Mengyang Dai, Hengjie Wang, Xinyu Xiong, Liang Pan, Canli Wang   +6 more
doaj   +1 more source

Exceptional therapeutic benefit of imatinib in cKIT‐mutated mucosal melanoma followed by a KIT mutation loss

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Hannah Zillikens, Corinna Scheib, Vicky Peller, Christina Müller, Sebastian Bauer, Ina Pretzell, Klaus Griewank, Antje Sucker, Eva Hadaschik, Felicitas Guntrum, Sven Holger Baum, Alexander Roesch, Selma Ugurel, Dirk Schadendorf, Lisa Zimmer, Elisabeth Livingstone   +15 more
wiley   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, Volume 4, Issue 1, Page 64-73, March 2026.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

Durable Disease Control With Nivolumab in Malignant Epithelioid Angiomyolipoma: A Case Report

IJU Case Reports, Volume 9, Issue 2, March 2026.
ABSTRACT Introduction Epithelioid angiomyolipoma is a subtype of perivascular epithelioid cell tumors that may exhibit malignant behavior. While mammalian target of rapamycin inhibitors are commonly used for systemic treatment, the efficacy of immune checkpoint inhibitors remains unclear.
Hiroki Shimoda, Shohei Fukuda, Daiki Yafuso, Kouhei Yamamoto, Yudai Ishikawa, Hiroshi Fukushima, Yuma Waseda, Hajime Tanaka, Soichiro Yoshida, Yasuhisa Fujii   +9 more
wiley   +1 more source