Results 121 to 130 of about 36,428 (236)

Comparison of three rapamycin dosing schedules in A/J Tsc2^+/- mice and improved survival with angiogenesis inhibitor or asparaginase treatment in mice with subcutaneous tuberous sclerosis related tumors

Journal of Translational Medicine, 2010
Background Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor disorder characterized by the growth of hamartomas in various organs including the kidney, brain, skin, lungs, and heart.
Dabora Sandra L, Nobil Alison, Woodrum Chelsey   +2 more
doaj   +1 more source

Antenatal diagnosis and maternal sirolimus treatment of polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Background Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome is a rare autosomal recessive mTORopathy caused by biallelic STE20‐related kinase adaptor alpha (STRADA) loss‐of‐function variants. Animal models demonstrate that in utero mechanistic target of rapamycin (mTOR) inhibition can prevent cortical dyslamination ...
Christian Macedonia, Vincent J. Carson, D. Holmes Morton, Karin J. Blakemore, Mark I. Evans, Peter B. Crino   +5 more
wiley   +1 more source

mTOR/miR-142-3p/PRAS40 signaling cascade is critical for tuberous sclerosis complex-associated renal cystogenesis

Cellular & Molecular Biology Letters
Background Patients with tuberous sclerosis complex (TSC) develop renal cysts and/or angiomyolipomas (AMLs) due to inactive mutations of either TSC1 or TSC2 and consequential mTOR hyperactivation.
Shuyun Zhao, Shuai Hao, Jiasheng Zhou, Xinran Chen, Tianhua Zhang, Zhaolai Qi, Ting Zhang, Sajid Jalal, Chuanxin Zhai, Lu Yin, Yufei Bo, Hongming Teng, Yue Wang, Dongyan Gao, Hongbing Zhang, Lin Huang   +15 more
doaj   +1 more source

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

Cell Reports, 2016
Hyperfunction of the mTORC1 pathway has been associated with idiopathic and syndromic forms of autism spectrum disorder (ASD), including tuberous sclerosis, caused by loss of either TSC1 or TSC2. It remains largely unknown how developmental processes and
Veronica Costa, Stefan Aigner, Mirko Vukcevic, Evelyn Sauter, Katharina Behr, Martin Ebeling, Tom Dunkley, Arno Friedlein, Sannah Zoffmann, Claas A. Meyer, Frédéric Knoflach, Sebastian Lugert, Christoph Patsch, Fatiha Fjeldskaar, Laurie Chicha-Gaudimier, Anna Kiialainen, Paolo Piraino, Marc Bedoucha, Martin Graf, Sebastian Jessberger, Anirvan Ghosh, Josef Bischofberger, Ravi Jagasia   +22 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

T Cell Immunosenescence in Inflammatory Skin Diseases: Pathogenesis and Therapeutic Targets

Aging Cell, Volume 25, Issue 5, May 2026.
Immunosenescent T cells promote inflammatory skin diseases such as psoriasis, atopic dermatitis, rosacea, and seborrheic dermatitis via hyperactive signaling networks and SASP secretion. Consequently, intercepting downstream SASP, inhibiting internal pathways, or utilizing senolytics represents promising therapeutic interventions.
Conghui Liu, Ming Yang, Fugang Xiao, Jinrong Zeng   +3 more
wiley   +1 more source

Developing a mouse model to study the metabolic role of the mammalian target of rapamycin complex 1 in adipose tissue [PDF]

, 2016
The term "diabesity" is a pandemic that is threatening populations worldwide and is the term is finding itself as a household name, fueling itself through the high-fat diet and sedentary lifestyle.
Thimmiah, Harun
core   +1 more source

Clinical and Genetic Landscape of Glioblastoma, IDH‐Wildtype With FGFR Gene Family Alterations

Cancer Science, Volume 117, Issue 5, Page 1455-1468, May 2026.
We analyzed 1076 cases of glioblastoma, IDH‐wildtype (GBM, IDH‐wt) using the C‐CAT genomic database to clarify the clinical and genetic features of FGFR alterations. FGFR::TACC fusions and FGFR1 mutations were identified in distinct subsets and were associated with unique co‐mutation patterns.
Yasuhito Kegoya, Yoshihiro Otani, Ryo Mizuta, Ryosuke Ikemachi, Mako Kamiura, Joji Ishida, Shinichi Toyooka, Daisuke Ennishi, Shuta Tomida, Shota Tanaka   +9 more
wiley   +1 more source

Toward chemotherapy for Tsc2-mutant renal tumor.

Proceedings of the Japan Academy, Series B, 2003
Recent genetic studies of Drosophila melanogaster and subsequent biochemical analysis in mammalian cells revealed that products of tuberous sclerosis genes, TSC1 and TSC2, regulate insulin signaling via suppression of p70 ribosomal S6 subunit-kinase (S6K) activity.
Toshiyuki KOBAYASHI, Hiroyuki ADACHI, Hiroaki MITANI, Youko HIRAYAMA, Okio HINO   +4 more
openaire   +2 more sources

LAT1/SLC7A5‐mediated amino acid uptake is regulated by redox signals triggered by formyl‐peptide receptor 2

The FEBS Journal, Volume 293, Issue 9, Page 2637-2655, May 2026.
FPR2 activation mediates NOX‐dependent LAT1 expression and, in turn, promotes mTORC1 signaling. Upon stimulation with WKYMVm, the FPR2‐NOX2‐ROS axis upregulates LAT1 via increased c‐Myc phosphorylation and decreased miR‐126. Additionally, it promotes CD98 translocation to the plasma membrane.
Myrhiam Cassese, Chiara Brignola, Stefano Marrone, Gabriella Esposito, Rosario Ammendola, Fabio Cattaneo   +5 more
wiley   +1 more source