Results 91 to 100 of about 29,860 (247)

Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

Frontiers in Genetics, 2020
Tuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway.
Yifeng Ding, Ji Wang, Shuizhen Zhou, Yuanfeng Zhou, Linmei Zhang, Lifei Yu, Yi Wang   +6 more
doaj   +1 more source

The Dynamics of Merging Clusters: A Monte Carlo Solution Applied to the Bullet and Musket Ball Clusters

, 2013
Merging galaxy clusters have become one of the most important probes of dark matter, providing evidence for dark matter over modified gravity and even constraints on the dark matter self-interaction cross-section.
Dawson, William A.
core   +1 more source

Renal cell carcinoma with fibromyomatous stroma (RCC FMS) and with hemangioblastoma‐like areas is part of the RCC FMS spectrum in patients with tuberous sclerosis complex

Histopathology, EarlyView.
We report on three patients with Tuberous Sclerosis Complex (TSC) who had renal cell carcinomas with fibromyomatous stroma (RCC FMS), demonstrating a coexistent haemangioblastoma (HB)‐like morphology. Our findings support the conclusion that HB‐like features are part of the spectrum of RCC FMS with TSC/MTOR alterations.
Katherina Baranova, Jacob A Houpt, Deaglan Arnold, Andrew A House, Laura Lockau, Lindsay Ninivirta, Stephen Pautler, Haiying Chen, Madeleine Moussa, Rola Saleeb, Jose A Gomez, Asli Yilmaz, Farshid Siadat, Adrian Box, Douglas J Mahoney, Franz J Zemp, Manal Gabril, Kiril Trpkov   +17 more
wiley   +1 more source

Loss of macrophage TSC1 exacerbates sterile inflammatory liver injury through inhibiting the AKT/MST1/NRF2 signaling pathway

Cell Death and Disease
Tuberous sclerosis complex 1 (TSC1) plays important roles in regulating innate immunity. However, the precise role of TSC1 in macrophages in the regulation of oxidative stress response and hepatic inflammation in liver ischemia/reperfusion injury (I/R ...
Ming Ni, Jiannan Qiu, Guoqing liu, Xiaohu Sun, Wenjie Zhu, Peng Wu, Zheng Chen, Jiajing Qiu, Ziming Wu, Yang Zhang, Feng Zhang, Changyong Li, Yuan Gao, Jun Zhou, Qiang Zhu   +14 more
doaj   +1 more source

Renal organoid modeling of tuberous sclerosis complex reveals lesion features arise from diverse developmental processes

Cell Reports, 2022
Summary: Tuberous sclerosis complex (TSC) is a multisystem tumor-forming disorder caused by loss of TSC1 or TSC2. Renal manifestations predominately include cysts and angiomyolipomas. Despite a well-described monogenic etiology, the cellular pathogenesis
Adam Pietrobon, Julien Yockell-Lelièvre, Trevor A. Flood, William L. Stanford   +3 more
doaj  

Linking autism risk genes to morphological and pharmaceutical screening by high‐content imaging: Future directions and opinion

Psychiatry and Clinical Neurosciences, EarlyView.
Next‐generation sequencing has identified risk genes with large effect sizes for autism spectrum disorders (ASD). Although functional analysis of individual risk genes has progressed, the overall picture of ASD pathogenesis is unclear. Therefore, there is a need for morphological profiling of variants in these genes to fully comprehend their ...
Reza K. Arta, Yuichiro Watanabe, Jun Egawa, Vance P. Lemmon, Toshiyuki Someya   +4 more
wiley   +1 more source

Classical scattering of charged particles confined on an inhomogeneous helix

, 2013
We explore the effects arising due to the coupling of the center of mass and relative motion of two charged particles confined on an inhomogeneous helix with a locally modified radius.
Krönke, S., Schmelcher, P., Stockhofe, J., Zampetaki, A. V.   +3 more
core   +1 more source

Changes in multi‐gene cancer panels for children: A 4‐year retrospective review

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract The multi‐gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated.
Elise G. Williams, Elena Kessler, Kristine L. Cooper, Andrea Durst, Julia Meade   +4 more
wiley   +1 more source

TSC1-mTOR signaling determines the differentiation of islet cells [PDF]

Journal of Endocrinology, 2017
Neurogenin3-driven deletion of tuberous sclerosis complex 1 (Tsc1) activated mechanistic target of rapamycin complex 1 (mTORC1) measured by the upregulation of mTOR and S6 phosphorylation in islet cells.Neurogenin3-Tsc1−/−mice demonstrated a significant increase in average islet size and mean area of individual islet cell.
Lingling Han, Yue Yin, Yin Li, Li Ding, Weizhen Zhang, Weizhen Zhang, Jing Zhao   +6 more
openaire   +2 more sources

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source