Results 61 to 70 of about 37,863 (256)

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Tsc2 mutation induces renal tubular cell nonautonomous disease

Genes & Diseases, 2022
TSC renal cystic disease is poorly understood and has no approved treatment. In a new principal cell-targeted murine model of Tsc cystic disease, the renal cystic epithelium is mostly composed of type A intercalated cells with an intact Tsc2 gene confirmed by sequencing, although these cells exhibit a Tsc-mutant disease phenotype.
Prashant Kumar, Fahad Zadjali, Ying Yao, Daniel Johnson, Brian Siroky, Aristotelis Astrinidis, Peter Vogel, Kenneth W. Gross, John J. Bissler   +8 more
openaire   +3 more sources

Ablation of TSC2 enhances insulin secretion by increasing the number of mitochondria through activation of mTORC1. [PDF]

PLoS ONE, 2011
AIM:We previously found that chronic tuberous sclerosis protein 2 (TSC2) deletion induces activation of mammalian target of rapamycin Complex 1 (mTORC1) and leads to hypertrophy of pancreatic beta cells from pancreatic beta cell-specific TSC2 knockout ...
Maki Koyanagi, Shun-ichiro Asahara, Tomokazu Matsuda, Naoko Hashimoto, Yutaka Shigeyama, Yuki Shibutani, Ayumi Kanno, Megumi Fuchita, Tomoko Mikami, Tetsutya Hosooka, Hiroshi Inoue, Michihiro Matsumoto, Masato Koike, Yasuo Uchiyama, Tetsuo Noda, Susumu Seino, Masato Kasuga, Yoshiaki Kido   +17 more
doaj   +1 more source

MicroRNA co-expression networks exhibit increased complexity in pancreatic ductal compared to Vater’s papilla adenocarcinoma [PDF]

, 2017
iRNA expression abnormalities in adenocarcinoma arising from pancreatic ductal system (PDAC) and Vater’s papilla (PVAC) could be associated with distinctive pathologic features and clinical cancer behaviours.
Andriulli, Angelo, Biagini, Tommaso, Capocefalo, Daniele, Carella, Massimo, Copetti, Massimiliano, De Bonis, Antonio, Di Sebastiano, Pierluigi, Francesco Di Mola, Fabio, Fusilli, Caterina, Maiello, Evaristo, Mastrodonato, Nicola, Mazza, Tommaso, Pazienza, Valerio, Piepoli, Ada, Tavano, Francesca   +14 more
core   +1 more source

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Advanced Science, EarlyView.
Identifying disease‐causing genes in neurocognitive disorders remains challenging due to variants of uncertain significance. CLinNET employs dual‐branch neural networks integrating Reactome pathways and Gene Ontology terms to provide pathway‐level interpretability of genomic alterations.
Ivan Bakhshayeshi, Mohammad Mahdi Hosseini, Ahmadreza Argha, Roxana Zahedi, Nigel H. Lovell, Hamid Alinejad‐Rokny   +5 more
wiley   +1 more source

Nap1L4a Cooperates with Scl/Klf1 to Recruit H2A.Z in Mediating Interactions Among Cis‐Regulatory Elements and Transcription Required for Primitive Erythropoiesis in Zebrafish

Advanced Science, EarlyView.
Nap1l4a is required in erythropoiesis and hypoxia responses via physical interaction with Klf1 and Scl to recruit the histone variant H2A.Z. This facilitates its associated cis‐regulatory element (CRE) remodeling and the consequent chromatin assembly, and activates the transcription of erythroid lineage‐specific genes.
JiaHao Shi, FuMing Lai, Zheng Shen, XiaoYan Zhang, HanFei Wang, WenYe Liu, YunLong Wang, KuanYu Li, GuoLiang Li, YaPing Fang, Jing‐Xia Liu   +10 more
wiley   +1 more source

Regulation of TSC2 by 14-3-3 Binding [PDF]

Journal of Biological Chemistry, 2002
Mutation in either the TSC1 or TSC2 tumor suppressor gene is responsible for the inherited genetic disease of tuberous sclerosis complex. TSC1 and TSC2 form a physical and functional complex to regulate cell growth. Recently, it has been demonstrated that TSC1.TSC2 functions to inhibit ribosomal S6 kinase and negatively regulate cell size.
Yong, Li, Ken, Inoki, Raymond, Yeung, Kun-Liang, Guan   +3 more
openaire   +2 more sources

Rapamycin-insensitive up-regulation of adipocyte phospholipase A2 in tuberous sclerosis and lymphangioleiomyomatosis. [PDF]

PLoS ONE, 2014
Tuberous sclerosis syndrome (TSC) is an autosomal dominant tumor suppressor gene syndrome affecting multiple organs, including renal angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM).
Chenggang Li, Erik Zhang, Yang Sun, Po-Shun Lee, Yongzhong Zhan, Yanan Guo, Juan C Osorio, Ivan O Rosas, Kai-Feng Xu, David J Kwiatkowski, Jane J Yu   +10 more
doaj   +1 more source

Dynamic Akt/mTOR Signaling in Children with Autism Spectrum Disorder. [PDF]

, 2017
Autism spectrum disorder (ASD) is a behaviorally defined disorder affecting 1 in 68 children. Currently, there is no known cause for the majority of ASD cases nor are there physiological diagnostic tools or biomarkers to aid behavioral diagnosis.
Ashwood, Paul, Onore, Charity, Van de Water, Judy, Yang, Houa   +3 more
core   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source