Results 71 to 80 of about 23,999 (238)

mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis

Neurobiology of Disease, 2017
Tuberous sclerosis complex (TSC) is a rare, genetic disease caused by loss-of-function mutations in either TSC1 or TSC2. Patients with TSC are neurologically characterized by the presence of abnormal brain structure, intractable epilepsy and TSC ...
Chloë Scheldeman, James D. Mills, Aleksandra Siekierska, Ines Serra, Daniëlle Copmans, Anand M. Iyer, Benjamin J. Whalley, Jan Maes, Anna C. Jansen, Lieven Lagae, Eleonora Aronica, Peter A.M. de Witte   +11 more
doaj   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

TSC2 S1365A mutation potently regulates CD8+ T cell function and differentiation and improves adoptive cellular cancer therapy

JCI Insight, 2023
MTORC1 integrates signaling from the immune microenvironment to regulate T cell activation, differentiation, and function. TSC2 in the tuberous sclerosis complex tightly regulates mTORC1 activation.
Chirag H. Patel, Yi Dong, Navid Koleini, Xiaoxu Wang, Brittany L. Dunkerly-Eyring, Jiayu Wen, Mark J. Ranek, Laura M. Bartle, Daniel B. Henderson, Jason Sagert, David A. Kass, Jonathan D. Powell   +11 more
doaj   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Interactions between TSC2, TBC1D7 and the TSC1delex proteins.

, 2014
TSC1delex proteins were co-expressed with TSC2 and HA-TBC1D7 in transfected HEK 293T cells, and TSC1-TSC2-TBC1D7 complexes were immunoprecipitated with an anti-myc tag antibody.
Marianne Hoogeveen-Westerveld (549062), Ans van den Ouweland (89937), Ushio Kikkawa (226238), Anneke Maat-Kievit (549063), Dicky Halley (366558), Mark Nellist (549064), Arthur Jorge Santiago Lima (549061), Akio Nakashima (271973)   +7 more
core   +1 more source

MPEP eliminates a perseverative behavior in TSC2^+/− mice.

, 2013
(a) During reversal training, TSC2+/− mice make significantly more errors toward the conditioned arm in the RAWM (two-way ANOVA; WT n = 21; TSC2 n = 23; F(3, 43) = 9.160, p = 0.0034).
Trina Basu (445063), Kenneth J. O'Riordan (199412), Allison Kirchner (445064), Corinna Burger (199443), Avtar Roopra (140005), Wyatt B. Potter (367463), Paul Rutecki (445065)   +6 more
core   +1 more source

Phthalate Metabolite, Mono(2‐Ethyl‐5‐Hydroxyhexyl) Phthalate (MEHHP), Promotes Uterine‐Fibroid–Associated Phenotypes in Myometrial Stem Cell‐Derived 3D Organoids

Environmental Toxicology, EarlyView.
ABSTRACT This study investigates how phthalate exposure contributes to uterine fibroid (UF) development by studying the effects of the Mono‐(2‐ethyl‐5‐hydroxyhexyl) phthalate (MEHHP), a metabolite of Di(2‐ethylhexyl) phthalate, on myometrial stem cells (MMSCs).
Somayeh Vafaei, Mervat M. Omran, Qiwei Yang, Sandra Madueke‐Laveaux, Ami R. Zota, Ayman Al‐Hendy, Mohamed Ali   +6 more
wiley   +1 more source

TCS2 Increases Olaquindox-Induced Apoptosis by Upregulation of ROS Production and Downregulation of Autophagy in HEK293 Cells

Molecules, 2017
Olaquindox, a feed additive, has drawn public attention due to its potential mutagenicity, genotoxicity, hepatoxicity and nephrotoxicity. The purpose of this study was to investigate the role of tuberous sclerosis complex (TSC2) pathways in olaquindox ...
Daowen Li, Kena Zhao, Xiayun Yang, Xilong Xiao, Shusheng Tang   +4 more
doaj   +1 more source

mTOR signaling and endometrial receptivity in infertile women with intramural uterine leiomyomas

Middle East Fertility Society Journal, 2023
Background Receptive endometrium is a restraining factor in the establishment of pregnancy in several estrogen-dependent gynecological disorders including uterine leiomyomas. Recently, data are beginning to accrue suggesting negative impact of non-cavity
Annu Makker, Madhu Mati Goel, Dipti Nigam, Isha Makker, Amita Pandey   +4 more
doaj   +1 more source

Two Novel Gross Deletions of TSC2 in Malaysian Patients with Tuberous Sclerosis Complex and TSC2/PKD1 Contiguous Deletion Syndrome [PDF]

Japanese Journal of Clinical Oncology, 2014
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, respectively.
Nur Farrah Dila, Ismail, Nik Mohd Ariff, Nik Abdul Malik, Jafar, Mohseni, Abdulqawee Mahyoob, Rani, Fatemeh, Hayati, Abdul Razak, Salmi, Mohd Yusof, Narazah, Z A M H, Zabidi-Hussin, Abdul Rashid, Silawati, Wee Teik, Keng, Lock Hock, Ngu, Teguh Haryo, Sasongko   +11 more
openaire   +2 more sources