Results 81 to 90 of about 25,325 (232)

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +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

Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study

Epilepsia Open, EarlyView.
Abstract Objective To determine the frequency of monogenic variants and pathogenic copy number variants (CNVs) in adults with surgically treated temporal lobe epilepsy (TLE). Methods We performed exome sequencing (ES), including CNV analysis, in 45 adults with TLE who had previously undergone epilepsy surgery.
Antonia P. Pirker, Margot Ernst, Matias Wagner, Silvia B. Bonelli, Karin Trimmel, Judith Jud, Elisabeth Graf, Christian Dorfer, Karl Rössler, Susanne Aull‐Watschinger, Ekaterina Pataraia, Fritz Zimprich, Martin Krenn   +12 more
wiley   +1 more source

Regulation of the mTOR/S6K pathway by cellular energy [PDF]

, 2009
The mammalian target of rapamycin (mTOR) signaling pathway integrates positive and negative signals that control cellular growth, metabolism and survival. mTOR exists in two different complexes, mTOR Complex1 and mTOR Complex2.
Kalender, Adem
core   +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

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

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

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

BMC Medical Genetics, 2008
Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues.
Dommering Charlotte, Baars Marieke, Maat-Kievit Anneke, Wessels Marja, Adriaans Alwin, Goedbloed Miriam, Sancak Őzgür, Nellist Mark, van den Ouweland Ans, Halley Dicky   +9 more
doaj   +1 more source

Natural Products Exhibit Therapeutic Potential in Treating Rheumatoid Arthritis by Targeting the PI3K/Akt Signaling Pathway

Phytotherapy Research, EarlyView.
This review summarizes how natural products, mainly including flavonoids, terpenoids, alkaloids, and polyphenols alleviate RA via PI3K/Akt pathway, regulating inflammation, proliferation, apoptosis, angiogenesis, and osteoclast differentiation. The figure was created by Figdraw (https://www.figdraw.com/#/).
Haishuo Ren, Yige Wang, Wenjing Ma, Omachi Daniel Ogaji, Shujing Chen, Kunze Du, Xuemi Zhang, Bo Xu, Shanxing Zhai, Shiming Fang, Yanxu Chang   +10 more
wiley   +1 more source