China
Africa
Explore chapters and articles related to this topic
Neuromuscular Junction Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Diana Mnatsakanova, Qin Li Jiang
AChR antibodies are present in high titers. Additional antibodies associated with thymomatous MG include anti-striated muscle, AChR-modulating, ryanodine, titin, KCNA4, and other paraneoplastic autoantibodies.
Genetic analysis for cognitive flexibility in the trail-making test in attention deficit hyperactivity disorder patients from single nucleotide polymorphism, gene to pathway level
Published in The World Journal of Biological Psychiatry, 2019
Kunlin Zhang, Zili Fan, Yufeng Wang, Stephen V. Faraone, Li Yang, Suhua Chang
Expression data in GTEx (Consortium 2015) showed gene DLGAP1 was mainly expressed in brain, in which, frontal cortex has the highest expression level (Supplementary Figure 1). We further constructed the network connected by DLGAP1 by using the STRING database (Franceschini et al. 2013) (http://www.string-db.org) as shown in Supplementary Figure 2. Several known important interactions, such as DLGAP1–SHANK1, DLGAP1–KCNA4 and DLGAP1–DLG1, were included in the network. Gene CADPS2 is mainly expressed in cerebellar and frontal cortex in brain (as shown in Supplementary Figure 3). In addition, CADPS2 also interacted with several well-known psychiatric disorder-related genes, including BDNF, DRD2 and NRG3 (as shown in Supplementary Figure 4).
Genomic complexity is associated with epigenetic regulator mutations and poor prognosis in diffuse large B-cell lymphoma
Published in OncoImmunology, 2021
Hua You, Zijun Y. Xu-Monette, Li Wei, Harry Nunns, Máté L. Nagy, Govind Bhagat, Xiaosheng Fang, Feng Zhu, Carlo Visco, Alexandar Tzankov, Karen Dybkaer, April Chiu, Wayne Tam, Youli Zu, Eric D. Hsi, Fredrick B. Hagemeister, Jooryung Huh, Maurilio Ponzoni, Andrés J.M. Ferreri, Michael B. Møller, Benjamin M. Parsons, J. Han Van Krieken, Miguel A. Piris, Jane N. Winter, Yong Li, Qingyan Au, Bing Xu, Maher Albitar, Ken H. Young
To gain further biological insight, we compared the gene expression profiles of MUThigh and MUTlow patients. Prominent GEP signatures were identified for MUThigh in overall cohort, the WT-TP53 subset, and the WT-TP53 GCB subset (Figure 4(a)). Notable signatures among the large number of upregulated genes in MUThigh WT-TP53 GCB included IGHM, voltage-gated ion channel components/regulators (CLCN1, CLCN2, KCNH4, KCNA4, CABP2), p53 inhibitor AGR2, and paradoxically several tumor suppressors and positive regulators of the p53 pathway (DHRS2 that attenuates MDM2-mediated p53 degradation, pro-apoptotic BBC3, SIK1 with role in p53-dependent anoikis and metastasis suppression, CADM4, and INSM2). Downregulated genes included those functioning in tumor suppression (CCDC6, RBL2, NEMF, BCLAF1, RASA1), mRNA metabolism and/or translation regulation (STAU1, SP3, DDX6, PABPC3), cell cycle (NSA2, ANAPC16, PCNP), epigenetic regulation (SMARCA5), degradation (UBE2D2, FEM1C), and others (Table 3.). Among DNA repair genes, HDAC1, ITM2A, PARP1, BCL11B, GATAD2B, and RAB27A were downregulated whereas PARP3, XRCC3, RAD54L, and ERCC2 were upregulated in MUThigh cases. The GO class and gene categories for differentially expressed genes are listed in Table 3. As the MUThigh gene signatures showed involvement of the p53 pathway, we compared the p53/MDM2 expression26,28 in MUThigh and MUTlow patients with WT-TP53. Only in ABC-DLBCL with WT-TP53, MUThigh patients was significantly associated with higher mean levels of WT-p53 and MDM2 overexpression (Figure 4(b)).