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973 Possible Causes for ARX, human, protein

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  • Lilium

    We have reported the cross-reactivity of a 55-kD protein in plants with rabbit anti-human VN antibodies and the presence of VN-like sequences in plant genomes using a human[ncbi.nlm.nih.gov] * VII mid red, red spots, white edges 'Sterling Star' I early-mid cream, brown spots 'White Henryi' VI mid white-orange, recurved (superbum and Stargazer photos courtesy Arx[pss.uvm.edu] […] protect cells against the radiomimetic zeocin, as well as to their cytotoxic and genotoxic activities in two types of experimental eukaryotic test systems: Hordeum vulgare and human[ncbi.nlm.nih.gov]

  • Thiopental

    In this study, we examined the effects of these drugs on the yawning response elicited by intravenous thiopental in humans.[ncbi.nlm.nih.gov] Thiopental induced hsp27, -70, and -90 but not hsp32 mRNA expression as well as hsp70 protein expression.[ncbi.nlm.nih.gov] Here we show that thiopental inhibits global protein synthesis, which preserves the intracellular energy metabolite content in oxygen-deprived human neuronal SK-N-SH cells[ncbi.nlm.nih.gov]

  • Nystagmus

    Firstly, human optokinetic nystagmus SP durations are consistent with a model of a Gaussian basic interval generator (a type of biological clock), such that FPs can be triggered[ncbi.nlm.nih.gov] METHODS: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7) and G protein-coupled receptor 143 gene (GPR143) account[ncbi.nlm.nih.gov] In mice and humans, KIDINS220 is alternative spliced in the middle region as well as in the last exon.[ncbi.nlm.nih.gov]

  • Lissencephaly

    Copyright 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov] […] the homeodomain of the protein, confirming that ARX is a causative gene for XLAG.[ncbi.nlm.nih.gov] It involves not only dynein and dynein-associated proteins such as LIS1 but also SUN proteins of the nuclear envelope.[ncbi.nlm.nih.gov]

  • Movement Disorder

    Abstract ARX mutations are associated with variable clinical phenotypes.[ncbi.nlm.nih.gov] Abstract Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses.[ncbi.nlm.nih.gov] […] gap in our knowledge is illustrated by the recent reports of heterozygous rad51 mutations causing mysterious symptoms of congenital mirror hand movement disorder (MM) in humans[ncbi.nlm.nih.gov]

  • Rett Syndrome

    KEYWORDS: ChAT; Choline; Human iPSC; Lipid metabolite profile; MeCP2; Neutraceutical; Rett syndrome; Synaptic functions[ncbi.nlm.nih.gov] Mutation analyses for methyl-CpG-binding protein 2 (MECP2), cyclin-dependent kinase-like 5 (CDKL5/STK9), ARX and Forkhead box G1 (FOXG1) genes were carried out, with negative[ncbi.nlm.nih.gov] The posttranslational modifications of proteins via 4HNE, known as 4HNE protein adducts (4NHE-PAs), causing detrimental effects on protein functions, appear to contribute[ncbi.nlm.nih.gov]

  • Temozolomide

    RESULTS: We found that FTY720 suppressed the protein and mRNA levels of Nrf2 in human U251MG and U87MG glioblastoma cells lines.[ncbi.nlm.nih.gov] De Divitiis C 1 , von Arx C 2 , Grimaldi AM 3 , Cicala D 4 , Tatangelo F 5 , Arcella A 6 , Romano GM 1 , Simeone E 3 , Iaffaioli RV 1 , Ascierto PA 3 , Tafuto S 7 ; European[ncbi.nlm.nih.gov] We did not detect O(6) -methylguanine-DNA methyltransferase (MGMT) promoter methylation in tumor samples; however, MGMT protein expression was low.[ncbi.nlm.nih.gov]

  • Lafora Disease

    Forms and Documents Test Details Genes: ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4[genedx.com] We analysed in detail the amino acid sequence of this protein.[ncbi.nlm.nih.gov] Phosphatases, Non-Receptor EPM2A protein, human Grant support NS42376/NS/NINDS NIH HHS/United States[ncbi.nlm.nih.gov]

  • Polygonatum

    In addition, POL displayed no significant cytotoxicity toward normal human embryonic lung fibroblast HELF cells.[ncbi.nlm.nih.gov] Phytopathol Z 29:413–468 Google Scholar von Arx JA (ed) (1987) Plant pathogenic fungi.[link.springer.com] Quantitative RT-PCR and Western blot were performed to detect the mRNA and protein expressions, respectively.[ncbi.nlm.nih.gov]

  • Angelman Syndrome

    We report that APP total, APP alpha (sAPPα) and A Beta 40 and 42 are elevated in the plasma of humans with Angelman Syndrome compared to neurotypical matched human samples[ncbi.nlm.nih.gov] Our Rett/Angelman Sequencing Panel includes sequence analysis of the following 21 genes: ARX, ATRX, CDKL5, CNTNAP2, DYRK1A, EHMT1, FOLR1, FOXG1, MBD5, MECP2, MEF2C, NRXN1,[dnatesting.uchicago.edu] Both in vitro and in vivo, the loss of Ube3a and corresponding elevated pH of the GA is associated with a marked reduction in protein sialylation, a process highly dependent[ncbi.nlm.nih.gov]