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https://www.readbyqxmd.com/read/28103279/aristaless-related-homeobox-arx-interacts-with-%C3%AE-catenin-bcl9-and-p300-to-regulate-canonical-wnt-signaling
#1
Il-Taeg Cho, Youngshin Lim, Jeffrey A Golden, Ginam Cho
Mutations in the Aristaless Related Homeobox (ARX) gene are associated with a spectrum of structural (lissencephaly) and functional (epilepsy and intellectual disabilities) neurodevelopmental disorders. How mutations in this single transcription factor can result in such a broad range of phenotypes remains poorly understood. We hypothesized that ARX functions through distinct interactions with specific transcription factors/cofactors to regulate unique target genes in different cell types. To identify ARX interacting proteins, we performed an unbiased proteomics screen and identified several components of the Wnt/β-catenin signaling pathway, including β-catenin (CTNNB1), B-cell CLL/lymphoma 9 (BCL9) and leucine rich repeat flightless interacting protein 2 (LRRFIP2), in cortical progenitor cells...
2017: PloS One
https://www.readbyqxmd.com/read/28092593/robust-estimation-of-arx-models-with-time-varying-time-delays-using-variational-bayesian-approach
#2
Yujia Zhao, Alireza Fatehi, Biao Huang
This paper is concerned with robust identification of processes with time-varying time delays. In reality, the delay values do not simply change randomly, but there is a correlation between consecutive delays. In this paper, the correlation of time delay is modeled by the transition probability of a Markov chain. Furthermore, the measured data are often contaminated by outliers, and therefore, t-distribution is adopted to model the measurement noise. The variational Bayesian (VB) approach is applied to estimate the model parameters along with time delays...
January 10, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28035656/the-internal-representation-of-head-orientation-differs-for-conscious-perception-and-balance-control
#3
Brian H Dalton, Brandon G Rasman, J Timothy Inglis, Jean-Sébastien Blouin
We tested perceived head-on-feet orientation and the direction of vestibular-evoked balance responses in passively- and actively-held head-turned postures The direction of vestibular-evoked balance responses was not aligned with perceived head-on-feet orientation while maintaining prolonged passively-held head-turned postures. Furthermore, static visual cues of head-on-feet orientation did not update the estimate of head posture for the balance controller A prolonged actively-held head-turned posture did not elicit a rotation in the direction of the vestibular-evoked balance response despite a significant rotation in perceived angular head posture It is proposed that conscious perception of head posture and the transformation of vestibular signals for standing balance relying on this head posture are not dependent on the same internal representation...
December 30, 2016: Journal of Physiology
https://www.readbyqxmd.com/read/28017372/a-syndromic-neurodevelopmental-disorder-caused-by-de-novo-variants-in-ebf3
#4
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft, Fan Xia, Nicholas Stong, Travis K Johnson, Coral G Warr, Shinya Yamamoto, David R Adams, Thomas C Markello, William A Gahl, Hugo J Bellen, Michael F Wangler, May Christine V Malicdan
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals have shown that EBF3 homologs are essential for survival and that loss-of-function mutations are associated with a range of nervous system developmental defects, including perturbation of neuronal development and migration. Interestingly, aristaless-related homeobox (ARX), a homeobox-containing transcription factor critical for the regulation of nervous system development, transcriptionally represses EBF3 expression...
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27993987/the-mammal-specific-pdx1-area-ii-enhancer-has-multiple-essential-functions-in-early-endocrine-cell-specification-and-postnatal-%C3%AE-cell-maturation
#5
Yu-Ping Yang, Mark A Magnuson, Roland Stein, Christopher V E Wright
The transcription factor Pdx1 is required for multiple aspects of pancreatic organogenesis. It remains unclear to what extent Pdx1 expression and function depend upon trans-activation through 5' conserved cis-regulatory regions and, in particular, whether the mammal-specific Area II (-2139 to -1958 bp) affects minor or major aspects of organogenesis. We show that Area II is a primary effector of endocrine-selective transcription in epithelial multipotent cells, nascent endocrine progenitors, and differentiating and mature β cells in vivo Pdx1(ΔAREAII/-) mice exhibit a massive reduction in endocrine progenitor cells and progeny hormone-producing cells, indicating that Area II activity is fundamental to mounting an effective endocrine lineage-specification program within the multipotent cell population...
January 15, 2017: Development
https://www.readbyqxmd.com/read/27966542/epilepsy-causing-sequence-variations-in-sik1-disrupt-synaptic-activity-response-gene-expression-and-affect-neuronal-morphology
#6
Christoph Pröschel, Jeanne N Hansen, Adil Ali, Emily Tuttle, Michelle Lacagnina, Georgia Buscaglia, Marc W Halterman, Alex R Paciorkowski
SIK1 syndrome is a newly described developmental epilepsy disorder caused by heterozygous mutations in the salt-inducible kinase SIK1. To better understand the pathophysiology of SIK1 syndrome, we studied the effects of SIK1 pathogenic sequence variations in human neurons. Primary human fetal cortical neurons were transfected with a lentiviral vector to overexpress wild-type and mutant SIK1 protein. We evaluated the transcriptional activity of known downstream gene targets in neurons expressing mutant SIK1 compared with wild type...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27959823/decoupled-arx-and-rbf-neural-network-modeling-using-pca-and-ga-optimization-for-nonlinear-distributed-parameter-systems
#7
Ridong Zhang, Jili Tao, Renquan Lu, Qibing Jin
Modeling of distributed parameter systems is difficult because of their nonlinearity and infinite-dimensional characteristics. Based on principal component analysis (PCA), a hybrid modeling strategy that consists of a decoupled linear autoregressive exogenous (ARX) model and a nonlinear radial basis function (RBF) neural network model are proposed. The spatial-temporal output is first divided into a few dominant spatial basis functions and finite-dimensional temporal series by PCA. Then, a decoupled ARX model is designed to model the linear dynamics of the dominant modes of the time series...
December 8, 2016: IEEE Transactions on Neural Networks and Learning Systems
https://www.readbyqxmd.com/read/27939565/adaptive-mpc-based-on-mimo-arx-laguerre-model
#8
Imen Ben Abdelwahed, Abdelkader Mbarek, Kais Bouzrara
This paper proposes a method for synthesizing an adaptive predictive controller using a reduced complexity model. This latter is given by the projection of the ARX model on Laguerre bases. The resulting model is entitled MIMO ARX-Laguerre and it is characterized by an easy recursive representation. The adaptive predictive control law is computed based on multi-step-ahead finite-element predictors, identified directly from experimental input/output data. The model is tuned in each iteration by an online identification algorithms of both model parameters and Laguerre poles...
December 7, 2016: ISA Transactions
https://www.readbyqxmd.com/read/27916275/artemisinins-target-gabaa-receptor-signaling-and-impair-%C3%AE-cell-identity
#9
Jin Li, Tamara Casteels, Thomas Frogne, Camilla Ingvorsen, Christian Honoré, Monica Courtney, Kilian V M Huber, Nicole Schmitner, Robin A Kimmel, Roman A Romanov, Caterina Sturtzel, Charles-Hugues Lardeau, Johanna Klughammer, Matthias Farlik, Sara Sdelci, Andhira Vieira, Fabio Avolio, François Briand, Igor Baburin, Peter Májek, Florian M Pauler, Thomas Penz, Alexey Stukalov, Manuela Gridling, Katja Parapatics, Charlotte Barbieux, Ekaterine Berishvili, Andreas Spittler, Jacques Colinge, Keiryn L Bennett, Steffen Hering, Thierry Sulpice, Christoph Bock, Martin Distel, Tibor Harkany, Dirk Meyer, Giulio Superti-Furga, Patrick Collombat, Jacob Hecksher-Sørensen, Stefan Kubicek
Type 1 diabetes is characterized by the destruction of pancreatic β cells, and generating new insulin-producing cells from other cell types is a major aim of regenerative medicine. One promising approach is transdifferentiation of developmentally related pancreatic cell types, including glucagon-producing α cells. In a genetic model, loss of the master regulatory transcription factor Arx is sufficient to induce the conversion of α cells to functional β-like cells. Here, we identify artemisinins as small molecules that functionally repress Arx by causing its translocation to the cytoplasm...
January 12, 2017: Cell
https://www.readbyqxmd.com/read/27867266/a-new-antifungal-isocoumarin-from-the-endophytic-fungus-trichoderma-sp-09-of-myoporum-bontioides-a-gray
#10
Wensheng Li, Jiaxin Xu, Fenqi Li, Li Xu, Chunyuan Li
BACKGROUND: Myoporum bontioides A. Gray is a commonly used medicinal plant in China. Recently, the chemical and bioactive investigations to the endophytic fungi of this plant have led to several new compounds with antimicrobial and cytotoxic activities. To find out more active molecules, the metabolites of an endophytic fungus, Trichoderma sp. 09 from the root of Myoporum bontioides were investigated. MATERIALS AND METHODS: The metabolites were isolated by column chromatography on silica gel, and their structures were elucidated on the basis of spectroscopic analysis[one-dimensional (1D), two-dimensional (2D)-nuclear magnetic resonance (NMR), Mass spectrometry (MS)], and by comparison with the published data...
October 2016: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/27864883/neuronal-sources-of-hedgehog-modulate-neurogenesis-in-the-adult-planarian-brain
#11
Ko W Currie, Alyssa M Molinaro, Bret J Pearson
The asexual freshwater planarian is a constitutive adult, whose central nervous system (CNS) is in a state of constant homeostatic neurogenesis. However, very little is known about the extrinsic signals that act on planarian stem cells to modulate rates of neurogenesis. We have identified two planarian homeobox transcription factors, Smed-nkx2.1 and Smed-arx, which are required for the maintenance of cholinergic, GABAergic, and octopaminergic neurons in the planarian CNS. These very same neurons also produce the planarian hedgehog ligand (Smed-hh), which appears to communicate with brain-adjacent stem cells to promote normal levels of neurogenesis...
November 19, 2016: ELife
https://www.readbyqxmd.com/read/27846270/measurement-invariance-and-latent-mean-differences-in-the-reynolds-intellectual-assessment-scales-rias-does-the-german-version-of-the-rias-allow-a-valid-assessment-of-individuals-with-a-migration-background
#12
Jasmin T Gygi, Elodie Fux, Alexander Grob, Priska Hagmann-von Arx
This study examined measurement invariance and latent mean differences in the German version of the Reynolds Intellectual Assessment Scales (RIAS) for 316 individuals with a migration background (defined as speaking German as a second language) and 316 sex- and age-matched natives. The RIAS measures general intelligence (single-factor structure) and its two components, verbal and nonverbal intelligence (two-factor structure). Results of a multi-group confirmatory factor analysis showed scalar invariance for the two-factor and partial scalar invariance for the single-factor structure...
2016: PloS One
https://www.readbyqxmd.com/read/27808504/a-comparative-analysis-of-the-effector-role-of-redox-partner-binding-in-bacterial-p450s
#13
Dipanwita Batabyal, Ariel Lewis-Ballester, Syun-Ru Yeh, Thomas L Poulos
The camphor monooxygenase, cytochrome P450cam, exhibits a strict requirement for its own redox partner, putidaredoxin (Pdx), a two-iron-sulfur ferredoxin. The closest homologue to P450cam, CYP101D1, is structurally very similar, uses a similar redox partner, and exhibits nearly identical enzymatic properties in the monooxygenation of camphor to give the same single 5-exo-hydroxy camphor product. However, CYP101D1 does not strictly require its own ferredoxin (Arx) for activity because Pdx can support CYP101D1 catalysis but Arx cannot support P450cam catalysis...
November 29, 2016: Biochemistry
https://www.readbyqxmd.com/read/27798861/antiangiogenic-therapy-in-pancreatic-neuroendocrine-tumors
#14
REVIEW
Monica Capozzi, Claudia VON Arx, Chiara DE Divitiis, Alessandro Ottaiano, Fabiana Tatangelo, Giovanni Maria Romano, Salvatore Tafuto
In recent years, many progresses have been pursued in the management of advanced pancreatic neuroendocrine tumor (pNET); most of them were prompted by increasing knowledge of biology of these neoplasms, including the identification of promising biological targets for therapy. PNETs belong to a group of rare neoplastic diseases. They originate from neuroendocrine system cells and are very heterogeneous regarding anatomic localization and aggressiveness. Recently, many efforts have been particularly focused on the identification of pathologic pathways and innovative drugs in order to treat patients with unresectable, metastatic disease, in progressive well-differentiated pNETs...
2016: Anticancer Research
https://www.readbyqxmd.com/read/27798109/embryonic-forebrain-transcriptome-of-mice-with-polyalanine-expansion-mutations-in-the-arx-homeobox-gene
#15
Tessa Mattiske, Kristie Lee, Jozef Gecz, Gaelle Friocourt, Cheryl Shoubridge
The Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in embryonic development. Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. To capture the genetics and molecular disruptions that underpin the ARX-associated clinical phenotypes, we undertook a transcriptome wide RNASeq approach to analyse developing (12.5 dpc) telencephalon of mice modelling two recurrent polyalanine expansion mutations with different phenotypic severities in the ARX gene...
October 25, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27781032/genetic-basis-of-brain-malformations
#16
REVIEW
Elena Parrini, Valerio Conti, William B Dobyns, Renzo Guerrini
Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations...
September 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27779377/comprehensive-analysis-of-a-novel-ketoreductase-for-pentangular-polyphenol-biosynthesis
#17
Timothy R Valentic, David R Jackson, Sean F Brady, Shiou-Chuan Tsai
Arixanthomycins are pentangular polyphenols (PP) with potent antiproliferative activities that were discovered through the heterologous expression of environmental DNA-derived gene clusters. The biosynthesis of arixanthomycin and other PPs is unusual because it requires several novel type II polyketide synthase (PKS) enzymes for its complete maturation. Most type II PKSs contain a ketoreductase (KR) that mediates the C7-C12 first ring cyclization and C-9 reduction. In contrast, based on previous studies of product analysis and genome mining, the arixanthomycin (ARX) gene cluster harbors a C-11 reducing KR (ARX 27), a C9-C14 first-ring aromatase/cyclase (ARX 19), and an unprecedented C-17 and C-19 reducing KR (ARX 21)...
December 16, 2016: ACS Chemical Biology
https://www.readbyqxmd.com/read/27740642/scarring-of-soft-tissues-following-apical-surgery-visual-assessment-of-outcomes-one-year-after-intervention-using-the-bern-and-manchester-scores
#18
Thomas von Arx, Simone Fm Janner, Stefan Hänni, Michael M Bornstein
The successful outcome of apical surgery is usually defined by absence of clinical signs and symptoms and resolution of previous periapical radiolucencies. However, little attention is given to soft tissue scarring. The present study evaluated the severity of gingival and mucosal scarring 1 year following apical surgery of 52 teeth. Clinical pictures taken at the 1-year examination were rated by three observers using specific scarring scores. The overall repeatability of the two scores was high (85.3%), whereas the overall reproducibility was relatively low (44...
November 2016: International Journal of Periodontics & Restorative Dentistry
https://www.readbyqxmd.com/read/27734276/targeted-next-generation-sequencing-the-diagnostic-value-in-early-onset-epileptic-encephalopathy
#19
Sarenur Gokben, Huseyin Onay, Sanem Yilmaz, Tahir Atik, Gul Serdaroglu, Hande Tekin, Ferda Ozkinay
We investigated the genetic background of early-onset epileptic encephalopathy (EE) using targeted next generation sequencing analysis. Thirty sporadic or familial cases associated with early-onset EE were included. An early-onset EE gene panel including sixteen genes (ARX, CDKL5, CNTNAP2, FOLR1, FOXG1, LAMC3, MBD5, MECP2, NTNG1, PCDH19, PNKP, SCN1A, SCN1B, SCN2A, STXBP1, KCNQ2) was constituted. Nine definite and three potential causal mutations in 30 cases (40 %) were identified. All mutations presented heterozygously except one...
October 12, 2016: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/27626649/radiation-retinopathy-15-years-after-orbital-irradiation-for-thyroid-orbitopathy
#20
K Hurtikova, G von Arx, N Fichter, H Gerding
No abstract text is available yet for this article.
April 2016: Klinische Monatsblätter Für Augenheilkunde
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