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https://www.readbyqxmd.com/read/29501611/12q14-microdeletion-syndrome-a-family-with-short-stature-and-silver-russell-syndrome-srs-like-phenotype-and-review-of-the-literature
#1
Frederik Heldt, Hannah Wallaschek, Tim Ripperger, Susanne Morlot, Thomas Illig, Thomas Eggermann, Brigitte Schlegelberger, Caroline Scholz, Doris Steinemann
We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent forehead and a failure to thrive, but did not show relative macrocephaly. In addition, our index patient showed dysmorphic facial features, periodically increased sweating, and scoliosis...
March 1, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29491215/cigarette-smoke-extract-disrupts-transcriptional-activities-mediated-by-thyroid-hormones-and-its-receptors
#2
Misa Hayashi, Kumi Futawaka, Midori Matsushita, Mayuko Hatai, Noriko Yoshikawa, Kazuki Nakamura, Tetsuya Tagami, Kenji Moriyama
Cigarette smoke contains over 4800 compounds, including at least 200 toxicants or endocrine disruptors. Currently, effects of cigarette smoke on thyroid hormone (TH) levels remains to be clarified. Here, we demonstrate that cigarette smoke extract (CSE) possesses thyroid hormone properties and acts synergistically as a partial agonist for thyroid hormone receptors (TRs) in the presence of TH. In transient gene expression experiments, CSE stimulated transcriptional activity with TH in a dose-dependent manner...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29447178/joint-ancestry-and-association-test-indicate-two-distinct-pathogenic-pathways-involved-in-classical-dengue-fever-and-dengue-shock-syndrome
#3
Marisa Oliveira, Worachart Lert-Itthiporn, Bruno Cavadas, Verónica Fernandes, Ampaiwan Chuansumrit, Orlando Anunciação, Isabelle Casademont, Fanny Koeth, Marina Penova, Kanchana Tangnararatchakit, Chiea Chuen Khor, Richard Paul, Prida Malasit, Fumihiko Matsuda, Etienne Simon-Lorière, Prapat Suriyaphol, Luisa Pereira, Anavaj Sakuntabhai
Ethnic diversity has been long considered as one of the factors explaining why the severe forms of dengue are more prevalent in Southeast Asia than anywhere else. Here we take advantage of the admixed profile of Southeast Asians to perform coupled association-admixture analyses in Thai cohorts. For dengue shock syndrome (DSS), the significant haplotypes are located in genes coding for phospholipase C members (PLCB4 added to previously reported PLCE1), related to inflammation of blood vessels. For dengue fever (DF), we found evidence of significant association with CHST10, AHRR, PPP2R5E and GRIP1 genes, which participate in the xenobiotic metabolism signaling pathway...
February 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29390050/a-homozygous-atad1-mutation-impairs-postsynaptic-ampa-receptor-trafficking-and-causes-a-lethal-encephalopathy
#4
Juliette Piard, George K Essien Umanah, Frederike L Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I Rees, Seo-Kyung Chung, Henry Houlden, Alain Verloes, Ted M Dawson, Valina L Dawson, Lionel Van Maldergem, Kerstin Kutsche
Members of the AAA+ superfamily of ATPases are involved in the unfolding of proteins and disassembly of protein complexes and aggregates. ATAD1 encoding the ATPase family, AAA+ domain containing 1-protein Thorase plays an important role in the function and integrity of mitochondria and peroxisomes. Postsynaptically, Thorase controls the internalization of excitatory, glutamatergic AMPA receptors by disassembling complexes between the AMPA receptor-binding protein, GRIP1, and the AMPA receptor subunit GluA2...
January 30, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#5
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29170386/glucocorticoid-induced-phosphorylation-by-cdk9-modulates-the-coactivator-functions-of-transcriptional-cofactor-grip1-in-macrophages
#6
David A Rollins, Joubert B Kharlyngdoh, Maddalena Coppo, Bowranigan Tharmalingam, Sanda Mimouna, Ziyi Guo, Maria A Sacta, Miles A Pufall, Robert P Fisher, Xiaoyu Hu, Yurii Chinenov, Inez Rogatsky
The glucocorticoid (GC) receptor (GR) suppresses inflammation by activating anti-inflammatory and repressing pro-inflammatory genes. GR-interacting protein-1 (GRIP1) is a GR corepressor in macrophages, however, whether GRIP1 mediates GR-activated transcription, and what dictates its coactivator versus corepressor properties is unknown. Here we report that GRIP1 loss in macrophages attenuates glucocorticoid induction of several anti-inflammatory targets, and that GC treatment of quiescent macrophages globally directs GRIP1 toward GR binding sites dominated by palindromic GC response elements (GRE), suggesting a non-redundant GRIP1 function as a GR coactivator...
November 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28978486/grip1-binds-to-apoer2-and-ephrinb2-to-induce-activity-dependent-ampa-receptor-insertion-at-the-synapse
#7
Sylvia Pfennig, Franziska Foss, Diane Bissen, Eva Harde, Julia C Treeck, Marta Segarra, Amparo Acker-Palmer
Regulation of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking in response to neuronal activity is critical for synaptic function and plasticity. Here, we show that neuronal activity induces the binding of ephrinB2 and ApoER2 receptors at the postsynapse to regulate de novo insertion of AMPA receptors. Mechanistically, the multi-PDZ adaptor glutamate-receptor-interacting protein 1 (GRIP1) binds ApoER2 and bridges a complex including ApoER2, ephrinB2, and AMPA receptors. Phosphorylation of ephrinB2 in a serine residue (Ser-9) is essential for the stability of such a complex...
October 3, 2017: Cell Reports
https://www.readbyqxmd.com/read/28904092/map1b-light-chain-modulates-synaptic-transmission-via-ampa-receptor-intracellular-trapping
#8
Rocío Palenzuela, Yolanda Gutiérrez, Jonathan E Draffin, Argentina Lario, Marion Benoist, José A Esteban
The regulated transport of AMPA-type glutamate receptors (AMPARs) to the synaptic membrane is a key mechanism to determine the strength of excitatory synaptic transmission in the brain. In this work, we uncovered a new role for the microtubule-associated protein MAP1B in modulating access of AMPARs to the postsynaptic membrane. Using mice and rats of either sex, we show that MAP1B light chain (LC) accumulates in the somatodendritic compartment of hippocampal neurons, where it forms immobile complexes on microtubules that limit vesicular transport...
October 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28890360/synergistic-regulation-of-coregulator-nuclear-receptor-interaction-by-ligand-and-dna
#9
Ian Mitchelle S de Vera, Jie Zheng, Scott Novick, Jinsai Shang, Travis S Hughes, Richard Brust, Paola Munoz-Tello, William J Gardner, David P Marciano, Xiangming Kong, Patrick R Griffin, Douglas J Kojetin
Nuclear receptor (NR) transcription factors bind various coreceptors, small-molecule ligands, DNA response element sequences, and transcriptional coregulator proteins to affect gene transcription. Small-molecule ligands and DNA are known to influence receptor structure, coregulator protein interaction, and function; however, little is known on the mechanism of synergy between ligand and DNA. Using quantitative biochemical, biophysical, and solution structural methods, including 13 C-detected nuclear magnetic resonance and hydrogen/deuterium exchange (HDX) mass spectrometry, we show that ligand and DNA cooperatively recruit the intrinsically disordered steroid receptor coactivator-2 (SRC-2/TIF2/GRIP1/NCoA-2) receptor interaction domain to peroxisome proliferator-activated receptor gamma-retinoid X receptor alpha (PPARγ-RXRα) heterodimer and reveal the binding determinants of the complex...
October 3, 2017: Structure
https://www.readbyqxmd.com/read/28878246/loss-of-nr2e3-represses-ahr-by-lsd1-reprogramming-is-associated-with-poor-prognosis-in-liver-cancer
#10
Tilak Khanal, Kwangmin Choi, Yuet-Kin Leung, Jiang Wang, Dasom Kim, Vinothini Janakiram, Sung-Gook Cho, Alvaro Puga, Shuk-Mei Ho, Kyounghyun Kim
The aryl hydrocarbon receptor (AHR) plays crucial roles in inflammation, metabolic disorder, and cancer. However, the molecular mechanisms regulating AHR expression remain unknown. Here, we found that an orphan nuclear NR2E3 maintains AHR expression, and forms an active transcriptional complex with transcription factor Sp1 and coactivator GRIP1 in MCF-7 human breast and HepG2 liver cancer cell lines. NR2E3 loss promotes the recruitment of LSD1, a histone demethylase of histone 3 lysine 4 di-methylation (H3K4me2), to the AHR gene promoter region, resulting in repression of AHR expression...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821652/calpain-grip-signaling-in-nucleus-accumbens-core-mediates-the-reconsolidation-of-drug-reward-memory
#11
Jie Liang, Jia-Li Li, Ying Han, Yi-Xiao Luo, Yan-Xue Xue, Yàn Zhang, Yán Zhang, Li-Bo Zhang, Man-Li Chen, Lin Lu, Jie Shi
Exposure to drug-paired cues causes drug memories to be in a destabilized state and interfering with memory reconsolidation can inhibit relapse. Calpain, a calcium-dependent neutral cysteine protease, is involved in synaptic plasticity and the formation of long-term fear memory. However, the role of calpain in the reconsolidation of drug reward memory is still unknown. In the present study, using a conditioned place preference (CPP) model, we found that exposure to drug-paired contextual stimuli induced the activation of calpain and decreased the expression of glutamate receptor interacting protein 1 (GRIP1) in the nucleus accumbens (NAc) core, but not shell, of male rats...
September 13, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28236240/binding-specificity-profiles-from-computational-peptide-screening
#12
Stefan Wallin
The computational peptide screening method is a Monte Carlo-based procedure to systematically characterize the specificity of a peptide-binding site. The method is based on a generalized-ensemble algorithm in which the peptide sequence has become a dynamic variable, i.e., molecular simulations with ordinary conformational moves are enhanced with a type of "mutational" move such that proper statistics are achieved for multiple sequences in a single run. The peptide screening method has two main steps...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28111449/association-of-a-missense-mutation-in-the-positional-candidate-gene-glutamate-receptor-interacting-protein-1-with-backfat-thickness-traits-in-pigs
#13
Jae-Bong Lee, Hee-Bok Park, Chae-Kyoung Yoo, Hee-Sung Kim, In-Cheol Cho, Hyun-Tae Lim
OBJECTIVE: Previously, we reported quantitative trait loci (QTLs) affecting backfat thickness (BFT) traits on pig chromosome 5 (SW1482-SW963) in an F2 intercross population between Landrace and Korean native pigs. The aim of this study was to evaluate glutamate receptor-interacting protein 1 (GRIP1) as a positional candidate gene underlying the QTL affecting BFT traits. METHODS: Genotype and phenotype analyses were performed using the 1,105 F2 progeny. A mixed-effect linear model was used to access association between these single nucleotide polymorphism (SNP) markers and the BFT traits in the F2 intercross population...
August 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/28063882/mice-lacking-grip1-2-show-increased-social-interactions-and-enhanced-phosphorylation-at-glua2-s880
#14
Mei Han, Rebeca Mejias, Shu-Ling Chiu, Rebecca Rose, Abby Adamczyk, Richard Huganir, Tao Wang
Glutamate receptor interacting proteins 1 and 2 (GRIP1/2) play an important role in regulating synaptic trafficking of AMPA receptor 2/3 (GluA2/3) and synaptic strength. Gain-of-function GRIP1 mutations are implicated in social behavioral deficits in autism. To study mechanisms of Grip1/2-mediated AMPA signaling in the regulation of social behaviors, we performed social behavioral testing on neuron-specific Grip1/2-double knockout (DKO) and wild type (WT) mice that are matched for age, sex, and strain background...
March 15, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28029379/characterization-of-nuclear-foci-targeting-of-luman-creb3-recruitment-factor-lrf-crebrf-and-its-potential-role-in-inhibition-of-herpes-simplex-virus-1-replication
#15
Timothy E Audas, Philip W Hardy-Smith, Jenna Penney, Tiegh Taylor, Ray Lu
The recently identified Luman/CREB3-binding partner LRF (Luman/CREB3 recruitment factor) was shown to localize to discrete sub-nuclear foci. Luman is implicated in herpes simplex virus-1 (HSV-1) latency/reactivation and the unfolded protein response (UPR) pathway; therefore, we sought to characterize the formation of the LRF nuclear foci in the context of cellular signaling and HSV-1 replication. Here, we mapped the nuclear foci-targeting sequence to the central region containing the first leucine zipper (a...
December 2016: European Journal of Cell Biology
https://www.readbyqxmd.com/read/27941904/the-role-of-grip1-and-ephrin-b3-in-blood-pressure-control-and-vascular-smooth-muscle-cell-contractility
#16
Yujia Wang, Zenghui Wu, Hongyu Luo, Junzheng Peng, John Raelson, Georg B Ehret, Patricia B Munroe, Ekatherina Stoyanova, Zhao Qin, Guy Cloutier, W Edward Bradley, Tao Wu, Jian-Zhong Shen, Shenjiang Hu, Jiangping Wu
Several erythropoietin-producing hepatocellular receptor B family (EPHB) and their ligands, ephrinBs (EFNBs), are involved in blood pressure regulation in animal models. We selected 528 single nucleotide polymorphisms (SNPs) within the genes of EPHB6, EFNB2, EFNB3 and GRIP1 in the EPH/EFN signalling system to query the International Blood Pressure Consortium dataset. A SNP within the glutamate receptor interacting protein 1 (GRIP1) gene presented a p-value of 0.000389, approaching the critical p-value of 0...
December 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27885724/identification-of-lactoferrin-and-glutamate-receptor-interacting-protein-1-in-bovine-cervical-mucus-a-putative-marker-for-oestrous-detection
#17
W Y Lee, M H Park, K W Kim, H Song, K B Kim, C S Lee, N K Kim, J K Park, B C Yang, K B Oh, G S Im, H J Chung
Accurate detection of oestrus is important for artificial insemination. The aim of this study was to identify oestrous-specific bovine cervical mucus proteins that could be used to determine the optimal time for artificial insemination. Non-oestrous and controlled internal drug release (CIDR)-induced oestrous-stage mucus proteins were purified and subjected to surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, sodium dodecyl sulphate polyacrylamide gel electrophoresis and MALDI-TOF/TOF...
February 2017: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/27631377/glutamate-receptor-interacting-protein-1-mediates-platelet-adhesion-and-thrombus-formation
#18
Kristina L Modjeski, Sara K Ture, David J Field, Scott J Cameron, Craig N Morrell
Thrombosis-associated pathologies, such as myocardial infarction and stroke, are major causes of morbidity and mortality worldwide. Because platelets are necessary for hemostasis and thrombosis, platelet directed therapies must balance inhibiting platelet function with bleeding risk. Glutamate receptor interacting protein 1 (GRIP1) is a large scaffolding protein that localizes and organizes interacting proteins in other cells, such as neurons. We have investigated the role of GRIP1 in platelet function to determine its role as a molecular scaffold in thrombus formation...
2016: PloS One
https://www.readbyqxmd.com/read/27568566/upregulation-of-%C3%AE-3a-drives-homeostatic-plasticity-by-rerouting-ampar-into-the-recycling-endosomal-pathway
#19
Celine C Steinmetz, Vedakumar Tatavarty, Ken Sugino, Yasuyuki Shima, Anne Joseph, Heather Lin, Michael Rutlin, Mary Lambo, Chris M Hempel, Benjamin W Okaty, Suzanne Paradis, Sacha B Nelson, Gina G Turrigiano
Synaptic scaling is a form of homeostatic plasticity driven by transcription-dependent changes in AMPA-type glutamate receptor (AMPAR) trafficking. To uncover the pathways involved, we performed a cell-type-specific screen for transcripts persistently altered during scaling, which identified the μ subunit (μ3A) of the adaptor protein complex AP-3A. Synaptic scaling increased μ3A (but not other AP-3 subunits) in pyramidal neurons and redistributed dendritic μ3A and AMPAR to recycling endosomes (REs). Knockdown of μ3A prevented synaptic scaling and this redistribution, while overexpression (OE) of full-length μ3A or a truncated μ3A that cannot interact with the AP-3A complex was sufficient to drive AMPAR to REs...
September 6, 2016: Cell Reports
https://www.readbyqxmd.com/read/27490364/high-resolution-genomic-scans-reveal-genetic-architecture-controlling-alcohol-preference-in-bidirectionally-selected-rat-model
#20
Chiao-Ling Lo, Amy C Lossie, Tiebing Liang, Yunlong Liu, Xiaoling Xuei, Lawrence Lumeng, Feng C Zhou, William M Muir
Investigations on the influence of nature vs. nurture on Alcoholism (Alcohol Use Disorder) in human have yet to provide a clear view on potential genomic etiologies. To address this issue, we sequenced a replicated animal model system bidirectionally-selected for alcohol preference (AP). This model is uniquely suited to map genetic effects with high reproducibility, and resolution. The origin of the rat lines (an 8-way cross) resulted in small haplotype blocks (HB) with a corresponding high level of resolution...
August 2016: PLoS Genetics
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