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https://www.readbyqxmd.com/read/28434657/corrigendum-to-human-grin2b-variants-in-neurodevelopmental-disorders-j-pharmacol-sci-132-2-115-121
#1
Chun Hu, Wenjuan Chen, Scott J Myers, Hongjie Yuan, Stephen F Traynelis
No abstract text is available yet for this article.
April 12, 2017: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#2
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background.: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods.: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28380057/specific-behavioral-and-cellular-adaptations-induced-by-chronic-morphine-are-reduced-by-dietary-omega-3-polyunsaturated-fatty-acids
#3
Joshua Hakimian, Ani Minasyan, Lily Zhe-Ying, Mariana Loureiro, Austin Beltrand, Camille Johnston, Alexander Vorperian, Nicole Romaneschi, Waleed Atallah, Fernando Gomez-Pinilla, Wendy Walwyn
Opiates, one of the oldest known drugs, are the benchmark for treating pain. Regular opioid exposure also induces euphoria making these compounds addictive and often misused, as shown by the current epidemic of opioid abuse and overdose mortalities. In addition to the effect of opioids on their cognate receptors and signaling cascades, these compounds also induce multiple adaptations at cellular and behavioral levels. As omega-3 polyunsaturated fatty acids (n-3 PUFAs) play a ubiquitous role in behavioral and cellular processes, we proposed that supplemental n-3 PUFAs, enriched in docosahexanoic acid (DHA), could offset these adaptations following chronic opioid exposure...
2017: PloS One
https://www.readbyqxmd.com/read/28377535/grin2b-encephalopathy-novel-findings-on-phenotype-variant-clustering-functional-consequences-and-treatment-aspects
#4
Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke
BACKGROUND: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. METHODS: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care...
April 4, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28373010/ecdysterones-from-rhaponticum-carthamoides-willd-iljin-reduce-hippocampal-excitotoxic-cell-loss-and-upregulate-mtor-signaling-in-rats
#5
Jiming Wu, Le Gao, Lei Shang, Guihua Wang, Nana Wei, Tiantian Chu, Suping Chen, Yujun Zhang, Jian Huang, Jinhui Wang, Ruichao Lin
Glutamate-induced excitotoxicity is a key pathological mechanism in many neurological disease states. Ecdysterones derived from Rhaponticum carthamoides (Willd.) Iljin (RCI) have been shown to alleviate glutamate-induced neuronal damage; although their mechanism of action is unclear, some data suggest that they enhance signaling in the mechanistic target of rapamycin (mTOR) signaling pathway. This study sought to elucidate the mechanisms underlying ecdysterone-mediated neuroprotection. We used in silico target prediction and simulation methods to identify putative ecdysterone binding targets, and to specifically identify those that represent nodes where several neurodegenerative diseases converge...
March 31, 2017: Fitoterapia
https://www.readbyqxmd.com/read/28271248/network-reconstruction-reveals-that-valproic-acid-activates-neurogenic-transcriptional-programs-in-adult-brain-following-traumatic-injury
#6
Gerald A Higgins, Patrick Georgoff, Vahagn Nikolian, Ari Allyn-Feuer, Brian Pauls, Richard Higgins, Brian D Athey, Hasan E Alam
OBJECTIVES: To determine the mechanism of action of valproic acid (VPA) in the adult central nervous system (CNS) following traumatic brain injury (TBI) and hemorrhagic shock (HS). METHODS: Data were analyzed from different sources, including experiments in a porcine model, data from postmortem human brain, published studies, public and commercial databases. RESULTS: The transcriptional program in the CNS following TBI, HS, and VPA treatment includes activation of regulatory pathways that enhance neurogenesis and suppress gliogenesis...
March 7, 2017: Pharmaceutical Research
https://www.readbyqxmd.com/read/28258362/the-effects-of-grin2b-and-drd4-gene-variants-on-local-functional-connectivity-in-attention-deficit-hyperactivity-disorder
#7
Johanna Inhyang Kim, Jae Hyun Yoo, Dohyun Kim, Bumseok Jeong, Bung-Nyun Kim
Based on the interplay between dopaminergic and glutamatergic systems, N-Methyl-D-Asparate (NMDA) receptor genes are thought to be involved in the pathophysiology of ADHD. However, the phenotypical correlates of brain functions associated with NMDA receptor genes and dopamine receptor genes in ADHD are yet to be investigated. We examined the diagnosis, genotype and the diagnosis-genotype interaction effects of GRIN2B and DRD4 variants on the local functional connectivity (by using the mean of static regional homogeneity (ReHo) and the mean and standard deviation (SD) of dynamic ReHo) in 67 ADHD subjects and 44 controls (aged 6-17 years)...
March 3, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28252572/pharmacogenetics-of-ketamine-induced-emergence-phenomena-a-pilot-study
#8
Edwin N Aroke, Sybil L Crawford, Jennifer R Dungan
BACKGROUND: Up to 55% of patients who are administered ketamine experience an emergence phenomena (EP) that closely mimics schizophrenia and increases their risk of injury; however, to date, no studies have investigated genetic association of ketamine-induced EP in healthy patients. OBJECTIVES: The aim of the study was to investigate the feasibility and sample sizes required to explore the relationship between CYP2B6*6 and GRIN2B single-nucleotide polymorphisms and ketamine-induced EP...
March 2017: Nursing Research
https://www.readbyqxmd.com/read/28246883/novel-linkage-disequilibrium-clustering-algorithm-identifies-new-lupus-genes-on-meta-analysis-of-gwas-datasets
#9
Mohammad Saeed
Systemic lupus erythematosus (SLE) is a complex disorder. Genetic association studies of complex disorders suffer from the following three major issues: phenotypic heterogeneity, false positive (type I error), and false negative (type II error) results. Hence, genes with low to moderate effects are missed in standard analyses, especially after statistical corrections. OASIS is a novel linkage disequilibrium clustering algorithm that can potentially address false positives and negatives in genome-wide association studies (GWAS) of complex disorders such as SLE...
February 28, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28041965/analysis-of-gene-expression-in-ca-2-dependent-activator-protein-for-secretion-2-cadps2-knockout-cerebellum-using-genechip-and-kegg-pathways
#10
Tetsushi Sadakata, Yo Shinoda, Yasuki Ishizaki, Teiichi Furuichi
In the mouse cerebellum, Ca(2+)-dependent activator protein for secretion 2 (CADPS2, CAPS2) is involved in regulated secretion from dense-core vesicles (DCVs), which contain neuropeptides including brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3). Capds2 knockout (KO) mice show impaired cerebellar development in addition to autistic-like behavioral phenotypes. To understand the molecular impact caused by loss of Capds2, we analyzed gene expression profiles in the Capds2 KO cerebellum using a GeneChip microarray and the KEGG Pathway database...
February 3, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/27983596/estrogenic-endocrine-disrupting-chemicals-influencing-nrf1-regulated-gene-networks-in-the-development-of-complex-human-brain-diseases
#11
REVIEW
Mark Preciados, Changwon Yoo, Deodutta Roy
During the development of an individual from a single cell to prenatal stages to adolescence to adulthood and through the complete life span, humans are exposed to countless environmental and stochastic factors, including estrogenic endocrine disrupting chemicals. Brain cells and neural circuits are likely to be influenced by estrogenic endocrine disruptors (EEDs) because they strongly dependent on estrogens. In this review, we discuss both environmental, epidemiological, and experimental evidence on brain health with exposure to oral contraceptives, hormonal therapy, and EEDs such as bisphenol-A (BPA), polychlorinated biphenyls (PCBs), phthalates, and metalloestrogens, such as, arsenic, cadmium, and manganese...
December 13, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27871902/the-effects-of-long-term-estradiol-treatment-on-social-behavior-and-gene-expression-in-adult-female-rats
#12
Alexandra N Garcia, Kelsey Bezner, Christina Depena, Weiling Yin, Andrea C Gore
This study tested the effects of long-term estradiol (E2) replacement on social behavior and gene expression in brain nuclei involved in the regulation of these social behaviors in adult female rats. We developed an ultrasonic vocalization (USV) test and a sociability test to examine communications, social interactions, and social preference, using young adult female cagemates. All rats were ovariectomized (OVX) and implanted with a Silastic capsule containing E2 or vehicle, and housed in same-treatment pairs for a 3-month period...
January 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/27818011/human-grin2b-variants-in-neurodevelopmental-disorders
#13
REVIEW
Chun Hu, Wenjuan Chen, Scott J Myers, Hongjie Yuan, Stephen F Traynelis
The development of whole exome/genome sequencing technologies has given rise to an unprecedented volume of data linking patient genomic variability to brain disorder phenotypes. A surprising number of variants have been found in the N-methyl-d-aspartate receptor (NMDAR) gene family, with the GRIN2B gene encoding the GluN2B subunit being implicated in many cases of neurodevelopmental disorders, which are psychiatric conditions originating in childhood and include language, motor, and learning disorders, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), developmental delay, epilepsy, and schizophrenia...
October 2016: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/27780721/differential-effect-of-chronic-stress-on-mouse-hippocampal-memory-and-affective-behavior-role-of-major-ovarian-hormones
#14
Bhanu Chandra Karisetty, Swati Maitra, Abhipradnya Bipin Wahul, Anusha Musalamadugu, Nitin Khandelwal, Sumasri Guntupalli, Ramya Garikapati, Thatiparthi Jhansyrani, Arvind Kumar, Sumana Chakravarty
Molecular mechanisms of depression-like pathophysiology in female rodent models are less reported compared to males, despite its higher prevalence in human females. Moreover, the stress-response in brain circuitries including reward and cognition circuitries varies with age or hormonal status of the females. So, to understand the stress-induced mood and cognitive disorders in intact females (with ovaries) and ovariectomized (OVX) females, we studied changes in mouse hippocampus, a functionally heterogeneous neural structure involved in both affective and cognitive behaviors...
October 22, 2016: Behavioural Brain Research
https://www.readbyqxmd.com/read/27664962/n-methyl-d-aspartate-receptor-expression-patterns-in-the-human-fetal-cerebral-cortex
#15
Inseyah Bagasrawala, Fani Memi, Nevena V Radonjić, Nada Zecevic
N-methyl d-aspartate receptors (NMDARs), a subtype of glutamate receptor, have important functional roles in cellular activity and neuronal development. They are well-studied in rodent and adult human brains, but limited information is available about their distribution in the human fetal cerebral cortex. Here we show that 3 NMDAR subunits, NR1, NR2A, and NR2B, are expressed in the human cerebral cortex during the second trimester of gestation, a period of intense neurogenesis and synaptogenesis. With increasing fetal age, expression of the NMDAR-encoding genes Grin1 (NR1) and Grin2a (NR2A) increased while Grin2b (NR2B) expression decreased...
September 24, 2016: Cerebral Cortex
https://www.readbyqxmd.com/read/27650969/chromosomal-microarray-testing-in-adults-with-intellectual-disability-presenting-with-comorbid-psychiatric-disorders
#16
Kate Wolfe, André Strydom, Deborah Morrogh, Jennifer Carter, Peter Cutajar, Mo Eyeoyibo, Angela Hassiotis, Jane McCarthy, Raja Mukherjee, Dimitrios Paschos, Nagarajan Perumal, Stephen Read, Rohit Shankar, Saif Sharif, Suchithra Thirulokachandran, Johan H Thygesen, Christine Patch, Caroline Ogilvie, Frances Flinter, Andrew McQuillin, Nick Bass
Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27624150/association-of-the-grin2b-rs2284411-polymorphism-with-methylphenidate-response-in-attention-deficit-hyperactivity-disorder
#17
Johanna I Kim, Jae-Won Kim, Jong-Eun Park, Subin Park, Soon-Beom Hong, Doug Hyun Han, Jae Hoon Cheong, Jae-Won Choi, Sumin Lee, Bung-Nyun Kim
OBJECTIVE: We investigated the possible association between two NMDA subunit gene polymorphisms (GRIN2B rs2284411 and GRIN2A rs2229193) and treatment response to methylphenidate (MPH) in attention-deficit/hyperactivity disorder (ADHD). METHODS: A total of 75 ADHD patients aged 6-17 years underwent 6 months of MPH administration. Treatment response was defined by changes in scores of the ADHD-IV Rating Scale (ADHD-RS), clinician-rated Clinical Global Impression-Improvement (CGI-I), and Continuous Performance Test (CPT)...
September 13, 2016: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/27623191/pathological-gambling-in-parkinson-s-disease-what-are-the-risk-factors-and-what-is-the-role-of-impulsivity
#18
REVIEW
Petra Heiden, Andreas Heinz, Nina Romanczuk-Seiferth
The incidence of pathological gambling in Parkinson's patients is significantly greater than in the general population. A correlation has been observed between dopamine agonist medication and the development of pathological gambling. However, scientists conjecture that the affected patients have underlying risk factors. Studies analysing Parkinson's patients have detected that patients who developed pathological gambling are younger, score higher on novelty-seeking tests, are more impulsive and are more likely to have a personal or family history of alcohol addiction...
January 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/27616045/mutation-screening-of-grin2b-in-schizophrenia-and-autism-spectrum-disorder-in-a-japanese-population
#19
Yuto Takasaki, Takayoshi Koide, Chenyao Wang, Hiroki Kimura, Jingrui Xing, Itaru Kushima, Kanako Ishizuka, Daisuke Mori, Mariko Sekiguchi, Masashi Ikeda, Miki Aizawa, Naoko Tsurumaru, Yoshimi Iwayama, Akira Yoshimi, Yuko Arioka, Mami Yoshida, Hiromi Noma, Tomoko Oya-Ito, Yukako Nakamura, Shohko Kunimoto, Branko Aleksic, Yota Uno, Takashi Okada, Hiroshi Ujike, Jun Egawa, Hitoshi Kuwabara, Toshiyuki Someya, Takeo Yoshikawa, Nakao Iwata, Norio Ozaki
N-methyl-d-aspartate receptors (NMDARs) play a critical role in excitatory synaptic transmission and plasticity in the central nervous systems. Recent genetics studies in schizophrenia (SCZ) show that SCZ is susceptible to NMDARs and the NMDAR signaling complex. In autism spectrum disorder (ASD), several studies report dysregulation of NMDARs as a risk factor for ASD. To further examine the association between NMDARs and SCZ/ASD development, we conducted a mutation screening study of GRIN2B which encodes NR2B subunit of NMDARs, to identify rare mutations that potentially cause diseases, in SCZ and ASD patients (n = 574 and 152, respectively)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27605359/further-evidence-for-grin2b-mutation-as-the-cause-of-severe-epileptic-encephalopathy
#20
Robert Smigiel, Grazyna Kostrzewa, Joanna Kosinska, Agnieszka Pollak, Piotr Stawinski, Elzbieta Szmida, Michal Bloch, Krystyna Szymanska, Pawel Karpinski, Maria M Sasiadek, Rafal Ploski
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or severe sub-clinical epileptiform activity are accompanied by impairment of motor and cognitive functions. Mutations in several genes including ion channels and other genes whose function is not completely understood have been associated to some EE. In this report, we provide a detailed clinical description of a sporadic male patient with early-onset epilepsy and epileptic encephalopathy in whom we performed complete exome sequencing (WES) and identified a GRIN2B mutation...
December 2016: American Journal of Medical Genetics. Part A
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