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https://www.readbyqxmd.com/read/28214999/e6-associated-protein-dependent-estrogen-receptor-regulation-of-protein-kinase-a-regulatory-subunit-r2a-expression-in-neuroblastoma
#1
Jean-Pierre Obeid, Youssef H Zeidan, Nawal Zafar, Jimmy El Hokayem
E6ap is a known transcriptional coregulator for estrogen receptor alpha (Er, Erα) in the presence of estrogen. Protein kinase A (PKA) contains two regulatory subunits derived from four genes. Recent evidence demonstrates that PKA regulates E6ap activity. Data generated in our lab indicated estrogen dependent regulation of Pkar2a levels. Our project sets to investigate a possible feedback mechanism constituting of Erα and E6ap transcriptional regulation of Pkar2a expression. Western blot evaluated protein regulation correlations with E2 in mouse neuroblastoma lines...
February 18, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28209179/the-social-brain-network-in-22q11-2-deletion-syndrome-a-diffusion-tensor-imaging-study
#2
Amy K Olszewski, Zora Kikinis, Christie S Gonzalez, Ioana L Coman, Nikolaos Makris, Xue Gong, Yogesh Rathi, Anni Zhu, Kevin M Antshel, Wanda Fremont, Marek R Kubicki, Sylvain Bouix, Martha E Shenton, Wendy R Kates
BACKGROUND: Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Both individuals with 22q11.2DS and those with schizophrenia present with social cognitive deficits, which are putatively subserved by a network of brain regions that are involved in the processing of social cognitive information. This study used two-tensor tractography to examine the white matter tracts believed to underlie the social brain network in a group of 57 young adults with 22q11...
February 16, 2017: Behavioral and Brain Functions: BBF
https://www.readbyqxmd.com/read/28199203/neurogenetics-of-acute-and-chronic-opiate-opioid-abstinence-treating-symptoms-and-the-cause
#3
Kenneth Blum, Mark S Gold, William Jacobs, William Vaughn McCall, Marcelo Febo, David Baron, Kristina Dushaj, Zsolt Demetrovics, Rajendra D Badgaiyan
This review begins with a comprehensive history of opioid dependence and treatment in the United States. The focus is an evidence-based treatment model for opioid/opiate dependent individuals. The role of reward genetic polymorphisms and the epigenetic modifications that lead to vulnerability to use and misuse of opiates/opioid to treat pain are reviewed. The neurochemical mechanisms of acute opiate withdrawal and opiate/opioid reward mechanisms are explored with a goal of identifying specific treatment targets...
March 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/28167838/glrb-allelic-variation-associated-with-agoraphobic-cognitions-increased-startle-response-and-fear-network-activation-a-potential-neurogenetic-pathway-to-panic-disorder
#4
J Deckert, H Weber, C Villmann, T B Lonsdorf, J Richter, M Andreatta, A Arias-Vasquez, L Hommers, L Kent, C Schartner, S Cichon, C Wolf, N Schaefer, C R von Collenberg, B Wachter, R Blum, D Schümann, R Scharfenort, J Schumacher, A J Forstner, C Baumann, M A Schiele, S Notzon, P Zwanzger, J G E Janzing, T Galesloot, L A Kiemeney, A Gajewska, E Glotzbach-Schoon, A Mühlberger, G Alpers, T Fydrich, L Fehm, A L Gerlach, T Kircher, T Lang, A Ströhle, V Arolt, H-U Wittchen, R Kalisch, C Büchel, A Hamm, M M Nöthen, M Romanos, K Domschke, P Pauli, A Reif
The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3...
February 7, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28139055/associations-between-neurodevelopmental-genes-neuroanatomy-and-ultra-high-risk-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#5
Carlie A Thompson, Jason Karelis, Frank A Middleton, Karen Gentile, Ioana L Coman, Petya D Radoeva, Rashi Mehta, Wanda P Fremont, Kevin M Antshel, Stephen V Faraone, Wendy R Kates
22q11.2 deletion syndrome is a neurogenetic disorder resulting in the deletion of over 40 genes. Up to 40% of individuals with 22q11.2DS develop schizophrenia, though little is known about the underlying mechanisms. We hypothesized that allelic variation in functional polymorphisms in seven genes unique to the deleted region would affect lobar brain volumes, which would predict risk for psychosis in youth with 22q11.2DS. Participants included 56 individuals (30 males) with 22q11.2DS. Anatomic MR images were collected and processed using Freesurfer...
January 31, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28135565/dissecting-clinical-heterogeneity-in-neurofibromatosis-type-1
#6
Courtney L Monroe, Sonika Dahiya, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common neurogenetic disorder in which affected children and adults are predisposed to the development of benign and malignant nervous system tumors. Caused by a germline mutation in the NF1 tumor suppressor gene, individuals with NF1 are prone to optic gliomas, malignant gliomas, neurofibromas, and malignant peripheral nerve sheath tumors, as well as behavioral, cognitive, motor, bone, cardiac, and pigmentary abnormalities. Although NF1 is a classic monogenic syndrome, the clinical features of the disorder and their impact on patient morbidity are variable, even within individuals who bear the same germline NF1 gene mutation...
January 24, 2017: Annual Review of Pathology
https://www.readbyqxmd.com/read/28119110/attitudes-toward-prenatal-genetic-testing-and-therapeutic-termination-of-pregnancy-among-parents-of-offspring-with-prader-willi-syndrome
#7
REVIEW
Noa Even-Zohar Gross, Talia Geva-Eldar, Yehuda Pollak, Harry J Hirsch, Itai Gross, Varda Gross-Tsur
INTRODUCTION: Prenatal diagnosis (PND) raises ethical dilemmas such as the option of termination of pregnancy (TOP) in cases with severe outcome. Prader-Willi Syndrome (PWS), a complex neurogenetic syndrome with high morbidity and mortality throughout life. Recently, a unique prenatal phenotype was reported and TOP becomes a possibility. OBJECTIVE: To explore factors influencing the attitudes of parents of PWS children toward PND and TOP concerning a hypothetical pregnancy with a PWS fetus...
January 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28103467/-investigation-of-genetic-etiology-in-neurodegenerative-dementias-recommendations-from-the-centro-hospitalar-s%C3%A3-o-jo%C3%A3-o-neurogenetics-group
#8
João Massano, Miguel Leão, Carolina Garrett
In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic...
October 2016: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28075485/culturing-and-neuronal-differentiation-of-human-dental-pulp-stem-cells
#9
Sarita Goorha, Lawrence T Reiter
A major issue in studying human neurogenetic disorders, especially rare syndromes affecting the nervous system, is the ability to grow neuronal cultures that accurately represent these disorders for analysis. Although there has been some success in generating induced pluripotent stem (iPS) cells from both skin and blood, there are still limitations to the collection and production of iPS cells from these biospecimens. We have had significant success in collecting and growing human dental pulp stem (DPS) cells from exfoliated teeth sent to our laboratory by the parents of children with a variety of rare neurogenetic syndromes...
January 11, 2017: Current Protocols in Human Genetics
https://www.readbyqxmd.com/read/28057826/the-neurogenetics-of-group-behavior-in-drosophila-melanogaster
#10
REVIEW
Pavan Ramdya, Jonathan Schneider, Joel D Levine
Organisms rarely act in isolation. Their decisions and movements are often heavily influenced by direct and indirect interactions with conspecifics. For example, we each represent a single node within a social network of family and friends, and an even larger network of strangers. This group membership can affect our opinions and actions. Similarly, when in a crowd, we often coordinate our movements with others like fish in a school, or birds in a flock. Contributions of the group to individual behaviors are observed across a wide variety of taxa but their biological mechanisms remain largely unknown...
January 1, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28045594/human-hprt1-gene-and-the-lesch-nyhan-disease-substitution-of-alanine-for-glycine-and-inversely-in-the-hgprt-enzyme-protein
#11
Khue Vu Nguyen, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report three novel independent mutations in the coding region of the HPRT1 gene from genomic DNA of (a) a carrier sister of two male patients with LND: c.569G>C, p.G190A in exon 8; and (b) two LND affected male patients unrelated to her who had two mutations: c.648delC, p.Y216X, and c.653C>G, p.A218G in exon 9...
February 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28045463/neurogenetics-of-developmental-dyslexia-from-genes-to-behavior-through-brain-neuroimaging-and-cognitive-and-sensorial-mechanisms
#12
REVIEW
S Mascheretti, A De Luca, V Trezzi, D Peruzzo, A Nordio, C Marino, F Arrigoni
Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results...
January 3, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28024705/common-variation-in-the-gtf2i-gene-a-promising-neurogenetic-mechanism-for-affiliative-drive-and-social-anxiety
#13
Janina I Schweiger, Andreas Meyer-Lindenberg
No abstract text is available yet for this article.
February 1, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/28017471/the-antisense-transcript-smn-as1-regulates-smn-expression-and-is-a-novel-therapeutic-target-for-spinal-muscular-atrophy
#14
Constantin d'Ydewalle, Daniel M Ramos, Noah J Pyles, Shi-Yan Ng, Mariusz Gorz, Celeste M Pilato, Karen Ling, Lingling Kong, Amanda J Ward, Lee L Rubin, Frank Rigo, C Frank Bennett, Charlotte J Sumner
The neuromuscular disorder spinal muscular atrophy (SMA), the most common inherited killer of infants, is caused by insufficient expression of survival motor neuron (SMN) protein. SMA therapeutics development efforts have focused on identifying strategies to increase SMN expression. We identified a long non-coding RNA (lncRNA) that arises from the antisense strand of SMN, SMN-AS1, which is enriched in neurons and transcriptionally represses SMN expression by recruiting the epigenetic Polycomb repressive complex-2...
January 4, 2017: Neuron
https://www.readbyqxmd.com/read/28003435/genetic-compendium-of-1511-human-brains-available-through-the-uk-medical-research-council-brain-banks-network-resource
#15
Michael J Keogh, Wei Wei, Ian Wilson, Jon Coxhead, Sarah Ryan, Sara Rollinson, Helen Griffin, Marzena Kurzawa-Akanbi, Mauro Santibanez-Koref, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, James W Ironside, Patrick F Chinnery
Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368)...
January 2017: Genome Research
https://www.readbyqxmd.com/read/27986596/effects-of-the-synthetic-neurosteroid-ganaxolone-on-seizure-activity-and-behavioral-deficits-in-an-angelman-syndrome-mouse-model
#16
Stephanie L Ciarlone, Xinming Wang, Michael A Rogawski, Edwin J Weeber
Angelman syndrome (AS) is a rare neurogenetic disorder characterized by severe developmental delay, motor impairments, and epilepsy. GABAergic dysfunction is believed to contribute to many of the phenotypic deficits seen in AS. We hypothesized that restoration of inhibitory tone mediated by extrasynaptic GABAA receptors could provide therapeutic benefit. Here, we report that ganaxolone, a synthetic neurosteroid that acts as a positive allosteric modulator of synaptic and extrasynaptic GABAA receptors, was anxiolytic, anticonvulsant, and improved motor deficits in the Ube3a-deficient mouse model of AS when administered by implanted mini-pump for 3 days or 4 weeks...
December 13, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27976757/efficient-and-versatile-crispr-engineering-of-human-neurons-in-culture-to-model-neurological-disorders
#17
Ruth R Shah, Justyna Cholewa-Waclaw, Faith C J Davies, Katie M Paton, Ronan Chaligne, Edith Heard, Catherine M Abbott, Adrian P Bird
The recent identification of multiple new genetic causes of neurological disorders highlights the need for model systems that give experimental access to the underlying biology. In particular, the ability to couple disease-causing mutations with human neuronal differentiation systems would be beneficial. Gene targeting is a well-known approach for dissecting gene function, but low rates of homologous recombination in somatic cells (including neuronal cells) have traditionally impeded the development of robust cellular models of neurological disorders...
November 15, 2016: Wellcome Open Res
https://www.readbyqxmd.com/read/27956815/neurocognitive-functions-and-behavior-in-joubert-syndrome
#18
COMMENT
Andrea Poretti, Gwendolyn J Gerner
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
December 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27918911/cortical-amygdala-volumetric-ratios-predict-onset-of-symptoms-of-psychosis-in-22q11-2-deletion-syndrome
#19
David Berhanu, Leah M Mattiaccio, Kevin M Antshel, Wanda Fremont, Frank A Middleton, Wendy R Kates
Dysfunction of cortical circuitry involving prefrontal cortex, cingulate gyrus and mesial temporal lobe has been implicated in the pathophysiology of psychotic symptoms. 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that comports a 25-fold increased risk of developing psychosis. Morphological changes in the neuroanatomy of this syndrome may represent a biological risk factor for the development of psychosis. The present study explored ratios between cortical volumes and the amygdala. We also explored relationships between these ratios and the eventual development of psychosis in youth with 22q11DS...
January 30, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/27898583/genetic-control-of-postnatal-human-brain-growth
#20
Laura I van Dyck, Eric M Morrow
PURPOSE OF REVIEW: Studies investigating postnatal brain growth disorders inform the biology underlying the development of human brain circuitry. This research is becoming increasingly important for the diagnosis and treatment of childhood neurodevelopmental disorders, including autism and related disorders. Here, we review recent research on typical and abnormal postnatal brain growth and examine potential biological mechanisms. RECENT FINDINGS: Clinically, brain growth disorders are heralded by diverging head size for a given age and sex, but are more precisely characterized by brain imaging, post-mortem analysis, and animal model studies...
February 2017: Current Opinion in Neurology
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