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Endophenotypes

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https://www.readbyqxmd.com/read/28530679/polymorphisms-of-the-oxytocin-receptor-gene-and-overeating-the-intermediary-role-of-endophenotypic-risk-factors
#1
C Davis, K Patte, C Zai, J L Kennedy
BACKGROUND/OBJECTIVES: Oxytocin (OXT) is an evolutionarily ancient neuropeptide with strong links to affiliative and prosocial behaviors, and the management of stress. Increases in OXT also tend to decrease food intake, especially of sweet carbohydrates. The social correlates of low OXT levels mesh with the social deficits and stress proneness identified in interpersonal models of overeating, as well as the increased appetite for highly palatable foods typically seen in chronic overeaters...
May 22, 2017: Nutrition & Diabetes
https://www.readbyqxmd.com/read/28529394/positive-emotion-specificity-and-mood-symptoms-in-an-adolescent-outpatient-sample
#2
June Gruber, Anna Van Meter, Kirsten E Gilbert, Eric A Youngstrom, Jennifer Kogos Youngstrom, Norah C Feeny, Robert L Findling
Research on positive emotion disturbance has gained increasing attention, yet it is not clear which specific positive emotions are affected by mood symptoms, particularly during the critical period of adolescence. This is especially pertinent for identifying potential endophenotypic markers associated with mood disorder onset and course. The present study examined self-reported discrete positive and negative emotions in association with clinician-rated manic and depressive mood symptoms in a clinically and demographically diverse group of 401 outpatient adolescents between 11-18 years of age...
June 2017: Cognitive Therapy and Research
https://www.readbyqxmd.com/read/28527063/the-role-of-anti-cgrp-antibodies-in-the-pathophysiology-of-primary-headaches
#3
Piero Barbanti, Cinzia Aurilia, Luisa Fofi, Gabriella Egeo, Patrizia Ferroni
Calcitonin gene-related peptide (CGRP), a potent vasodilator and pain-signaling neuropeptide, is a validated therapeutic target for migraine and cluster headache. Four anti-CGRP monoclonal antibodies (mAbs) have been developed, representing the first specific, mechanism-based, migraine prophylactic treatment. CGRP mAbs demonstrated good efficacy coupled to excellent tolerability and safety in 5 phase II clinical trials. Notably, CGRP mAbs induced complete migraine remission in a patients' subset. To date, more than 20 phase III trials using CGRP mAbs for of episodic and chronic migraine and cluster headache prevention are ongoing...
May 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28525759/modeling-rett-syndrome-using-talen-edited-mecp2-mutant-cynomolgus-monkeys
#4
Yongchang Chen, Juehua Yu, Yuyu Niu, Dongdong Qin, Hailiang Liu, Gang Li, Yingzhou Hu, Jiaojian Wang, Yi Lu, Yu Kang, Yong Jiang, Kunhua Wu, Siguang Li, Jingkuan Wei, Jing He, Junbang Wang, Xiaojing Liu, Yuping Luo, Chenyang Si, Raoxian Bai, Kunshan Zhang, Jie Liu, Shaoyong Huang, Zhenzhen Chen, Shuang Wang, Xiaoying Chen, Xinhua Bao, Qingping Zhang, Fuxing Li, Rui Geng, Aibin Liang, Dinggang Shen, Tianzi Jiang, Xintian Hu, Yuanye Ma, Weizhi Ji, Yi Eve Sun
Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a neurodevelopmental disorder, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene. Male mutant monkeys were embryonic lethal, reiterating that RTT is a disease of females. Through a battery of behavioral analyses, including primate-unique eye-tracking tests, in combination with brain imaging via MRI, we found a series of physiological, behavioral, and structural abnormalities resembling clinical manifestations of RTT...
May 18, 2017: Cell
https://www.readbyqxmd.com/read/28521253/differences-in-cognitive-deficits-in-individuals-with-subthreshold-syndromes-with-and-without-family-history-of-bipolar-disorder
#5
Kangguang Lin, Rui Lu, Kun Chen, Ting Li, Weicong Lu, Jiehua Kong, Guiyun Xu
Little is known about the development of cognitive deficits prior to the official onset of bipolar disorder (BP). The aim of this study was to investigate neurocognitive performance in two early stages of BP. This high-risk design study recruited a group of offspring of parents with BP (n = 58), aged 8-28 years. Based on the subthreshold syndromes, the "unaffected" offspring were further divided into high-risk (HR) and ultra-high-risk (UHR) stages. For comparison, a group of individuals with subthreshold symptoms but without family history of psychiatric disorder (n = 17) and 48 healthy controls (HCs) were included...
May 10, 2017: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/28516424/differing-developmental-trajectories-in-heart-rate-responses-to-speech-stimuli-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#6
Katherine L Perdue, Laura A Edwards, Helen Tager-Flusberg, Charles A Nelson
We investigated heart rate (HR) in infants at 3, 6, 9, and 12 months of age, at high (HRA) and low (LRC) familial risk for ASD, to identify potential endophenotypes of ASD risk related to attentional responses. HR was extracted from functional near-infrared spectroscopy recordings while infants listened to speech stimuli. Longitudinal analysis revealed that HRA infants and males generally had lower baseline HR than LRC infants and females. HRA infants showed decreased HR responses to early trials over development, while LRC infants showed increased responses...
May 17, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28511126/endophenotyping-in-idiopathic-adult-onset-cervical-dystonia
#7
Georg Kägi, Diane Ruge, Florian Brugger, Petra Katschnig, Rafael Sauter, Mirta Fiorio, Michele Tinazzi, John Rothwell, Kailash P Bhatia
OBJECTIVE: Idiopathic adult onset cervical dystonia (IAOCD) is considered to be a partially penetrant autosomal dominant genetic condition. Dystonia may result from genetic and environmental factors. In this view, part of the physiology should be an endophenotype stemming from the genetic background. We assessed the most discriminative test to separate patients with IAOCD and healthy controls for further endophenotyping in non-affected 1st degree relatives. METHODS: We included patients with IAOCD, their 1st degree relatives and healthy controls...
April 23, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28506881/altered-circadian-patterns-of-salivary-cortisol-in-individuals-with-schizophrenia-a-critical-literature-review
#8
Nathalie Coulon, Sylvie Brailly-Tabard, Michel Walter, Sylvie Tordjman
This article focuses on stress vulnerability in schizophrenia through an integrated clinical and biological approach. The objective of this article is to better understand the relationships between vulnerability, stress and schizophrenia. First, the concept of vulnerability is defined and several models of vulnerability in schizophrenia are reviewed. Second, a section is developed on the biology of stress, and more specifically on the stress responses of the hypothalamo-pitutary adrenal (HPA) axis. Then, studies of cortisol circadian rhythms are summarized, suggesting hyper-reactivity of the HPA axis in patients with schizophrenia and high risk individuals for schizophrenia...
May 12, 2017: Journal of Physiology, Paris
https://www.readbyqxmd.com/read/28497380/from-gene-to-behavior-l-type-calcium-channel-mechanisms-underlying-neuropsychiatric-symptoms
#9
REVIEW
Zeeba D Kabir, Arlene Martínez-Rivera, Anjali M Rajadhyaksha
The L-type calcium channels (LTCCs) Cav1.2 and Cav1.3, encoded by the CACNA1C and CACNA1D genes, respectively, are important regulators of calcium influx into cells and are critical for normal brain development and plasticity. In humans, CACNA1C has emerged as one of the most widely reproduced and prominent candidate risk genes for a range of neuropsychiatric disorders, including bipolar disorder (BD), schizophrenia (SCZ), major depressive disorder, autism spectrum disorder, and attention deficit hyperactivity disorder...
May 11, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28494120/posttraumatic-stress-disorder-symptom-severity-is-associated-with-reduced-default-mode-network-connectivity-in-individuals-with-elevated-genetic-risk-for-psychopathology
#10
Danielle R Miller, Mark W Logue, Erika J Wolf, Hannah Maniates, Meghan E Robinson, Jasmeet P Hayes, Annjanette Stone, Steven Schichman, Regina E McGlinchey, William P Milberg, Mark W Miller
BACKGROUND: Accumulating evidence suggests that posttraumatic stress disorder (PTSD) is associated with disrupted default mode network (DMN) connectivity, but findings across studies have not been uniform. Individual differences in relevant genes may account for some of the reported variability in the relationship between DMN connectivity and PTSD. In this study, we investigated this possibility using genome-wide association study (GWAS) derived polygenic risk scores (PRSs) for relevant psychiatric traits...
May 11, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28493391/haplotype-reference-consortium-panel-practical-implications-of-imputations-with-large-reference-panels
#11
Adriana I Iglesias, Sven J van der Lee, Pieter W M Bonnemaijer, René Höhn, Abhishek Nag, Puya Gharahkhani, Anthony P Khawaja, Linda Broer, Paul J Foster, Christopher J Hammond, Pirro G Hysi, Elisabeth M van Leeuwen, Stuart MacGregor, David A Mackey, Johanna Mazur, Stefan Nickels, André G Uitterlinden, Caroline C W Klaver, Najaf Amin, Cornelia M van Duijn
Recently, the Haplotype Reference Consortium (HRC) released a large imputation panel that allows more accurate imputation of genetic variants. In this study, we compared a set of directly assayed common and rare variants from an exome array to imputed genotypes, i.e., 1000 genomes project (1000GP) and HRC. We showed that imputation using the HRC panel improved the concordance between assayed and imputed genotypes at common, and especially, low-frequency variants. Furthermore, we performed a genome-wide association meta-analysis of vertical cup-disc ratio (VCDR), a highly heritable endophenotype of glaucoma, in four cohorts using 1000GP and HRC imputations...
May 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28490392/a-systematic-review-of-the-heritability-of-specific-psychopathic-traits-using-hare-s-two-factor-model-of-psychopathy
#12
Sapna Dhanani, Veena Kumari, Basant K Puri, Ian Treasaden, Susan Young, Piyal Sen
BACKGROUND: There have been no systematic reviews that investigated the heritability of the two-factor model of psychopathy: interpersonal-affective and behavioral. Our review aimed, first, to examine the heritability of general psychopathic traits and, second, if genetic influences were suggested, to determine the heritability of various traits related to the interpersonal-affective and behavioral factors of psychopathy. METHOD: A systematic literature search was conducted using articles from the PsycINFO, Embase, Global Health, Medline, PubMed, Web of Science, and Scopus databases (January of 1980 to December of 2015) in order to identify eligible literature that reported on the heritability of psychopathy-related traits...
May 11, 2017: CNS Spectrums
https://www.readbyqxmd.com/read/28485732/pdxdc1-modulates-prepulse-inhibition-of-acoustic-startle-in-the-mouse
#13
L A Feldcamp, P C Boutros, R Raymond, P J Fletcher, J N Nobrega, A H C Wong
Current antipsychotic medications used to treat schizophrenia all target the dopamine D2 receptor. Although these drugs have serious side effects and limited efficacy, no novel molecular targets for schizophrenia treatment have been successfully translated into new medications. To identify novel potential treatment targets for schizophrenia, we searched for previously unknown molecular modulators of acoustic prepulse inhibition (PPI), a schizophrenia endophenotype, in the mouse. We examined six inbred mouse strains that have a range of PPI, and used microarrays to determine which mRNA levels correlated with PPI across these mouse strains...
May 9, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28485076/response-inhibition-and-interference-control-effects-of-schizophrenia-genetic-risk-and-schizotypy
#14
Ulrich Ettinger, Désirée S Aichert, Nicola Wöstmann, Sandra Dehning, Michael Riedel, Veena Kumari
The ability to inhibit inappropriate responses and suppress irrelevant information is a core feature of executive control. In this study, we provide a detailed analysis of prepotent response inhibition and interference in patients with schizophrenia. To further test the role of genetic factors and subclinical schizophrenia-like traits, we additionally studied clinically unaffected, first-degree relatives of schizophrenia patients and assessed dimensions of schizotypy in both relatives and healthy controls. Inhibition and interference control were assessed using a battery comprising the antisaccade, Stroop, stop signal, go/no-go, flanker, and Simon tasks...
May 8, 2017: Journal of Neuropsychology
https://www.readbyqxmd.com/read/28481032/volitional-saccade-performance-in-a-large-sample-of-patients-with-obsessive-compulsive-disorder-and-unaffected-first-degree-relatives
#15
Katharina Bey, Lisa Kloft, Leonhard Lennertz, Rosa Grützmann, Stephan Heinzel, Christian Kaufmann, Julia Klawohn, Anja Riesel, Inga Meyhöfer, Norbert Kathmann, Michael Wagner
Recent evidence indicates that patients with obsessive-compulsive disorder (OCD) as well as their unaffected first-degree relatives show deficits in the volitional control of saccades, suggesting that volitional saccade performance may constitute an endophenotype of OCD. Here, we aimed to replicate and extend these findings in a large, independent sample. One hundred and fifteen patients with OCD, 103 healthy comparison subjects without a family history of OCD, and 31 unaffected first-degree relatives of OCD patients were examined using structured clinical interviews and performed a volitional saccade task as well as a prosaccade task...
May 8, 2017: Psychophysiology
https://www.readbyqxmd.com/read/28480329/african-american-exome-sequencing-identifies-potential-risk-variants-at-alzheimer-disease-loci
#16
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Jeremy D Burgess, Thuy Nguyen, Yan W Asmann, Daniel J Serie, Steven G Younkin, Mariet Allen, Otto Pedraza, Ranjan Duara, Maria T Greig Custo, Neill R Graff-Radford, Nilüfer Ertekin-Taner
OBJECTIVE: In African Americans, we sought to systematically identify coding Alzheimer disease (AD) risk variants at the previously reported AD genome-wide association study (GWAS) loci genes. METHODS: We identified coding variants within genes at the 20 published AD GWAS loci by whole-exome sequencing of 238 African American participants, validated these in 300 additional participants, and tested their association with AD risk in the combined cohort of 538 and with memory endophenotypes in 319 participants...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28472212/association-of-glaucoma-susceptible-genes-to-regional-circumpapillary-retinal-nerve-fiber-layer-thickness-and-visual-field-defects
#17
Munemitsu Yoshikawa, Hideo Nakanishi, Kenji Yamashiro, Masahiro Miyake, Tadamichi Akagi, Norimoto Gotoh, Hanako O Ikeda, Kenji Suda, Hiroshi Yamada, Tomoko Hasegawa, Yuto Iida, Ryo Yamada, Fumihiko Matsuda, Nagahisa Yoshimura
Purpose: To examine the associations of the earlier reported glaucoma-related genes to the regional circumpapillary retinal nerve fiber layer thicknesses (cpRNFLTs) and corresponding visual field defects. Methods: We studied 756 patients with primary open-angle glaucoma (POAG) and 3094 normal controls. Each participant was genotyped for nine single nucleotide polymorphisms (SNPs) of four glaucoma-susceptible genes: the CDKN2B(AS1), TMCO1, CAV1/CAV2, and SIX1/SIX6 genes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28442992/genetic-deletion-of-akt3-induces-an-endophenotype-reminiscent-of-psychiatric-manifestations-in-mice
#18
Yan Bergeron, Geneviève Bureau, Marie-Élaine Laurier-Laurin, Eric Asselin, Guy Massicotte, Michel Cyr
The protein kinase B (PKB/Akt), found in three distinctive isoforms (PKBα/Akt1, PKBβ/Akt2, PKBγ/Akt3), is implicated in a variety of cellular processes such as cell development, growth and survival. Although Akt3 is the most expressed isoform in the brain, its role in cerebral functions is still unclear. In the present study, we investigated the behavioral, electrophysiological and biochemical consequences of Akt3 deletion in mice. Motor abilities, spatial navigation, recognition memory and LTP are intact in the Akt3 knockout (KO) mice...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28440866/a-prospective-comparison-of-how-the-level-of-response-to-alcohol-and-impulsivity-relate-to-future-dsm-iv-alcohol-problems-in-the-coga-youth-panel
#19
Marc A Schuckit, Tom L Smith, George Danko, Robert Anthenelli, Lara Schoen, Mari Kawamura, John Kramer, Danielle M Dick, Zoe Neale, Samuel Kuperman, Vivia McCutcheon, Andrey P Anokhin, Victor Hesselbrock, Michie Hesselbrock, Kathleen Bucholz
BACKGROUND: Alcohol problems reflect both environmental and genetic characteristics that often operate through endophenotypes like low levels of response (low LRs) to alcohol and higher impulsivity. Relationships of these preexisting characteristics to alcohol problems have been studied, but few analyses have included both low LR and impulsivity in the same model. METHODS: We extracted prospective data from 1,028 participants in the Prospective Youth Sample of the Collaborative Study for the Genetics of Alcoholism (COGA)...
April 25, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28436230/time-and-relative-dimensions-in-syndromology-towards-endophenotypes-in-neurology-psychiatry-and-in-between
#20
Jeffrey Cl Looi, Alexander F Santillo
No abstract text is available yet for this article.
April 1, 2017: Australian and New Zealand Journal of Psychiatry
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