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https://www.readbyqxmd.com/read/28224622/slc2a3-single-nucleotide-polymorphism-and-duplication-influence-cognitive-processing-and-population-specific-risk-for-attention-deficit-hyperactivity-disorder
#1
Sören Merker, Andreas Reif, Georg C Ziegler, Heike Weber, Ute Mayer, Ann-Christine Ehlis, Annette Conzelmann, Stefan Johansson, Clemens Müller-Reible, Indrajit Nanda, Thomas Haaf, Reinhard Ullmann, Marcel Romanos, Andreas J Fallgatter, Paul Pauli, Tatyana Strekalova, Charline Jansch, Alejandro Arias Vasquez, Jan Haavik, Marta Ribasés, Josep Antoni Ramos-Quiroga, Jan K Buitelaar, Barbara Franke, Klaus-Peter Lesch
BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of SLC2A3, encoding glucose transporter-3 (GLUT3). GLUT3 plays a critical role in cerebral glucose metabolism, providing energy for the activity of neurons, which, in turn, moderates the excitatory-inhibitory balance impacting both brain development and activity-dependent neural plasticity...
February 22, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28224345/electrophysiological-endophenotypes-and-the-error-related-negativity-ern-in-autism-spectrum-disorder-a-family-study
#2
Ann Clawson, Mikle South, Scott A Baldwin, Michael J Larson
We examined the error-related negativity (ERN) as an endophenotype of ASD by comparing the ERN in families of ASD probands to control families. We hypothesized that ASD probands and families would display reduced-amplitude ERN relative to controls. Participants included 148 individuals within 39 families consisting of a mother, father, sibling, and proband. Robust ANOVAs revealed non-significant differences in ERN amplitude and behavioral performance among ASD probands relative to control youth. In subsequent multiple regression analyses group and kinship (proband, sibling, mother, father) did not significantly predict ΔERN (error minus correct ERN) or behavioral performance...
February 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28222097/a-genome-wide-association-study-identifies-a-lncrna-as-risk-factor-for-pathological-inflammatory-responses-in-leprosy
#3
Vinicius M Fava, Jeremy Manry, Aurélie Cobat, Marianna Orlova, Nguyen Van Thuc, Milton O Moraes, Carolinne Sales-Marques, Mariane M A Stefani, Ana Carla P Latini, Andrea F Belone, Vu Hong Thai, Laurent Abel, Alexandre Alcaïs, Erwin Schurr
Leprosy Type-1 Reactions (T1Rs) are pathological inflammatory responses that afflict a sub-group of leprosy patients and result in peripheral nerve damage. Here, we employed a family-based GWAS in 221 families with 229 T1R-affect offspring with stepwise replication to identify risk factors for T1R. We discovered, replicated and validated T1R-specific associations with SNPs located in chromosome region 10p21.2. Combined analysis across the three independent samples resulted in strong evidence of association of rs1875147 with T1R (p = 4...
February 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28220044/pregnenolone-blocks-cannabinoid-induced-acute-psychotic-like-states-in-mice
#4
A Busquets-Garcia, E Soria-Gómez, B Redon, Y Mackenbach, M Vallée, F Chaouloff, M Varilh, G Ferreira, P-V Piazza, G Marsicano
Cannabis-induced acute psychotic-like states (CIAPS) represent a growing health issue, but their underlying neurobiological mechanisms are poorly understood. The use of antipsychotics and benzodiazepines against CIAPS is limited by side effects and/or by their ability to tackle only certain aspects of psychosis. Thus, safer wide-spectrum treatments are currently needed. Although the blockade of cannabinoid type-1 receptor (CB1) had been suggested as a therapeutical means against CIAPS, the use of orthosteric CB1 receptor full antagonists is strongly limited by undesired side effects and low efficacy...
February 21, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28219813/an-adverse-early-life-environment-can-enhance-stress-resilience-in-adulthood
#5
Sara Santarelli, Christoph Zimmermann, Georgia Kalideris, Sylvie L Lesuis, Janine Arloth, Andrés Uribe, Carine Dournes, Georgia Balsevich, Jakob Hartmann, Mercè Masana, Elisabeth B Binder, Dietmar Spengler, Mathias V Schmidt
Chronic stress is a major risk factor for depression. Interestingly, not all individuals develop psychopathology after chronic stress exposure. In contrast to the prevailing view that stress effects are cumulative and increase stress vulnerability throughout life, the match/mismatch hypothesis of psychiatric disorders. The match/mismatch hypothesis proposes that individuals who experience moderate levels of early life psychosocial stress can acquire resilience to renewed stress exposure later in life. Here, we have tested this hypothesis by comparing the developmental effects of 2 opposite early life conditions, when followed by 2 opposite adult environments...
February 7, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28215470/sex-versus-gender-differences-in-schizophrenia-the-case-for-normal-personality-differences
#6
Richard Lewine, Morgan Martin, Mara Hart
Schizophrenia has generally been viewed as having a unique preschizophrenia personality or destructive to the personality post-onset. This view is reflected in the scarcity of studies of personality in schizophrenia with the exception of schizotypal personality considered by many as an endophenotype of schizophrenia. What is missing is the study of personality as independent of schizophrenia and as a potential source of schizophrenia heterogeneity. In this study we examine sex versus gender as an initial effort to introduce personality as a normal variant that influences how schizophrenia is expressed...
February 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28212171/ability-based-emotional-intelligence-in-schizophrenia
#7
Beatrice Frajo-Apor, Alex Hofer
PURPOSE OF REVIEW: As one part of social cognition, emotional intelligence is a controversially discussed construct. Although well founded critique on the conceptualization of emotional intelligence has emerged over the last years, studies about emotional intelligence - especially the ability-based approach by Mayer and Salovey - can persistently be found in schizophrenia research. RECENT FINDINGS: Studies published between October 2015 and October 2016 were included in this review...
February 15, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28203264/a-pilot-study-exploring-the-association-of-morphological-changes-with-5-httlpr-polymorphism-in-ocd-patients
#8
Shinichi Honda, Tomohiro Nakao, Hiroshi Mitsuyasu, Kayo Okada, Leo Gotoh, Mayumi Tomita, Hirokuni Sanematsu, Keitaro Murayama, Keisuke Ikari, Masumi Kuwano, Takashi Yoshiura, Hiroaki Kawasaki, Shigenobu Kanba
BACKGROUND: Clinical and pharmacological studies of obsessive-compulsive disorder (OCD) have suggested that the serotonergic systems are involved in the pathogenesis, while structural imaging studies have found some neuroanatomical abnormalities in OCD patients. In the etiopathogenesis of OCD, few studies have performed concurrent assessment of genetic and neuroanatomical variables. METHODS: We carried out a two-way ANOVA between a variable number of tandem repeat polymorphisms (5-HTTLPR) in the serotonin transporter gene and gray matter (GM) volumes in 40 OCD patients and 40 healthy controls (HCs)...
2017: Annals of General Psychiatry
https://www.readbyqxmd.com/read/28202203/female-specific-effect-of-the-bdnf-gene-on-alzheimer-s-disease
#9
Guo-Dong Li, Rui Bi, Deng-Feng Zhang, Min Xu, Rongcan Luo, Dong Wang, Yiru Fang, Tao Li, Chen Zhang, Yong-Gang Yao
Alzheimer's disease (AD) is the most common neurodegenerative disease influenced by genetic and environmental factors. Brain-derived neurotrophic factor (BDNF) plays an important role in the progression of AD, but the genetic association between BDNF and AD remains controversial. In this study, we aimed to explore the potential association between genetic variants in BDNF and AD in Han Chinese and to investigate whether the association is affected by gender. A 3-stage study was conducted to evaluate the genetic association between BDNF and AD...
January 24, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28199907/beliefs-about-genetic-influences-on-eating-behaviors-characteristics-and-associations-with-weight-management-confidence
#10
Susan Persky, Sofia Bouhlal, Megan R Goldring, Colleen M McBride
INTRODUCTION: The development of precision approaches for customized health interventions is a promising application of genomic discovery. To optimize such weight management interventions, target audiences will need to be engaged in research and implementation efforts. Investigation into approaches that engage these audiences will be required to ensure that genomic information, particularly with respect to genomic influences on endophenotypes like eating behavior, is understood and accepted, and not associated with unintended adverse outcomes...
February 9, 2017: Eating Behaviors
https://www.readbyqxmd.com/read/28195063/generation-of-membrane-bound-catechol-o-methyl-transferase-deficient-mice-with-disctinct-sex-dependent-behavioral-phenotype
#11
A Tammimaki, A Aonurm-Helm, F P Zhang, M Poutanen, G Duran-Torres, A Garcia-Horsman, P T Mannisto
Catechol-O-methyltransferase (COMT) has two isoforms: soluble (S-COMT), which resides in the cytoplasm, and membrane-bound (MB-MT), anchored to intracellular membranes. COMT is involved in the O-methylation of L-DOPA, dopamine and other catechols. The exact role of MB-COMT is still mostly unclear. We wanted to create a novel genetically modified mouse model that specifically lacks MB-COMT activity and to study their behavioral phenotype. MB-COMT knock-in mutant mice were generated by introducing two point mutations in exon 2 of the Comt gene (ATGCTG->GAGCTC disabling the function of the P2 promoter and allowing only the P1-regulated S-COMT transcription...
December 2016: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
https://www.readbyqxmd.com/read/28194760/developmental-psychopathology-in-the-post-genomics-era-substantial-challenges-but-reasons-for-hope
#12
EDITORIAL
Jeffrey M Halperin
One only has to quickly look through the Table of Contents for this issue of JCPP to gain an appreciation of the ever-increasing influence of genetic research in the field of developmental psychopathology. Among the 13 articles in this issue that follow this editorial: two employ large family and/or twin studies to provide compelling behavioral genetic findings bolstering the importance of genes in the emergence of ADHD (Chen, Brikell, Lichtenstein, Serlachius, Kuja-Halkola, Sandin, and Larsson) and level of educational achievement in adolescents (Lewis, Asbury, and Plomin); one paper focuses on cortical development in patients with 22q11...
March 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28192174/does-genetic-bdnf-deficiency-in-rats-interact-with-neurotransmitter-control-of-prepulse-inhibition-implications-for-schizophrenia
#13
Maarten van den Buuse, Davina Biel, Kathrin Radscheit
Several studies have suggested a role of BDNF in the development of schizophrenia. For example, post-mortem studies have shown significantly reduced levels of BDNF protein expression in the brain of schizophrenia patients. We investigated the relationship between reduced levels of BDNF in the brain and the regulation of prepulse inhibition (PPI), a behavioral endophenotype of schizophrenia. We used BDNF heterozygous mutant rats which display a 50% decrease of mature BDNF protein levels. Previously, we observed normal baseline PPI and responses to the dopamine D1/D2 receptor agonist, apomorphine, in these rats...
February 10, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28192105/adolescent-obesity-and-insulin-resistance-roles-of-ectopic-fat-accumulation-and-adipose-inflammation
#14
Sonia Caprio, Rachel Perry, Romy Kursawe
As a consequence of the global rise in the prevalence of Adolescent Obesity, an unprecedented phenomenon of Type 2 Diabetes (T2D) has emerged in pediatrics. At the heart of T2D development lies a key metabolic derangement: Insulin Resistance (IR) . Despite the widespread occurrence of IR affecting an unmeasurable number of youths worldwide, its pathogenesis remains elusive. IR in obese youth is a complex phenomenon that defies explanation by a single pathway. In this review we first describe recent data on the prevalence, severity, and racial/ethnic differences in Pediatric Obesity...
February 9, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28160276/harm-avoidance-and-childhood-adversities-in-patients-with-obsessive-compulsive-disorder-and-their-unaffected-first-degree-relatives
#15
K Bey, L Lennertz, A Riesel, J Klawohn, C Kaufmann, S Heinzel, R Grützmann, N Kathmann, M Wagner
OBJECTIVE: The etiology of obsessive-compulsive disorder (OCD) is assumed to involve interactions between genetically determined vulnerability factors and significant environmental features. Here, we aim to investigate how the personality trait harm avoidance and the experience of childhood adversities contribute to OCD. METHOD: A total of 169 patients with OCD, 157 healthy comparison subjects, and 57 unaffected first-degree relatives of patients with OCD participated in the study...
February 3, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/28139756/simple-and-complex-retinal-dystrophies-are-associated-with-profoundly-different-disease-networks
#16
Christina Kiel, Claire Lastrucci, Philip J Luthert, Luis Serrano
Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental and lifestyle risk factors. Here, we contrast the underlying disease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD as an example of the latter...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28131192/cross-sectional-and-longitudinal-associations-of-motor-fluctuations-and-non-motor-predominance-with-cerebrospinal-%C3%AF-and-a%C3%AE-as-well-as-dementia-risk-in-parkinson-s-disease
#17
Raluca Modreanu, Sonia Catalina Cerquera, María José Martí, José Ríos, Almudena Sánchez-Gómez, Ana Cámara, Manel Fernández, Yaroslau Compta
Experimental, neuropathological and cerebrospinal fluid (CSF) studies support τ and amyloid-β (Aβ) relevance in Parkinson's disease (PD) related dementia. Lesser motor fluctuations (MFs) and non-motor features have also been related to PD-dementia. Yet, little is known about the association of MFs and non-motor symptoms with CSF τ and Aβ in PD. We hypothesized that lesser MFs and non-motor predominance are related to these CSF markers and dementia-risk in PD. We studied 58 PD patients (dementia at baseline, n=21; dementia at 18-months, n=35) in whom CSF Aβ and τ had been determined with ELISA techniques...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28130172/brain-specific-knockin-of-the-pathogenic-tubb5-e401k-allele-causes-defects-in-motor-coordination-and-prepulse-inhibition
#18
Martin W Breuss, Andi H Hansen, Lukas Landler, David A Keays
The generation, migration, and differentiation of neurons requires the functional integrity of the microtubule cytoskeleton. Mutations in the tubulin gene family are known to cause various neurological diseases including lissencephaly, ocular motor disorders, polymicrogyria and amyotrophic lateral sclerosis. We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. Here we present the characterization of a Tubb5 mouse model that allows for the conditional expression of the pathogenic E401K mutation...
January 25, 2017: Behavioural Brain Research
https://www.readbyqxmd.com/read/28127577/parkinsonian-motor-impairment-predicts-personality-domains-related-to-genetic-risk-and-treatment-outcomes-in-schizophrenia
#19
Juan L Molina, María Calvó, Eduardo Padilla, Mara Balda, Gabriela González Alemán, Néstor V Florenzano, Gonzalo Guerrero, Danielle Kamis, Beatriz Molina Rangeon, Mercedes Bourdieu, Sergio A Strejilevich, Horacio A Conesa, Javier I Escobar, Igor Zwir, C Robert Cloninger, Gabriel A de Erausquin
Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for schizophrenia and predict long-term treatment outcomes. We recruited 61 antipsychotic naïve subjects with chronic schizophrenia, 99 unaffected relatives, and 68 healthy controls from rural communities in the Central Andes. Diagnosis was ascertained with the Schedules of Clinical Assessment in Neuropsychiatry; parkinsonian motor impairment was measured with the Unified Parkinson's Disease Rating Scale; mesencephalic parenchyma was evaluated with transcranial ultrasound; and personality traits were assessed using the Temperament and Character Inventory...
2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28119174/maoa-and-maob-polymorphisms-and-personality-traits-in-suicide-attempters-and-healthy-controls-a-preliminary-study
#20
Martina Balestri, Raffaella Calati, Alessandro Serretti, Annette M Hartmann, Bettina Konte, Marion Friedl, Ina Giegling, Dan Rujescu
Serotonergic neurotransmission dysfunctions have been well documented in patients with suicidal behaviour. We investigated monoamine oxidase A (MAOA: rs2064070, rs6323, rs909525) and B (MAOB: rs1799836, rs2311013, rs2205655) genetic modulation of personality traits (Temperament and Character Inventory, TCI) as endophenotype for suicidal behaviour. 108 suicide attempters and 286 healthy controls of German origin were screened. Among females, allelic analyses revealed associations between MAOA rs6323 A allele and higher Harm Avoidance in suicide attempters and MAOB rs2205655 A allele and higher Cooperativeness scores in healthy controls...
January 10, 2017: Psychiatry Research
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