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Endophenotype

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https://www.readbyqxmd.com/read/30315123/immediate-verbal-recall-and-familial-dementia-risk-population-based-study-of-over-4000-twins
#1
Noora Lindgren, Jaakko Kaprio, Juha O Rinne, Eero Vuoksimaa
OBJECTIVE: To investigate the effect of familial risk for dementia on verbal learning by comparing cognitively healthy twins who had demented co-twins with cognitively healthy twins who had cognitively healthy co-twins. METHODS: 4367 twins aged ≥65 years including 1375 twin pairs (533 monozygotic (MZ), 823 dizygotic (DZ) and 19 unknown zygosity pairs) from a population-based Finnish Twin Cohort participated in a cross-sectional telephone assessment for dementia and in a single free recall trial of a 10-item word list...
October 12, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/30306525/neuroimaging-studies-of-primary-dysmenorrhea
#2
Intan Low, Shyh-Yuh Wei, Pin-Shiuan Lee, Wei-Chi Li, Lin-Chien Lee, Jen-Chuen Hsieh, Li-Fen Chen
Primary dysmenorrhea (PDM), cyclic menstrual pain in the absence of pelvic anomalies, is one of the most common gynecological disorders in reproductive females. Classified as chronic pelvic pain syndrome, PDM encompasses recurrent spontaneous painful ("on") and pain-free ("off") states and is thus a good clinical model to study state- and trait-related changes of pain in the brain. In this chapter, we summarize state-of-the-art neuroimaging studies of primary dysmenorrhea from phenotype and endophenotype to genotype facets...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/30301879/schizophrenia-related-cognitive-dysfunction-in-the-cyclin-d2-knockout-mouse-model-of-ventral-hippocampal-hyperactivity
#3
Christina M Grimm, Sonat Aksamaz, Stefanie Schulz, Jasper Teutsch, Piotr Sicinski, Birgit Liss, Dennis Kätzel
Elevated activity at the output stage of the anterior hippocampus has been described as a physiological endophenotype of schizophrenia, and its development maps onto the transition from the prodromal to the psychotic state. Interventions that halt the spreading glutamatergic over-activity in this region and thereby the development of overt schizophrenia could be promising therapies. However, animal models with high construct validity to support such pre-clinical development are scarce. The Cyclin-D2 knockout (CD2-KO) mouse model shows a hippocampal parvalbumin-interneuron dysfunction, and its pattern of hippocampal over-activity shares similarities with that seen in prodromal patients...
October 9, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/30300674/conflict-related-medial-frontal-theta-as-an-endophenotype-for-alcohol-use-disorder
#4
Jeremy Harper, Stephen M Malone, William G Iacono
Diminished cognitive control in alcohol use disorder (AUD) is thought to be mediated by prefrontal cortex circuitry dysregulation. Research testing the relationship between AUD and specific cognitive control psychophysiological correlates, such as medial frontal (MF) theta-band EEG power, is scarce, and the etiology of this relationship is largely unknown. The current report tested relationship between pathological alcohol use through young adulthood and reduced conflict-related theta at age 29 in a large prospective population-based twin sample...
October 6, 2018: Biological Psychology
https://www.readbyqxmd.com/read/30298180/female-sex-and-alzheimer-s-risk-the-menopause-connection
#5
O Scheyer, A Rahman, H Hristov, C Berkowitz, R S Isaacson, R Diaz Brinton, L Mosconi
Along with advanced age and apolipoprotein E (APOE)-4 genotype, female sex is a major risk factor for developing late-onset Alzheimer's disease (AD). Considering that AD pathology begins decades prior to clinical symptoms, the higher risk in women cannot simply be accounted for by their greater longevity as compared to men. Recent investigation into sex-specific pathophysiological mechanisms behind AD risk has implicated the menopause transition (MT), a midlife neuroendocrine transition state unique to females...
2018: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/30294252/the-small-world-of-adult-hippocampal-neurogenesis
#6
Rupert W Overall, Gerd Kempermann
Making mechanistic sense of genetically complex biological systems such as adult hippocampal neurogenesis poses conceptual and many practical challenges. Transcriptomics studies have helped to move beyond single-gene approaches and have greatly enhanced the accessibility to effects of greater numbers of genes. Typically, however, the number of experimental conditions compared is small and the conclusions remain correspondingly limited. In contrast, studying complex traits in genetic reference populations, in which genetic influences are varied systematically, provides insight into the architecture of relationships between phenotypes and putative molecular mechanisms...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30292651/genetic-variation-of-the-mineralocorticoid-receptor-gene-mr-nr3c2-is-associated-with-a-conceptual-endophenotype-of-crf-hypoactivity
#7
REVIEW
Robert Kumsta, David Kliegel, Michael Linden, Roel DeRijk, E Ron de Kloet
Recently, the "conceptual endophenotype" approach has been proposed as a means to identify subgroups of patients affected by stress-related psychiatric disorders. Conceptual endophenotypes consist of patterns of psychological, biological, and symptomatic elements. We studied a sample of patients seeking help for psychosomatic and stress-related disorders (total N = 469), who were evaluated with a diagnostic instrument that integrates psychological and biological data to derive 13 endophenotypes, or Neuropattern...
September 27, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/30291584/crybb2-mutations-consistently-affect-schizophrenia-endophenotypes-in-mice
#8
Tamara Heermann, Lillian Garrett, Wolfgang Wurst, Helmut Fuchs, Valerie Gailus-Durner, Martin Hrabě de Angelis, Jochen Graw, Sabine M Hölter
As part of the βγ-superfamily, βB2-crystallin (CRYBB2) is an ocular structural protein in the lens, and mutation of the corresponding gene can cause cataracts. CRYBB2 also is expressed in non-lens tissue such as the adult mouse brain and is associated with neuropsychiatric disorders such as schizophrenia. Nevertheless, the robustness of this association as well as how CRYBB2 may contribute to disease-relevant phenotypes is unknown. To add further clarity to this issue, we performed a comprehensive analysis of behavioral and neurohistological alterations in mice with an allelic series of mutations in the C-terminal end of the Crybb2 gene...
October 6, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/30290968/the-psychobiology-of-using-automated-driving-systems-a-systematic-review-and-integrative-model
#9
REVIEW
Gunther Meinlschmidt, Esther Stalujanis, Marion Tegethoff
Using vehicles with engaged automated driving systems (ADS) ('highly automated driving', HAD) will substantially impact on future society's mobility, yet the current understanding of human psychobiology related to HAD is still limited. Hence, we synthesized evidence on the psychobiology of subjects using HAD, informing an integrative model of the psychobiology of HAD, and providing guidance for reporting future research on this topic. We included (non-)randomized studies assessing human peripheral biology markers of in-vehicle-users in real or simulated driving environments, using vehicles with vs...
September 22, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/30289619/insistence-on-sameness-and-broader-autism-phenotype-in-simplex-families-with-autism-spectrum-disorder
#10
Amy N Esler, Sheri T Stronach, Suma Jacob
Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ)...
October 5, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/30287865/genome-wide-association-study-reveals-novel-genetic-locus-associated-with-intra-individual-variability-in-response-time
#11
Ari Pinar, Ziarih Hawi, Tarrant Cummins, Beth Johnson, Marc Pauper, Janette Tong, Jeggan Tiego, Amy Finlay, Marieke Klein, Barbara Franke, Alex Fornito, Mark A Bellgrove
Intra-individual response time variability (IIRTV) is proposed as a viable endophenotype for many psychiatric disorders, particularly attention-deficit hyperactivity disorder (ADHD). Here we assessed whether IIRTV was associated with common DNA variation genome-wide and whether IIRTV mediated the relationship between any associated loci and self-reported ADHD symptoms. A final data set from 857 Australian young adults (489 females and 368 males; Mage  = 22.14 years, SDage  = 4.82 years) who completed five response time tasks and self-reported symptoms of ADHD using the Conners' Adult ADHD Rating Scale was used...
October 4, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/30280304/machine-learning-approach-to-identify-a-resting-state-functional-connectivity-pattern-serving-as-an-endophenotype-of-autism-spectrum-disorder
#12
Bun Yamagata, Takashi Itahashi, Junya Fujino, Haruhisa Ohta, Motoaki Nakamura, Nobumasa Kato, Masaru Mimura, Ryu-Ichiro Hashimoto, Yuta Aoki
Endophenotype refers to a measurable and heritable component between genetics and diagnosis, and the same endophenotype is present in both individuals with a diagnosis and their unaffected siblings. Determination of the neural correlates of an endophenotype and diagnosis is important in autism spectrum disorder (ASD). However, prior studies enrolling individuals with ASD and their unaffected siblings have generally included only one group of typically developing (TD) subjects; they have not accounted for differences between TD siblings...
October 2, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/30272120/altered-white-matter-organization-in-the-tubb3-e410k-syndrome
#13
P Ellen Grant, Kiho Im, Banu Ahtam, Cynthia T Laurentys, Wai-Man Chan, Maya Brainard, Sheena Chew, Marie Drottar, Caroline D Robson, Irene Drmic, Elizabeth C Engle
Seven unrelated individuals (four pediatric, three adults) with the TUBB3 E410K syndrome, harboring identical de novo heterozygous TUBB3 c.1228 G>A mutations, underwent neuropsychological testing and neuroimaging. Despite the absence of cortical malformations, they have intellectual and social disabilities. To search for potential etiologies for these deficits, we compared their brain's structural and white matter organization to 22 controls using structural and diffusion magnetic resonance imaging. Diffusion images were processed to calculate fractional anisotropy (FA) and perform tract reconstructions...
October 1, 2018: Cerebral Cortex
https://www.readbyqxmd.com/read/30266294/subcortical-brain-volumes-cortical-thickness-and-cortical-surface-area-in-families-genetically-enriched-for-social-anxiety-disorder-a-multiplex-multigenerational-neuroimaging-study
#14
Janna Marie Bas-Hoogendam, Henk van Steenbergen, Renaud L M Tissier, Jeanine J Houwing-Duistermaat, P Michiel Westenberg, Nic J A van der Wee
BACKGROUND: Social anxiety disorder (SAD) is a disabling psychiatric condition with a genetic background. Brain alterations in gray matter (GM) related to SAD have been previously reported, but it remains to be elucidated whether GM measures are candidate endophenotypes of SAD. Endophenotypes are measurable characteristics on the causal pathway from genotype to phenotype, providing insight in genetically-based disease mechanisms. Based on a review of existing evidence, we examined whether GM characteristics meet two endophenotype criteria, using data from a unique sample of SAD-patients and their family-members of two generations...
September 25, 2018: EBioMedicine
https://www.readbyqxmd.com/read/30265060/genetic-influences-on-delayed-reward-discounting-a-genome-wide-prioritized-subset-approach
#15
James MacKillop, Joshua C Gray, Jessica Weafer, Sandra Sanchez-Roige, Abraham A Palmer, Harriet de Wit
Delayed reward discounting (DRD) is a behavioral economic measure of impulsivity that has been consistently associated with addiction. It has also been identified as a promising addiction endophenotype, linking specific sources of genetic variation to individual risk. A challenge in the studies to date is that levels of DRD are often confounded with prior drug use, and previous studies have also had limited genomic scope. The current investigation sought to address these issues by studying DRD in healthy young adults with low levels of substance use (N = 986; 62% female, 100% European ancestry) and investigating genetic variation genome-wide...
September 27, 2018: Experimental and Clinical Psychopharmacology
https://www.readbyqxmd.com/read/30258349/slow-binocular-rivalry-as-a-potential-endophenotype-of-schizophrenia
#16
Guixian Xiao, Kongliang He, Xingui Chen, Lu Wang, Xiaomeng Bai, Liling Gao, Chunyan Zhu, Kai Wang
Objectives: Binocular rivalry is a typical example of bistable perception that arises when two monocular images are simultaneously presented to each eye. Binocular rivalry is a heritable perceptual cognitive function that is impaired in patients with schizophrenia (SZ). Despite its potential suitability as a visual endophenotype, binocular rivalry has hardly been studied in the unaffected siblings of schizophrenia (SIB). There is also little research about whether binocular rivalry is a potential visual endophenotype between SZ and SIB...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30257007/dna-methylation-of-oxtr-is-associated-with-parasympathetic-nervous-system-activity-and-amygdala-morphology
#17
Katie Lancaster, Lauren Goldbeck, Meghan H Puglia, James P Morris, Jessica J Connelly
Oxytocin has anxiolytic properties whose mechanisms of action are still being identified. DNA methylation in the promoter region of the oxytocin receptor gene (OXTR), an epigenetic modification that putatively reflects a downtuning of the oxytocin system, has previously been implicated in the regulation of fear-related responses through the amygdala. In this study, we attempted to characterize the relationship between methylation of OXTR and anxiogenesis using two distinct endophenotypes: autonomic nervous system activity and subcortical brain structure...
September 25, 2018: Social Cognitive and Affective Neuroscience
https://www.readbyqxmd.com/read/30255815/rare-variants-in-the-splicing-regulatory-elements-of-exoc3l4-are-associated-with-brain-glucose-metabolism-in-alzheimer-s-disease
#18
Jason E Miller, Manu K Shivakumar, Younghee Lee, Seonggyun Han, Emrin Horgousluoglu, Shannon L Risacher, Andrew J Saykin, Kwangsik Nho, Dokyoon Kim
BACKGROUND: Alzheimer's disease (AD) is one of the most common neurodegenerative diseases that causes problems related to brain function. To some extent it is understood on a molecular level how AD arises, however there are a lack of biomarkers that can be used for early diagnosis. Two popular methods to identify AD-related biomarkers use genetics and neuroimaging. Genes and neuroimaging phenotypes have provided some insights as to the potential for AD biomarkers. While the field of imaging-genomics has identified genetic features associated with structural and functional neuroimaging phenotypes, it remains unclear how variants that affect splicing could be important for understanding the genetic etiology of AD...
September 14, 2018: BMC Medical Genomics
https://www.readbyqxmd.com/read/30251972/-the-features-of-emotional-processing-in-patients-with-depressive-disorders
#19
M V Balashova, I V Pluzhnikov, G E Rupchev
AIM: To study neurocognitive symptoms in depressive disorders with the designation of their brain and psychological mechanisms. MATERIAL AND METHODS: Thirty-three patients diagnosed with depression and 33 healthy controls were studied using standardized neuropsychological tests and tests comprising emotiogenic stimuli. RESULTS: A neurocognitive deficit in patients with depression manifested as changes in speed of emotional processing and some cognitive functions...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/30249805/nature-and-nurture-brain-region-specific-inheritance-of-sleep-neurophysiology-in-adolescence
#20
T Rusterholz, C Hamann, A Markovic, S J Schmidt, P Achermann, L Tarokh
Sleep specific oscillations of spindles and slow waves are generated through thalamocortical and cortico-cortical loops respectively, and provide a unique opportunity to measure the integrity of neuronal systems. Understanding the relative contribution of genetic factors to sleep oscillations is important for determining whether they constitute useful endophenotypes that mark vulnerability to psychiatric illness. Using high-density sleep EEG recordings in human adolescent twin pairs (n=60; 28 females), we find that over posterior regions 80 to 90% of the variance in slow oscillations, slow wave and spindle activity is due to genes...
September 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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