Results 31 to 40 of about 4,269 (166)

Statistical issues and approaches in endophenotype research [PDF]

, 2011
The endophenotype concept was initially proposed to enhance the power of genetic studies of complex disorders. It is closely related to the genetic component in a liability-threshold model; a perfect endophenotype should have a correlation of 1 with the ...
Cherny, SS, Mei-Hua Hall, Hall, MH, Pak Chung Sham, Sham, PC, Stacey S. Cherny   +5 more
core   +1 more source

When is an endophenotype useful to detect association to a disease? Exploring the relationships between disease status, endophenotype and genetic polymorphisms

, 2016
Objectives: To investigate the conditions and analysis strategies required so that endophenotypes related to a disease help discover genetic variants involved in the disease.
Croteau, Jordie, Bureau, Alexandre
core   +1 more source

Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia

Frontiers in Neurology, 2017
Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT) is the minimum interval at which paired sequential stimuli are perceived as ...
Antonella Conte, Antonella Conte, Eavan M. McGovern, Eavan M. McGovern, Shruti Narasimham, Shruti Narasimham, Shruti Narasimham, Rebecca Beck, Rebecca Beck, Rebecca Beck, Owen Killian, Owen Killian, Owen Killian, Sean O’Riordan, Sean O’Riordan, Richard B. Reilly, Richard B. Reilly, Richard B. Reilly, Michael Hutchinson, Michael Hutchinson   +19 more
doaj   +1 more source

Intrinsic functional connectivity in families genetically enriched for social anxiety disorder - an endophenotype study

, 2022
Intrinsic functional connectivity in families genetically enriched for social anxiety disorder - an endophenotype study. Janna Marie Bas-Hoogendam, Henk van Steenbergen, Kathrin Cohen Kadosh, P. Michiel Westenberg,Nic J.A.
Bas-Hoogendam, Janna Marie
core   +1 more source

Endophenotype Research in Epilepsy Across Time

Brain Sciences
Background/Objectives: Endophenotypes—quantifiable biological markers bridging genetic variations and clinical manifestations—have significantly evolved since their introduction to psychiatric genetics.
Ozgun Yetkin, Ovinuchi Ejiohuo, Betul Baykan, Marcin Zarowski   +3 more
doaj   +1 more source

Ocular convergence deficits in schizophrenia

Frontiers in Psychiatry, 2012
Individuals with schizophrenia have been reported to exhibit a higher prevalence of convergence insufficiency (CI) than the normal adult population. The purpose of this study was to determine if individuals with schizophrenia exhibit clinical signs of CI
Mark S Bolding, Adrienne C. Lahti, Timothy J. Gawne, Kristine B. Hopkins, Demet eGurler, Paul D. Gamlin   +5 more
doaj   +1 more source

Impairment of executive functions and memory in unaffected siblings of patients with bipolar disorder

Psychiatry and Behavioral Sciences, 2015
Objective: Neurocognitive impairments in bipolar patients as a possible endophenotype is a growing field of research. Impairments in executive functions and memory have been reported in relatives of patients with bipolar disorder, suggesting that they ...
Deniz Uluhan Yıldırım, Cana Aksoy Poyraz, Burc Cağrı Poyraz, Armağan Ozdemir, Alaattin Duran   +4 more
doaj   +1 more source

14‐3‐3γ Protects Against Postoperative Cognitive Dysfunction by Regulating Tau Thr205 Phosphorylation and Synaptic Integrity

Advanced Science, EarlyView.
Integrative multi‐cohort analyses identify 14‐3‐3γ as a biomarker and regulator of cognitive vulnerability. Experimental studies show that 14‐3‐3γ loss is associated with Tau Thr205 phosphorylation, synaptic dysfunction, and cognitive impairment, while genetic overexpression or pharmacological stabilization of 14‐3‐3γ confers protective effects in ...
Shouqiang Zhu, Xue Han, Heng Zhang, Chang Ye, Tianjiao Xia, Xiaoping Gu   +5 more
wiley   +1 more source

Towards a New, Endophenotype-Based Strategy for Pathogenicity Prediction in BRCA1 and BRCA2: In Silico Modeling of the Outcome of HDR/SGE Assays for Missense Variants [PDF]

, 2021
The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense variants constitute an important problem with negative consequences for the diagnosis of hereditary breast and ovarian cancer.
Xavier de la Cruz, Selen Özkan, Natàlia Padilla   +2 more
core   +2 more sources

Deficits in Auditory and Visual Sensory Discrimination Reflect a Genetic Liability for Psychosis and Predict Disruptions in Global Cognitive Functioning

Frontiers in Psychiatry, 2020
Sensory discrimination thresholds (i.e., the briefest stimulus that can be accurately perceived) can be measured using tablet-based auditory and visual sweep paradigms.
Ian S. Ramsay, Michael-Paul Schallmo, Bruno Biagianti, Melissa Fisher, Sophia Vinogradov, Scott R. Sponheim, Scott R. Sponheim   +6 more
doaj   +1 more source