Endophenotype
View article: Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine
Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine Open
Background: Chronic migraine is a heterogeneous disorder, yet current therapeutic protocols often apply a "one-size-fits-all" approach. A subset of patients remains refractory to standard preventative medications, including CGRP monoclonal…
View article: Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine
Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine Open
Background: Chronic migraine is a heterogeneous disorder, yet current therapeutic protocols often apply a "one-size-fits-all" approach. A subset of patients remains refractory to standard preventative medications, including CGRP monoclonal…
View article: Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine
Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine Open
Background: Chronic migraine is a heterogeneous disorder, yet current therapeutic protocols often apply a "one-size-fits-all" approach. A subset of patients remains refractory to standard preventative medications, including CGRP monoclonal…
View article: Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine
Rheumatoid Endothelinitis: A Novel Endothelin-1 Driven Neurovascular Phenotype Mimicking Refractory Chronic Migraine Open
Background: Chronic migraine is a heterogeneous disorder, yet current therapeutic protocols often apply a "one-size-fits-all" approach. A subset of patients remains refractory to standard preventative medications, including CGRP monoclonal…
View article: Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health
Genome-wide association study of delay discounting identifies 11 loci and reveals transdiagnostic associations across mental and physical health Open
Delay discounting (DD), a person’s preference for smaller immediate rewards over larger delayed rewards, is a heritable trait that is associated with psychiatric and physical outcomes, yet the biological mechanisms underlying these links a…
View article: The effects of polygenic risks for alcohol misuse on negative emotion processing in young adult binge drinkers
The effects of polygenic risks for alcohol misuse on negative emotion processing in young adult binge drinkers Open
Extensive research has documented altered emotion processing in binge drinkers. Genetic risks contribute to problem drinking; however, it remains unclear how genetic risks for alcohol misuse affect behavioral and brain responses to negativ…
View article: Effect of polygenic scores on the relationship between psychosis and cognition
Effect of polygenic scores on the relationship between psychosis and cognition Open
Cognitive impairment is an important but often under-researched symptom in psychosis. Both psychosis and cognition are highly heritable and there is evidence of a genetic effect on the relationship between them. Using samples of adults ( N…
View article: Subtypes of cocaine use disorder and their neurobehavioral profiles
Subtypes of cocaine use disorder and their neurobehavioral profiles Open
Cocaine Use Disorder (CUD) afflicts over 1.4 million individuals in the United States alone. However, current treatments are largely ineffective, with up to 85% returning to use long-term. We posit that addressing functional heterogeneity …
View article: Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study
Longitudinal Exploration of Auditory Sensory-Perceptual Processing in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): A High-Density Auditory Evoked Potential (AEP) Study Open
Background There is currently limited information about sensory and perceptual abilities across the progression of CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis; Batten disease), a recessively inherited lysosomal storage disorder a…
View article: Genetic and clinical characteristics associated with antidepressant-induced mania in depression patients
Genetic and clinical characteristics associated with antidepressant-induced mania in depression patients Open
AIM was observed in one-fifth of depressive patients of the Han Chinese origin, with female gender and psychiatric comorbidities as significant clinical characteristics. This GWAS of AIM in depressive patients identified potential genetic …
View article: Molecular and topographic mapping of antipsychotic effects: a meta-analysis of postsynaptic density proteins in animal models with translational implications
Molecular and topographic mapping of antipsychotic effects: a meta-analysis of postsynaptic density proteins in animal models with translational implications Open
Background While antipsychotics primarily target dopamine D 2 receptor, the putative synaptic mechanisms underlying their therapeutic effects remain unclear. Postsynaptic density (PSD) at glutamatergic synapses represents a dynamic protein…
View article: The fundamental disturbance (Grundstörung) of schizophrenia (Part 1): Acquiring a potent endophenotype, exploratory eye movement
The fundamental disturbance (Grundstörung) of schizophrenia (Part 1): Acquiring a potent endophenotype, exploratory eye movement Open
It is important to identify the common fundamental disturbance (Grundstörung) in schizophrenia and to elucidate its real nature. A fundamental disturbance refers to a primary disturbance underlying the pathology of schizophrenia and is def…
View article: Resting-state EEG changes associated with cognitive decline in Parkinson’s disease: a systematic review
Resting-state EEG changes associated with cognitive decline in Parkinson’s disease: a systematic review Open
Cognitive decline is a common and disabling feature of Parkinson’s disease (PD), frequently progressing from mild cognitive impairment to Parkinson’s disease dementia. Due to substantial heterogeneity in PD phenotypes, current research is …
View article: EEG neurosubtyping of infants predicts language trajectories
EEG neurosubtyping of infants predicts language trajectories Open
Autism spectrum disorder (ASD), like many other neurodevelopmental conditions, arises from complex interactions between genetics and environmental factors. In the last 50 years, significant efforts have been made to identify biomarkers and…
View article: Sensory Processing Sensitivity and the Association with Attention-Deficit/ Hyperactivity Disorder (ADHD) Traits, and ADHD-Related Strengths in the General Population
Sensory Processing Sensitivity and the Association with Attention-Deficit/ Hyperactivity Disorder (ADHD) Traits, and ADHD-Related Strengths in the General Population Open
Sensory processing sensitivity (SPS) is a normally distributed personality trait reflecting sensitivity to stimuli. However, despite societal interest, it is unclear how SPS relates to Attention-deficit/hyperactivity disorder (ADHD). Here …
View article: Attention-deficit hyperactivity disorder associated gene variants and their impact on neuroanatomy
Attention-deficit hyperactivity disorder associated gene variants and their impact on neuroanatomy Open
Attention-deficit/hyperactivity disorder (ADHD) is a prevalent neurodevelopmental disorder characterized by complex genetic and neurobiological underpinnings, with heritability estimates suggesting that genetic factors account for up to 75…
View article: Recent advances in model systems for interrogating diseases of brain aging and associated dementia: Toward human-relevant endophenotypes
Recent advances in model systems for interrogating diseases of brain aging and associated dementia: Toward human-relevant endophenotypes Open
Neurodegenerative diseases are characterized by key pathological hallmarks, progressive loss of neuronal structure and function, and synaptic loss. Often, mild behavioral changes including subjective cognitive decline and neuropsychiatric …
View article: Individualized Interactomes from Pulmonary Arterial Hypertension Cell Biopsies Predict Therapeutic Response
Individualized Interactomes from Pulmonary Arterial Hypertension Cell Biopsies Predict Therapeutic Response Open
Pulmonary arterial hypertension (PAH) is characterized by molecular heterogeneity and variable pharmacotherapeutic responses. We used an in silico clinical trial design to test whether transcriptomic data from pulmonary artery endothelial …
View article: Deficiency of Shank3 in the nucleus accumbens reveals a loss of social-specific motivation
Deficiency of Shank3 in the nucleus accumbens reveals a loss of social-specific motivation Open
Social behavior deficits are a hallmark of autism and other neuropsychiatric disorders. SHANK3, a common causal gene for autism, is highly expressed in the nucleus accumbens (NAc), a critical brain region for social behaviors. We previousl…
View article: Multidimensional Phenotyping and Predictive Neuropsychological Modeling of Socio-Cognitive Endophenotypes in Early Parkinson’s Disease
Multidimensional Phenotyping and Predictive Neuropsychological Modeling of Socio-Cognitive Endophenotypes in Early Parkinson’s Disease Open
Background/Objectives: Socio-cognitive disorders constitute the early-stage disabling dimension of non-motor symptoms of Parkinson’s disease (PD) and affect social functioning and interpersonal adjustment. However, current assessment tools…
View article: The Role of Interoception in Felt Presence and Psychosis Risk
The Role of Interoception in Felt Presence and Psychosis Risk Open
Background: Felt presence (FP) – the sensation of someone nearby without sensory evidence – is common in healthy adults and related to psychosis risk. FP may arise from a misattribution of internal signals to an external source and often o…
View article: Toward precision EEG: Assessing the reliability of individual-level ERPs across EEG Systems
Toward precision EEG: Assessing the reliability of individual-level ERPs across EEG Systems Open
Event-related potentials (ERPs) are among the most established tools for studying the neural mechanisms of perception and cognition. Advancing toward precision EEG, however, places new demands for a better understanding of how reliable neu…
View article: Characterisation of a touchscreen-based task for assessing cognitive judgement bias in mice: a new translational tool for affective state disorder drug screening
Characterisation of a touchscreen-based task for assessing cognitive judgement bias in mice: a new translational tool for affective state disorder drug screening Open
Rationale A major obstacle in the pre-clinical study of mood-related disorders and novel affective state therapeutic evaluation is the lack of animal models that fully recapitulate human symptomatology. Objective In this study, we develope…
View article: Polygenic pathways shape white matter vulnerability to Alzheimer’s disease-related pathophysiological changes
Polygenic pathways shape white matter vulnerability to Alzheimer’s disease-related pathophysiological changes Open
Pathway-specific genetic vulnerability to AD is associated with alterations in WM tracts both directly and by moderating the effects of AD-related pathophysiological changes. AD-associated genetic risk should be integrated into the AD diag…
View article: The Yamamoto New Scalp Acupuncture (YNSA) as a Precision Technique in the Management of Chronic Pain
The Yamamoto New Scalp Acupuncture (YNSA) as a Precision Technique in the Management of Chronic Pain Open
Background: Chronic pain affects approximately 20–30% of the global adult population and is associated with substantial physical, psychological, and socio-economic burdens. Conventional pharmacological treatments often provide limited reli…
View article: The Yamamoto New Scalp Acupuncture (YNSA) as a Precision Technique in the Management of Chronic Pain
The Yamamoto New Scalp Acupuncture (YNSA) as a Precision Technique in the Management of Chronic Pain Open
Background: Chronic pain affects approximately 20–30% of the global adult population and is associated with substantial physical, psychological, and socio-economic burdens. Conventional pharmacological treatments often provide limited reli…
View article: The Role of Interoception in Felt Presence and Psychosis Risk
The Role of Interoception in Felt Presence and Psychosis Risk Open
Background: Felt presence (FP) – the sensation of someone nearby without sensory evidence – is common in healthy adults and related to psychosis risk. FP may arise from a misattribution of internal signals to an external source and often o…
View article: Bridging Biology and Therapy: Advances in Management of Bipolar Disorder
Bridging Biology and Therapy: Advances in Management of Bipolar Disorder Open
Bipolar disorder is a complex psychiatric illness that is characterized by alternating episodes of mania and depression that significantly affect the quality of life. It is a chronic condition that has multifactorial pathophysiological mec…
View article: Bridging Biology and Therapy: Advances in Management of Bipolar Disorder
Bridging Biology and Therapy: Advances in Management of Bipolar Disorder Open
Bipolar disorder is a complex psychiatric illness that is characterized by alternating episodes of mania and depression that significantly affect the quality of life. It is a chronic condition that has multifactorial pathophysiological mec…
View article: Diffusion Tensor Imaging investigation of cerebral white matter in female offspring at high-risk for Eating Disorders
Diffusion Tensor Imaging investigation of cerebral white matter in female offspring at high-risk for Eating Disorders Open
Background: Eating disorders (EDs) are severe psychiatric conditions with significant physical and psychosocial consequences. Emerging evidence suggests that EDs are associated with structural brain abnormalities, yet it remains unclear wh…