Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.S704C
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DISC1

NM_018662.3:p.S704C

Associated Papers

Dual phosphorylation of DISC1 at Ser58 and Ser713 regulates polarization of cortical neurons via GSK3β.

Ren J et al.

Science China. Life Sciences, 2025

Rethinking the Role of DISC1 in CNS Function: Translational Cross-Taxon Insights From Rodent and Zebrafish Models.

Volgin AD et al.

Journal of Integrative Neuroscience, 2025

A peptide mimetic therapeutic strategy targeting dysfunction of the scaffold protein DISC-1 in psychiatric disorders.

Cukkemane A et al.

European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences, 2025

Tracing the aggregation pathway of the scaffold protein DISC1: Structural implications for chronic mental illnesses.

Cukkemane A et al.

Journal of Structural Biology: X, 2025

Common DISC1 Polymorphisms Disrupt Wnt/GSK3β Signaling and Brain Development.

Singh KK et al.

Neuron, 2025

3-Dimensional structure prediction of C-terminal disrupted in schizophrenia 1: a suspected culprit of schizophrenia.

Khan MQ et al.

Journal of Biomolecular Structure & Dynamics, 2025

Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.

Xiong GJ et al.

The Journal of Cell Biology, 2024

Evidence of Disrupted-in Schizophrenia 1 (DISC1) as an arsenic binding protein and implications regarding its role as a translational activator.

Watanabe M et al.

Biorxiv : the Preprint Server for Biology, 2023

Evidence of DISC1 as an arsenic binding protein and implications regarding its role as a translational activator.

Watanabe M et al.

Frontiers in Molecular Biosciences, 2023

Combining fMRI and DISC1 gene haplotypes to understand working memory-related brain activity in schizophrenia.

Guardiola-Ripoll M et al.

Scientific Reports, 2022

Conformational heterogeneity coupled with β-fibril formation of a scaffold protein involved in chronic mental illnesses.

Cukkemane A et al.

Translational Psychiatry, 2021

Identification and Mechanistic Characterization of a Peptide Inhibitor of Glycogen Synthase Kinase (GSK3β) Derived from the Disrupted in Schizophrenia 1 (DISC1) Protein.

Saundh SL et al.

Acs Chemical Neuroscience, 2020

Genetic Effects of DISC1 and G72 (DAOA) on Visual Learning of Patients with Schizophrenia.

Chang JP et al.

Neuropsychiatric Disease and Treatment, 2020

Disorder Mediated Oligomerization of DISC1 Proteins Revealed by Coarse-Grained Molecular Dynamics Simulations.

Roche J et al.

The Journal of Physical Chemistry. B, 2019

Disrupted-in-schizophrenia 1 functional polymorphisms and D2 /D3 receptor availability: A [11 C]-(+)-PHNO imaging study.

Dahoun T et al.

Genes, Brain, and Behavior, 2019

Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia.

Liu CM et al.

Journal of Human Genetics, 2019

A DISC1 point mutation promotes oligomerization and impairs information processing in a mouse model of schizophrenia.

Kakuda K et al.

Journal of Biochemistry, 2019

Imaging Genetics Towards a Refined Diagnosis of Schizophrenia.

Jiang W et al.

Frontiers in Psychiatry, 2019

Association study of Disrupted-In-Schizophrenia-1 gene variants and tardive dyskinesia.

Lu JY et al.

Neuroscience Letters, 2018

The effect of the DISC1 Ser704Cys polymorphism on striatal dopamine synthesis capacity: an [18F]-DOPA PET study.

Dahoun T et al.

Human Molecular Genetics, 2018

Association between variations in the disrupted in schizophrenia 1 gene and schizophrenia: A meta-analysis.

Xu Y et al.

Gene, 2018

Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.

St Clair D et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2018

Gene polymorphisms of DISC1 is associated with schizophrenia: Evidence from a meta-analysis.

Wang HY et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2018

Biophysical insights from a single chain camelid antibody directed against the Disrupted-in-Schizophrenia 1 protein.

Yerabham ASK et al.

Plos One, 2018

Effects of DISC1 Polymorphisms on Resting-State Spontaneous Neuronal Activity in the Early-Stage of Schizophrenia.

Gou N et al.

Frontiers in Psychiatry, 2018

The association between gene variants and longitudinal structural brain changes in psychosis: a systematic review of longitudinal neuroimaging genetics studies.

Harari JH et al.

Npj Schizophrenia, 2017

The relationship between genetic risk variants with brain structure and function in bipolar disorder: A systematic review of genetic-neuroimaging studies.

Pereira LP et al.

Neuroscience and Biobehavioral Reviews, 2017

Additive sex-specific influence of common non-synonymous DISC1 variants on amygdala, basal ganglia, and white cortical surface area in healthy young adults.

Mühle C et al.

Brain Structure & Function, 2017

Association of DISC1, BDNF, and COMT polymorphisms with exploratory eye movement of schizophrenia in a Chinese Han population.

Dong Z et al.

Psychiatric Genetics, 2016

Misassembly of full-length Disrupted-in-Schizophrenia 1 protein is linked to altered dopamine homeostasis and behavioral deficits.

Trossbach SV et al.

Molecular Psychiatry, 2016

Microtubule and microtubule associated protein anomalies in psychiatric disease.

Marchisella F et al.

Cytoskeleton (hoboken, N.j.), 2016

Association of the DISC1 and NRG1 genetic polymorphisms with schizophrenia in a Chinese population.

He BS et al.

Gene, 2016

Variations in Disrupted-in-Schizophrenia 1 gene modulate long-term longitudinal differences in cortical thickness in patients with a first-episode of psychosis.

Vázquez-Bourgon J et al.

Brain Imaging and Behavior, 2016

DISC1 causes associative memory and neurodevelopmental defects in fruit flies.

Furukubo-Tokunaga K et al.

Molecular Psychiatry, 2016

Joint mouse-human phenome-wide association to test gene function and disease risk.

Wang X et al.

Nature Communications, 2016

26833085 (PubMed )
Supplement: ncomms10464-s1.pdf

DISC1-dependent Regulation of Mitochondrial Dynamics Controls the Morphogenesis of Complex Neuronal Dendrites.

Norkett R et al.

The Journal of Biological Chemistry, 2016

Effect of DISC1 polymorphisms on the long-term course of neurocognitive deficits in non-affective psychosis.

Vázquez-Bourgon J et al.

European Psychiatry : the Journal of the Association of European Psychiatrists, 2015

DISC1 regulates trafficking and processing of APP and Aβ generation.

Shahani N et al.

Molecular Psychiatry, 2015

Psychometric precision in phenotype definition is a useful step in molecular genetic investigation of psychiatric disorders.

Xu MK et al.

Translational Psychiatry, 2015

26125156 (PubMed )
Supplement: tp201586x1.doc

DISC1 gene and affective psychopathology: a combined structural and functional MRI study.

Opmeer EM et al.

Journal of Psychiatric Research, 2015

The Disrupted-in-Schizophrenia-1 Ser704Cys polymorphism and brain neurodevelopmental markers in schizophrenia and healthy subjects.

Takahashi T et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2015

DISC1 Ser704Cys impacts thalamic-prefrontal connectivity.

Liu B et al.

Brain Structure & Function, 2015

Imaging genetics and psychiatric disorders.

Hashimoto R et al.

Current Molecular Medicine, 2015

A brain-wide association study of DISC1 genetic variants reveals a relationship with the structure and functional connectivity of the precuneus in schizophrenia.

Gong X et al.

Human Brain Mapping, 2014

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Thomson PA et al.

Molecular Psychiatry, 2014

A Disrupted-in-Schizophrenia 1 Gene Variant is Associated with Clinical Symptomatology in Patients with First-Episode Psychosis.

Vázquez-Bourgon J et al.

Psychiatry Investigation, 2014

Haplotype analysis of the DISC1 Ser704Cys variant in Japanese suicide completers.

Ratta-apha W et al.

Psychiatry Research, 2014

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