Varaico: Literature-Extracted Genetic Variants

Gene:DISC1
Variant:p.R264Q
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DISC1

NM_018662.3:p.R264Q

Associated Papers

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

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

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

Guardiola-Ripoll M et al.

Scientific Reports, 2022

Mutations in DISC1 alter IP3R and voltage-gated Ca2+ channel functioning, implications for major mental illness.

Rittenhouse AR et al.

Neuronal Signaling, 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

The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity.

Su P et al.

Molecular Brain, 2020

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

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

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

Kakuda K et al.

Journal of Biochemistry, 2019

Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders.

Wilkinson B et al.

Biological Psychiatry, 2019

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

Lu JY et al.

Neuroscience Letters, 2018

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

Xu Y et al.

Gene, 2018

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

Missense mutation in DISC1 C-terminal coiled-coil has GSK3β signaling and sex-dependent behavioral effects in mice.

Dachtler J et al.

Scientific Reports, 2016

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Moselhy H et al.

Meta Gene, 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

Transmission disequilibrium of DISC1 haplotypes in Bulgarian families with affective disorder.

Ivanova MA et al.

Psychiatry Research, 2013

Human brain imaging studies of DISC1 in schizophrenia, bipolar disorder and depression: a systematic review.

Duff BJ et al.

Schizophrenia Research, 2013

DISC1 in adult ADHD patients: an association study in two European samples.

Jacobsen KK et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2013

Gender-specific association of TSNAX/DISC1 locus for schizophrenia and bipolar affective disorder in South Indian population.

Ram Murthy A et al.

Journal of Human Genetics, 2012

DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.

Malavasi EL et al.

Human Molecular Genetics, 2012

Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development.

Singh KK et al.

Neuron, 2011

DISC1: Structure, Function, and Therapeutic Potential for Major Mental Illness.

Soares DC et al.

Acs Chemical Neuroscience, 2011

DISC1 is associated with cortical thickness and neural efficiency.

Brauns S et al.

Neuroimage, 2011

Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.

Osbun N et al.

American Journal of Medical Genetics. Part A, 2011

Association of DISC1 gene with schizophrenia in families from two distinct French and Algerian populations.

Lepagnol-Bestel AM et al.

Psychiatric Genetics, 2010

Oligomer assembly of the C-terminal DISC1 domain (640-854) is controlled by self-association motifs and disease-associated polymorphism S704C.

Leliveld SR et al.

Biochemistry, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File006.xls › TypeIII

The DISC1 pathway modulates expression of neurodevelopmental, synaptogenic and sensory perception genes.

Hennah W et al.

Plos One, 2009

DISC1 mRNA expression is not influenced by common Cis-acting regulatory polymorphisms or imprinting.

Hayesmoore JB et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2008

Association study of polymorphisms between DISC1 and schizophrenia in a Korean population.

Kim HJ et al.

Neuroscience Letters, 2008

The DISC locus in psychiatric illness.

Chubb JE et al.

Molecular Psychiatry, 2008

Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments.

Palo OM et al.

Human Molecular Genetics, 2007

The genetics and biology of DISC1--an emerging role in psychosis and cognition.

Porteous DJ et al.

Biological Psychiatry, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."