ArticleMolecular psychiatry2013
Cis-acting regulation of brain-specific ANK3 gene expression by a genetic variant associated with bipolar disorder.
Article in Molecular psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genomic dissection of methane emission traits in cattle: A meta-GWAS and heritability analysis across populations.PloS one · 2026Pooled it
- A Systematic Review of Genetic Polymorphisms Associated with Bipolar Disorder Comorbid to Substance Abuse.Genes · 2022Pooled it
- Surveying alternative transcripts of disease-associated genes and their cell type specificity - a case study with ANK3.Translational psychiatry · 2026Article
- Ankyrin-G and Its Binding Partners in Neurons: Orchestrating the Molecular Structure of the Axon Initial Segment.Biomolecules · 2025Review
- Multiplexed spatial mapping of chromatin features, transcriptome and proteins in tissues.Nature methods · 2025Article
- The Primary Cilia are Associated with the Axon Initial Segment in Neurons.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Multiplexed spatial mapping of chromatin features, transcriptome, and proteins in tissues.bioRxiv : the preprint server for biology · 2024Article
- Abnormal patterns of sleep and waking behaviors are accompanied by neocortical oscillation disturbances in an Ank3 mouse model of epilepsy-bipolar disorder comorbidity.Translational psychiatry · 2023Article
- Review
- Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.Molecular syndromology · 2023Article
- Palmitoylation controls the stability of 190 kDa ankyrin-G in dendritic spines and is regulated by ZDHHC8 and lithium.Frontiers in molecular neuroscience · 2023Article
- Distinct ankyrin repeat subdomains control VAPYRIN locations and intracellular accommodation functions during arbuscular mycorrhizal symbiosis.Nature communications · 2022Article
- Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.Experimental & molecular medicine · 2022Review
- The role of microRNAs in diseases and related signaling pathways.Molecular biology reports · 2022Review
- Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.Translational psychiatry · 2022Article
- Calcium imaging reveals depressive- and manic-phase-specific brain neural activity patterns in a murine model of bipolar disorder: a pilot study.Translational psychiatry · 2021Article
- Ankyrin-G Heterozygous Knockout Mice Display Increased Sensitivity to Social Defeat Stress.Complex psychiatry · 2021Article
- Pathophysiological Roles of Abnormal Axon Initial Segments in Neurodevelopmental Disorders.Cells · 2021Review
- Ankyrins and neurological disease.Current opinion in neurobiology · 2021Review
- Modeling protein-protein interactions in axon initial segment to understand their potential impact on action potential initiation.Neural regeneration research · 2021Article
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
Several genome-wide association studies for bipolar disorder (BD) have found a strong association of the Ankyrin 3 (ANK3) gene. This association spans numerous linked single-nucleotide polymorphisms (SNPs) in an ~250-kb genomic region overlapping ANK3. The associated region encompasses predicted regulatory elements as well as two of the six validated alternative first exons, which encode distinct protein domains at the N-terminus of the protein also known as Ankyrin-G. Using RNA ligase-mediated rapid amplification of cDNA ends to identify novel transcripts in conjunction with a highly sensitive, exon-specific multiplexed mRNA expression assay, we detected differential regulation of distinct ANK3 transcription start sites and coupling of specific 5' ends with 3' mRNA splicing events in postmortem human brain and human stem cell-derived neural progenitors and neurons. Furthermore, allelic variation at the BD-associated SNP rs1938526 correlated with a significant difference in cerebellar expression of a brain-specific ANK3 transcript. These findings suggest a brain-specific cis-regulatory transcriptional effect of ANK3 that may be relevant to BD pathophysiology.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.