ArticleMolecular psychiatry2022
Structure-function relationships of the disease-linked A218T oxytocin receptor variant.
Article in Molecular psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 34 citations in OpenAlex.
- Functional disruption of oxytocin projections participates atypical social and anxiety-like behaviours in BTBR mouse model of autism.Open biology · 2025Article
- OXTR-mediated signaling in astrocytes contributes to anxiolysis.Molecular psychiatry · 2025Article
- Functional significance of some common oxytocin receptor SNPs involved in complex human traits.BMC molecular and cell biology · 2025Article
- Predicting oxytocin binding dynamics in receptor genetic variants through computational modeling.npj women's health · 2025Article
- Oxytocin Receptor Single-Nucleotide Polymorphisms Are Related to Maternal-Infant Co-Occupation and Infant Sensory Processing.Children (Basel, Switzerland) · 2024Article
- Decoding the genetic landscape of autism: A comprehensive review.World journal of clinical pediatrics · 2024Article
- Article
- Detection, processing and reinforcement of social cues: regulation by the oxytocin system.Nature reviews. Neuroscience · 2023Review
- Monitoring oxytocin signaling in the brain: More than a love story.Comprehensive psychoneuroendocrinology · 2023Review
- Oxytocin Receptor Expression in Hair Follicle Stem Cells: A Promising Model for Biological and Therapeutic Discovery in Neuropsychiatric Disorders.Stem cell reviews and reports · 2023Article
- AI-based identification of therapeutic agents targeting GPCRs: introducing ligand type classifiers and systems biology.Chemical science · 2023Article
- pyGOMoDo: GPCRs modeling and docking with python.Bioinformatics (Oxford, England) · 2023Article
- Advances in human oxytocin measurement: challenges and proposed solutions.Molecular psychiatry · 2023Review
- Altered Cerebral Curvature in Preterm Infants Is Associated with the Common Genetic Variation Related to Autism Spectrum Disorder and Lipid Metabolism.Journal of clinical medicine · 2022Article
- Oxytocin accelerates tight junction formation and impairs cellular migration in 3D spheroids: evidence from Gapmer-induced exon skipping.Frontiers in cellular neuroscience · 2022Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Various single nucleotide polymorphisms (SNPs) in the oxytocin receptor (OXTR) gene have been associated with behavioral traits, autism spectrum disorder (ASD) and other diseases. The non-synonymous SNP rs4686302 results in the OXTR variant A218T and has been linked to core characteristics of ASD, trait empathy and preterm birth. However, the molecular and intracellular mechanisms underlying those associations are still elusive. Here, we uncovered the molecular and intracellular consequences of this mutation that may affect the psychological or behavioral outcome of oxytocin (OXT)-treatment regimens in clinical studies, and provide a mechanistic explanation for an altered receptor function. We created two monoclonal HEK293 cell lines, stably expressing either the wild-type or A218T OXTR. We detected an increased OXTR protein stability, accompanied by a shift in Ca
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