Multiple rare SAPAP3 missense variants in trichotillomania and OCD
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Construct validity for the Sapap3-KO OCD model is supported by more frequent SAPAP3 mutations in OCD patients than in healthy controls.
“Construct validity for this disease model is supported by more frequent SAPAP3 mutations in OCD patients than in healthy controls [7].”
From Projection-specific deficits in synaptic transmission in adult Sapap3-knockout mice (2020) · cites this paper as [7]
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Self-citation
- Authors
- Züchner, S., Wendland, J. R., Ashley-Koch, A. E., Collins, A. L., Tran-Viet, K. N., Quinn, K., Timpano, K. C., Cuccaro, M. L., Pericak-Vance, M. A., Steffens, D. C., Krishnan, K. R., Feng, G., & Murphy, D. L.
- Affiliations
- National Institutes of Health (US)
- Duke Medical Center (US)
- University of Miami (US)
- Venue
- Molecular Psychiatry
- Published
- 2008-12-19
- Volume
- 14
- Issue
- 1
- Pages
- 6-9
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- PMC
- PMC2803344
- OpenAlex
- W1968389830
- Cited by
- 196
- References
- 9
- Citations by year
- 2026: 5 · 2025: 4 · 2024: 10 · 2023: 5 · 2022: 11 · 2021: 8 · 2020: 13 · 2019: 16 · 2018: 12 · 2017: 10 · 2016: 12 · 2015: 17 · 2014: 18 · 2013: 10 · 2012: 11
- FWCI
- 11.53
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Mental Health (ZIAMH000336)
- National Institute of Neurological Disorders and Stroke (P01NS026630)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Obsessive-Compulsive Spectrum Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- missense mutations, trichotillomania, obsessive-compulsive disorder, rare variants, astrocyte-neuron interaction, prepulse inhibition, compulsive behavior
- MeSH terms
- SAP90-PSD95 Associated Proteins, Animals, Humans, Nerve Tissue Proteins, Obsessive-Compulsive Disorder, Trichotillomania, Mutation, Missense
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