ArticleJournal of personalized medicine2021
Identification of Rare Mutations of Two Presynaptic Cytomatrix Genes
Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Autism-like behavior induced by conditional ablation of the Bassoon gene in GABAergic interneurons.Molecular psychiatry · 2026Article
- Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.International journal of molecular sciences · 2026Article
- Altered Molecular Composition of a Specific Subset of Prefrontal Cortical Excitatory Synapses in Schizophrenia.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Integrating genetics and transcriptomics to characterize shared mechanisms in digestive diseases and psychiatric disorders.Communications biology · 2025Article
- Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model : Novel Insights into Pontocerebellar Hypoplasia Type 3.Galen medical journal · 2025Article
- Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.Frontiers in neurology · 2025Article
- Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.Molecular genetics & genomic medicine · 2024Article
- Whole exome sequencing and proteomics-based investigation of the pathogenesis of coronary artery disease with diffuse long lesion.Journal of cardiothoracic surgery · 2024Article
- Association ofMolecular syndromology · 2024Article
- Behavioral and histological analyses of the mouseFrontiers in neuroscience · 2024Article
- Whole Genome Sequencing Revealed Inherited Rare Oligogenic Variants Contributing to Schizophrenia and Major Depressive Disorder in Two Families.International journal of molecular sciences · 2023Article
- Article
- Molecular Abnormalities in BTBR Mice and Their Relevance to Schizophrenia and Autism Spectrum Disorders: An Overview of Transcriptomic and Proteomic Studies.Biomedicines · 2023Article
- Consensus Clustering and Survival-Related Genes of Cuproptosis in Cutaneous Melanoma.Mediators of inflammation · 2023Article
- Article
- Multi-Omics Analysis Reveals Myelin, Presynaptic and Nicotinate Alterations in the Hippocampus of G72/G30 Transgenic Mice.Journal of personalized medicine · 2022Article
- Molecular mechanisms of synaptogenesis.Frontiers in synaptic neuroscience · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Schizophrenia and bipolar disorder are severe mental disorders with a major component of genetic factors in their etiology. Rare mutations play a significant role in these two disorders, and they are highly heterogeneous and personalized. Identification of personalized mutations is essential for the establishment of molecular diagnosis, providing insight into pathogenesis and guiding the personalized treatment for each affected patient. We conducted whole-genome sequencing analysis of families with schizophrenia and bipolar disorder to search for their genetic underpinnings. This report identified a rare missense mutation Arg1087Gln of
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Registered trials
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.