ArticleMolecular genetics & genomic medicine2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- STXBP1 Variants Associated With Epilepsy With Variable Severity.CNS neuroscience & therapeutics · 2026Article
- Proteasomal control of transcription factors: mechanisms, regulation and dysregulation.Cellular and molecular life sciences : CMLS · 2026Review
- Molecular Mediators of Neutrophil Primary Granule Release Following Acute Ischemic Stroke and their Associated Epigenetic Modulation by HDAC2.Molecular neurobiology · 2025Article
- Novel Splice Site Pathogenic Variant in STXBP1 Gene in a Child with Intellectual Disability, Epilepsy, and Autism Spectrum Disorder: A Case Report.Molecular syndromology · 2024Article
- Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.Genome medicine · 2024Article
- GABAergic/Glycinergic and Glutamatergic Neurons Mediate Distinct Neurodevelopmental Phenotypes ofThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants inNeurology · 2023Article
- An Integrated Computational Analysis of High-Risk SNPs in Angiopoietin-like Proteins (ANGPTL3 and ANGPTL8) Reveals Perturbed Protein Dynamics Associated with Cancer.Molecules (Basel, Switzerland) · 2023Article
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- Assessing the landscape of STXBP1-related disorders in 534 individuals.Brain : a journal of neurology · 2022Article
- Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.American journal of human genetics · 2021Article
- STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.Journal of neurochemistry · 2021Review
- Targeted stabilization of Munc18-1 function via pharmacological chaperones.EMBO molecular medicine · 2021Article
- Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.Frontiers in neurology · 2021Review
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- STXBP1-associated neurodevelopmental disorder: a comparative study of behavioural characteristics.Journal of neurodevelopmental disorders · 2019Article
- Pediatric Epilepsy Mechanisms: Expanding the Paradigm of Excitation/Inhibition Imbalance.Children (Basel, Switzerland) · 2019Review
- AWESOME: a database of SNPs that affect protein post-translational modifications.Nucleic acids research · 2019Article
Corrections and comments
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Authors and funding
18 authors at 12 institutions in 1 country.
Funding
Abstract
backgroundSyntaxin-binding protein 1, encoded by
methodsWe report 11 patients with pathogenic de novo mutations in
resultsPathogenic variants are significantly more likely to occur at highly conserved locations than population variants, and be buried inside the protein domain. Pathogenic mutations are also more likely to destabilize the domain structure compared with population variants, increasing the proportion of (partially) unfolded domains that are prone to aggregation or degradation. We were unable to detect any genotype-phenotype correlation, but unlike previously reported cases, most of the DDD patients with
conclusionVariants across
Indexed as
Identifiers
What OpenQuestion holds
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.