Publications by authors named "A A Schenck"

Article Synopsis
  • This study identifies a new type of autosomal recessive intellectual disability linked to genetic variants in the GTF3C3 gene, which is essential for proper RNA polymerase III activity.
  • Researchers employed various methods, including exome sequencing and Drosophila models, to analyze the effects of GTF3C3 variants found in twelve affected individuals from seven families.
  • The results showed that the variants lead to significant functional losses in the gene, correlating with symptoms like intellectual disability, motor issues, seizures, and brain structure abnormalities.
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Introduction: Knowledge of the natural and temporal course of a disease is important when deciding if an intervention is appropriate. In the case of Ménière's disease (MD), there is some evidence that attacks diminish over time, but the topic remains controversial. A conservative approach to surgery is usually followed in northern Europe, and leads to strict patient selection before considering surgery.

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Genes encoding the KDM5 family of transcriptional regulators are disrupted in individuals with intellectual disability (ID). To understand the link between KDM5 and ID, we characterized five Drosophila strains harboring missense alleles analogous to those observed in patients. These alleles disrupted neuroanatomical development, cognition and other behaviors, and displayed a transcriptional signature characterized by the downregulation of many ribosomal protein genes.

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Pre-Pulse Inhibition (PPI) is a neural process where suppression of a startle response is elicited by preceding the startling stimulus (Pulse) with a weak, non-startling one (Pre-Pulse). Defective PPI is widely employed as a behavioural endophenotype in humans and mammalian disorder-relevant models for neuropsychiatric disorders. We have developed a user-friendly, semi-automated, high-throughput-compatible light-off jump response PPI paradigm, with which we demonstrate that PPI, with similar parameters measured in mammals, exists in adults of this model organism.

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Article Synopsis
  • Mendelian neurodevelopmental disorders caused by chromatin modification gene variants are known as Mendelian disorders of the epigenetic machinery (MDEMs), often leading to symptoms like intellectual disability and obesity.
  • This study focuses on Kleefstra syndrome (KLFS), linked to a specific gene mutation (EHMT1), and investigates its metabolic and growth characteristics in 62 individuals.
  • Results show a concerning 60% prevalence of childhood overweight/obesity, common short stature, thyroid issues, and decreased bone mineralization, emphasizing the need for monitoring health and lifestyle in affected individuals.
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