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Reciprocal and non-reciprocal effects of clinically relevant SETBP1 protein dosage changes.
Hum Mol Genet
January 2025
Department of Human Genetics, McGill University, 3666 McTavish Street, Montreal, QC H3A 1Y2, Canada.
Many genes in the human genome encode proteins that are dosage sensitive, meaning they require protein levels within a narrow range to properly execute function. To investigate if clinically relevant variation in protein levels impacts the same downstream pathways in human disease, we generated cell models of two SETBP1 syndromes: Schinzel-Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disease (SHD), where SGS is caused by too much protein, and SHD is caused by not enough SETBP1. Using patient and sex-matched healthy first-degree relatives from both SGS and SHD SETBP1 cases, we assessed how SETBP1 protein dosage affects downstream pathways in human forebrain progenitor cells.
View Article and Find Full Text PDFMelatonin secretion across puberty: A systematic review and meta-analysis.
Psychoneuroendocrinology
January 2025
Danish Center for Sleep Medicine, Rigshospitalet, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address:
Background: Melatonin levels decrease with aging and substantially during puberty. Studies have presented distinct melatonin levels in patients with disorders related to their pubertal development compared to healthy controls. The discrepancy suggests that a decrease in melatonin concentrations seen during adolescence might be related to the physical, hormonal, and/or neuronal alterations that occur during the pubertal period.
View Article and Find Full Text PDFLatent motor growth trajectories of term and preterm infants based on caregiver report.
Child Neuropsychol
January 2025
Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor, USA.
Early motor development is a key predictor of development in other skill domains and specific neurodevelopmental disorders, but it is typically measured as achievement of milestones rather than rate of development. To explore the value of the latter approach, this study utilized a novel caregiver report method to examine differences in the developmental trajectory of motor development in term-born compared to preterm-born infants. Caregiver-infant dyads (331 term, 240 preterm) were followed from birth through 12 months (48% female; 6.
View Article and Find Full Text PDFSex differences in the murine HPA axis after acute and repeated restraint stress.
Stress
December 2025
Department of Preclinical Fluid Biomarkers & Occupancy, H. Lundbeck A/S, Valby, Denmark.
Chronic stress and stress-related mental illnesses such as major depressive disorder (MDD) constitute some of the leading causes of disability worldwide with a higher prevalence in women compared to men. However, preclinical research into stress and MDD is heavily biased toward using male animals only. Aberrant activity of the hypothalamic-pituitary-adrenal (HPA) axis has been linked to the development of MDD and several animal models of MDD have been established based on HPA axis dysregulation.
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