SMG6 localizes to the chromatoid body and shapes the male germ cell transcriptome to drive spermatogenesis

Nucleic Acids Res. 2022 Nov 11;50(20):11470-11491. doi: 10.1093/nar/gkac900. ABSTRACT Nonsense-mediated RNA decay (NMD) is a highly conserved and selective RNA turnover pathway that depends on the endonuclease SMG6. Here, we show that SMG6 is essential for male germ cell differentiation in mice. Germ-cell conditional knockout (cKO) of Smg6 induces extensive…

Gene set analysis of transcriptomics data identifies new biological processes associated with early markers of atherosclerosis but not with those of osteoporosis: Atherosclerosis-osteoporosis co/multimorbidity study in the Young Finns Study

Atherosclerosis. 2022 Nov;361:1-9. doi: 10.1016/j.atherosclerosis.2022.10.005. Epub 2022 Oct 8. ABSTRACT AIM: We aimed at identifying the shared biological processes underlying atherosclerosis-osteoporosis co/multimorbidity. METHODS: We performed gene set analysis (GSA) of whole-blood transcriptomic data to identify biological processes shared by the early markers of these two diseases. Early markers of diseases,…

Early development of negative and positive affect: Implications for ADHD symptomatology across three birth cohorts

Dev Psychopathol. 2021 Dec;33(5):1837-1848. doi: 10.1017/s0954579421001012. Epub 2021 Oct 15. ABSTRACT High levels of early emotionality (of either negative or positive valence) are hypothesized to be important precursors to early psychopathology, with attention-deficit/hyperactivity disorder (ADHD) a prime early target. The positive and negative affect domains are prime examples of Research…

Residential green environments are associated with human milk oligosaccharide diversity and composition

Sci Rep. 2023 Jan 5;13(1):216. doi: 10.1038/s41598-022-27317-1. ABSTRACT Increased exposure to greener environments has been suggested to lead to health benefits in children, but the associated mechanisms in early life, particularly via biological mediators such as altered maternal milk composition, remain largely unexplored. We investigated the associations between properties of…

Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

Genome Biol. 2022 Dec 27;23(1):268. doi: 10.1186/s13059-022-02837-1. ABSTRACT BACKGROUND: Genetic variants within nearly 1000 loci are known to contribute to modulation of blood lipid levels. However, the biological pathways underlying these associations are frequently unknown, limiting understanding of these findings and hindering downstream translational efforts such as drug target discovery.

Prenatal exposure to phenols and benzophenones in relation to markers of male reproductive function in adulthood

Front Endocrinol (Lausanne). 2022 Dec 9;13:1071761. doi: 10.3389/fendo.2022.1071761. eCollection 2022. ABSTRACT INTRODUCTION: Environmental exposure during fetal life may disrupt testicular development. In humans, a limited number of studies have investigated whether these adverse effects persist into adulthood. Using data from a prospective, population-based birth cohort study, The Copenhagen Mother-Child cohort,…

Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis

Int J Mol Sci. 2022 Dec 11;23(24):15726. doi: 10.3390/ijms232415726. ABSTRACT Only 3-5% of heavy alcohol users develop acute alcohol pancreatitis (AAP). This suggests that additional triggers are required to initiate the inflammatory process. Genetic susceptibility contributes to the development of AAP, and SPINK1 mutation is a documented risk factor. We…

Unpredictable maternal sensory signals in caregiving behavior are associated with child effortful control

PLoS One. 2022 Dec 20;17(12):e0279384. doi: 10.1371/journal.pone.0279384. eCollection 2022. ABSTRACT Emerging evidence suggests that exposure to unpredictable patterns of maternal sensory signals during infancy is associated with child neurodevelopment, including poorer effortful control. However, longitudinal effects on child development and possible sex differences are understudied. The aims of the present…

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