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Rare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Nat Commun
January 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participants. Rare protein-truncating and deleterious missense variants are collapsed to perform gene burden tests.
View Article and Find Full Text PDFTrophectoderm-specific gene manipulation using adeno-associated viral vectors.
Exp Anim
January 2025
Research Institute for Microbial Diseases, Osaka University.
In mammals, blastocyst-stage trophectoderm (TE) contacts the maternal body at the time of implantation and forms the placenta after implantation, which supports the development of the fetus. Studying gene function in TE and placenta is important to understand normal implantation and pregnancy processes and their dysfunction. However, genetically modified mice are commonly generated by manipulating pronuclear-stage zygotes, which modify both the genome of the fetus and the placenta.
View Article and Find Full Text PDFToo Much of a Good Thing: Updated Current Management and Perinatal Outcomes of Polyhydramnios.
J Med Ultrasound
November 2024
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Amniotic fluid assessment is crucial in prenatal ultrasound to monitor fetal conditions, with polyhydramnios, characterized by excessive amniotic fluid, affecting 1%-2% of pregnancies. Polyhydramnios is linked to complications such as placental abruption, preterm labor, congenital anomalies, and postpartum hemorrhage, emphasizing the need for early detection and management. While idiopathic causes account for 60%-70% of cases, other causes include impaired fetal swallowing and increased urine production due to maternal, fetal, and placental conditions.
View Article and Find Full Text PDFThe Fetal Environment and the Development of Hypertension-The Epigenetic Modification by Glucocorticoids.
Int J Mol Sci
January 2025
Department of Clinical Laboratory, School of Medicine, International University of Health and Welfare, Otawara 324-8501, Japan.
Intrauterine growth restriction (IUGR) is a risk factor for postnatal cardiovascular, metabolic, and psychiatric disorders. In most IUGR models, placental dysfunction that causes reduced 11β-hydroxysteroid dehydrogenase 2 (11βHSD2) activity, which degrades glucocorticoids (GCs) in the placenta, resulting in fetal GC overexposure. This overexposure to GCs continues to affect not only intrauterine fetal development itself, but also the metabolic status and neural activity in adulthood through epigenetic changes such as microRNA change, histone modification, and DNA methylation.
View Article and Find Full Text PDFThe Molecular Biology of Placental Transport of Calcium to the Human Foetus.
Int J Mol Sci
January 2025
Department of Clinical Biochemistry, University Hospital Southampton NHS Foundation Trust, Southampton General Hospital, Southampton SO16 6YD, UK.
From fertilisation to delivery, calcium must be transported into and within the foetoplacental unit for intracellular signalling. This requires very rapid, precisely located Ca transfers. In addition, from around the eighth week of gestation, increasing amounts of calcium must be routed directly from maternal blood to the foetus for bone mineralisation through a flow-through system, which does not impact the intracellular Ca concentration.
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