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Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Am J Hum Genet
January 2025
Department of Neurology, Washington University in St. Louis, St. Louis, MO, USA. Electronic address:
Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.
View Article and Find Full Text PDFThe effects of prenatal administration of tumor necrosis factor-α on osteocalcin and RANK expression in newborn mice.
J Mol Histol
January 2025
Department of Anatomy and Cell Biology, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Tumor necrosis factor-α (TNF-α) induces a multitude of actions and consequences in bone and cartilage resorption and immune response augmentation. In this research, we aimed to investigate the effects of TNF-α on osteogenesis parameters in newborn mice. Experimental research was conducted on 42 pregnant mice, dividing into seven groups as follows: control (no injection), vehicle 1 (PBS injection on 7-9th pregnancy days (PD)), vehicle 2 (PBS injection during pregnancy), experimental 1 (injection of 10 ng/kg of TNF-α on 7-9th PD), experimental 2 (injection of 100 ng/kg of TNF-α on 7-9th PD), experimental 3 (injection of 10 ng/kg of TNF-α during pregnancy) and experimental 4 (injection of 100 ng/kg of TNF-α during pregnancy).
View Article and Find Full Text PDFCarbapenem-resistant uses mucus metabolism to facilitate gastrointestinal colonization.
mBio
January 2025
Department of Microbiology, Genetics, & Immunology, Michigan State University, East Lansing, Michigan, USA.
The emergence and global spread of carbapenem-resistant complex species present a pressing public health challenge. Carbapenem-resistant spp. cause a wide variety of infections, including septic shock fatalities in newborns and immunocompromised adults.
View Article and Find Full Text PDFElectroconvulsive shock and transcranial magnetic stimulation do not alter the survival or spine density of adult-born striatal neurons.
PLoS One
January 2025
Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.
Adult neurogenesis has most often been studied in the hippocampus and subventricular zone-olfactory bulb, where newborn neurons contribute to a variety of behaviors. A handful of studies have also investigated adult neurogenesis in other brain regions, but relatively little is known about the properties of neurons added to non-canonical areas. One such region is the striatum.
View Article and Find Full Text PDFHydrocortisone Attenuates the Development of Malformations of the Polymicrogyria Spectrum.
Int J Dev Neurosci
February 2025
Neurodegeneration and Repair Lab, Department of Pathology, Postgraduate Program in Anatomical Pathology, Faculty of Medicine, Universitary Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Most of the malformations of the polymicrogyria spectrum are caused by destructive lesions of the neocortex during the third trimester of pregnancy, triggered by hypoxic-ischemic, hemorrhagic or infectious events, with neuroinflammation as a common pathophysiological mechanism. Our study investigated hydrocortisone treatment in attenuating inflammation, malformations development and seizures predisposition in mice subjected to neonatal transcranial freeze lesion. Our results show attenuation of malformation and predisposition to febrile seizures, with concomitant reduction of macrophages/microglia after neonatal freeze lesion, polarizing them towards an anti-inflammatory profile.
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