Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s41467-024-55787-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFReply to: On the giant deformation and ferroelectricity of guanidinium nitrate.
Nat Commun
January 2025
Smart Materials Lab, New York University Abu Dhabi, PO Box 129188, Abu Dhabi, UAE.
On the giant deformation and ferroelectricity of guanidinium nitrate.
Nat Commun
January 2025
Faculty of Chemistry, Adam Mickiewicz University, Poznań, Poland.
VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFGiant pit craters on the modern seafloor above magma-induced hydrothermal vent complexes of Scotia Sea, offshore Antarctica.
Sci Rep
January 2025
Department of Geology, School of Natural Sciences, Trinity College Dublin, Dublin, Ireland.
Massive injection of C depleted carbon to the ocean and atmosphere coincided with major environmental upheaval multiple times in the geological record. For several events, the source of carbon has been attributed to explosive venting of gas produced when magmatic sills intruded organic-rich sediment. The concept mostly derives from studies of a few ancient sedimentary basins with numerous hydrothermal vent complexes (HTVCs) where craters appear to have formed across large areas of the seafloor at the same time, but good examples remain rare in strata younger than the Early Eocene.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!