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http://dx.doi.org/10.1016/j.jdcr.2022.05.029 | DOI Listing |
J Med Case Rep
January 2025
Department of Hepatic Biliary Pancreatic Medicine, First Hospital of Jilin University, 1 Xinmin Avenue, Changchun, 130021, China.
Background: Dyskeratosis congenita is a rare genetic disease due to telomere biology disorder and characterized by heterogeneous clinical manifestations and severe complications. "Porto-sinusoidal vascular disease" has been recently proposed, according to new diagnostic criteria, to replace the term "idiopathic non-cirrhotic portal hypertension." TERT plays an important role in telomeric DNA repair and replication.
View Article and Find Full Text PDFCancer Metastasis Rev
January 2025
School of Biomedical Engineering, University of Technology Sydney, Ultimo, NSW, 2007, Australia.
Mutations in the KRAS gene are well-known tumourigenic drivers of colorectal, pancreatic and lung cancers. Mechanistically, these mutations promote uncontrolled cell proliferation and alter the tumour microenvironment during early carcinoma stages. Given their critical carcinogenic functions, significant progress has been made in developing KRAS inhibitors for cancer treatment.
View Article and Find Full Text PDFJ Pathol
January 2025
Laboratory of Pathology, Center for Cancer Research, NCI, Bethesda, MD, USA.
Rhabdomyosarcoma (RMS) is a family of phenotypically myogenic paediatric cancers consisting of two major subtypes: fusion-positive (FP) RMS, most commonly involving the PAX3::FOXO1 fusion gene, formed by the fusion of paired box 3 (PAX3) and forkhead box O1 (FOXO1) genes, and fusion-negative (FN) RMS, lacking these gene fusions. In humans, DNA methylation patterns distinguish these two subtypes as well as mutation-associated subsets within these subtypes. To investigate the biological factors responsible for these methylation differences, we profiled DNA methylation in RMS tumours derived from genetically engineered mouse models (GEMMs) in which various driver mutations were introduced into different myogenic lineages.
View Article and Find Full Text PDFTurk Arch Pediatr
January 2025
Pathology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB's molecular hallmark is the somatic mutation p.
View Article and Find Full Text PDFViruses
November 2024
Department of Virology & Biotechnology, ICMR-National Institute for Research in Tuberculosis, Chennai 600031, India.
The biological characteristics of early transmitted/founder (T/F) variants are crucial factors for viral transmission and constitute key determinants for the development of better therapeutics and vaccine strategies. The present study aimed to generate T/F viruses and to characterize their biological properties. For this purpose, we constructed 18 full-length infectious molecular clones (IMCs) of HIV from recently infected infants.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!