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Expanding the Genotypic and Phenotypic Spectrum of -Related Conditions: Three More Cases.
Genes (Basel)
December 2024
Research Centre for Medical Genetics, 1 Moskvorechye St., 115522 Moscow, Russia.
Introduction: Pathogenic variants in the gene are linked to a spectrum of syndromes that exhibit partial clinical overlap. Hemizygous loss-of-function variants are considered lethal in males, while heterozygous loss-of-function variants generally result in oro-facial-digital syndrome type 1. A reported phenotype, Simpson-Golabi-Behmel syndrome type 2, was published once but remains controversial, with many specialists questioning its validity and arguing about its continued listing in the OMIM database.
View Article and Find Full Text PDFAssessing the Utility of DNA Methylation Profiling in the Classification of Myogenic Sarcomas of Bone.
Int J Surg Pathol
January 2025
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA.
The diagnosis of primary leiomyosarcoma (LMS) of bone is generally established based on integrative findings of morphologic features, immunohistochemical staining, and clinical and radiological findings. There are no specific genetic alterations that can be used to confirm the diagnosis of LMS in challenging diagnoses of bone sarcomas with myogenic differentiation. In this study, we assessed the utility of a DNA methylation-based classifier as an ancillary diagnostic tool for subclassifying bone sarcomas with myogenic differentiation.
View Article and Find Full Text PDFGenetic variation of hemolysin co-regulated protein 1 affects the immunogenicity and pathogenicity of Burkholderia pseudomallei.
PLoS Negl Trop Dis
January 2025
Department of Microbiology and Immunology, Faculty of Tropical Medicine, Mahidol University, Bangkok, Thailand.
Hemolysin co-regulated protein 1 (Hcp1) is a component of the cluster 1 Type VI secretion system (T6SS1) that plays a key role during the intracellular lifecycle of Burkholderia pseudomallei. Hcp1 is recognized as a promising target antigen for developing melioidosis diagnostics and vaccines. While the gene encoding Hcp1 is retained across B.
View Article and Find Full Text PDFRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFThe HNH endonuclease domain of the giant virus MutS7 specifically binds to branched DNA structures with single-stranded regions.
DNA Repair (Amst)
December 2024
Agriculture and Marine Science Program, Graduate School of Integrated Arts and Science, Kochi University, Nankoku, Kochi 783-8502, Japan; Agricultural Science, Graduate School of Integrated Arts and Science, Kochi University, Nankoku, Kochi 783-8502, Japan. Electronic address:
Most giant viruses including Mimiviridae family build large viral factories within the host cytoplasms. These giant viruses are presumed to possess specific genes that enable the rapid and massive replication of their large double-stranded DNA genomes within viral factories. It has been revealed that a functionally uncharacterized protein, MutS7, is expressed during the operational phase of the viral factory.
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