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Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Turk Arch Pediatr
January 2025
Federal State Budgetary Scientific Institution, Research Center for Medical Genetics, Moscow, Russia.
Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.
View Article and Find Full Text PDFDownstream transcription promotes human recurrent CNV associated AT-rich sequence mediated genome rearrangements in yeast.
iScience
December 2024
Guangzhou Municipal Key Laboratory of Metabolic Diseases and Reproductive Health, The Affiliated Guangdong Second Provincial General Hospital of Jinan University, Guangzhou, China.
AT-rich sequence can cause structure variants such as translocations and its instability can be accelerated by replication stresses. When human 16p11.2 or 22q11.
View Article and Find Full Text PDFFusion Genes in Myeloid Malignancies.
Cancers (Basel)
December 2024
Department of Haematology, Singapore General Hospital, Singapore 169608, Singapore.
Fusion genes arise from gross chromosomal rearrangements and have been closely linked to oncogenesis. In myeloid malignancies, fusion genes play an integral role in the establishment of diagnosis and prognostication. In the clinical management of patients with acute myeloid leukemia, fusion genes are deeply incorporated in risk stratification criteria to guide the choice of therapy.
View Article and Find Full Text PDFDiagnostic and Prognostic/Therapeutic Significance of Comprehensive Analysis of Bone and Soft Tissue Tumors Using Optical Genome Mapping and Next-Generation Sequencing.
Mod Pathol
December 2024
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:
Detecting somatic structural variants (SVs), copy number variants (CNVs), and mutations in bone and soft tissue tumors is essential for accurately diagnosing, treating, and prognosticating outcomes. Optical genome mapping (OGM) holds promise to yield useful data on SVs and CNVs but requires fresh or snap-frozen tissues. This study aimed to evaluate the clinical utility of data from OGM compared with current standard-of-care cytogenetic testing.
View Article and Find Full Text PDFYAP1::KMT2A-rearranged sarcomas harbor a unique methylation profile and are distinct from sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma.
Virchows Arch
December 2024
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, 350 W. 11thStreet, Room 4086, Indianapolis, IN, 46202, USA.
Sclerosing epithelioid fibrosarcoma (SEF) was originally described as a peculiar variant of fibrosarcoma in 1995. Subsequent studies showed that conventional SEF was associated with both immunohistochemical expression of MUC4 and EWSR1/FUS gene rearrangements with CREB3L1 as the predominant fusion partner. Since then, a distinct group of fibrous tumors characterized by YAP1::KMT2A and KMT2A::YAP1 gene rearrangements and SEF-like morphology has been described.
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