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http://dx.doi.org/10.1002/dc.24862 | DOI Listing |
Biochem Soc Trans
September 2025
Department of Biochemistry, McGill University, Montréal, QC, Canada.
The MET receptor tyrosine kinase is a pivotal regulator of cellular survival, motility, and proliferation. Mutations leading to skipping of exon 14 (METΔex14) within the juxtamembrane domain of MET impair receptor degradation and prolong oncogenic signaling, contributing significantly to tumor progression across multiple cancer types. METΔex14 mutations are associated with aggressive clinical behavior, therapeutic resistance, and poor outcomes.
View Article and Find Full Text PDFNeuroendocrinology
September 2025
Introduction Neuroendocrine tumors (NETs) are a rare and heterogeneous group of neoplasms with both clinical and genetic diversity. The clinical applicability of molecular profiling using liquid biopsy for identifying actionable drug targets and prognostic indicators in patients with advanced NETs remains unclear. Methods In this study, we utilized a custom-made 37 genes panel of circulating tumor DNA (ctDNA) based on next-generation sequencing (NGS) in 47 patients with advanced NETs.
View Article and Find Full Text PDFIntroduction: Congenital Hypogonadotropic Hypogonadism (CHH) arises from defects in the synthesis, secretion, or action of gonadotropin-releasing hormone (GnRH), resulting in incomplete or absent pubertal development and various non-reproductive features. CHH is genetically heterogeneous, with over 50 genes implicated in its pathogenesis. This study aimed to elucidate the genetic variants of CHH in a cohort of patients from a single-center endocrinology unit.
View Article and Find Full Text PDFInt J Surg Pathol
September 2025
Department of Pathology, The Thirteenth People's Hospital of Chongqing, Chongqing, China.
Soft tissue sarcomas are a heterogeneous group of malignancies arising from mesenchymal cells. Recent advancements in genomic profiling have identified novel gene fusions in these tumors, offering new insights into their pathogenesis and potential therapeutic targets. Here, we describe a spindle cell sarcoma harboring a novel gene fusion.
View Article and Find Full Text PDFBioinformatics
September 2025
Department of Mathematical Sciences, The University of Texas at Dallas, TX United States.
Motivation: The advent of next-generation sequencing-based spatially resolved transcriptomics (SRT) techniques has reshaped genomic studies by enabling high-throughput gene expression profiling while preserving spatial and morphological context. Understanding gene functions and interactions in different spatial domains is crucial, as it can enhance our comprehension of biological mechanisms, such as cancer-immune interactions and cell differentiation in various regions. It is necessary to cluster tissue regions into distinct spatial domains and identify discriminating genes that elucidate the clustering result, referred to as spatial domain-specific discriminating genes (DGs).
View Article and Find Full Text PDF