EXT1 as an Independent Prognostic Biomarker in Breast Cancer: Its Correlation with Immune Infiltration and Clinicopathological Parameters [PDF]
ImmunoExostosin 1 (EXT1) encodes a type II transmembrane glycosyltransferase residing in the endoplasmic reticulum and plays an essential role in the elongation of heparan sulfate chain biosynthesis. Additionally, EXT1 may act as an oncogene that could promote
Hatem A F M Hassan +2 more
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Structure of the human heparan sulfate polymerase complex EXT1-EXT2 [PDF]
Nature Communications, 2022 Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico +11 more
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Breakpoint characterization of large deletions in
BMC Medical Genetics, 2011 Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly +5 more
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Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family [PDF]
Medicina, 2022 Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones.
Muhammad Ajmal +5 more
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Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models [PDF]
Bone & Joint ResearchAims: This study aimed to explore the genotype and phenotype correlation of patients with multiple osteochondroma (MO), and validate phenotypic differences in ATDC5 cell model with EXT1 or EXT2 gene disruption (EXT1 -/- or EXT2 -/-).
Xiaoyan Guo +6 more
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Retrospective analysis of serum NELL-1 and EXT1/2: no significant predictive value for treatment response in a cohort of membranous nephropathy patients [PDF]
Renal FailureNeural epidermal growth factor-like protein 1 (NELL-1) and the exostosin 1/2 complex (EXT1/2) are recently identified target antigens in membranous nephropathy (MN), yet their prevalence and clinical features in Chinese populations remain poorly ...
Yemei Dai +4 more
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Osteopoikilosis and multiple exostoses caused by novel mutations in
BMC Medical Genetics, 2010 Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Horn Denise +7 more
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Dual roles of exostosin glycosyltransferase 1 in Zika virus infection [PDF]
VirulenceMany factors involved in heparan sulfate (HS) biosynthesis and metabolism have been reported to play roles in viral infection. However, the detailed mechanisms are still not fully understood. In this study, we report that exostosin glycosyltransferase 1 (
Jiaxin Ling +6 more
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First-line PD-1 inhibitor plus chemotherapy improves outcomes in advanced gastric cancer and correlates with specific biomarkers in a real-world cohort [PDF]
Discover OncologyBackground Immune checkpoint inhibitors (ICIs) have become the main treatment method for human epidermal growth factor receptor 2 (HER2)-negative advanced gastric cancer (GC). This study analyzed from real-world data the efficacy of first-line programmed
Xiaoting Ma +7 more
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Hereditary multiple osteochondromas in a child: a case report and discussion of postoperative complication management [PDF]
Frontiers in SurgeryBackgroundThe pathogenesis of hereditary multiple exostoses is mainly related to genetic variants and often requires surgical resection when it causes clinical symptoms.
Haiting Jia, Yuting Wang, Tao Liu
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