Detection of Exostosin 1 in Lupus Nephritis: Prevalence, Clinico–Pathologic and Renal Outcome Correlations [PDF]
DiagnosticsBackground/Objectives: Lupus nephritis (LN) is one of the most severe complications of systemic lupus erythematosus (SLE); it is associated with increased morbidity and mortality, underscoring the need for new diagnostic markers and therapeutic ...
Luiza Liza de Assis +3 more
doaj +2 more sources
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
doaj +2 more sources
Optimization of a Target Antigen Diagnostic Pathway for Membranous Nephropathy [PDF]
Kidney International ReportsIntroduction: The recent Mayo Clinic consensus proposed a target antigen-based diagnostic pathway for membranous nephropathy (MN), recommending testing for neural epidermal growth factor-like 1 (NELL1) following a negative phospholipase A2 receptor ...
Wangyang Li +15 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2022 Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas).
Yongan Zhou, Yaxin Han, Jianwei Li
exaly +2 more sources
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
doaj +2 more sources
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Zayed Al-Zayed +9 more
doaj +3 more sources
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
doaj +2 more sources
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
Ibrahim Sa +2 more
exaly +3 more sources
Structure of the human heparan sulfate polymerase complex EXT1-EXT2
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
doaj +5 more sources
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
doaj +2 more sources