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
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
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
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
doaj +2 more sources
Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy
Lupus Science and Medicine, 2023 Objective This study aimed to investigate the clinical significance of exostosin 1 (EXT1) in confirmed and suspected lupus membranous nephropathy (LMN).Methods EXT1 was detected in 67 renal tissues of M-type phospholipase A2 receptor (PLA2R)-negative and
Xiaohong Li +7 more
doaj +1 more source
Kidney Medicine, 2021 Technological advances have allowed the discovery of 6 subtypes of membranous nephropathy based on target antigens: M-type phospholipase A2 receptor (PLA2R), thrombospondin type 1 domain-containing 7A (THSD7A), neural epidermal growth factor-like 1 ...
Takamasa Iwakura +7 more
doaj +1 more source
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses
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 +1 more source
Cancer Medicine, 2021 The exostosin (EXT) protein family is involved in diverse human diseases. However, the expression and prognostic value of EXT genes in human lung squamous cell carcinoma (LUSC) is not well understood.
Disheng Wu +9 more
doaj +1 more source
Endothelial cell-specific reduction of heparan sulfate suppresses glioma growth in mice
Discover Oncology, 2021 Purpose Heparan sulfate (HS) is one of the factors that has been suggested to be associated with angiogenesis and invasion of glioblastoma (GBM), an aggressive and fast-growing brain tumor.
Takamasa Kinoshita +20 more
doaj +1 more source
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
doaj +1 more source