Ask about this productRelated genes to: EXT1 antibody
- Gene:
- EXT1 NIH gene
- Name:
- exostosin glycosyltransferase 1
- Previous symbol:
- LGCR, LGS
- Synonyms:
- ttv
- Chromosome:
- 8q24.11
- Locus Type:
- gene with protein product
- Date approved:
- 1993-05-04
- Date modifiied:
- 2019-04-23
Related products to: EXT1 antibody
Related articles to: EXT1 antibody
- Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is classically characterized by pauci-immune necrotizing crescentic glomerulonephritis; however, immune complex deposition is increasingly recognized in a subset of patients, and its clinical significance remains incompletely defined. Coexistence with membranous nephropathy (MN)-like features is uncommon and may complicate diagnosis and treatment. We report a 37-year-old woman with persistent urinary abnormalities detected during routine health screening. Laboratory evaluation showed proteinuria (1.83 g/gCr), microscopic hematuria (> 50 red blood cells/high-power field), mildly impaired kidney function [estimated glomerular filtration rate (eGFR) 51.4 mL/min/1.73 m], elevated myeloperoxidase (MPO)-ANCA levels, and no hypocomplementemia. Kidney biopsy revealed crescentic glomerulonephritis with granular IgG, C3, and C1q deposition in mesangial and capillary wall regions, together with subepithelial electron-dense deposits suggestive of MN-like features. IgG subclass staining was positive for IgG1-3 but negative for IgG4. Glomerular staining for PLA2R, THSD7A, and NELL1 was negative, whereas glomerular EXT1 staining was positive and EXT2 staining was negative. Overall, the clinicopathological profile was not typical of primary MN. Further evaluation demonstrated anti-SSA antibody positivity and objective ocular findings consistent with Sjögren's syndrome (SjS). Following treatment with high-dose corticosteroids, rituximab, and avacopan, kidney function and urinary abnormalities gradually improved, although proteinuria declined relatively slowly. This case was characterized by MPO-ANCA-associated crescentic glomerulonephritis with immune complex deposition and membranous features in the setting of SjS. The findings highlight the diagnostic difficulty of attributing the membranous component to a single disease process and suggest the involvement of complex and overlapping autoimmune mechanisms. - Source: PubMed
Publication date: 2026/08/26
Yamada KoshiFukunaga RyoKoshida TakeoTakagi MiyukiSaeki HarumiMaiguma MasayukiKobayashi TakashiKihara MasaoGohda TomohitoSuzuki Yusuke - - Source: PubMed
Chen Chih-Ping - Heparan sulfate (HS) proteoglycans are essential regulators of cell signaling, development, and extracellular matrix organization. Central to the HS biosynthesis pathway is the exostosin family of enzymes that control commitment to HS assembly and catalyze formation of the polymer backbone in the Golgi apparatus. Recent structural studies have substantially revised our understanding by demonstrating that the HS co-polymerase is a tightly organized EXT1-EXT2 heterodimer, wherein the GT-B domain of EXT1 and the GT-A domain of EXT2 provide the β1,4-GlcA and α1,4-GlcNAc transferase activities, respectively. Parallel work on EXTL3 clarified how selective recognition of the linker-region glycopeptide commits to HS extension, outcompeting the default chondroitin sulfate pathway. In contrast, EXTL2 is best viewed as a regulatory GlcNAc transferase that can cap or divert linker intermediates rather than as a polymerase, whereas EXTL1 remains the least defined family member despite evidence for GlcNAc transferase activity. Genetic studies continue to reveal their importance in human disease, including hereditary multiple exostoses and EXTL3-associated immunodeficiency. Despite this progress, major questions remain regarding chain length control, enzyme coordination, and therapeutic targeting. This short review integrates recent structural, biochemical, and genetic advances to provide an updated narrative of how mammalian EXT proteins govern HS biosynthesis. - Source: PubMed
Publication date: 2026/08/25
Chapla DigantkumarMoremen Kelley W - Cancer involves abnormal cell proliferation and migration throughout the body. Genetic changes occurring in hereditary breast cancer led to the activation of oncogenes, resulting in gain-of-function effects. This study was designed to conduct a phylogenetic analysis of breast cancer-related oncogenes and tumor suppressor genes families in humans relevant to different species and their potential against breast cancer. - Source: PubMed
Publication date: 2026/08/14
Nazir AmnaAmbreen SadafNawaz Yasir - - Source: PubMed
Publication date: 2026/08/18
Zhang HongrongTang ZhencunShen ShiyingFeng LeiQin YunfaHuang LiangchongChen YanyanLiu YuWang Weihong