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
- Multiple osteochondromas (MO) is a rare bone disease with variable manifestations that make it difficult to distinguish from phenotypically similar diseases, both morphologically and radiologically. As a monogenic disorder associated with mutations in EXT1 or EXT2, ancient DNA analysis can provide genetically confirmed diagnoses and insights into the pathogenesis of suspected cases. To further investigate a previously reported suspected MO case from Qing-period Shandong, China, we generated ancient whole-exome sequencing data from the individual's petrous bone, yielding a mean sequencing coverage of 27.172×. We identified a pathogenic heterozygous mutation in the ligand-binding site Rossmann-2 subdomain of EXT1 (c.791T > C; p.Leu264Pro) with a sequencing depth of 17×, a mutation also found in an unrelated modern Latin American patient. Additionally, by predicting and analyzing the 3D structure of the EXT1 protein, we detected structural and functional damage. Our findings expand the known spectrum of EXT1 mutations and enhance the comprehensive genotype-phenotype map of rare MO, providing insights into its genetic pathology from a historical perspective. Furthermore, this research expands the understanding of disease landscapes in Northern China, both paleopathologically and paleogenetically. - Source: PubMed
Publication date: 2026/07/25
Wang BangyanChen HaodongXi FanhaoBao HaoquanWen HetongDu PanxinSun ChenshuangXiong JianxueZhang BaoshuaiChang XinZhou YaweiWang Chuan-ChaoWen Shaoqing - Hereditary multiple osteochondromas is an autosomal dominant disease associated with mutations of the exostosin gene family. Phenotypically, it is manifested as a skeletal dysplasia. The growth of multiple osteochondromas, cartilaginous bone nodules in the diaphysis area, can change into benign cartilaginous bone tumors which overgrow outside the metaphysis of the long bones. The aim of this study was to (1) verify the role of structural aberrations in the and genes, and (2) confront the findings with structural variants found in the general population. This study can thus contribute to understanding the etiology of HMO. - Source: PubMed
Publication date: 2025/11/11
Solc RomanVaraliova ZuzanaKlugerova MichaelaKuklik Miloslav - 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 A receptor (PLA2R) result. This study aimed to optimize this pathway in a real-world Chinese cohort enriched for diagnostic complexity. - Source: PubMed
Publication date: 2026/05/06
Li WangyangHuang ChengYue ShulingRao QingqingQin XunHu HaofeiWang LinCen JiXu RicongSong HaiyingXu YiZhang XiuliWang XiangyangDong XuCheng YuanWan Qijun - : 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 strategies. In this context, the exostosin 1 (EXT1)/exostosin 2 (EXT2) heterodimer has emerged as a novel antigen in membranous nephropathy associated with SLE. This study evaluated EXT1 prevalence in renal biopsies from patients with lupus membranous nephropathy (LMN) and compared clinical, laboratory, and histopathological characteristics on diagnosis and renal outcomes. : This retrospective study included 97 LMN patients whose renal biopsy underwent immunohistochemistry (IHC) for EXT1. EXT1-positive and EXT1-negative groups were compared using descriptive analyses and repeated measures models. : EXT1 positivity was observed in 35% of the cohort, and is more frequent in pure LMN (40%) than in cases with a proliferative component (32%). Regarding SLE diagnostic criteria, EXT1-positive patients showed a higher frequency of antiphospholipid antibodies, although data were available for only a subset of patients. This group also exhibited lower serum creatinine levels, but without statistical significance. EXT1-negative patients more frequently received cyclophosphamide as induction therapy (57.6% vs. 34.5%; = 0.041). No differences in clinical outcomes were observed during follow-up. : EXT1 prevalence was consistent with the literature, reinforcing the epidemiological reproducibility of this marker. EXT1-positive and EXT1-negative groups did not differ regarding clinical presentation, disease progression, and renal outcomes, heightening the need for prospective studies to further elucidate the diagnostic and prognostic role of EXT1 in LMN. - Source: PubMed
Publication date: 2026/05/23
Assis Luiza Liza deMalheiros Denise Maria Avancini CostaZanetta Dirce MariaYu Luis - Preimplantation genetic testing (PGT) represents a crucial strategy in the prevention of monogenic disorders, ensuring that only embryos free from these genetic conditions are implanted during assisted reproductive technologies. By analyzing the type of haplotypes of the variation of the probands or the carriers, we can significantly enhance the diagnostic precision of PGT. We presented a clinical strategy that uses embryos as probands to construct haplotypes; this innovative approach has successfully delineated the haplotypes associated with pathogenic variations in key genes, such as HBA (encoding hemoglobin subunit alpha), EXT1 (involved in exostoses), and CUL3 (a gene related to various developmental disorders). Ten embryos in three families were tested, all are diagnosed whether with the deletion variations or not by haplotype construction, Sanger sequencing, or PCR. Importantly, we compared SNP results with haplotype analysis by pedigree linkage or long reading sequence. This method can be considered when family members are incomplete and haplotype construction is otherwise unfeasible other than long reading sequencing. - Source: PubMed
Publication date: 2026/03/31
Shu DefengLiu YiWang XiaoliLiang TaoWu Zubo