Results 1 to 10 of about 3,833 (199)

Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice

Developmental Biology, 2000
Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate ...
Jeffrey D Esko, Dan E Wells, Martin M Matzuk   +2 more
exaly   +4 more sources

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses [PDF]

American Journal of Human Genetics, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses).
Wim Wuyts, K De Boulle, Jan Hendrickx
exaly   +7 more sources

EXT1 as an Independent Prognostic Biomarker in Breast Cancer: Its Correlation with Immune Infiltration and Clinicopathological Parameters [PDF]

Immuno
Exostosin 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, Sherif Ashraf Fahmy, Mahmoud M Kamel   +2 more
exaly   +4 more sources

Detection of Exostosin 1 in Lupus Nephritis: Prevalence, Clinico–Pathologic and Renal Outcome Correlations [PDF]

Diagnostics
Background/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, Denise Maria Avancini Costa Malheiros, Dirce Maria Zanetta, Luis Yu   +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 Research
Aims: 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, Mingrui Lin, Shan Xu, Boling Liu, Rui Zhang, Shu Liu, Yuancheng Pan   +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 Failure
Neural 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, Rongrong Feng, Xiaowen Duan, Xiaole Su, Lihua Wang   +4 more
doaj   +2 more sources

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA. [PDF]

Hum Mutat
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 ...
Shu D, Liu Y, Wang X, Liang T, Wu Z.
europepmc   +2 more sources

Heparan Sulfate Biosynthesis Enzyme, Ext1, Contributes to Outflow Tract Development of Mouse Heart via Modulation of FGF Signaling.

PLoS ONE, 2015
Glycosaminoglycans are important regulators of multiple signaling pathways. As a major constituent of the heart extracellular matrix, glycosaminoglycans are implicated in cardiac morphogenesis through interactions with different signaling morphogens ...
Rui Zhang, Peijuan Cao, Zhongzhou Yang, Zhenzhen Wang, Jiu-Lin Wu, Yan Chen, Yi Pan   +6 more
doaj   +2 more sources

Dual roles of exostosin glycosyltransferase 1 in Zika virus infection [PDF]

Virulence
Many 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, Asifa Khan, Matthias Denkewitz, Marco Maccarana, Åke Lundkvist, Jin-Ping Li, Jinlin Li   +6 more
doaj   +2 more sources

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

International Dental Journal
Summary: Objectives: The exostosins (EXT), which are responsible for heparan sulfate backbone synthesis and play a vital role in tissue homeostasis, have been reported to be correlated with prognosis of various cancers.
Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong   +6 more
doaj   +2 more sources