Results 31 to 40 of about 4,149 (173)

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

BMC Medical Genetics, 2011
Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly, Hogendoorn Pancras CW, Mees Kirsten, de Jong Danielle, Jennes Ivy, Wuyts Wim   +5 more
doaj   +1 more source

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   +1 more source

Polymorphisms within novel risk loci for type 2 diabetes determine beta-cell function. [PDF]

PLoS ONE, 2007
BACKGROUND: Type 2 diabetes arises when insulin resistance-induced compensatory insulin secretion exhausts. Insulin resistance and/or beta-cell dysfunction result from the interaction of environmental factors (high-caloric diet and reduced physical ...
Harald Staiger, Fausto Machicao, Norbert Stefan, Otto Tschritter, Claus Thamer, Konstantinos Kantartzis, Silke A Schäfer, Kerstin Kirchhoff, Andreas Fritsche, Hans-Ulrich Häring   +9 more
doaj   +1 more source

Presence of chondroitin sulphate and requirement for heparan sulphate biosynthesis in the developing zebrafish inner ear

Frontiers in Cell and Developmental Biology, 2022
Epithelial morphogenesis to form the semicircular canal ducts of the zebrafish inner ear depends on the production of the large glycosaminoglycan hyaluronan, which is thought to contribute to the driving force that pushes projections of epithelium into ...
Ana A. Jones, Elvira Diamantopoulou, Sarah Baxendale, Tanya T. Whitfield   +3 more
doaj   +1 more source

Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.

PLoS ONE, 2019
Glycosaminoglycans in the skin interstitium and endothelial surface layer have been shown to be involved in local sodium accumulation without commensurate water retention. Dysfunction of heparan sulfate glycosaminoglycans may therefore disrupt sodium and
Rik H G Olde Engberink, Judith de Vos, Angela van Weert, Yahua Zhang, Naomi van Vlies, Bert-Jan H van den Born, Jens M Titze, Ed van Bavel, Liffert Vogt   +8 more
doaj   +1 more source

Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis

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, Chao Huo, Siyu Jiang, Yanxia Huang, Xuehong Fang, Jun Liu, Min Yang, Jianwei Ren, Bilian Xu, Yi Liu   +9 more
doaj   +1 more source

Glomerular Exostosin-Positivity is Associated With Disease Activity and Outcomes in Patients With Membranous Lupus Nephritis

Kidney International Reports
Introduction: The relationship of exostosin 1 and exostosin 2 (EXT1/EXT2) expression and outcomes in membranous lupus nephritis (MLN) was controversial.
Xi Xia, Suchun Li, Zhipeng Wang, Siyang Ye, Yuting Fan, Wenxing Peng, Wenfang Chen, Fengxian Huang, Ruihan Tang, Wei Chen   +9 more
doaj   +1 more source

Gene-Function-Based Clusters Explore Intricate Networks of Gene Expression of Circulating Tumor Cells in Patients with Colorectal Cancer

Biomedicines, 2023
Colorectal cancer (CRC) is a complex disease characterized by dynamically deregulated gene expression and crosstalk between signaling pathways. In this study, a new approach based on gene-function-based clusters was introduced to explore the CRC ...
Chi-Shuan Huang, Harn-Jing Terng, Yi-Ting Hwang   +2 more
doaj   +1 more source

Mice deficient in Ext2 lack heparan sulfate and develop exostoses [PDF]

Development, 2005
Hereditary multiple exostoses (HME) is a genetically heterogeneous human disease characterized by the development of bony outgrowths near the ends of long bones. HME results from mutations in EXT1 and EXT2,genes that encode glycosyltransferases that synthesize heparan sulfate chains. To study the relationship of the disease to mutations in these genes,
Dominique, Stickens, Beverly M, Zak, Nathalie, Rougier, Jeffrey D, Esko, Zena, Werb   +4 more
openaire   +2 more sources

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

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, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah   +5 more
doaj   +1 more source