Results 31 to 40 of about 12,622 (181)
Frontiers in Genetics, 2020 Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang +13 more
doaj +1 more source
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Molecular Cytogenetics, 2023 Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Angelos Alexandrou +10 more
doaj +1 more source
Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Unexpected Specificities
Angewandte Chemie, Volume 138, Issue 3, 16 January 2026.Non‐canonical glycopeptides of the proteoglycan linkage region are accessible by the enzymes B3GalT6 and GlcAT‐1 confirming a recently discovered rescue mode in glycosaminoglycan (GAG) biosynthesis. The crystal structure of B3GalT6 revealed a covalent dimer linked by a disulfide. Abstract We selected the N,O‐glycosylated proteoglycan bikunin as a model
Sascha Weidler +16 more
wiley +2 more sources
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]
Scientific Reports, 2014 Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition.
Delgado, M. A. +10 more
openaire +6 more sources
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 +5 more
doaj +1 more source
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 +3 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 +9 more
doaj +1 more source
Detecting Hidden Data in Ext2/Ext3 File Systems [PDF]
, 2006 The use of digital forensic tools by law enforcement agencies has made it difficult for malicious individuals to hide potentially incriminating evidence. To combat this situation, the hacker community has developed anti-forensic tools that remove or hide electronic evidence for the specific purpose of undermining forensic investigations.
S. Piper, M. Davis, G. Manes, S. Shenoi
openaire +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
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 +2 more
doaj +1 more source