Results 31 to 40 of about 3,991 (155)

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, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani   +10 more
doaj   +1 more source

EXT2 (exostoses (multiple) 2) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on EXT2 (exostoses (multiple) 2), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

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, Ole Bundgaard, Markus Hessefort, Marisa Rädisch, Christopher Günther Franz Graf, Kevin Lam, Vanessa J. Neubauer, Johanna Eisenreich, Leonhard Köhler, Kelley W. Moremen, Catharina Steentoft, Henrik Clausen, Teng‐Yi Huang, Shang‐Cheng Hung, Clemens Steegborn, Michael Weyand, Carlo Unverzagt   +16 more
wiley   +2 more sources

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

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

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

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., Martinez-Domenech, G., Sarrión Pérez-Caballero, Patricia, Urreizti, Roser, Zecchini, L., Robledo, H. H., Segura, F., Dodelson de Kremer, Raquel, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla   +10 more
openaire   +6 more sources

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

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

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