Results 31 to 40 of about 4,149 (184)

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions [PDF]

JNCI Journal of the National Cancer Institute, 2007
Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all osteochondromas present as solitary (nonhereditary) lesions in which somatic mutations in EXT1 are extremely ...
Liesbeth Hameetman, Károly Szuhai, Arzu Yavaş, Jeroen Knijnenburg, Mark van Duin, Herman van Dekken, A. H. M. Taminiau, A.M. Cleton-Jansen, Judith V.M.G. Bovée, Pancras C.W. Hogendoorn   +9 more
openalex   +4 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

Left ventricular systolic function and initial exercise capacity—their importance for results of cardiac rehabilitation after acute coronary syndrome [PDF]

Exploration of Cardiology, 2023
Aim: The aim of this study was to compare initial and final exercise tolerance and to evaluate the determinants of exercise capacity improvement—after three weeks of inpatient cardiac rehabilitation. Methods: A cohort of 494 patients after acute coronary
Barbara Uznańska-Loch, Ewa Wądołowska, Karina Wierzbowska-Drabik, Urszula Cieślik-Guerra, Jarosław D. Kasprzak, Małgorzata Kurpesa, Tomasz Rechciński   +6 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, 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

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

The 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). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may ...
WUYTS W, VAN HUL W, DE BOULLE K, HANDRICKX J, BAKKER E, VANHOENACKER F, MOLLICA F, LUDECKE HJ, SAYLI BS, PAZZAGLIA, Ugo, MORTIER G, HAMEL B, CONRAD EU, MATSUSHITA M, RASHIND WH, WILLEMS PJ   +15 more
openaire   +5 more sources

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundWe describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.MethodsThe patient underwent extensive genetic testing and analysis in an attempt to diagnose the cause of his condition.
Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. van der Werf, Wim Wuyts, Dusica Babovic‐Vuksanovic, Eric W. Klee   +12 more
openaire   +3 more sources

Proteomic Analysis of Complement Proteins in Membranous Nephropathy

Kidney International Reports, 2020
Introduction: Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in Caucasian adults. Phospholipase A2 receptor (PLA2R)– and exostosin 1 (EXT1)/exostosin 2 (EXT2)–associated MN represent the most common primary and secondary forms
Aishwarya Ravindran, Benjamin Madden, M. Cristine Charlesworth, Rishi Sharma, Amit Sethi, Hanna Debiec, Daniel Cattran, Fernando C. Fervenza, Richard J. Smith, Pierre Ronco, Sanjeev Sethi   +10 more
doaj   +1 more source

Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation [PDF]

Journal of Biological Chemistry, 2007
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis,
Marta, Busse, Almir, Feta, Jenny, Presto, Maria, Wilén, Mona, Grønning, Lena, Kjellén, Marion, Kusche-Gullberg   +6 more
openaire   +2 more sources

Epithelial heparan sulfate regulates Sonic Hedgehog signaling in lung development. [PDF]

PLoS Genetics, 2017
The tree-like structure of the mammalian lung is generated from branching morphogenesis, a reiterative process that is precisely regulated by numerous factors.
Hua He, Meina Huang, Shenfei Sun, Yihui Wu, Xinhua Lin   +4 more
doaj   +1 more source

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Orthopaedic Surgery, 2020
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang   +4 more
doaj   +1 more source