Results 11 to 20 of about 3,145 (159)

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

Nature Communications, 2022
Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild   +11 more
doaj   +5 more sources

Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses

Journal of the Formosan Medical Association, 2006
Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +3 more sources

Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans[S] [PDF]

Journal of Lipid Research, 2015
Elevated nonfasting TG-rich lipoprotein levels are a risk factor for CVD. To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice
Hans L. Mooij, Sophie J. Bernelot Moens, PhilipL.S.M. Gordts, KristinI. Stanford, ErinM. Foley, MarjoleinA.W. van den Boogert, JuliaJ. Witjes, H.Carlijne Hassing, MichaelW. Tanck, MichielA.J. van de Sande, J.Han Levels, JohnJ.P. Kastelein, ErikS.G. Stroes, GeesjeM. Dallinga-Thie, JeffD. Esko, Max Nieuwdorp   +15 more
doaj   +9 more sources

Fibroblast EXT1-levels influence tumor cell proliferation and migration in composite spheroids.

PLoS ONE, 2012
BackgroundStromal fibroblasts are important determinants of tumor cell behavior. They act to condition the tumor microenvironment, influence tumor growth, support tumor angiogenesis and affect tumor metastasis. Heparan sulfate proteoglycans, present both
Cecilia Österholm, Ning Lu, Åsa Lidén, Tine V Karlsen, Donald Gullberg, Rolf K Reed, Marion Kusche-Gullberg   +6 more
doaj   +6 more sources

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Molecular Genetics & Genomic Medicine, 2022
Background Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage‐covered tumors on the external surfaces of bones (osteochondromas).
Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen   +6 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

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   +1 more source

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas. [PDF]

PLoS ONE, 2013
Multiple osteochondromas (MO) is an inherited skeletal disorder, and the molecular mechanism of MO remains elusive. Exome sequencing has high chromosomal coverage and accuracy, and has recently been successfully used to identify pathogenic gene mutations.
Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang, Jun Wang   +12 more
doaj   +1 more source