Results 31 to 40 of about 4,059 (184)

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

Endothelial cell-specific reduction of heparan sulfate suppresses glioma growth in mice

Discover Oncology, 2021
Purpose Heparan sulfate (HS) is one of the factors that has been suggested to be associated with angiogenesis and invasion of glioblastoma (GBM), an aggressive and fast-growing brain tumor.
Takamasa Kinoshita, Hiroyuki Tomita, Hideshi Okada, Ayumi Niwa, Fuminori Hyodo, Tomohiro Kanayama, Mikiko Matsuo, Yuko Imaizumi, Takahiro Kuroda, Yuichiro Hatano, Masafumi Miyai, Yusuke Egashira, Yukiko Enomoto, Noriyuki Nakayama, Shigeyuki Sugie, Kazu Matsumoto, Yu Yamaguchi, Masayuki Matsuo, Hideaki Hara, Toru Iwama, Akira Hara   +20 more
doaj   +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

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

Scientific Reports, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of ...
Susana Balcells, A. Sangorrin, Daniel Grinberg, Loreto Martorell, M. A. Vilaseca, Pablo Lapunzina, Rafael Artuch, Patricia Sarrion, Judith Armstrong, Roser Urreizti, Jordi Anton, Ferran Torner, C. G. Asteggiano, C. G. Asteggiano, C. G. Asteggiano, Julián Nevado, A. Delgado   +16 more
openaire   +10 more sources

EXT1 wt Allele [PDF]

, 2020

openalex   +2 more sources

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

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.
G. Martinez-Domenech, Patricia Sarrion, H. H. Robledo, Susana Balcells, F. Segura, Roser Urreizti, María Andrea Delgado, Daniel Grinberg, L. Zecchini, C. G. Asteggiano, C. G. Asteggiano, C. G. Asteggiano, R. Dodelson de Kremer   +12 more
openaire   +6 more sources

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

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