Results 31 to 40 of about 3,833 (199)

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

Localization of mEmerald-EXT1 in ER tubules and sheets

, 2021
Cos7 cells transfected with mEmerald-EXT1 were analyzed by Structured Illumination Microscopy (SIM) super-resolution. _SIR_PRJ.tif 3D reconstruction shows the localisation of mEmerald-EXT1 in ER tubules, while "_025.tif" shows the localization in ER ...
Twizere, J (via Mendeley Data)
core   +2 more sources

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

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

Role of EXT1 and Glycosaminoglycans in the Early Stage of Filovirus Entry [PDF]

Journal of Virology, 2015
ABSTRACT Filoviruses, including both Ebola virus (EBOV) and Marburg virus (MARV), can infect humans and other animals, causing hemorrhagic fever with a high mortality rate. Entry of these viruses into the host is mediated by a single filoviral glycoprotein (GP).
Aileen, O'Hearn, Minxiu, Wang, Han, Cheng, Calli M, Lear-Rooney, Katie, Koning, Emily, Rumschlag-Booms, Elizabeth, Varhegyi, Gene, Olinger, Lijun, Rong   +8 more
openaire   +2 more sources

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

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study [PDF]

, 2004
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses.
Monaco, AP, Porter, JR, Simpson, AHRW, Lonie, L, Porter, D E, Simpson, Hamish, Porter, DE, Porter, J R, Monaco, Anthony, Simpson, AH, Monaco, A P, Fraser, M, Dobson-Stone, C   +12 more
core   +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

EXT1 (exostoses (multiple) 1) [PDF]

, 2000
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is ...
Bovée, JVMG
core   +1 more source