Results 21 to 30 of about 3,263 (170)

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

open access: yesJournal 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   +8 more
openaire   +2 more sources

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

open access: yesMolecular 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   +10 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]

open access: yesExploration 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   +6 more
doaj   +1 more source

EXT1 (exostoses (multiple) 1) [PDF]

open access: yesAtlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is implicated.
openaire   +2 more sources

Heparan Sulfate Biosynthesis Enzyme, Ext1, Contributes to Outflow Tract Development of Mouse Heart via Modulation of FGF Signaling.

open access: yesPLoS 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   +6 more
doaj   +1 more source

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

open access: yesScientific 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 ...
P. Sarrión   +14 more
openaire   +6 more sources

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

open access: yesPLoS 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   +12 more
doaj   +1 more source

Proteomic Analysis of Complement Proteins in Membranous Nephropathy

open access: yesKidney 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   +10 more
doaj   +1 more source

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

open access: yesJournal 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   +6 more
openaire   +2 more sources

Genomic Organization and Promoter Structure of the Human EXT1 Gene

open access: yesGenomics, 1997
Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of
H J, Lüdecke   +7 more
openaire   +2 more sources

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