Results 21 to 30 of about 4,059 (184)
Disruption of Gastrulation and Heparan Sulfate Biosynthesis in EXT1-Deficient Mice
Developmental Biology, 2000 Mutations in the EXT1 gene are responsible for human hereditary multiple exostosis type 1. The Drosophila EXT1 homologue, tout-velu, regulates Hedgehog diffusion and signaling, which play an important role in tissue patterning during both invertebrate and vertebrate development.
Xin Lin +6 more
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EXT1 (exostoses (multiple) 1) [PDF]
Atlas 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.
Judith V.M.G. Bovée
openalex +3 more sources
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 +8 more
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Free glutaraldehyde gelatin microsphere loaded mesenchymal stem cells alleviate osteoarthritis by promoting <i>Ext1</i> expression. [PDF]
TheranosticsYuan Y +12 more
europepmc +2 more sources
Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations [PDF]
Journal of Bone and Mineral Research, 2000 Abstract The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2, have been identified and are expressed ubiquitously.
M. Bernard +10 more
openalex +4 more sources
Kidney Medicine, 2021 Technological advances have allowed the discovery of 6 subtypes of membranous nephropathy based on target antigens: M-type phospholipase A2 receptor (PLA2R), thrombospondin type 1 domain-containing 7A (THSD7A), neural epidermal growth factor-like 1 ...
Takamasa Iwakura +7 more
doaj +1 more source
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 +30 more
wiley +1 more source
Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
BioMedicine, 2014 Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2.Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2 ...
Wei-De Lin +3 more
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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 +12 more
openaire +4 more sources
A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses
Human Mutation, 2001 Yiru Shi +4 more
openalex +4 more sources