Results 21 to 30 of about 16,338 (222)

Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy

open access: yesLupus Science and Medicine, 2023
Objective This study aimed to investigate the clinical significance of exostosin 1 (EXT1) in confirmed and suspected lupus membranous nephropathy (LMN).Methods EXT1 was detected in 67 renal tissues of M-type phospholipase A2 receptor (PLA2R)-negative and
Xiaohong Li   +7 more
doaj   +1 more source

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

open access: yesHepatology, 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

Primary Membranous Nephropathy With Enhanced Staining of Exostosin 1/Exostosin 2 in the Glomeruli: A Report of 2 Cases

open access: yesKidney 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

Exostosin1 as a novel prognostic and predictive biomarker for squamous cell lung carcinoma: A study based on bioinformatics analysis

open access: yesCancer 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   +9 more
doaj   +1 more source

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas [PDF]

open access: yesMolecular 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   +3 more sources

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions [PDF]

open access: yesJNCI Journal of the National Cancer Institute, 2007
Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all osteochondromas present as solitary (nonhereditary) lesions in which somatic mutations in EXT1 are extremely ...
Hameetman, L   +9 more
openaire   +2 more sources

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

open access: yesDiscover 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   +20 more
doaj   +1 more source

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

open access: yesMolecular 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   +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]

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

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

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