Results 11 to 20 of about 3,263 (170)
Frontiers in GeneticsMultiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,
Artem Borovikov +2 more
exaly +3 more sources
Ext1 heterozygosity causes a modest effect on postprandial lipid clearance in humans[S] [PDF]
Journal of Lipid Research, 2015 Elevated nonfasting TG-rich lipoprotein levels are a risk factor for CVD. To further evaluate the relevance of LDL-receptor (LDLr) pathway and heparan sulfate proteoglycans (HSPGs) in TG homeostasis, we analyzed fasting and postprandial TG levels in mice
Hans L. Mooij +15 more
doaj +9 more sources
Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy
Lupus 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
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
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
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 +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]
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 +3 more sources
The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions [PDF]
JNCI 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
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 +20 more
doaj +1 more source
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 +5 more
doaj +1 more source