Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models [PDF]
Bone & Joint ResearchAims: This study aimed to explore the genotype and phenotype correlation of patients with multiple osteochondroma (MO), and validate phenotypic differences in ATDC5 cell model with EXT1 or EXT2 gene disruption (EXT1 -/- or EXT2 -/-).
Xiaoyan Guo +6 more
doaj +2 more sources
Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses [PDF]
Orphanet Journal of Rare Diseases, 2021 Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Zayed Al-Zayed +9 more
doaj +3 more sources
Structure of the human heparan sulfate polymerase complex EXT1-EXT2
Nature Communications, 2022 Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico +11 more
doaj +5 more sources
Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. [PDF]
PLoS Genetics, 2008 Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we show
Aurélie Clément +6 more
doaj +5 more sources
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
PLoS ONE, 2014 BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian +8 more
doaj +4 more sources
4-HIAA Blocks Methamphetamine-Induced Conditioned Place Preference in Mice Through Modulation of the 5-HT Pathway in the Nucleus Accumbens. [PDF]
Addict Biol4‐HIAA crosses the blood–brain barrier. Treatment (1‐mg/kg) inhibited CPP acquisition, promoted extinction and prevented relapse. These behavioural effects were associated with changes in nucleus accumbens 5‐HT expression. ABSTRACT 4‐hydroxyindole‐3‐acetic acid (4‐HIAA) is a metabolite of psilocin.
Wu Y, Ran J, Mo J, Wang J.
europepmc +2 more sources
Long-term outcomes in primary membranous nephropathy: a Chinese cohort study with novel target antigen [PDF]
Frontiers in ImmunologyBackgroundLong-term antigen-specific data in PMN among Chinese populations remain limited. This study evaluated six target antigens and their clinical significance during extended follow-up.MethodsWe retrospectively analyzed 132 treatment-naïve PMN ...
Ping Guo +13 more
doaj +2 more sources
Three Novel EXT1 and EXT2 Gene Mutations in Taiwanese Patients with Multiple Exostoses
Journal of the Formosan Medical Association, 2006 Multiple osteochondromatosis, also known as hereditary multiple exostoses (HME), is an inherited autoso-mal dominant disorder characterized by the presence of multiple exostoses on the long bones.
Wen-Chau Chen +3 more
doaj +3 more sources
Glomerular Exostosin-Positivity is Associated With Disease Activity and Outcomes in Patients With Membranous Lupus Nephritis [PDF]
Kidney International ReportsIntroduction: The relationship of exostosin 1 and exostosin 2 (EXT1/EXT2) expression and outcomes in membranous lupus nephritis (MLN) was controversial.
Xi Xia +9 more
doaj +2 more sources
Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates [PDF]
International Dental JournalSummary: Objectives: The exostosins (EXT), which are responsible for heparan sulfate backbone synthesis and play a vital role in tissue homeostasis, have been reported to be correlated with prognosis of various cancers.
Yiping Wang +6 more
doaj +2 more sources