Results 1 to 10 of about 4,066 (131)

EXT2 promotes sarcoma progression and immune evasion via the AKT/c-Myc/PD-L1 axis: a multi-omics and validation study [PDF]

Journal of Translational Medicine
Background Sarcomas are a heterogeneous group of mesenchymal malignancies with diverse histological subtypes, limited treatment options, and generally poor outcomes in advanced disease. EXT2, a glycosyltransferase involved in heparan sulfate biosynthesis,
Haotian Qin, Tiantian Qi, Nan Yao, Weibei Sheng, Jinhao Deng, Junyu Qian, Deli Wang, Hui Zeng, Juan Xu, Jian Weng, Fei Yu, Jun Yang   +11 more
doaj   +2 more sources

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models [PDF]

Bone & Joint Research
Aims: 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, Mingrui Lin, Shan Xu, Boling Liu, Rui Zhang, Shu Liu, Yuancheng Pan   +6 more
doaj   +2 more sources

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Clinical Case Reports (discontinued), 2019
Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2
Aditi Gupta, Deborah L Renaud, Linda Hasadsri   +2 more
exaly   +2 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 Biol
4‐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 Immunology
BackgroundLong-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, Ping Guo, Wenli Li, Wenli Li, Shasha Chen, Xiangyu Yang, Xiangyu Yang, Lisha Ma, Lisha Ma, Changwei Wu, Guisen Li, Guisen Li, Wei Wang, Wei Wang   +13 more
doaj   +2 more sources

Cellular SLC35B4 promotes internalization during influenza A virus entry [PDF]

mBio
SLC35B4, a nucleotide sugar transporter that mediates the transport of UDP-GlcNAc and UDP-xylose, was found to be required for the replication of influenza A virus (IAV) of the H5N1 subtype in our genome-wide siRNA library screen. We found that defective
Guangwen Wang, Li Jiang, Ya Yan, Fandi Kong, Qibing Li, Jie Zhang, Shuangshuang Hou, Bo Wang, Xiurong Wang, Huihui Kong, Guohua Deng, Jianzhong Shi, Guobin Tian, Xianying Zeng, Hualan Chen, Chengjun Li   +15 more
doaj   +2 more sources

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate [PDF]

Genetics and Molecular Biology, 2021
Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones.
Caixia Xian, Mingwei Zhu, Tianying Nong, Yiqiang Li, Xingmei Xie, Xia Li, Jiangui Li, Jingchun Li, Jianping Wu, Weizhe Shi, Ping Wei, Hongwen Xu, Ya-ping Tang   +12 more
doaj   +2 more sources

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

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, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi   +9 more
doaj   +1 more source

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

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, Chiemi Ema, Taichi Sato, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda   +7 more
doaj   +1 more source

Proteomic Analysis of Complement Proteins in Membranous Nephropathy

Kidney 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, Benjamin Madden, M. Cristine Charlesworth, Rishi Sharma, Amit Sethi, Hanna Debiec, Daniel Cattran, Fernando C. Fervenza, Richard J. Smith, Pierre Ronco, Sanjeev Sethi   +10 more
doaj   +1 more source