Results 11 to 20 of about 3,991 (155)

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

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas [PDF]

Frontiers in Genetics
Multiple 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, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov   +18 more
doaj   +2 more sources

Surgical Approach and Considerations for Compressive Thoracic Intraspinal Osteochondroma in Familial Hereditary Multiple Exostosis [PDF]

Diseases
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood.
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea   +5 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

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

Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan

Scientific Reports, 2022
Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults. We previously reported that the prevalence of phospholipase A2 receptor (PLA2R)- and thrombospondin type 1 domain containing 7A (THSD7A)-associated MN patients in Japan is ...
Takamasa Iwakura, Chiemi Ema, Shinsuke Isobe, Tomoyuki Fujikura, Naro Ohashi, Akihiko Kato, Hideo Yasuda   +6 more
doaj   +1 more source

Mice deficient in Ext2 lack heparan sulfate and develop exostoses [PDF]

Development, 2005
Hereditary multiple exostoses (HME) is a genetically heterogeneous human disease characterized by the development of bony outgrowths near the ends of long bones. HME results from mutations in EXT1 and EXT2,genes that encode glycosyltransferases that synthesize heparan sulfate chains. To study the relationship of the disease to mutations in these genes,
Dominique, Stickens, Beverly M, Zak, Nathalie, Rougier, Jeffrey D, Esko, Zena, Werb   +4 more
openaire   +2 more sources

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses [PDF]

The American Journal of Human Genetics, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may ...
WUYTS W, VAN HUL W, DE BOULLE K, HANDRICKX J, BAKKER E, VANHOENACKER F, MOLLICA F, LUDECKE HJ, SAYLI BS, PAZZAGLIA, Ugo, MORTIER G, HAMEL B, CONRAD EU, MATSUSHITA M, RASHIND WH, WILLEMS PJ   +15 more
openaire   +5 more sources

HSPG-deficient zebrafish uncovers dental aspect of multiple osteochondromas.

PLoS ONE, 2012
Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
Malgorzata I Wiweger, Zhe Zhao, Richard J P van Merkesteyn, Henry H Roehl, Pancras C W Hogendoorn   +4 more
doaj   +1 more source