Results 11 to 20 of about 4,059 (184)

Structure of the human heparan sulfate polymerase complex EXT1-EXT2 [PDF]

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, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild   +11 more
doaj   +6 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, Chih-Hsien Chi, Chia-Chang Chuang, l-Ming Jou   +3 more
doaj   +5 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, 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   +4 more sources

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families [PDF]

BMC Medical Genetics, 2011
Background Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called multiple osteochondromas (MO), an ...
Szuhai Karoly, Hogendoorn Pancras CW, Mees Kirsten, de Jong Danielle, Jennes Ivy, Wuyts Wim   +5 more
doaj   +2 more sources

Glomerular Exostosin-Positivity is Associated With Disease Activity and Outcomes in Patients With Membranous Lupus Nephritis [PDF]

Kidney International Reports
Introduction: The relationship of exostosin 1 and exostosin 2 (EXT1/EXT2) expression and outcomes in membranous lupus nephritis (MLN) was controversial.
Xi Xia, Suchun Li, Zhipeng Wang, Siyang Ye, Yuting Fan, Wenxing Peng, Wenfang Chen, Fengxian Huang, Ruihan Tang, Wei Chen   +9 more
doaj   +2 more sources

Hsa_Circ_0008035 drives immune evasion of gastric cancer via promoting EXT1-mediated nuclear translocation of PKM2 [PDF]

Translational Oncology
Circular RNAs (circRNAs) have been reported to be associated with the malignant phenotypes of cancer. However, the role and underlying mechanism of hsa_Circ_0008035 in colorectal cancer (CRC) remains unclear. In this study, we elucidated the pivotal role
Rongqi Jiang, Ping Li, Enqing Meng, Xu Cheng, Xinyi Wu, Hao Wu   +5 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

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 ...
Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann‐Josef Lüdecke, Bekir Sıtkı Şaylı, Ugo E. Pazzaglia, Geert Mortier, B Hamel, Ernest U. Conrad, Mark Matsushita, W H Raskind, P J Willems   +15 more
openalex   +7 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 ...
Liesbeth Hameetman, Károly Szuhai, Arzu Yavaş, Jeroen Knijnenburg, Mark van Duin, Herman van Dekken, A. H. M. Taminiau, A.M. Cleton-Jansen, Judith V.M.G. Bovée, Pancras C.W. Hogendoorn   +9 more
openalex   +4 more sources

EXT1/EXT2-Associated Membranous Nephropathy Secondary to TAFRO Syndrome: A Case Report. [PDF]

Nephron
Kamido H, Oba Y, Kurihara S, Yamanouchi M, Suwabe T, Kono K, Ohashi K, Yamamoto S, Tsuji T, Ubara Y, Sawa N.   +10 more
europepmc   +2 more sources