Results 31 to 40 of about 3,263 (170)

A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes [PDF]

Proceedings of the National Academy of Sciences, 2010
We report a mouse model of multiple osteochondromas (MO), an autosomal dominant disease in humans, also known as multiple hereditary exostoses (MHE or HME) and characterized by the formation of cartilage-capped osseous growths projecting from the metaphyses of endochondral bones.
Jones, Kevin B., Piombo, Virginia, Searby, Charles, Kurriger, Gail, Yang, Baoli, Grabellus, Florian, Roughley, Peter J., Morcuende, Jose A., Buckwalter, Joseph A., Capecchi, Mario R., Vortkamp, Andrea, Sheffield, Val C.   +11 more
openaire   +3 more sources

Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations [PDF]

Journal of Bone and Mineral Research, 2000
Abstract The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas. Two HME disease genes, EXT1 and EXT2, have been identified and are expressed ubiquitously.
M A, Bernard, D A, Hogue, W G, Cole, T, Sanford, M B, Snuggs, D, Montufar-Solis, P J, Duke, D D, Carson, A, Scott, W B, Van Winkle, J T, Hecht   +10 more
openaire   +2 more sources

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole‐Exome Sequencing

Orthopaedic Surgery, 2020
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME ...
Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang   +4 more
doaj   +1 more source

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

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   +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

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

BioMedicine, 2014
Multiple hereditary exostoses (MHE) is characterized by multiple benign projections of bone capped by cartilage, most numerous in metaphyses of long bones. HME are usually inherited in autosomal dominant mode, chief genes EXT1 and EXT2.Two MHE patients were identified from clinic and enrolled in genetic study, complete coding regions of EXT1 and EXT2 ...
Lin, Wei-De, Hwu, Wuh-Liang, Wang, Chung-Hsing, Tsai, Fuu-Jen   +3 more
openaire   +2 more sources

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG [PDF]

Scientific Reports, 2014
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition.
Delgado, M. A., Martinez-Domenech, G., Sarrión Pérez-Caballero, Patricia, Urreizti, Roser, Zecchini, L., Robledo, H. H., Segura, F., Dodelson de Kremer, Raquel, Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla   +10 more
openaire   +5 more sources

Rare case of exostosin 1/exostosin 2-related membranous lupus nephritis concomitant with dual ANCA- and anti-GBM antibody-associated crescentic glomerulonephritis effectively diagnosed by mass spectrometry: a case report

BMC Nephrology, 2023
Background Recent developments in mass spectrometry (MS) have revealed target antigens for membranous nephropathy (MN), including phospholipase A2 receptor and exostosin 1/exostosin 2 (EXT1/2).
Takuya Yamazaki, Haruka Takahashi, Kazuhiro Takeuchi, Emi Sakamoto, Kenta Tominaga, Syun Sakurabayashi, Tetsuya Abe, Takashi Sano, Yukihiro Wada, Naomi Kuwahara, Akira Shimizu, Yasuo Takeuchi   +11 more
doaj   +1 more source

Ext1-targeted gene therapy ameliorates tauopathy by inhibiting heparan sulfate-dependent tau propagation

Pharmacological Research
The propagation of pathological tau protein in neuronal cells is a critical driver of neurodegeneration in tauopathies, including Alzheimer's disease.
Rongyao Huang, Xiaoxun Ye, Jiayi Liu, Chunyan Yang, Xiaoya Meng, Tingting Dou, Xiaoqing Zhuang, Jinghan Yang, Naizhen Zheng, Yang Zhao, Zhongan Wang, Qin Wang, Jin Hu   +12 more
doaj   +1 more source

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   +1 more source