Results 41 to 50 of about 16,338 (222)

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

Journal of Genetics, 2015
The purpose of this study was to perform genetic screening of the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO). Initially, mutation analysis of the EXT1 gene was performed by Sanger sequencing.
George A. Tanteles, Michael Nicolaou, Vassos Neocleous, Christos Shammas, Maria A. Loizidou, Angelos Alexandrou, ELENA ELLINA, Nasia Patsia, Carolina Sismani, Leonidas A. Phylactou, Violetta Christophidou‐Anastasiadou   +10 more
openalex   +4 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

Genomic Organization and Promoter Structure of the Human EXT1 Gene

Genomics, 1997
Hereditary predisposition to multiple exostoses is a genetically heterogeneous disease. Recently, we have reported the identification of the EXT1 gene on human chromosome 8. We have now isolated a cDNA clone from a human adult lung cDNA library and have determined the genomic organization and promoter structure of the EXT1 gene. The gene is composed of
H J, Lüdecke, J, Ahn, X, Lin, A, Hill, M J, Wagner, L, Schomburg, B, Horsthemke, D E, Wells   +7 more
openaire   +2 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

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

Distinguished bases of exceptional modules

, 2012
Exceptional modules are tree modules. A tree module usually has many tree bases and the corresponding coefficient quivers may look quite differently.
C. M. Ringel, C. M. Ringel, C. M. Ringel, C. M. Ringel, C. M. Ringel, C. M. Ringel, P. Gabriel, R. Bautista, R. Kinser   +8 more
core   +1 more source

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

From triangulated categories to abelian categories--cluster tilting in a general framework

, 2006
We put cluster tilting in ageneral framework by showing that any quotient of a triangulated category modulo a tilting subcategory (that is, a maximal one-orthogonal subcategory) carries an abelian structure.
Koenig, Steffen, Zhu, Bin
core   +4 more sources

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

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