Results 31 to 40 of about 3,145 (159)

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

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

Human Proteoglycan Linkage Region Glycosyltransferases are Dimeric and Show Unexpected Specificities

Angewandte Chemie, Volume 138, Issue 3, 16 January 2026.
Non‐canonical glycopeptides of the proteoglycan linkage region are accessible by the enzymes B3GalT6 and GlcAT‐1 confirming a recently discovered rescue mode in glycosaminoglycan (GAG) biosynthesis. The crystal structure of B3GalT6 revealed a covalent dimer linked by a disulfide. Abstract We selected the N,O‐glycosylated proteoglycan bikunin as a model
Sascha Weidler, Ole Bundgaard, Markus Hessefort, Marisa Rädisch, Christopher Günther Franz Graf, Kevin Lam, Vanessa J. Neubauer, Johanna Eisenreich, Leonhard Köhler, Kelley W. Moremen, Catharina Steentoft, Henrik Clausen, Teng‐Yi Huang, Shang‐Cheng Hung, Clemens Steegborn, Michael Weyand, Carlo Unverzagt   +16 more
wiley   +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

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

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

Mapping quantitative trait loci underlying body weight changes that act at different times during high‐fat diet challenge in collaborative cross mice

Animal Models and Experimental Medicine, EarlyView.
Over one billion people worldwide suffer from obesity, and the number is continually rising. Animal models, especially mouse models, are crucial to identifying the genetic components of complex disorders and exploring the potential applications of these genetic findings.
Hanifa J. Abu‐Toamih Atamni, Iqbal M. Lone, Ilona Binenbaum, Kareem Midlej, Eleftherios Pilalis, Richard Mott, Aristotelis Chatziioannou, Fuad A. Iraqi   +7 more
wiley   +1 more source

Role of EXT1 and Glycosaminoglycans in the Early Stage of Filovirus Entry [PDF]

Journal of Virology, 2015
ABSTRACT Filoviruses, including both Ebola virus (EBOV) and Marburg virus (MARV), can infect humans and other animals, causing hemorrhagic fever with a high mortality rate. Entry of these viruses into the host is mediated by a single filoviral glycoprotein (GP).
Aileen, O'Hearn, Minxiu, Wang, Han, Cheng, Calli M, Lear-Rooney, Katie, Koning, Emily, Rumschlag-Booms, Elizabeth, Varhegyi, Gene, Olinger, Lijun, Rong   +8 more
openaire   +2 more sources

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

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   +1 more source

Understanding bidirectional and transactional relations in parent and offspring mental health: Using COVID‐19 pandemic data to gain insights

JCPP Advances, EarlyView.
This study found that parent internalising symptoms predicted internalising symptoms in younger children, with no evidence of child‐driven effects. Among adolescents, mental health symptoms showed bidirectional associations with parent internalising symptoms, particularly for externalising symptoms.
Martha Oakes, Lowrie Hilladakis, Polly Waite, Cathy Creswell, Simona Skripkauskaite   +4 more
wiley   +1 more source