Results 41 to 50 of about 4,149 (184)

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis [PDF]

EMBO reports, 2000
The D‐glucuronyltransferase and N‐acetyl‐D‐glucosaminyltransferase reactions in heparan sulfate biosynthesis have been associated with two genes, EXT1 and EXT2, which are also implicated in the inherited bone disorder, multiple exostoses. Since the cell systems used to express recombinant EXT proteins synthesize endogenous heparan sulfate, and the EXT ...
Claire Senay, Thomas Lind, Kumi Muguruma, Yuko Tone, Hiroshi Kitagawa, Kazuyuki Sugahara, Kerstin Lidholt, Ulf Lindahl, Marion Kusche‐Gullberg   +8 more
openalex   +4 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

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 ...
Wei-De Lin, Wuh-Liang Hwu, Chung-Hsing Wang, Fuu‐Jen Tsai   +3 more
openalex   +4 more sources

Familial Nephropathy and Multiple Exostoses With Exostosin-1 (EXT1) Gene Mutation [PDF]

Journal of the American Society of Nephrology, 2008
Glomerular deposition of fibrillar collagen is a characteristic finding of genetically distinct conditions, including nail-patella syndrome and collagen type III glomerulopathy. A case of familial nephropathy in which steroid-sensitive nephrotic syndrome and glomerular deposits of fibrillar collagen are associated with multiple exostoses due to ...
Ian S D, Roberts, Jonathan M, Gleadle
openaire   +2 more sources

EXT1 as an Independent Prognostic Biomarker in Breast Cancer: Its Correlation with Immune Infiltration and Clinicopathological Parameters

Immuno
Exostosin 1 (EXT1) encodes a type II transmembrane glycosyltransferase residing in the endoplasmic reticulum and plays an essential role in the elongation of heparan sulfate chain biosynthesis. Additionally, EXT1 may act as an oncogene that could promote
Amira Hossny, Hatem A. F. M. Hassan, Sherif Ashraf Fahmy, Hazem Abdelazim, Mahmoud Mohamed Kamel, Ahmed H. Osman, Sherif Abdelaziz Ibrahim   +6 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

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

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

Genomic and clinical correlates of 5 deep learning‐based neuroimaging signatures of neurodegeneration, evaluated in ADSP [PDF]

Alzheimers Dement
Abstract Background Deep learning methods help to disentangle heterogeneity of brain aging and find distinct neuroimaging patterns of neurodegeneration. However, the relationship between aging‐related brain atrophy patterns and genetics is complex and requires further exploration.
Cui Y, Srinivasan D, Yang Z, Wen J, Erus G, Hohman T, Saykin A, Thompson P, Shen L, Davatzikos C.   +9 more
europepmc   +2 more sources