Results 41 to 50 of about 4,059 (184)

Proteomic Analysis of Complement Proteins in Membranous Nephropathy

Kidney International Reports, 2020
Introduction: Membranous nephropathy (MN) is the most common cause of nephrotic syndrome in Caucasian adults. Phospholipase A2 receptor (PLA2R)– and exostosin 1 (EXT1)/exostosin 2 (EXT2)–associated MN represent the most common primary and secondary forms
Aishwarya Ravindran, Benjamin Madden, M. Cristine Charlesworth, Rishi Sharma, Amit Sethi, Hanna Debiec, Daniel Cattran, Fernando C. Fervenza, Richard J. Smith, Pierre Ronco, Sanjeev Sethi   +10 more
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Contribution of EXT1, EXT2, and EXTL3 to Heparan Sulfate Chain Elongation [PDF]

Journal of Biological Chemistry, 2007
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of this family have been cloned to date: EXT1, EXT2, EXTL1, EXTL2, and EXTL3. EXT1 and EXT2 are believed to form a Golgi-located hetero-oligomeric complex that catalyzes the chain elongation step in heparan sulfate biosynthesis,
Maria Wilén, Mona Grønning, Jenny Presto, Almir Feta, Marta Busse, Lena Kjellén, Marion Kusche-Gullberg, Marion Kusche-Gullberg   +7 more
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Epithelial heparan sulfate regulates Sonic Hedgehog signaling in lung development. [PDF]

PLoS Genetics, 2017
The tree-like structure of the mammalian lung is generated from branching morphogenesis, a reiterative process that is precisely regulated by numerous factors.
Hua He, Meina Huang, Shenfei Sun, Yihui Wu, Xinhua Lin   +4 more
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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
Michael J. Wagner, Michael J. Wagner, Dan E. Wells, Bernhard Horsthemke, April Hill, Lutz Schomburg, Xin Lin, H.-J. Lüdecke, Jung Ahn   +8 more
openaire   +3 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
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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
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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
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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 Roberts, Jonathan Gleadle
openalex   +3 more sources

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   +4 more sources

Study of Drug Target Identification and Associated Molecular Mechanisms for the Therapeutic Activity and Hair Follicle Induction of Two Ashwagandha Extracts Having Differential Withanolide Constitutions

Journal of Nutrition and Metabolism, 2023
Background. Ashwagandha extracts play a significant role in traditional Indian medicine to help treat a wide range of disorders from amnesia, erectile dysfunction, neurodegenerative and cardiovascular diseases, cancer, stress, anxiety, and many more ...
Franco Cavaleri, Sukalpa Chattopadhyay, Vrushalee Palsule, Pradip Kumar Kar, Ritam Chatterjee   +4 more
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