Results 21 to 30 of about 3,145 (159)

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous Deletions [PDF]

JNCI Journal of the National Cancer Institute, 2007
Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilage-capped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all osteochondromas present as solitary (nonhereditary) lesions in which somatic mutations in EXT1 are extremely ...
Hameetman, L, Szuhai, K, Yavas, A, Knijnenburg, J, van Duin, Mark, van Dekken, H (Herman), Taminiau, AHM, Cleton-Jansen, AM (Anne-Marie), Bovee, JVMG, Hogendoorn, PCW   +9 more
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Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses [PDF]

The American Journal of Human Genetics, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may ...
WUYTS W, VAN HUL W, DE BOULLE K, HANDRICKX J, BAKKER E, VANHOENACKER F, MOLLICA F, LUDECKE HJ, SAYLI BS, PAZZAGLIA, Ugo, MORTIER G, HAMEL B, CONRAD EU, MATSUSHITA M, RASHIND WH, WILLEMS PJ   +15 more
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EXT1 (exostoses (multiple) 1) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is implicated.
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RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas [PDF]

Molecular Genetics & Genomic Medicine, 2019
AbstractBackgroundWe describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.MethodsThe patient underwent extensive genetic testing and analysis in an attempt to diagnose the cause of his condition.
Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. van der Werf, Wim Wuyts, Dusica Babovic‐Vuksanovic, Eric W. Klee   +12 more
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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,
Marta, Busse, Almir, Feta, Jenny, Presto, Maria, Wilén, Mona, Grønning, Lena, Kjellén, Marion, Kusche-Gullberg   +6 more
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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
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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
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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 S D, Roberts, Jonathan M, Gleadle
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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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