Results 11 to 20 of about 3,833 (199)

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

Nature Communications, 2022
Heparan sulfates are long and complex polysaccharides that mediate a large number of biological processes at the cell surface. Here, the authors provide structural and functional insights into the human EXT1-EXT2 complex that carries out the ...
Francisco Leisico, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild   +11 more
doaj   +6 more sources

EXT1 (exostoses (multiple) 1) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2002
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is ...
Bovée, JVMG
core   +3 more sources

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin ...
Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi   +9 more
doaj   +3 more sources

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

Scientific Reports, 2018
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Vilaseca, M. A., Lapunzina, Pablo, Torner Rubies, Ferran, Urreizti, Roser, Asteggiano, Carla, Balcells Comas, Susana, Sangorrin, A., Artuch Iriberri, Rafael, Sarrión Pérez-Caballero, Patricia, Martorell, L., Delgado, A., Antón López, Jordi, Grinberg Vaisman, Daniel Raúl, Armstrong i Morón, Judith, Nevado, J.   +14 more
core   +9 more sources

The role of EXT1 in nonhereditary osteochondroma: Identification of homozygous deletions [PDF]

JNCI Journal of the National Cancer Institute, 2007
Background: Multiple osteochondromas is a hereditary syndrome that is characterized by the formation of cartilagecapped bony neoplasms (osteochondromas), for which exostosis (multiple)-1 (EXT1) has been identified as a causative gene. However, 85% of all
Yavas, A, Szuhai, K, Knijnenburg, J. (Jeroen), Cleton-Jansen, AM (Anne-Marie), Bovee, JVMG, Yavas, A. (Ayse), Szuhai, K. (Karoly), Dekken, H. (Herman) van, Hameetman, L, van Dekken, H (Herman), Cleton-Jansen, A. (Anne-Marie), van Duin, Mark, Hameetman, L. (Liesbeth), Hogendoorn, PCW, Taminiau, AHM, Hogendoorn, P.C.W. (Pancras), Bovée, J.V.M.G. (Judith), Taminiau, A.H.M. (Antonie), Duin, M. (Mark) van, Knijnenburg, J   +19 more
core   +3 more sources

Ext1 regulates chondrocyte differentiation

, 2003
Hereditary multiple exostoses (HME) syndrome is an autosomal dominant inherited human disorder, which is characterized by the formation of multiple cartilaginous capped benign tumors (exostoses) that develop from the growth plate of endochondral bones ...
Kunath, Melanie, Vortkamp, A., Koziel, Lydia, Vortkamp, Andrea, Koziel, L., Kunath, M., Kelly, O., Skarnes, B.   +7 more
core   +2 more sources

A broad spectrum of genomic changes in Latinamerican patients with EXT1/EXT2-CDG [PDF]

Scientific Reports, 2018
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas).
Martinez-Domenech, G., Urreizti, Roser, Robledo, H. H., Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla, Dodelson de Kremer, Raquel, Delgado, M. A., Zecchini, L., Segura, F., Sarrión Pérez-Caballero, Patricia   +10 more
core   +8 more sources

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

Human Mutation, 2005
We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep ...
Elena Pedrini, Alessandro De Luca, Enza Maria Valente   +2 more
exaly   +2 more sources

First-line PD-1 inhibitor plus chemotherapy improves outcomes in advanced gastric cancer and correlates with specific biomarkers in a real-world cohort [PDF]

Discover Oncology
Background Immune checkpoint inhibitors (ICIs) have become the main treatment method for human epidermal growth factor receptor 2 (HER2)-negative advanced gastric cancer (GC). This study analyzed from real-world data the efficacy of first-line programmed
Xiaoting Ma, Kai Ou, Wenwei Yang, Biyang Cao, Jie Chen, Qi Wang, Lizhen Gao, Lin Yang   +7 more
doaj   +2 more sources

Identification and functional characterization of the human **EXT1** promoter region

Gene, 2012
: Background: Mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2) cause the autosomal dominant disorder multiple osteochondromas (MO). This disease is mainly characterized by the appearance of multiple cartilage-capped protuberances arising from ...
De Cock, Greet, Jennes, Ivy, Pedrini, Elena, Fransen, Erik, Sangiorgi, Luca, Mees, Kirsten, Wuyts, Wim, Zuntini, Monia, Palagani, Ajay, Vanden Berghe, Wim   +9 more
core   +4 more sources