Results 121 to 130 of about 3,834 (197)

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

, 2009
Item does not contain fulltextMutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German
Heinritz, W., Leinung, S., Miterski, B., Bohring, A., Mitulla, B., Axel Bohring, Beate Mitulla, Bianca Miterski, Usha Peters, Steffen Leinung, Froster, U.G., Ursula G. Froster, Sibylle Strenge, Christiane Zweier, Strenge, S., Peters, U., Huffmeier, U., Zweier, C., Wolfram Heinritz, Ulrike Hüffmeier   +19 more
core   +1 more source

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

, 2019
: Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.
Blackburn, Patrick R., Webley, Matthew, Vairo, Filippo Pinto e, Conboy, Erin, Ferber, Matthew, Klee, Eric W., Ellingson, Marissa S., Van Hul, Els, Oliver, Gavin R., Thorland, Erik, van der Werf, Ilse, Babovic-Vuksanovic, Dusica, Wuyts, Wim   +12 more
core  

EXT1 and EXT2 regulate chondrogenesis by modulation of WNT signaling [PDF]

Osteoarthritis and Cartilage, 2018
X. Wang, S. Monteagudo, R. Lories
openaire   +1 more source

Multi-Omics and Single-Cell Dissection Reveals EXT1 as a Glycosylation-Linked Therapeutic Target in Cancer. [PDF]

Oncol Res
Hsu WH, Chang KF, Chang CH, Lin HR, Wu CJ, Ko CC, Wu CC, Ho YC, Lin CC, Yuan CH, Kumar S, Solomon DD, Wulandari FS, Ngadio JL, Xuan DTM, Hsieh CB, Chiao CC, Nguyen NUN, Wang CY, Lee YK.   +19 more
europepmc   +1 more source

Progenitors from distinct perichondrium layers initiate tumor formation in hereditary multiple osteochondromas as revealed in a mouse model. [PDF]

Bone
Mundy C, Ramesh S, Catheline SE, Saunders C, Koyama E, Pacifici M.   +5 more
europepmc   +1 more source

On Ext1 for Drinfeld modules

Journal of Number Theory
Dawid Edmund Kędzierski, Piotr Krasoń
openaire   +1 more source

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

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).
Urreizti Frexedas, Roser, Martinez-Domenech, G., Dodelson, R., Robledo, H. H., Balcells Comas, Susana, Grinberg Vaisman, Daniel Raúl, Asteggiano, Carla, Delgado, M. A., Sarrión, P., Zecchini, L., Segura, F.   +10 more
core  

Endothelial-erythrocyte glycocalyx exchange enables liquid biopsies of endothelial function. [PDF]

Nat Commun
Butler MJ, Ramnath RR, Crompton M, Aldam J, Gamez M, Down C, Heffer C, Neal C, Li J, Qiu Y, Carey L, Skinner L, Cross S, Yu Y, Sutak J, Bills V, Welsh GI, Foster RR, Satchell SC.   +18 more
europepmc   +1 more source

遗传性多发性骨软骨瘤致病基因EXT1和EXT2的多态性研究

Zhongshan Daxue xuebao. Yixue kexue ban, 2011
【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
doaj  

Multi-Omics and Single-Cell Dissection of Exostosin Glycosyltransferases (EXT1/EXT2) Reveals Divergent Oncogenic Roles and Therapeutic Vulnerabilities in Gliomas. [PDF]

J Cancer
Chiang YC, Wang CY, Palekkode N, Yang SF, Chang KF, Ko CC, Chang CH, Lin HR, Wu CJ, Ho YC, Lin CC, Yuan CH, Kumar S, Solomon DD, Ngadio JL, Wulandari FS, Xuan DTM, Hsieh CB, Yen MC, Yeh IJ, Ko PC, Shih CL, Chan HB, Lee YK, Nguyen NUN.   +24 more
europepmc   +1 more source