Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas
George A. Tanteles +10 more
openalex +2 more sources
Exostoses 1 (EXT1); syndecan 1 (SDC1; CD138) [PDF]
openaire +1 more source
Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
Wei-De Lin +3 more
openalex +1 more source
Mutations in the heparan sulfate backbone elongating enzymes EXT1 and EXT2 have no major effect on endothelial glycocalyx and the glomerular filtration barrier [PDF]
Ramzi Khalil +27 more
openalex +1 more source
Multi-Omics and Single-Cell Dissection of Exostosin Glycosyltransferases (EXT1/EXT2) Reveals Divergent Oncogenic Roles and Therapeutic Vulnerabilities in Gliomas. [PDF]
Chiang YC +24 more
europepmc +1 more source
【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
The essential role of heparan sulfate in the entry of PDCoV and other porcine coronaviruses. [PDF]
Ma N +11 more
europepmc +1 more source
Malignancy Ratio in Pediatric Patients with Hereditary Multiple Exostoses: True Association or Reporting Bias? [PDF]
Comisi FF +3 more
europepmc +1 more source

