Results 71 to 80 of about 3,206 (131)

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 ...
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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

csRNA and heparan sulfate : cell surface ribonucleoproteins regulate HS-mediated signaling. [PDF]

Signal Transduct Target Ther
Li J, Ling J.
europepmc   +1 more source

Amyloid spatial extent with florbetapir-PET for early detection of preclinical Alzheimer's disease. [PDF]

J Prev Alzheimers Dis
Thibault EG, Del Carmen Montenegro G, Becker JA, Price JC, Healy BC, Hanseeuw BJ, Buckley RF, Jacobs HIL, Properzi MJ, Sperling RA, Johnson KA, Farrell ME.   +11 more
europepmc   +1 more source

The essential role of heparan sulfate in the entry of PDCoV and other porcine coronaviruses. [PDF]

Virulence
Ma N, Zhang M, Ghonaim AH, Zhou P, Wang C, Zhou J, Guo G, Lebbink RJ, Bosch BJ, Zhu H, Li W, He Q.   +11 more
europepmc   +1 more source

Dopamine and Calcium Dynamics in the Nucleus Accumbens Core during Food Seeking. [PDF]

eNeuro
Weber SJ, Driscoll GS, Beutler MM, Kuhn HM, Westlake JG, Wolf ME.   +5 more
europepmc   +1 more source

Haplotype Construction Using Embryos as Probands of the Pathogenic Variations in EXT1, CUL3, and HBA. [PDF]

Hum Mutat
Shu D, Liu Y, Wang X, Liang T, Wu Z.
europepmc   +1 more source

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions. [PDF]

Int J Mol Sci
Caramizaru A, Streata I, Pirvu A, Sosoi S, Dumitrescu A, Cucu M, Camen GC, Vasile D, Braha E, Riza AL, Dobrescu A, Burada F.   +11 more
europepmc   +1 more source

GPLD1 is a scavenger carrier mediating lysosomal degradation of extracellular aberrant proteins. [PDF]

Life Sci Alliance
Tsuchiya M, Yagishita Y, Itakura E.
europepmc   +1 more source

Long-term outcomes in primary membranous nephropathy: a Chinese cohort study with novel target antigen. [PDF]

Front Immunol
Guo P, Li W, Chen S, Yang X, Ma L, Wu C, Li G, Wang W.   +7 more
europepmc   +1 more source