Gene duplications, deletions, and point mutations in peripheral myelin protein 22 (PMP22) are linked to several inherite...
...PMP22 Claudin protein family. Members of this family are transmembrane proteins with roles in differentiation, prolifera...
...PMP22, and alpha-globin genes. The reliability of this novel methodology shows that it is a relatively speedy and low-co...
...PMP22), myelin protein zero (MPZ), gap junction beta-1 protein (GJB1), and NEFL genes were analyzed by direct DNA sequen...
...PMP22 gene and other genes. However, whether other genes besides PMP22 contribute to the phenotype is unknown. Whether a...
...PMP22), appear to make aberrant proteins that accumulate primarily within the endoplasmic reticulum (ER), resulting in S...
...PMP22). It reacted specifically with human PMP22 and not with other human myelin proteins and did not react with bovine,...
...PMP22 expression. In this study, we demonstrated that ascorbic acid represses PMP22 gene expression by acting on intrace...
...Pmp22 mRNA. Thus, unlike the Pou3f1 null mice, the condPou3f1:MPZ(Cre) mice exhibit persistent hypomyelination, indicati...
...PMP22) gene. Smaller deletions partially affecting the PMP22 gene are less frequently observed. We identified in a HNPP ...
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