...PMP22), compared with age-matched wild type mice. Despite preserved SC dystrophin isoforms (Dp116 and Dp71), core compon...
...PMP22) showed robust selection stability. The diagnostic model achieved a LOOCV AUC of 0.769, a well-calibrated nomogram...
PMP22 duplications cause Charcot-Marie-Tooth disease (CMT), whereas PMP22 deletion results in hereditary neuropathy with...
...Pmp22) in T. scripta. TEM analysis of turtle sciatic nerves shows myelin rings in a few axons starting at stage 21, incr...
...Pmp22) through a hub subnetwork of phospholipid-metabolizing enzymes. Targeted qPCR validation of six candidate regulato...
...PMP22, FAM83A, HSD17B3, AGPAT4, SLC50A1, and ERBB3, which were associated with pathways including PI3K-Akt signaling, MA...
...PMP22-related CMT1A/HNPP and CMTX1) and 32 healthy controls underwent IVCCM. Corneal nerve fiber density (CNFD), length ...
...PMP22 gene testing. The patient exhibited gradually progressive relapsing-remitting sensorimotor symptoms without obviou...
...PMP22 gene in both the proband and his father. The PMP22 gene duplication was also present in his cousin, aunt, and gran...
...PMP22 gene. The period from the first clinical findings to genetic testing was considered as the "diagnostic odyssey." A...
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