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Exploratory Associations of Targeted Genetic Variants with Cephalometric Airw...

Karaca Kurt(N),Algul(H),Ceylaner(S),Ceylan... Children (Basel) 2026-02-27

...PMP22. Exploratory group comparisons used Student's t-test. Results: Variants were identified in 13/48 participants (27%...

Safety, efficacy, and distal nerve Schwann cell biodistribution in mice and N...

Stavrou(M),Wallace(LM),Thangaraj(MP),Taylo... Mol Ther Nucleic Acids 2026-06-16

...PMP22 gene duplication, leading to overproduction of PMP22 protein in Schwann cells. To treat CMT1A, we developed a PMP2...

Longitudinal analysis of lipid changes in the sciatic nerve caused by overexp...

Hellings(TP),Lamzira-Arichi(N),Vreijling(J... J Lipid Res 2026-04-00

...PMP22) gene. PMP22 is crucial for formation of compact myelin, but the mechanism by which PMP22 overexpression results i...

Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and...

Yang(W),Zhou(L),Reynolds(GP),Wei(X) J Cent Nerv Syst Dis None

...PMP22 gene result in an over-expression of PMP22 mRNA, which overcomes the normal suppression by miRNA species that occu...

Exploring the potential mechanisms of hydroquinone on bladder cancer using ne...

Li(Y),Ma(Y),Lai(J),Wan(Q),Li(J),Wu(J) Discov Oncol 2026-02-27

...PMP22, TDP1, HBB, LMNA, and CA2—were selected. Single-cell sequencing analysis revealed their primary expression in fibr...

RHE1 is associated with short-day-induced hypocotyl elongation, peroxisomal R...

Lin(Y),Meng(Y),Ito(H) Plant Cell Physiol 2026-07-28

...PMP22 family protein REGULATOR OF ROS-MEDIATED HYPOCOTYL ELONGATION 1 (RHE1) as a regulator of short-day-induced hypocot...

Case Report: Influenza B-triggered CIDP revealing PMP22-related Dejerine-Sott...

Fan(Y),Qiao(J),Zhang(J),Zhao(J),Huang(X),C... Front Med (Lausanne) None

...PMP22-related hereditary demyelinating neuropathy with a severe Dejerine-Sottas-like phenotype. The patient had longstan...

When childbirth triggers a hidden neuropathy: hereditary neuropathy with liab...

Peydro-Lavoie(P),Le Masson(G),Mathis(S) Obstet Med 2026-08-20

...PMP22 gene deletion (or mutations), characterized by recurrent, compression-induced mononeuropathies. Postpartum neurolo...

Delayed Genetic Diagnosis of a Rare Presentation of Overlapping Peripheral My...

Pandey(HK),Gudenkauf(KJ),Swaminathan(V) Cureus 2026-07-00

Peripheral Myelin Protein 22 (PMP22) is a small integral membrane glycoprotein that is essential for the formation and m...

[Clinical pattern and evolution of Charcot-Marie-Tooth disease in pediatrics]...

Carrera Garcia(L),Estévez-Arias(B),Nascime... Medicina (B Aires) 2026-08-00

...PMP22 duplication (CMT1A), mutations in MPZ (CMT1B), mutations in GJB1 (X-linked CMT), and mutations in MFN2 (CMT2A). Th...

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