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PMP22 encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system.
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This study supported the notion that missense mutations in PMP22 give rise to a Charcot-Marie-Tooth Disease phenotype, possibly through a toxic gain-of-function mechanism.
We identified that PMP22 not only acts as a marker for gastric CSCs but may also have an essential role in regulating the self-renewal and chemoresistance of gastric cancer. Our findings suggest that PMP22 has clinical value for the prognosis and treatment of chemoresistant gastric cancer
In this Chinese Han population, the frequency of PMP22 gene duplication in those with CMT1 (zeige MPZ ELISA Kits) was slightly (50% vs. 70%-80%) less than in Western/Caucasian populations.
PMP22 polymorphism is associated with tuberculosis.
The studies implicating GAS3 protein family (EMP1, EMP2, EMP3 (zeige EMP3 ELISA Kits) and PMP22) in cancer pathogenesis as well as probe the structural similarities between the family members were highlighted.
A Computational Approach to Identify a Potential Alternative Drug With Its Positive Impact Toward PMP22.
Exome sequencing identified MFN2 (zeige MFN2 ELISA Kits) SNVs in two of the individuals. Neuropathy-associated CNV outside of the PMP22 locus is rare in Charcot-Marie-Tooth (CMT) disease . Nevertheless, there is potential clinical utility in testing for CNVs and exome sequencing in CMT cases negative for the CMT1A duplication.
We discovered that Tead1 (zeige TEAD1 ELISA Kits) and co-activators Yap (zeige YAP1 ELISA Kits) and Taz (zeige TAZ ELISA Kits) are required for Pmp22 expression, as well as for the expression of Egr2 (zeige EGR2 ELISA Kits) Tead1 (zeige TEAD1 ELISA Kits) directly binds Pmp22 and Egr2 (zeige EGR2 ELISA Kits) enhancers early in development and Tead1 (zeige TEAD1 ELISA Kits) binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 (zeige TEAD1 ELISA Kits) as a novel regulator of Pmp22 expression during development in concert with Sox10 (zeige SOX10 ELISA Kits) and Egr2 (zeige EGR2 ELISA Kits)
This study demonstrated We show that blink (zeige TGFb ELISA Kits) reflex studies are reliable for identification of inherited demyelinating polyneuropathy (with pmp22 mutation) regardless of severity and can facilitate algorithmic decisions in genetic testing.
Findings suggest that miR (zeige MLXIP ELISA Kits)-200bc/429 inhibit OS cells proliferation and invasion by targeting PMP22, and function as a tumor suppressor.
selective suppression of the Pmp22 mutant allele by non-viral delivery of siRNA alleviates the demyelinating neuropathic phenotypes of Charcot-Marie-Tooth disease in vivo
The basal lamina and PMP22 act in concert to contribute to a resilience and integrity of peripheral nerves at the single fibre level.
A role was identified for PMP22 in the linkage of the actin cytoskeleton with the plasma membrane.
This study demonistrated that Paranodal dysmyelination in peripheral nerves of Trembler mice.
This study showed that a number of ongoing pathogenic mechanisms contribute to the progression of the neuropathy in C22 mice, which initiates with abnormal expression of PMP22.
This study revealed a novel mechanism by which PMP22 deficiency affects nerve conduction not through removal of myelin, but through disruption of myelin junctions
This study showed that mouse PMP22 is palmitoylated at C85 and mutating C85S abolishes PMP22 palmitoylation.
Peripheral myelin protein 22 (PMP22) performs distinct actions on the formation, maturation, degeneration and regeneration of sciatic nerve myelin sheath.
Egr2 (zeige EGR2 ELISA Kits) and Sox10 (zeige SOX10 ELISA Kits) activity are directly involved in mediating the developmental induction of Pmp22 expression through an intronic enhancer.
The results of this study indicated that an adequate pmp22 transcription level is necessary for correct myelination of jawed vertebrates.
This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein.
growth arrest-specific protein 3
, peripheral myelin protein, 22 kDa
, SR13 myelin protein
, schwann cell membrane glycoprotein
, peripheral myelin protein 22
, PAS positive glycoprotein