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PMP22 encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Zusätzlich bieten wir Ihnen PMP22 Antikörper (95) und PMP22 Kits (29) und viele weitere Produktgruppen zu diesem Protein an.
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In this Chinese Han population, the frequency of PMP22 gene duplication in those with CMT1 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 Proteine) 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 Proteine) 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 Proteine) and co-activators Yap (zeige YAP1 Proteine) and Taz (zeige TAZ Proteine) are required for Pmp22 expression, as well as for the expression of Egr2 (zeige EGR2 Proteine) Tead1 (zeige TEAD1 Proteine) directly binds Pmp22 and Egr2 (zeige EGR2 Proteine) enhancers early in development and Tead1 (zeige TEAD1 Proteine) binding is induced during myelination, correlating with Pmp22 expression. The data identify Tead1 (zeige TEAD1 Proteine) as a novel regulator of Pmp22 expression during development in concert with Sox10 (zeige SOX10 Proteine) and Egr2 (zeige EGR2 Proteine)
This study demonstrated We show that blink (zeige TGFb Proteine) 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 Proteine)-200bc/429 inhibit OS cells proliferation and invasion by targeting PMP22, and function as a tumor suppressor.
PMP22 deletion leads to functional, metabolic and macro-structural alterations in the afferent visual system of hereditary neuropathy with liability to pressure palsies patients.
we report molecular and clinical characterizations of six subjects with the reciprocal phenomenon of deletions spanning both genes, i.e., PMP22-RAI1 (zeige DOM3Z Proteine) deletions. Systematic clinical studies revealed features consistent with SMS (zeige SMS Proteine), including features of intellectual disability, speech and gross motor delays, behavioral problems and ocular abnormalities.
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 Proteine) and Sox10 (zeige SOX10 Proteine) 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