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Article

Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.

Journal of neuroscience research - 15 Sept 2001

Hai M, Bidichandani S I, Patel P I

Abstract excerpt

Over- and under expression of the 22 kDa peripheral myelin protein (PMP22) results in dysmyelinating peripheral neuropathies, such as Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy, with the liability to pressure palsies (HNPP). Expression of the PMP22 gene is driven by two alternative promoters, P1 and P2, with transcripts originating from P1 associated with peripheral nerve myelination by...

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Source

Identifiers

PMID: 11550219
DOI: 10.1002/jnr.1181

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a positive regulatory element in the myelin-specific promoter of the PMP22 gene.PMID 11550219Read ↗

Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.Semantic proximity Read ↗

Characterization of the cis-acting elements of the mouse myelin P2 promoter.Semantic proximity Read ↗

Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves.Semantic proximity Read ↗

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Studies on the effects of altered PMP22 expression during myelination in vitroSemantic proximity Read ↗

The PMP22 gene and its related diseases.Semantic proximity Read ↗

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.Semantic proximity Read ↗

Many facets of the peripheral myelin protein PMP22 in myelination and disease.Semantic proximity Read ↗

Deletion of the PMP22 gene and hereditary neuropathy with liability to pressure palsies.Semantic proximity Read ↗

Expression of the exon 1A-containing PMP22 transcript is altered in the trembler mouse.Semantic proximity Read ↗

SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.Semantic proximity Read ↗

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.Semantic proximity Read ↗

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