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Article

The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.

Acta biochimica Polonica - 1 Jan 2010

Sinkiewicz-Darol Elena, Kabzińska Dagmara, Moszyńska Izabela, Kochański Andrzej

Abstract excerpt

Little is known about the molecular background of clinical variability of Charcot-Marie-Tooth type 1A (CMT1A) disease and hereditary neuropathy with liability to pressure palsies (HNPP). The CMT1A and HNPP disorders result from duplication and deletion of the PMP22 gene respectively. In a series of studies performed on affected animal transgenic models of CMT1A disease, expression of the PMP22 gene (gene dosage)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 20842290

Genes

PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The 5' regulatory sequence of the PMP22 in the patients with Charcot-Marie-Tooth disease.PMID 20842290Read ↗

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

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Gene dosage effects in hereditary peripheral neuropathy. Expression of peripheral myelin protein 22 in Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies nerve biopsies.Semantic proximity Read ↗

Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.Semantic proximity Read ↗

Severe phenotype with cis-acting heterozygous PMP22 mutations.Semantic proximity Read ↗

Absence of PMP22 coding region mutations in CMT1A duplication patients: further evidence supporting gene dosage as a mechanism for Charcot-Marie-Tooth disease type 1A.Semantic proximity Read ↗

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

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies.Semantic proximity Read ↗

PMP22 Thr118Met is not a clinically relevant CMT1 marker.Semantic proximity Read ↗

PMP22 messenger RNA levels in skin biopsies: testing the effectiveness of a Charcot-Marie-Tooth 1A biomarkerSemantic proximity Read ↗

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.Semantic proximity Read ↗

[Abnormality of PMP-22 gene in Japanese patients with Charcot-Marie-Tooth disease--comparison between Southern blot and polymerase chain reaction analysis in the detection of PMP-22 gene duplication].Semantic proximity Read ↗

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