Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

CNS myelination and PLP gene dosage.

Pharmacogenomics - 1 Aug 2001

Woodward K, Malcolm S

Abstract excerpt

The phenomenon of gene dosage effects demonstrates that the mechanisms of some genetic diseases are best recognised at the genomic level. Classical gene mutation screening approaches utilising PCR are unsuccessful in unravelling the basis of disease because the gene sequence is unaltered and only the copy number is different. Techniques for detecting DNA dosage are required. Examples of haploinsufficiency and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Myelin Sheath
Share to Pelizaeus-Merzbacher Disease
Share to Spastic Paraplegia, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Gene Dosage

Share to Gene Duplication

Share to Mutation

Share to Myelin Proteolipid Protein

Source

Identifiers

PMID: 11535114
DOI: 10.1517/14622416.2.3.263

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CNS myelination and PLP gene dosage.PMID 11535114Read ↗

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity.Semantic proximity Read ↗

Proteolipid protein gene: Pelizaeus-Merzbacher disease in humans and neurodegeneration in mice.Semantic proximity Read ↗

Increased gene dosage of myelin protein zero causes Charcot‐Marie‐Tooth diseaseSemantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Distinct phenotypes associated with increasing dosage of the PLP gene: implications for CMT1A due to PMP22 gene duplication.Semantic proximity Read ↗

The proteolipid protein gene and myelin disorders in man and animal models.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 ↗

Genetic basis of inherited peripheral neuropathies.Semantic proximity Read ↗

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

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage.Semantic proximity Read ↗

Charcot-Marie-Tooth phenotype produced by a duplicated PMP22 gene as part of a 17p trisomy-translocation to the X chromosome.Semantic proximity Read ↗

A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.