Matches in SemOpenAlex for { <https://semopenalex.org/work/W2096239637> ?p ?o ?g. }
Showing items 1 to 84 of
84
with 100 items per page.
- W2096239637 endingPage "707" @default.
- W2096239637 startingPage "702" @default.
- W2096239637 abstract "Hereditary neuropathy with liability to pressure palsies (HNPP) in most cases is caused by a deletion in chromosome 17p11.2-12 or, rarely, mutations resulting in a functional loss of one copy of the peripheral myelin protein 22 (PMP22) gene. Point mutations that lie deep within transmembrane (TM) domains causing major structural changes in PMP22 are associated with severe neuropathy.A 25-year-old asymptomatic woman with a normal neurologic examination volunteered as a control subject. Electrophysiologic studies showed multiple entrapment neuropathies, prompting a search for a genetic defect. In addition, sural nerve fascicles from the subject were grafted into the cut ends of the sciatic nerve of nude mice and studied at 2, 6, and 8 weeks and compared with controls.Direct sequencing of the PMP22 gene revealed a G-->A transition at position 202 in axon 3 of the PMP22 gene. To determine if this was a causative mutation rather than a polymorphism, 102 DNA samples from controls were studied; none showed a similar base pair change. In the nerve xenografts, there was a marked delay at the onset of myelination and an impairment in the regenerative capacity of the nude mice axons engulfed by the mutant human Schwann cells. The axon tips were enlarged and demonstrated neurofilament density increase. Neurofilament density distribution histograms were bimodal in xenografts as well as in the subject's sural nerve.This study provides unequivocal evidence that a base pair change causing a Val30Met substitution at the junction of the first TM domain and the extracellular loop of PMP22 results in the HNPP phenotype." @default.
- W2096239637 created "2016-06-24" @default.
- W2096239637 creator A5016629548 @default.
- W2096239637 creator A5019347256 @default.
- W2096239637 creator A5084658435 @default.
- W2096239637 date "1998-09-01" @default.
- W2096239637 modified "2023-09-25" @default.
- W2096239637 title "A novel PMP22 point mutation causing HNPP phenotype" @default.
- W2096239637 cites W1553663192 @default.
- W2096239637 cites W1977626530 @default.
- W2096239637 cites W2061865899 @default.
- W2096239637 cites W4236171978 @default.
- W2096239637 cites W4245516134 @default.
- W2096239637 doi "https://doi.org/10.1212/wnl.51.3.702" @default.
- W2096239637 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9748013" @default.
- W2096239637 hasPublicationYear "1998" @default.
- W2096239637 type Work @default.
- W2096239637 sameAs 2096239637 @default.
- W2096239637 citedByCount "38" @default.
- W2096239637 countsByYear W20962396372014 @default.
- W2096239637 countsByYear W20962396372015 @default.
- W2096239637 countsByYear W20962396372018 @default.
- W2096239637 countsByYear W20962396372020 @default.
- W2096239637 countsByYear W20962396372021 @default.
- W2096239637 crossrefType "journal-article" @default.
- W2096239637 hasAuthorship W2096239637A5016629548 @default.
- W2096239637 hasAuthorship W2096239637A5019347256 @default.
- W2096239637 hasAuthorship W2096239637A5084658435 @default.
- W2096239637 hasConcept C104317684 @default.
- W2096239637 hasConcept C105702510 @default.
- W2096239637 hasConcept C127716648 @default.
- W2096239637 hasConcept C142724271 @default.
- W2096239637 hasConcept C153911025 @default.
- W2096239637 hasConcept C169760540 @default.
- W2096239637 hasConcept C176944494 @default.
- W2096239637 hasConcept C2778609137 @default.
- W2096239637 hasConcept C2779530196 @default.
- W2096239637 hasConcept C2780923182 @default.
- W2096239637 hasConcept C2781006897 @default.
- W2096239637 hasConcept C2994225774 @default.
- W2096239637 hasConcept C501734568 @default.
- W2096239637 hasConcept C529278444 @default.
- W2096239637 hasConcept C54355233 @default.
- W2096239637 hasConcept C71924100 @default.
- W2096239637 hasConcept C86803240 @default.
- W2096239637 hasConceptScore W2096239637C104317684 @default.
- W2096239637 hasConceptScore W2096239637C105702510 @default.
- W2096239637 hasConceptScore W2096239637C127716648 @default.
- W2096239637 hasConceptScore W2096239637C142724271 @default.
- W2096239637 hasConceptScore W2096239637C153911025 @default.
- W2096239637 hasConceptScore W2096239637C169760540 @default.
- W2096239637 hasConceptScore W2096239637C176944494 @default.
- W2096239637 hasConceptScore W2096239637C2778609137 @default.
- W2096239637 hasConceptScore W2096239637C2779530196 @default.
- W2096239637 hasConceptScore W2096239637C2780923182 @default.
- W2096239637 hasConceptScore W2096239637C2781006897 @default.
- W2096239637 hasConceptScore W2096239637C2994225774 @default.
- W2096239637 hasConceptScore W2096239637C501734568 @default.
- W2096239637 hasConceptScore W2096239637C529278444 @default.
- W2096239637 hasConceptScore W2096239637C54355233 @default.
- W2096239637 hasConceptScore W2096239637C71924100 @default.
- W2096239637 hasConceptScore W2096239637C86803240 @default.
- W2096239637 hasIssue "3" @default.
- W2096239637 hasLocation W20962396371 @default.
- W2096239637 hasLocation W20962396372 @default.
- W2096239637 hasOpenAccess W2096239637 @default.
- W2096239637 hasPrimaryLocation W20962396371 @default.
- W2096239637 hasRelatedWork W1969302476 @default.
- W2096239637 hasRelatedWork W2031846255 @default.
- W2096239637 hasRelatedWork W2039450526 @default.
- W2096239637 hasRelatedWork W2041355051 @default.
- W2096239637 hasRelatedWork W2052086540 @default.
- W2096239637 hasRelatedWork W2060568482 @default.
- W2096239637 hasRelatedWork W2077183758 @default.
- W2096239637 hasRelatedWork W2083531614 @default.
- W2096239637 hasRelatedWork W2144452258 @default.
- W2096239637 hasRelatedWork W4225403201 @default.
- W2096239637 hasVolume "51" @default.
- W2096239637 isParatext "false" @default.
- W2096239637 isRetracted "false" @default.
- W2096239637 magId "2096239637" @default.
- W2096239637 workType "article" @default.