Matches in SemOpenAlex for { <https://semopenalex.org/work/W20237515> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W20237515 endingPage "96" @default.
- W20237515 startingPage "189" @default.
- W20237515 abstract "Leber hereditary optic neuropathy (LHON) is a maternally transmitted, bilateral optic neuropathy. Although mitochondrial (mt) DNA mutations are known to be associated with the maternal inheritance, there are few reviews on how they lead to optic neuropathy. In addition, low penetrance and male preponderance cannot be accounted for by mtDNA mutations alone.Presumable molecular mechanisms of LHON due to mtDNA mutations were reviewed based on cellular and molecular studies. Environmental factors regulating LHON expression were also extracted from pedigree analyses.Histopathologically, LHON, comprises apoptosis of retinal ganglion cells and chronic inflammation of the retrobulbar optic nerve. Trans-mitochondrial cybrid studies demonstrated that mtDNA mutations cause an increase in the production of reactive oxygen species. Over the last 50 years, the penetrance in females has been greatly reduced in both Japanese and Caucasian pedigrees. Smoking, over-consumption of alcohol, and sex hormones may control LHON expression.These findings indicate that LHON is not a monogenetic disease, but that LHON transmits a predisposition to develop optic neuropathy and requires additional factors triggering phenotypic expression. Therapeutic intervention including gene therapy should be further investigated." @default.
- W20237515 created "2016-06-24" @default.
- W20237515 creator A5059801301 @default.
- W20237515 date "2005-04-01" @default.
- W20237515 modified "2023-10-18" @default.
- W20237515 title "[A review of the molecular mechanism of development of Leber hereditary optic neuropathy]." @default.
- W20237515 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15859148" @default.
- W20237515 hasPublicationYear "2005" @default.
- W20237515 type Work @default.
- W20237515 sameAs 20237515 @default.
- W20237515 citedByCount "1" @default.
- W20237515 countsByYear W202375152017 @default.
- W20237515 crossrefType "journal-article" @default.
- W20237515 hasAuthorship W20237515A5059801301 @default.
- W20237515 hasConcept C104317684 @default.
- W20237515 hasConcept C127716648 @default.
- W20237515 hasConcept C169760540 @default.
- W20237515 hasConcept C200544954 @default.
- W20237515 hasConcept C22593422 @default.
- W20237515 hasConcept C24586158 @default.
- W20237515 hasConcept C2777056713 @default.
- W20237515 hasConcept C2777614518 @default.
- W20237515 hasConcept C2778233873 @default.
- W20237515 hasConcept C2780837183 @default.
- W20237515 hasConcept C28859421 @default.
- W20237515 hasConcept C501734568 @default.
- W20237515 hasConcept C54355233 @default.
- W20237515 hasConcept C71924100 @default.
- W20237515 hasConcept C86803240 @default.
- W20237515 hasConceptScore W20237515C104317684 @default.
- W20237515 hasConceptScore W20237515C127716648 @default.
- W20237515 hasConceptScore W20237515C169760540 @default.
- W20237515 hasConceptScore W20237515C200544954 @default.
- W20237515 hasConceptScore W20237515C22593422 @default.
- W20237515 hasConceptScore W20237515C24586158 @default.
- W20237515 hasConceptScore W20237515C2777056713 @default.
- W20237515 hasConceptScore W20237515C2777614518 @default.
- W20237515 hasConceptScore W20237515C2778233873 @default.
- W20237515 hasConceptScore W20237515C2780837183 @default.
- W20237515 hasConceptScore W20237515C28859421 @default.
- W20237515 hasConceptScore W20237515C501734568 @default.
- W20237515 hasConceptScore W20237515C54355233 @default.
- W20237515 hasConceptScore W20237515C71924100 @default.
- W20237515 hasConceptScore W20237515C86803240 @default.
- W20237515 hasIssue "4" @default.
- W20237515 hasLocation W202375151 @default.
- W20237515 hasOpenAccess W20237515 @default.
- W20237515 hasPrimaryLocation W202375151 @default.
- W20237515 hasRelatedWork W1972537862 @default.
- W20237515 hasRelatedWork W2008592651 @default.
- W20237515 hasRelatedWork W20237515 @default.
- W20237515 hasRelatedWork W2093875936 @default.
- W20237515 hasRelatedWork W2132384414 @default.
- W20237515 hasRelatedWork W2152409391 @default.
- W20237515 hasRelatedWork W2777432436 @default.
- W20237515 hasRelatedWork W3030385830 @default.
- W20237515 hasRelatedWork W3032488414 @default.
- W20237515 hasRelatedWork W376824534 @default.
- W20237515 hasVolume "109" @default.
- W20237515 isParatext "false" @default.
- W20237515 isRetracted "false" @default.
- W20237515 magId "20237515" @default.
- W20237515 workType "article" @default.