Matches in SemOpenAlex for { <https://semopenalex.org/work/W87332989> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W87332989 endingPage "6" @default.
- W87332989 startingPage "HY23" @default.
- W87332989 abstract "Congenital malformations of the eye can cause blindness in children. They occur throughout the world and in most cases the aetiology is unknown. Linkage studies have largely been unsuccessful and the risk to siblings is generally low. Epidemiological and laboratory evidence support a hypothesis that there may be genetic (recessive) predisposition to the teratogenetic effects of mild to moderate maternal vitamin A deficiency (VAD) during pregnancy. This may explain the higher prevalence of congenital eye anomalies in a part of Asian countries, where maternal VAD is common and consanguineous marriages are popular. Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related. Mutations in a gene involved in the cellular access to vitamin A that normally protects the tissue or embryo from natural variation in dietary vitamin A intake, could render that individual intolerant of conditions of VAD. An interaction of this kind could also explain a proportion of sporadic cases in locations where VAD is uncommon. If this interaction is shown to be true, there are public health implications for the prevention of blindness due to congenital eye malformations. The hypotheses proposed above are reminiscent of the research leading to the discovery that folic acid supplementation could prevent neural tube defects. However, this form of intervention would be much more difficult with vitamin A, which is itself a powerful teratogen if present in excess." @default.
- W87332989 created "2016-06-24" @default.
- W87332989 creator A5001123392 @default.
- W87332989 creator A5023438771 @default.
- W87332989 creator A5056139238 @default.
- W87332989 date "2003-11-01" @default.
- W87332989 modified "2023-09-23" @default.
- W87332989 title "Eye birth defects in humans may be caused by a recessively-inherited genetic predisposition to the effects of maternal vitamin A deficiency during pregnancy." @default.
- W87332989 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14586282" @default.
- W87332989 hasPublicationYear "2003" @default.
- W87332989 type Work @default.
- W87332989 sameAs 87332989 @default.
- W87332989 citedByCount "18" @default.
- W87332989 countsByYear W873329892014 @default.
- W87332989 countsByYear W873329892015 @default.
- W87332989 countsByYear W873329892016 @default.
- W87332989 countsByYear W873329892019 @default.
- W87332989 countsByYear W873329892021 @default.
- W87332989 countsByYear W873329892022 @default.
- W87332989 crossrefType "journal-article" @default.
- W87332989 hasAuthorship W87332989A5001123392 @default.
- W87332989 hasAuthorship W87332989A5023438771 @default.
- W87332989 hasAuthorship W87332989A5056139238 @default.
- W87332989 hasConcept C104317684 @default.
- W87332989 hasConcept C134018914 @default.
- W87332989 hasConcept C137627325 @default.
- W87332989 hasConcept C142724271 @default.
- W87332989 hasConcept C172680121 @default.
- W87332989 hasConcept C187212893 @default.
- W87332989 hasConcept C196843134 @default.
- W87332989 hasConcept C2776940978 @default.
- W87332989 hasConcept C2777424935 @default.
- W87332989 hasConcept C2778085061 @default.
- W87332989 hasConcept C2778129702 @default.
- W87332989 hasConcept C2778376644 @default.
- W87332989 hasConcept C2779234561 @default.
- W87332989 hasConcept C2779531571 @default.
- W87332989 hasConcept C2779573558 @default.
- W87332989 hasConcept C2779918416 @default.
- W87332989 hasConcept C2780594696 @default.
- W87332989 hasConcept C54355233 @default.
- W87332989 hasConcept C65290608 @default.
- W87332989 hasConcept C67636389 @default.
- W87332989 hasConcept C69991583 @default.
- W87332989 hasConcept C71924100 @default.
- W87332989 hasConcept C86803240 @default.
- W87332989 hasConceptScore W87332989C104317684 @default.
- W87332989 hasConceptScore W87332989C134018914 @default.
- W87332989 hasConceptScore W87332989C137627325 @default.
- W87332989 hasConceptScore W87332989C142724271 @default.
- W87332989 hasConceptScore W87332989C172680121 @default.
- W87332989 hasConceptScore W87332989C187212893 @default.
- W87332989 hasConceptScore W87332989C196843134 @default.
- W87332989 hasConceptScore W87332989C2776940978 @default.
- W87332989 hasConceptScore W87332989C2777424935 @default.
- W87332989 hasConceptScore W87332989C2778085061 @default.
- W87332989 hasConceptScore W87332989C2778129702 @default.
- W87332989 hasConceptScore W87332989C2778376644 @default.
- W87332989 hasConceptScore W87332989C2779234561 @default.
- W87332989 hasConceptScore W87332989C2779531571 @default.
- W87332989 hasConceptScore W87332989C2779573558 @default.
- W87332989 hasConceptScore W87332989C2779918416 @default.
- W87332989 hasConceptScore W87332989C2780594696 @default.
- W87332989 hasConceptScore W87332989C54355233 @default.
- W87332989 hasConceptScore W87332989C65290608 @default.
- W87332989 hasConceptScore W87332989C67636389 @default.
- W87332989 hasConceptScore W87332989C69991583 @default.
- W87332989 hasConceptScore W87332989C71924100 @default.
- W87332989 hasConceptScore W87332989C86803240 @default.
- W87332989 hasIssue "11" @default.
- W87332989 hasLocation W873329891 @default.
- W87332989 hasOpenAccess W87332989 @default.
- W87332989 hasPrimaryLocation W873329891 @default.
- W87332989 hasRelatedWork W1967898508 @default.
- W87332989 hasRelatedWork W1967993707 @default.
- W87332989 hasRelatedWork W2070781700 @default.
- W87332989 hasRelatedWork W2077919983 @default.
- W87332989 hasRelatedWork W2099490205 @default.
- W87332989 hasRelatedWork W2137719098 @default.
- W87332989 hasRelatedWork W2149156230 @default.
- W87332989 hasRelatedWork W2542063369 @default.
- W87332989 hasRelatedWork W2572973768 @default.
- W87332989 hasRelatedWork W87332989 @default.
- W87332989 hasVolume "9" @default.
- W87332989 isParatext "false" @default.
- W87332989 isRetracted "false" @default.
- W87332989 magId "87332989" @default.
- W87332989 workType "article" @default.