FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2143011514> ?p ?o ?g. }

• W2143011514 endingPage "169" @default.
• W2143011514 startingPage "162" @default.
• W2143011514 abstract "Analysing human genetic variation provides a powerful tool in understanding risk factors for disease. Toxoplasma gondii acquired by the mother can be transmitted to the fetus. Infants with the most severe clinical signs in brain and eye are those infected early in pregnancy when fetal immunity is least well developed. Genetic analysis could provide unique insight into events in utero that are otherwise difficult to determine. We tested the hypothesis that propensity for T. gondii to cause eye disease is associated with genes previously implicated in congenital or juvenile onset ocular disease. Using mother-child pairs from Europe (EMSCOT) and child/parent trios from North America (NCCCTS), we demonstrated that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4 previously associated with juvenile onset retinal dystrophies including Stargardt's disease. Polymorphisms at COL2A1 encoding type II collagen, previously associated with Stickler syndrome, associated only with ocular disease in congenital toxoplasmosis. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting, which provided an explanation for the patterns of inheritance observed. These genetic and epigenetic risk factors provide unique insight into molecular pathways in the pathogenesis of disease." @default.
• W2143011514 created "2016-06-24" @default.
• W2143011514 creator A5005303580 @default.
• W2143011514 creator A5057263992 @default.
• W2143011514 creator A5074203084 @default.
• W2143011514 creator A5076400884 @default.
• W2143011514 creator A5079782880 @default.
• W2143011514 creator A5082408868 @default.
• W2143011514 date "2009-03-01" @default.
• W2143011514 modified "2023-10-13" @default.
• W2143011514 title "Host genetic and epigenetic factors in toxoplasmosis" @default.
• W2143011514 cites W1525697941 @default.
• W2143011514 cites W1944558458 @default.
• W2143011514 cites W1973404243 @default.
• W2143011514 cites W1975087248 @default.
• W2143011514 cites W1978852996 @default.
• W2143011514 cites W1981147996 @default.
• W2143011514 cites W1991460649 @default.
• W2143011514 cites W1991876184 @default.
• W2143011514 cites W1992436751 @default.
• W2143011514 cites W1994664175 @default.
• W2143011514 cites W2002151971 @default.
• W2143011514 cites W2007770221 @default.
• W2143011514 cites W2011197968 @default.
• W2143011514 cites W2014077667 @default.
• W2143011514 cites W2015148400 @default.
• W2143011514 cites W2023073368 @default.
• W2143011514 cites W2025143098 @default.
• W2143011514 cites W2031916109 @default.
• W2143011514 cites W2035319065 @default.
• W2143011514 cites W2037545232 @default.
• W2143011514 cites W2040187354 @default.
• W2143011514 cites W2040946662 @default.
• W2143011514 cites W2041372618 @default.
• W2143011514 cites W2046579578 @default.
• W2143011514 cites W2047581698 @default.
• W2143011514 cites W2048785795 @default.
• W2143011514 cites W2049147602 @default.
• W2143011514 cites W2050598678 @default.
• W2143011514 cites W2055514573 @default.
• W2143011514 cites W2064588547 @default.
• W2143011514 cites W2065218625 @default.
• W2143011514 cites W2066592806 @default.
• W2143011514 cites W2071411739 @default.
• W2143011514 cites W2073527744 @default.
• W2143011514 cites W2076291553 @default.
• W2143011514 cites W2095224796 @default.
• W2143011514 cites W2095970568 @default.
• W2143011514 cites W2100443415 @default.
• W2143011514 cites W2108171492 @default.
• W2143011514 cites W2109718093 @default.
• W2143011514 cites W2110678911 @default.
• W2143011514 cites W2116908385 @default.
• W2143011514 cites W2120451046 @default.
• W2143011514 cites W2122296279 @default.
• W2143011514 cites W2128717682 @default.
• W2143011514 cites W2142073962 @default.
• W2143011514 cites W2149585871 @default.
• W2143011514 cites W2149791927 @default.
• W2143011514 cites W2156908740 @default.
• W2143011514 cites W2157562219 @default.
• W2143011514 cites W2160138207 @default.
• W2143011514 cites W2163012157 @default.
• W2143011514 cites W2163493873 @default.
• W2143011514 cites W2168272873 @default.
• W2143011514 cites W2172112282 @default.
• W2143011514 cites W4237377731 @default.
• W2143011514 doi "https://doi.org/10.1590/s0074-02762009000200006" @default.
• W2143011514 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2735098" @default.
• W2143011514 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/19430638" @default.
• W2143011514 hasPublicationYear "2009" @default.
• W2143011514 type Work @default.
• W2143011514 sameAs 2143011514 @default.
• W2143011514 citedByCount "26" @default.
• W2143011514 countsByYear W21430115142012 @default.
• W2143011514 countsByYear W21430115142013 @default.
• W2143011514 countsByYear W21430115142014 @default.
• W2143011514 countsByYear W21430115142015 @default.
• W2143011514 countsByYear W21430115142017 @default.
• W2143011514 countsByYear W21430115142018 @default.
• W2143011514 countsByYear W21430115142019 @default.
• W2143011514 countsByYear W21430115142020 @default.
• W2143011514 countsByYear W21430115142021 @default.
• W2143011514 countsByYear W21430115142022 @default.
• W2143011514 crossrefType "journal-article" @default.
• W2143011514 hasAuthorship W2143011514A5005303580 @default.
• W2143011514 hasAuthorship W2143011514A5057263992 @default.
• W2143011514 hasAuthorship W2143011514A5074203084 @default.
• W2143011514 hasAuthorship W2143011514A5076400884 @default.
• W2143011514 hasAuthorship W2143011514A5079782880 @default.
• W2143011514 hasAuthorship W2143011514A5082408868 @default.
• W2143011514 hasBestOaLocation W21430115141 @default.
• W2143011514 hasConcept C104317684 @default.
• W2143011514 hasConcept C127716648 @default.
• W2143011514 hasConcept C142724271 @default.
• W2143011514 hasConcept C159654299 @default.
• W2143011514 hasConcept C203014093 @default.
• W2143011514 hasConcept C2778062946 @default.

• next