FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2027865411> ?p ?o ?g. }

• W2027865411 endingPage "85" @default.
• W2027865411 startingPage "79" @default.
• W2027865411 abstract "Congenital primary hypothyroidism (CH) is a rare pediatric disorder estimated to occur in about 1:2,500 live births. Approximately half of these cases entail ectopic thyroid tissue, which is believed to result from a migration defect during embryogenesis. Approximately 3% of CH cases are explained by mutation(s) in known genes, most of which are transcription factors implicated in the embryology of the thyroid gland. Surprisingly, monozygotic (MZ) twins are usually discordant for CH due to thyroid dysgenesis, suggesting that most cases are not caused by transmitted genetic variation. One possible explanation is somatic mutation in genes involved in thyroid migration occurring after zygotic twinning. Such mutations should be observed only in the affected twin.To test the hypothesis of somatic mutation, we performed whole exome sequencing of DNA from three pairs of MZ twins discordant for CH with ectopic glands.We found no somatic mutations exclusive to any of the three affected twins or in any of the unaffected twins.Either somatic mutations are not significant for the etiology of CH or else such mutations lie outside regions of the genome accessible by exome sequencing technology." @default.
• W2027865411 created "2016-06-24" @default.
• W2027865411 creator A5022307828 @default.
• W2027865411 creator A5040157283 @default.
• W2027865411 creator A5060678349 @default.
• W2027865411 creator A5081788612 @default.
• W2027865411 creator A5082660547 @default.
• W2027865411 date "2014-09-23" @default.
• W2027865411 modified "2023-09-27" @default.
• W2027865411 title "Somatic Mutations Are Not Observed by Exome Sequencing of Lymphocyte DNA from Monozygotic Twins Discordant for Congenital Hypothyroidism due to Thyroid Dysgenesis" @default.
• W2027865411 cites W1530079397 @default.
• W2027865411 cites W1968550886 @default.
• W2027865411 cites W1974825591 @default.
• W2027865411 cites W1980069581 @default.
• W2027865411 cites W2001036195 @default.
• W2027865411 cites W2018655601 @default.
• W2027865411 cites W2037711790 @default.
• W2027865411 cites W2038331594 @default.
• W2027865411 cites W2055363405 @default.
• W2027865411 cites W2055553707 @default.
• W2027865411 cites W2068853666 @default.
• W2027865411 cites W2069738697 @default.
• W2027865411 cites W2081808783 @default.
• W2027865411 cites W2094312655 @default.
• W2027865411 cites W2104774704 @default.
• W2027865411 cites W2119180969 @default.
• W2027865411 cites W2134555277 @default.
• W2027865411 cites W2147152088 @default.
• W2027865411 cites W2150669582 @default.
• W2027865411 cites W2151094911 @default.
• W2027865411 cites W2155645460 @default.
• W2027865411 cites W2156168752 @default.
• W2027865411 cites W2161021796 @default.
• W2027865411 cites W4243703753 @default.
• W2027865411 doi "https://doi.org/10.1159/000365393" @default.
• W2027865411 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5050031" @default.
• W2027865411 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25277881" @default.
• W2027865411 hasPublicationYear "2014" @default.
• W2027865411 type Work @default.
• W2027865411 sameAs 2027865411 @default.
• W2027865411 citedByCount "31" @default.
• W2027865411 countsByYear W20278654112014 @default.
• W2027865411 countsByYear W20278654112015 @default.
• W2027865411 countsByYear W20278654112016 @default.
• W2027865411 countsByYear W20278654112017 @default.
• W2027865411 countsByYear W20278654112018 @default.
• W2027865411 countsByYear W20278654112019 @default.
• W2027865411 countsByYear W20278654112020 @default.
• W2027865411 countsByYear W20278654112021 @default.
• W2027865411 countsByYear W20278654112022 @default.
• W2027865411 crossrefType "journal-article" @default.
• W2027865411 hasAuthorship W2027865411A5022307828 @default.
• W2027865411 hasAuthorship W2027865411A5040157283 @default.
• W2027865411 hasAuthorship W2027865411A5060678349 @default.
• W2027865411 hasAuthorship W2027865411A5081788612 @default.
• W2027865411 hasAuthorship W2027865411A5082660547 @default.
• W2027865411 hasBestOaLocation W20278654111 @default.
• W2027865411 hasConcept C104317684 @default.
• W2027865411 hasConcept C10590036 @default.
• W2027865411 hasConcept C109825262 @default.
• W2027865411 hasConcept C134018914 @default.
• W2027865411 hasConcept C134305767 @default.
• W2027865411 hasConcept C13514818 @default.
• W2027865411 hasConcept C16671776 @default.
• W2027865411 hasConcept C2778324535 @default.
• W2027865411 hasConcept C2779258352 @default.
• W2027865411 hasConcept C2908839706 @default.
• W2027865411 hasConcept C3017743773 @default.
• W2027865411 hasConcept C48720390 @default.
• W2027865411 hasConcept C501734568 @default.
• W2027865411 hasConcept C526584372 @default.
• W2027865411 hasConcept C54355233 @default.
• W2027865411 hasConcept C86803240 @default.
• W2027865411 hasConceptScore W2027865411C104317684 @default.
• W2027865411 hasConceptScore W2027865411C10590036 @default.
• W2027865411 hasConceptScore W2027865411C109825262 @default.
• W2027865411 hasConceptScore W2027865411C134018914 @default.
• W2027865411 hasConceptScore W2027865411C134305767 @default.
• W2027865411 hasConceptScore W2027865411C13514818 @default.
• W2027865411 hasConceptScore W2027865411C16671776 @default.
• W2027865411 hasConceptScore W2027865411C2778324535 @default.
• W2027865411 hasConceptScore W2027865411C2779258352 @default.
• W2027865411 hasConceptScore W2027865411C2908839706 @default.
• W2027865411 hasConceptScore W2027865411C3017743773 @default.
• W2027865411 hasConceptScore W2027865411C48720390 @default.
• W2027865411 hasConceptScore W2027865411C501734568 @default.
• W2027865411 hasConceptScore W2027865411C526584372 @default.
• W2027865411 hasConceptScore W2027865411C54355233 @default.
• W2027865411 hasConceptScore W2027865411C86803240 @default.
• W2027865411 hasIssue "2" @default.
• W2027865411 hasLocation W20278654111 @default.
• W2027865411 hasLocation W20278654112 @default.
• W2027865411 hasLocation W20278654113 @default.
• W2027865411 hasLocation W20278654114 @default.
• W2027865411 hasOpenAccess W2027865411 @default.
• W2027865411 hasPrimaryLocation W20278654111 @default.
• W2027865411 hasRelatedWork W1480540175 @default.
• W2027865411 hasRelatedWork W1489089338 @default.

• next