FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2055284447> ?p ?o ?g. }

• W2055284447 endingPage "242" @default.
• W2055284447 startingPage "234" @default.
• W2055284447 abstract "The traditional hypothesis concerning the pathogenesis of inner ear malformations holds that various types of malformations represent different stages of developmental arrest during embryogenesis. In order to verify this hypothesis, we surveyed mutations in the <i>SLC26A4</i><i>(PDS)</i> gene, which were documented to cause enlarged vestibular aqueduct (EVA) and Mondini’s dysplasia (incomplete partition of the cochlea), in 35 families with various types of inner ear malformations. In 25 families, the probands showed EVA or Mondini’s dysplasia as the main temporal bone abnormalities, whereas the probands in the remaining 10 families revealed other types of malformations. In total, 7 mutated <i>SLC26A4</i> alleles, including 6 missense mutations (A372V, A387V, T410M, S448L, T721M, and H723R) and 1 splice site mutation (IVS7-2A→G), were detected. All mutated alleles segregated the malformations of EVA and Mondini’s dysplasia, whereas no mutated alleles were found in the 10 probands with other types of malformations. <i>SLC26A4</i> mutations were found in 22 of the 25 probands with EVA or Mondini’s dysplasia, indicating that these might be specific to the development of Mondini’s dysplasia and EVA. It is inferred that the pathogenetic mechanisms of the various malformations essentially differ, although their radiological findings appear to follow a continuum of morphological changes." @default.
• W2055284447 created "2016-06-24" @default.
• W2055284447 creator A5016455628 @default.
• W2055284447 creator A5058253583 @default.
• W2055284447 creator A5084287787 @default.
• W2055284447 date "2005-01-01" @default.
• W2055284447 modified "2023-09-30" @default.
• W2055284447 title "Specificity of <i>SLC26A4</i> Mutations in the Pathogenesis of Inner Ear Malformations" @default.
• W2055284447 cites W1480384350 @default.
• W2055284447 cites W1973851239 @default.
• W2055284447 cites W1975670010 @default.
• W2055284447 cites W1996676008 @default.
• W2055284447 cites W2019462987 @default.
• W2055284447 cites W2023471002 @default.
• W2055284447 cites W2032184616 @default.
• W2055284447 cites W2041838113 @default.
• W2055284447 cites W2046962116 @default.
• W2055284447 cites W2047034952 @default.
• W2055284447 cites W2050572810 @default.
• W2055284447 cites W2065763851 @default.
• W2055284447 cites W2065804137 @default.
• W2055284447 cites W2065987736 @default.
• W2055284447 cites W2072490492 @default.
• W2055284447 cites W2072620398 @default.
• W2055284447 cites W2085595067 @default.
• W2055284447 cites W2089894969 @default.
• W2055284447 cites W2102418676 @default.
• W2055284447 cites W2105041673 @default.
• W2055284447 cites W2132306261 @default.
• W2055284447 cites W2135913971 @default.
• W2055284447 cites W2145283417 @default.
• W2055284447 cites W2148872965 @default.
• W2055284447 cites W2160874366 @default.
• W2055284447 cites W2166468982 @default.
• W2055284447 cites W2185791982 @default.
• W2055284447 cites W4231264898 @default.
• W2055284447 cites W4242469016 @default.
• W2055284447 doi "https://doi.org/10.1159/000085825" @default.
• W2055284447 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/15905611" @default.
• W2055284447 hasPublicationYear "2005" @default.
• W2055284447 type Work @default.
• W2055284447 sameAs 2055284447 @default.
• W2055284447 citedByCount "18" @default.
• W2055284447 countsByYear W20552844472012 @default.
• W2055284447 countsByYear W20552844472015 @default.
• W2055284447 countsByYear W20552844472019 @default.
• W2055284447 countsByYear W20552844472020 @default.
• W2055284447 countsByYear W20552844472021 @default.
• W2055284447 countsByYear W20552844472023 @default.
• W2055284447 crossrefType "journal-article" @default.
• W2055284447 hasAuthorship W2055284447A5016455628 @default.
• W2055284447 hasAuthorship W2055284447A5058253583 @default.
• W2055284447 hasAuthorship W2055284447A5084287787 @default.
• W2055284447 hasConcept C104317684 @default.
• W2055284447 hasConcept C105702510 @default.
• W2055284447 hasConcept C142724271 @default.
• W2055284447 hasConcept C188997412 @default.
• W2055284447 hasConcept C2775894508 @default.
• W2055284447 hasConcept C2776685072 @default.
• W2055284447 hasConcept C2778500370 @default.
• W2055284447 hasConcept C2780130748 @default.
• W2055284447 hasConcept C2780942790 @default.
• W2055284447 hasConcept C501734568 @default.
• W2055284447 hasConcept C54355233 @default.
• W2055284447 hasConcept C71924100 @default.
• W2055284447 hasConcept C75563809 @default.
• W2055284447 hasConcept C86803240 @default.
• W2055284447 hasConceptScore W2055284447C104317684 @default.
• W2055284447 hasConceptScore W2055284447C105702510 @default.
• W2055284447 hasConceptScore W2055284447C142724271 @default.
• W2055284447 hasConceptScore W2055284447C188997412 @default.
• W2055284447 hasConceptScore W2055284447C2775894508 @default.
• W2055284447 hasConceptScore W2055284447C2776685072 @default.
• W2055284447 hasConceptScore W2055284447C2778500370 @default.
• W2055284447 hasConceptScore W2055284447C2780130748 @default.
• W2055284447 hasConceptScore W2055284447C2780942790 @default.
• W2055284447 hasConceptScore W2055284447C501734568 @default.
• W2055284447 hasConceptScore W2055284447C54355233 @default.
• W2055284447 hasConceptScore W2055284447C71924100 @default.
• W2055284447 hasConceptScore W2055284447C75563809 @default.
• W2055284447 hasConceptScore W2055284447C86803240 @default.
• W2055284447 hasIssue "4" @default.
• W2055284447 hasLocation W20552844471 @default.
• W2055284447 hasLocation W20552844472 @default.
• W2055284447 hasOpenAccess W2055284447 @default.
• W2055284447 hasPrimaryLocation W20552844471 @default.
• W2055284447 hasRelatedWork W1992544883 @default.
• W2055284447 hasRelatedWork W2073260365 @default.
• W2055284447 hasRelatedWork W2349400098 @default.
• W2055284447 hasRelatedWork W2362650105 @default.
• W2055284447 hasRelatedWork W2409341427 @default.
• W2055284447 hasRelatedWork W2931132270 @default.
• W2055284447 hasRelatedWork W3024306633 @default.
• W2055284447 hasRelatedWork W3032164203 @default.
• W2055284447 hasRelatedWork W3037357169 @default.
• W2055284447 hasRelatedWork W80739611 @default.
• W2055284447 hasVolume "10" @default.
• W2055284447 isParatext "false" @default.

• next