FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2154201013> ?p ?o ?g. }

• W2154201013 endingPage "565" @default.
• W2154201013 startingPage "554" @default.
• W2154201013 abstract "Homozygous mutations in the fibroblast growth factor 3 ( FGF3 ) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 – LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous FGF3 mutations, p.Leu6Pro (c.17T>C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co‐segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with FGF3 mutations. However, similar venous anomalies were also detected in persons with non‐syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely." @default.
• W2154201013 created "2016-06-24" @default.
• W2154201013 creator A5002091567 @default.
• W2154201013 creator A5004601138 @default.
• W2154201013 creator A5017492653 @default.
• W2154201013 creator A5020652935 @default.
• W2154201013 creator A5024500388 @default.
• W2154201013 creator A5028927088 @default.
• W2154201013 creator A5034841666 @default.
• W2154201013 creator A5037148536 @default.
• W2154201013 creator A5041472055 @default.
• W2154201013 creator A5046510958 @default.
• W2154201013 creator A5053106769 @default.
• W2154201013 creator A5053831860 @default.
• W2154201013 creator A5065675612 @default.
• W2154201013 creator A5075112348 @default.
• W2154201013 creator A5083309060 @default.
• W2154201013 date "2008-05-07" @default.
• W2154201013 modified "2023-10-12" @default.
• W2154201013 title "Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia" @default.
• W2154201013 cites W1966800248 @default.
• W2154201013 cites W1973137389 @default.
• W2154201013 cites W1984585928 @default.
• W2154201013 cites W1987825393 @default.
• W2154201013 cites W1992354899 @default.
• W2154201013 cites W2007611241 @default.
• W2154201013 cites W2009683617 @default.
• W2154201013 cites W2019933810 @default.
• W2154201013 cites W2026178507 @default.
• W2154201013 cites W2029449984 @default.
• W2154201013 cites W2034534896 @default.
• W2154201013 cites W2042658053 @default.
• W2154201013 cites W2065763851 @default.
• W2154201013 cites W2072303535 @default.
• W2154201013 cites W2075500765 @default.
• W2154201013 cites W2079583639 @default.
• W2154201013 cites W2102033478 @default.
• W2154201013 cites W2107074734 @default.
• W2154201013 cites W2125750953 @default.
• W2154201013 cites W2159175125 @default.
• W2154201013 cites W2163931687 @default.
• W2154201013 cites W2337645172 @default.
• W2154201013 cites W4253003147 @default.
• W2154201013 cites W748860 @default.
• W2154201013 doi "https://doi.org/10.1111/j.1399-0004.2008.01004.x" @default.
• W2154201013 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/18435799" @default.
• W2154201013 hasPublicationYear "2008" @default.
• W2154201013 type Work @default.
• W2154201013 sameAs 2154201013 @default.
• W2154201013 citedByCount "48" @default.
• W2154201013 countsByYear W21542010132012 @default.
• W2154201013 countsByYear W21542010132013 @default.
• W2154201013 countsByYear W21542010132014 @default.
• W2154201013 countsByYear W21542010132015 @default.
• W2154201013 countsByYear W21542010132016 @default.
• W2154201013 countsByYear W21542010132017 @default.
• W2154201013 countsByYear W21542010132018 @default.
• W2154201013 countsByYear W21542010132019 @default.
• W2154201013 countsByYear W21542010132020 @default.
• W2154201013 countsByYear W21542010132021 @default.
• W2154201013 countsByYear W21542010132022 @default.
• W2154201013 countsByYear W21542010132023 @default.
• W2154201013 crossrefType "journal-article" @default.
• W2154201013 hasAuthorship W2154201013A5002091567 @default.
• W2154201013 hasAuthorship W2154201013A5004601138 @default.
• W2154201013 hasAuthorship W2154201013A5017492653 @default.
• W2154201013 hasAuthorship W2154201013A5020652935 @default.
• W2154201013 hasAuthorship W2154201013A5024500388 @default.
• W2154201013 hasAuthorship W2154201013A5028927088 @default.
• W2154201013 hasAuthorship W2154201013A5034841666 @default.
• W2154201013 hasAuthorship W2154201013A5037148536 @default.
• W2154201013 hasAuthorship W2154201013A5041472055 @default.
• W2154201013 hasAuthorship W2154201013A5046510958 @default.
• W2154201013 hasAuthorship W2154201013A5053106769 @default.
• W2154201013 hasAuthorship W2154201013A5053831860 @default.
• W2154201013 hasAuthorship W2154201013A5065675612 @default.
• W2154201013 hasAuthorship W2154201013A5075112348 @default.
• W2154201013 hasAuthorship W2154201013A5083309060 @default.
• W2154201013 hasConcept C104317684 @default.
• W2154201013 hasConcept C105702510 @default.
• W2154201013 hasConcept C188997412 @default.
• W2154201013 hasConcept C2776689041 @default.
• W2154201013 hasConcept C2777943302 @default.
• W2154201013 hasConcept C2778368355 @default.
• W2154201013 hasConcept C2779812711 @default.
• W2154201013 hasConcept C2780801906 @default.
• W2154201013 hasConcept C501734568 @default.
• W2154201013 hasConcept C54355233 @default.
• W2154201013 hasConcept C71924100 @default.
• W2154201013 hasConcept C86803240 @default.
• W2154201013 hasConceptScore W2154201013C104317684 @default.
• W2154201013 hasConceptScore W2154201013C105702510 @default.
• W2154201013 hasConceptScore W2154201013C188997412 @default.
• W2154201013 hasConceptScore W2154201013C2776689041 @default.
• W2154201013 hasConceptScore W2154201013C2777943302 @default.
• W2154201013 hasConceptScore W2154201013C2778368355 @default.
• W2154201013 hasConceptScore W2154201013C2779812711 @default.
• W2154201013 hasConceptScore W2154201013C2780801906 @default.

• next