Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891664314> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2891664314 abstract "Blepharophimosis syndrome (BPES) is characterized by eyelid malformation with occasional premature ovarian failure. Mutations in FOXL2 underlie a fraction of BPES cases.We aimed to investigate the genetic basis of BPES in 26 Chinese families that included 78 patients.We performed ophthalmological examinations on each family member. We used Sanger sequencing to screen FOXL2 exons and their flanking sequences. We also performed bioinformatics studies, structural modeling and pathogenicity evaluations on all identified variations. Literature was reviewed and genotype-phenotype correlation analysis was performed.The patients had typical manifestations of BPES. Ten mutations were identified in ten of the twenty-six families. Among these, seven were novel mutations. These included the six truncating mutations, p.Glu69*, p.Gly256Glyfs*14, p.Ala14Serfs*135, p.Pro333Profs*200, p.Pro290Leufs*70, and p.Pro157Profs*91, and one missense mutation, p.Tyr59Cys. The mutations were scattered within the gene, and no mutational hotspots were found. Genotype-phenotype correlation analysis showed that frameshift or nonsense mutations were correlated with type I BPES, while in-frame or missense mutations were associated with type II BPES.We report the largest BPES cohort in China thus far as well as seven novel mutations in FOXL2. The identification of novel mutations has not only expanded the mutational spectrum of the gene (which is valuable for mutation detection-based screening) but also suggests that most mutations within the Chinese population may not have been characterized yet." @default.
- W2891664314 created "2018-09-27" @default.
- W2891664314 creator A5000556383 @default.
- W2891664314 creator A5016119016 @default.
- W2891664314 creator A5019666836 @default.
- W2891664314 creator A5024873764 @default.
- W2891664314 creator A5026422416 @default.
- W2891664314 creator A5038529856 @default.
- W2891664314 creator A5041514574 @default.
- W2891664314 creator A5051730011 @default.
- W2891664314 creator A5065419788 @default.
- W2891664314 creator A5071414213 @default.
- W2891664314 creator A5077581291 @default.
- W2891664314 creator A5083138233 @default.
- W2891664314 date "2018-09-28" @default.
- W2891664314 modified "2023-10-18" @default.
- W2891664314 title "Seven Novel and Three Known Mutations in FOXL2 in 10 Chinese Families with Blepharophimosis Syndrome" @default.
- W2891664314 doi "https://doi.org/10.2174/1566524018666180907162619" @default.
- W2891664314 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30198434" @default.
- W2891664314 hasPublicationYear "2018" @default.
- W2891664314 type Work @default.
- W2891664314 sameAs 2891664314 @default.
- W2891664314 citedByCount "3" @default.
- W2891664314 countsByYear W28916643142020 @default.
- W2891664314 countsByYear W28916643142022 @default.
- W2891664314 crossrefType "journal-article" @default.
- W2891664314 hasAuthorship W2891664314A5000556383 @default.
- W2891664314 hasAuthorship W2891664314A5016119016 @default.
- W2891664314 hasAuthorship W2891664314A5019666836 @default.
- W2891664314 hasAuthorship W2891664314A5024873764 @default.
- W2891664314 hasAuthorship W2891664314A5026422416 @default.
- W2891664314 hasAuthorship W2891664314A5038529856 @default.
- W2891664314 hasAuthorship W2891664314A5041514574 @default.
- W2891664314 hasAuthorship W2891664314A5051730011 @default.
- W2891664314 hasAuthorship W2891664314A5065419788 @default.
- W2891664314 hasAuthorship W2891664314A5071414213 @default.
- W2891664314 hasAuthorship W2891664314A5077581291 @default.
- W2891664314 hasAuthorship W2891664314A5083138233 @default.
- W2891664314 hasConcept C104317684 @default.
- W2891664314 hasConcept C127716648 @default.
- W2891664314 hasConcept C134018914 @default.
- W2891664314 hasConcept C163565370 @default.
- W2891664314 hasConcept C2777395788 @default.
- W2891664314 hasConcept C2777821979 @default.
- W2891664314 hasConcept C2781194658 @default.
- W2891664314 hasConcept C29906990 @default.
- W2891664314 hasConcept C36823959 @default.
- W2891664314 hasConcept C501734568 @default.
- W2891664314 hasConcept C54355233 @default.
- W2891664314 hasConcept C62923972 @default.
- W2891664314 hasConcept C75563809 @default.
- W2891664314 hasConcept C76818968 @default.
- W2891664314 hasConcept C86803240 @default.
- W2891664314 hasConcept C96777560 @default.
- W2891664314 hasConcept C98274493 @default.
- W2891664314 hasConceptScore W2891664314C104317684 @default.
- W2891664314 hasConceptScore W2891664314C127716648 @default.
- W2891664314 hasConceptScore W2891664314C134018914 @default.
- W2891664314 hasConceptScore W2891664314C163565370 @default.
- W2891664314 hasConceptScore W2891664314C2777395788 @default.
- W2891664314 hasConceptScore W2891664314C2777821979 @default.
- W2891664314 hasConceptScore W2891664314C2781194658 @default.
- W2891664314 hasConceptScore W2891664314C29906990 @default.
- W2891664314 hasConceptScore W2891664314C36823959 @default.
- W2891664314 hasConceptScore W2891664314C501734568 @default.
- W2891664314 hasConceptScore W2891664314C54355233 @default.
- W2891664314 hasConceptScore W2891664314C62923972 @default.
- W2891664314 hasConceptScore W2891664314C75563809 @default.
- W2891664314 hasConceptScore W2891664314C76818968 @default.
- W2891664314 hasConceptScore W2891664314C86803240 @default.
- W2891664314 hasConceptScore W2891664314C96777560 @default.
- W2891664314 hasConceptScore W2891664314C98274493 @default.
- W2891664314 hasLocation W28916643141 @default.
- W2891664314 hasLocation W28916643142 @default.
- W2891664314 hasOpenAccess W2891664314 @default.
- W2891664314 hasPrimaryLocation W28916643141 @default.
- W2891664314 hasRelatedWork W1540914548 @default.
- W2891664314 hasRelatedWork W1967434184 @default.
- W2891664314 hasRelatedWork W1971086537 @default.
- W2891664314 hasRelatedWork W1971499146 @default.
- W2891664314 hasRelatedWork W1978395865 @default.
- W2891664314 hasRelatedWork W1979176079 @default.
- W2891664314 hasRelatedWork W2329070144 @default.
- W2891664314 hasRelatedWork W2462870855 @default.
- W2891664314 hasRelatedWork W2980974183 @default.
- W2891664314 hasRelatedWork W3155541108 @default.
- W2891664314 isParatext "false" @default.
- W2891664314 isRetracted "false" @default.
- W2891664314 magId "2891664314" @default.
- W2891664314 workType "article" @default.