Matches in SemOpenAlex for { <https://semopenalex.org/work/W4322742616> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W4322742616 endingPage "442" @default.
- W4322742616 startingPage "442" @default.
- W4322742616 abstract "Congenital aniridia is a rare autosomal dominant congenital ocular disorder. Genetic studies suggest that heterozygous mutations in the developmental regulator PAX6 gene or the related regulatory regions leading to haploinsufficiency are the main cause of congenital aniridia. In this study, the clinical characteristics and pathogenic mutation of a four-generation Chinese family with congenital aniridia were investigated. All members recruited in this study underwent comprehensive ophthalmic examinations. Targeted gene capture sequencing and Sanger sequencing were performed to screen and confirm the candidate pathogenicity gene and its mutation. A multiple alignment of homologous sequences covering the identified mutation from different species was investigated, and the mutant protein structure was predicted using Swiss-Model. Additionally, the prediction of pathogenicity was analyzed using the ACMG Guidelines. Thirteen patients in this pedigree were diagnosed with congenital aniridia. A novel heterozygous frameshift mutation (c.391_398dupATACCAAG, p.Ser133Argfs*8) in exon 7 of the PAX6 gene was identified in all affected individuals in the family. This study demonstrates that this frameshift mutation of the PAX6 gene might be the causative genetic defect of congenital aniridia in this family. This mutation is predicted to cause the premature truncation of the PAX6 protein, leading to the functional haploinsufficiency of PAX6, which may be the major molecular mechanism underlying the aniridia phenotype. To the best of our knowledge, this is the first report of a novel pathogenic PAX6 gene variant c.391_398dupATACCAAG(p.Ser133Argfs*8) identified in a Chinese family with congenital aniridia." @default.
- W4322742616 created "2023-03-03" @default.
- W4322742616 creator A5009903179 @default.
- W4322742616 creator A5012325436 @default.
- W4322742616 creator A5028403326 @default.
- W4322742616 creator A5035676414 @default.
- W4322742616 creator A5037361773 @default.
- W4322742616 creator A5038647128 @default.
- W4322742616 creator A5049723397 @default.
- W4322742616 creator A5053481537 @default.
- W4322742616 date "2023-02-28" @default.
- W4322742616 modified "2023-09-27" @default.
- W4322742616 title "A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia" @default.
- W4322742616 cites W1967978971 @default.
- W4322742616 cites W1971596285 @default.
- W4322742616 cites W1979451137 @default.
- W4322742616 cites W2015615191 @default.
- W4322742616 cites W2033690523 @default.
- W4322742616 cites W2078382445 @default.
- W4322742616 cites W2118200955 @default.
- W4322742616 cites W2129434797 @default.
- W4322742616 cites W2149525061 @default.
- W4322742616 cites W2152301430 @default.
- W4322742616 cites W2154040587 @default.
- W4322742616 cites W2170890770 @default.
- W4322742616 cites W2507956816 @default.
- W4322742616 cites W2895425422 @default.
- W4322742616 cites W2948514320 @default.
- W4322742616 cites W2978580960 @default.
- W4322742616 cites W2986291016 @default.
- W4322742616 cites W3024254218 @default.
- W4322742616 cites W3024830500 @default.
- W4322742616 cites W3108579746 @default.
- W4322742616 cites W3111351675 @default.
- W4322742616 cites W3166728033 @default.
- W4322742616 cites W3176331003 @default.
- W4322742616 cites W4238368202 @default.
- W4322742616 doi "https://doi.org/10.3390/jpm13030442" @default.
- W4322742616 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36983625" @default.
- W4322742616 hasPublicationYear "2023" @default.
- W4322742616 type Work @default.
- W4322742616 citedByCount "0" @default.
- W4322742616 crossrefType "journal-article" @default.
- W4322742616 hasAuthorship W4322742616A5009903179 @default.
- W4322742616 hasAuthorship W4322742616A5012325436 @default.
- W4322742616 hasAuthorship W4322742616A5028403326 @default.
- W4322742616 hasAuthorship W4322742616A5035676414 @default.
- W4322742616 hasAuthorship W4322742616A5037361773 @default.
- W4322742616 hasAuthorship W4322742616A5038647128 @default.
- W4322742616 hasAuthorship W4322742616A5049723397 @default.
- W4322742616 hasAuthorship W4322742616A5053481537 @default.
- W4322742616 hasBestOaLocation W43227426161 @default.
- W4322742616 hasConcept C104317684 @default.
- W4322742616 hasConcept C127716648 @default.
- W4322742616 hasConcept C2776608714 @default.
- W4322742616 hasConcept C29906990 @default.
- W4322742616 hasConcept C501734568 @default.
- W4322742616 hasConcept C51816534 @default.
- W4322742616 hasConcept C54355233 @default.
- W4322742616 hasConcept C68838962 @default.
- W4322742616 hasConcept C69991583 @default.
- W4322742616 hasConcept C76818968 @default.
- W4322742616 hasConcept C86339819 @default.
- W4322742616 hasConcept C86803240 @default.
- W4322742616 hasConceptScore W4322742616C104317684 @default.
- W4322742616 hasConceptScore W4322742616C127716648 @default.
- W4322742616 hasConceptScore W4322742616C2776608714 @default.
- W4322742616 hasConceptScore W4322742616C29906990 @default.
- W4322742616 hasConceptScore W4322742616C501734568 @default.
- W4322742616 hasConceptScore W4322742616C51816534 @default.
- W4322742616 hasConceptScore W4322742616C54355233 @default.
- W4322742616 hasConceptScore W4322742616C68838962 @default.
- W4322742616 hasConceptScore W4322742616C69991583 @default.
- W4322742616 hasConceptScore W4322742616C76818968 @default.
- W4322742616 hasConceptScore W4322742616C86339819 @default.
- W4322742616 hasConceptScore W4322742616C86803240 @default.
- W4322742616 hasFunder F4320321001 @default.
- W4322742616 hasIssue "3" @default.
- W4322742616 hasLocation W43227426161 @default.
- W4322742616 hasLocation W43227426162 @default.
- W4322742616 hasLocation W43227426163 @default.
- W4322742616 hasOpenAccess W4322742616 @default.
- W4322742616 hasPrimaryLocation W43227426161 @default.
- W4322742616 hasRelatedWork W1507901487 @default.
- W4322742616 hasRelatedWork W1985957476 @default.
- W4322742616 hasRelatedWork W1992110834 @default.
- W4322742616 hasRelatedWork W2029415604 @default.
- W4322742616 hasRelatedWork W2074650260 @default.
- W4322742616 hasRelatedWork W2124930687 @default.
- W4322742616 hasRelatedWork W2750457413 @default.
- W4322742616 hasRelatedWork W2771715102 @default.
- W4322742616 hasRelatedWork W3025064618 @default.
- W4322742616 hasRelatedWork W4322742616 @default.
- W4322742616 hasVolume "13" @default.
- W4322742616 isParatext "false" @default.
- W4322742616 isRetracted "false" @default.
- W4322742616 workType "article" @default.