Matches in SemOpenAlex for { <https://semopenalex.org/work/W4353081330> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W4353081330 abstract "Synpolydactyly (SPD) is caused by mutations in the transcription factor gene HOXD13. Such mutations include polyalanine expansion (PAE), but further study is required for the phenotypic spectrum characteristics of HOXD13 PAE. We investigated four unrelated Chinese families with significant limb malformations. Three PAEs were found in the HOXD13 polyalanine coding region: c.172_192dup (p.Ala58_Ala64dup) in Family 1, c.169_192dup (p.Ala57_Ala64dup) in Family 2, and c.183_210dup (p.Ala62_Ala70dup) in Family 3 and Family 4. Interestingly, we identified a new manifestation of preaxial polydactyly in both hands in a pediatric patient with an expansion of seven alanines, a phenotype not previously noted in SPD patients. Comparing with the wild-type cells and mutant cells with polyalanine contractions (PACs), the HOXD13 protein with a PAE of nine-alanine or more was difficult to enter the nucleus, and easy to form inclusion bodies in the cytoplasm, and with the increase of PAE, the more inclusion bodies were formed. This study not only expanded the phenotypic spectrum of SPD, but also enriched our understanding of its pathogenic mechanisms." @default.
- W4353081330 created "2023-03-23" @default.
- W4353081330 creator A5004366207 @default.
- W4353081330 creator A5013149449 @default.
- W4353081330 creator A5020468579 @default.
- W4353081330 creator A5033263569 @default.
- W4353081330 creator A5063068044 @default.
- W4353081330 creator A5079974007 @default.
- W4353081330 creator A5082079711 @default.
- W4353081330 date "2023-03-22" @default.
- W4353081330 modified "2023-10-16" @default.
- W4353081330 title "Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract" @default.
- W4353081330 cites W1964794638 @default.
- W4353081330 cites W1975523226 @default.
- W4353081330 cites W1987598556 @default.
- W4353081330 cites W1994338223 @default.
- W4353081330 cites W1997050251 @default.
- W4353081330 cites W2023324616 @default.
- W4353081330 cites W2023626145 @default.
- W4353081330 cites W2027295242 @default.
- W4353081330 cites W2094218780 @default.
- W4353081330 cites W2096151138 @default.
- W4353081330 cites W2102264829 @default.
- W4353081330 cites W2146713203 @default.
- W4353081330 cites W2164038181 @default.
- W4353081330 cites W2996789818 @default.
- W4353081330 cites W3156600411 @default.
- W4353081330 cites W3165653844 @default.
- W4353081330 cites W3193871166 @default.
- W4353081330 cites W3198266973 @default.
- W4353081330 cites W3210221301 @default.
- W4353081330 doi "https://doi.org/10.3389/fgene.2023.1105046" @default.
- W4353081330 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37035736" @default.
- W4353081330 hasPublicationYear "2023" @default.
- W4353081330 type Work @default.
- W4353081330 citedByCount "0" @default.
- W4353081330 crossrefType "journal-article" @default.
- W4353081330 hasAuthorship W4353081330A5004366207 @default.
- W4353081330 hasAuthorship W4353081330A5013149449 @default.
- W4353081330 hasAuthorship W4353081330A5020468579 @default.
- W4353081330 hasAuthorship W4353081330A5033263569 @default.
- W4353081330 hasAuthorship W4353081330A5063068044 @default.
- W4353081330 hasAuthorship W4353081330A5079974007 @default.
- W4353081330 hasAuthorship W4353081330A5082079711 @default.
- W4353081330 hasBestOaLocation W43530813301 @default.
- W4353081330 hasConcept C104317684 @default.
- W4353081330 hasConcept C127716648 @default.
- W4353081330 hasConcept C54355233 @default.
- W4353081330 hasConcept C86803240 @default.
- W4353081330 hasConceptScore W4353081330C104317684 @default.
- W4353081330 hasConceptScore W4353081330C127716648 @default.
- W4353081330 hasConceptScore W4353081330C54355233 @default.
- W4353081330 hasConceptScore W4353081330C86803240 @default.
- W4353081330 hasLocation W43530813301 @default.
- W4353081330 hasLocation W43530813302 @default.
- W4353081330 hasOpenAccess W4353081330 @default.
- W4353081330 hasPrimaryLocation W43530813301 @default.
- W4353081330 hasRelatedWork W138964897 @default.
- W4353081330 hasRelatedWork W1530402712 @default.
- W4353081330 hasRelatedWork W1946787458 @default.
- W4353081330 hasRelatedWork W2104622833 @default.
- W4353081330 hasRelatedWork W2143066563 @default.
- W4353081330 hasRelatedWork W2157166663 @default.
- W4353081330 hasRelatedWork W2276789630 @default.
- W4353081330 hasRelatedWork W2602253155 @default.
- W4353081330 hasRelatedWork W3032357680 @default.
- W4353081330 hasRelatedWork W3179054707 @default.
- W4353081330 hasVolume "14" @default.
- W4353081330 isParatext "false" @default.
- W4353081330 isRetracted "false" @default.
- W4353081330 workType "article" @default.