FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200423189> ?p ?o ?g. }

• W4200423189 abstract "Prenatal risk assessment of carriers of heterozygous X-linked deletion is a big challenge due to the phenotypic modification induced by X chromosome inactivation (XCI). Herein, we described four Chinese pedigrees with maternal-inherited X-deletions above 1 Mb. The pathogenic evaluation revealed that all X-deletions are harmful to heterozygous carriers; however, the asymptomatic pregnant female carriers in these families tremendously complicate the prognostic assessment of the unborn heterozygous embryos. In this study, we detected the XCI pattern of 11 female carriers of heterozygous X-linked deletions and 4 non-carrier females in these families and performed the first prenatal XCI pattern analysis in a fetal female carrier of heterozygous PCDH19-deletion to make risk prediction. In an adult female who lost one copy of the terminal of X chromosome short arm (Xp), a region enriching a large number of XCI escapees, the expression level of representative XCI escape genes was also detected. Pregnancy outcomes of all families were followed up or retrospected. Our research provides clinical evidence that X-deletions above 1 Mb are indeed associated with extremely skewed XCI. The favorable skewed XCI in combination with potential compensatory upregulation of XCI escapees would protect some but not all female carriers with pathogenic X-deletion from severe clinical consequences, mainly depending on the specific genetic contents involved in the deletion region. For PCDH19-disorder, the XCI pattern is considered as the decisive factor of phenotype expression, of which prenatal XCI assay using uncultured amniocytes could be a practicable way for risk prediction of this disease. These results provide valuable information about the usage of XCI assay in the prenatal risk assessment of heterozygous X-linked deletions." @default.
• W4200423189 created "2021-12-31" @default.
• W4200423189 creator A5037988282 @default.
• W4200423189 creator A5040097650 @default.
• W4200423189 creator A5048349862 @default.
• W4200423189 creator A5061073531 @default.
• W4200423189 creator A5068643523 @default.
• W4200423189 creator A5078466519 @default.
• W4200423189 date "2021-12-17" @default.
• W4200423189 modified "2023-10-17" @default.
• W4200423189 title "X Chromosome Inactivation Pattern and Pregnancy Outcome of Female Carriers of Pathogenic Heterozygous X-Linked Deletions" @default.
• W4200423189 cites W1500562977 @default.
• W4200423189 cites W1817811486 @default.
• W4200423189 cites W1886217042 @default.
• W4200423189 cites W1982818428 @default.
• W4200423189 cites W2000597658 @default.
• W4200423189 cites W2017135917 @default.
• W4200423189 cites W2029146706 @default.
• W4200423189 cites W2033067127 @default.
• W4200423189 cites W2042470924 @default.
• W4200423189 cites W2057175927 @default.
• W4200423189 cites W2067826825 @default.
• W4200423189 cites W2085710584 @default.
• W4200423189 cites W2107277218 @default.
• W4200423189 cites W2121143743 @default.
• W4200423189 cites W2128593997 @default.
• W4200423189 cites W2135645346 @default.
• W4200423189 cites W2163446284 @default.
• W4200423189 cites W2329047419 @default.
• W4200423189 cites W2462566570 @default.
• W4200423189 cites W2482038124 @default.
• W4200423189 cites W2508146464 @default.
• W4200423189 cites W2518799779 @default.
• W4200423189 cites W2521741120 @default.
• W4200423189 cites W2944484812 @default.
• W4200423189 cites W2945111226 @default.
• W4200423189 cites W2983742483 @default.
• W4200423189 cites W2990011524 @default.
• W4200423189 cites W3010151544 @default.
• W4200423189 cites W3119029538 @default.
• W4200423189 cites W3154601095 @default.
• W4200423189 cites W4236377502 @default.
• W4200423189 doi "https://doi.org/10.3389/fgene.2021.782629" @default.
• W4200423189 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34976017" @default.
• W4200423189 hasPublicationYear "2021" @default.
• W4200423189 type Work @default.
• W4200423189 citedByCount "4" @default.
• W4200423189 countsByYear W42004231892022 @default.
• W4200423189 countsByYear W42004231892023 @default.
• W4200423189 crossrefType "journal-article" @default.
• W4200423189 hasAuthorship W4200423189A5037988282 @default.
• W4200423189 hasAuthorship W4200423189A5040097650 @default.
• W4200423189 hasAuthorship W4200423189A5048349862 @default.
• W4200423189 hasAuthorship W4200423189A5061073531 @default.
• W4200423189 hasAuthorship W4200423189A5068643523 @default.
• W4200423189 hasAuthorship W4200423189A5078466519 @default.
• W4200423189 hasBestOaLocation W42004231891 @default.
• W4200423189 hasConcept C104317684 @default.
• W4200423189 hasConcept C110411900 @default.
• W4200423189 hasConcept C127716648 @default.
• W4200423189 hasConcept C153471976 @default.
• W4200423189 hasConcept C172680121 @default.
• W4200423189 hasConcept C180754005 @default.
• W4200423189 hasConcept C2590687 @default.
• W4200423189 hasConcept C2778258057 @default.
• W4200423189 hasConcept C2779234561 @default.
• W4200423189 hasConcept C35158069 @default.
• W4200423189 hasConcept C4323932 @default.
• W4200423189 hasConcept C54355233 @default.
• W4200423189 hasConcept C86803240 @default.
• W4200423189 hasConceptScore W4200423189C104317684 @default.
• W4200423189 hasConceptScore W4200423189C110411900 @default.
• W4200423189 hasConceptScore W4200423189C127716648 @default.
• W4200423189 hasConceptScore W4200423189C153471976 @default.
• W4200423189 hasConceptScore W4200423189C172680121 @default.
• W4200423189 hasConceptScore W4200423189C180754005 @default.
• W4200423189 hasConceptScore W4200423189C2590687 @default.
• W4200423189 hasConceptScore W4200423189C2778258057 @default.
• W4200423189 hasConceptScore W4200423189C2779234561 @default.
• W4200423189 hasConceptScore W4200423189C35158069 @default.
• W4200423189 hasConceptScore W4200423189C4323932 @default.
• W4200423189 hasConceptScore W4200423189C54355233 @default.
• W4200423189 hasConceptScore W4200423189C86803240 @default.
• W4200423189 hasLocation W42004231891 @default.
• W4200423189 hasLocation W42004231892 @default.
• W4200423189 hasLocation W42004231893 @default.
• W4200423189 hasLocation W42004231894 @default.
• W4200423189 hasOpenAccess W4200423189 @default.
• W4200423189 hasPrimaryLocation W42004231891 @default.
• W4200423189 hasRelatedWork W1973445288 @default.
• W4200423189 hasRelatedWork W1985658425 @default.
• W4200423189 hasRelatedWork W1999568515 @default.
• W4200423189 hasRelatedWork W2025462721 @default.
• W4200423189 hasRelatedWork W2058334774 @default.
• W4200423189 hasRelatedWork W2068815957 @default.
• W4200423189 hasRelatedWork W2093533550 @default.
• W4200423189 hasRelatedWork W2115930361 @default.
• W4200423189 hasRelatedWork W2276506583 @default.
• W4200423189 hasRelatedWork W2367207523 @default.
• W4200423189 hasVolume "12" @default.

• next