FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4297152059> ?p ?o ?g. }

• W4297152059 endingPage "2300" @default.
• W4297152059 startingPage "2300" @default.
• W4297152059 abstract "The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants. The harmfulness of these variations was predicted by bioinformatics. Then, skewed X-chromosome inactivation (XCI) was measured by PCR analysis of the CAG repeat region in the human androgen receptor (AR) gene in peripheral blood cells. Two novel Ectodysplasin-A (EDA) heterozygous variants (c.588_606del19bp and c.837G>A) and one heterozygous variant (c.1045G>A, rs132630317) were identified in the three female XLHED patients. The bioinformatics analysis showed that these variants might be pathogenic. The tertiary structure analysis showed that these variants could cause structural damage to EDA proteins. Analysis of the skewed X-chromosome inactivation revealed that extreme skewed X-chromosome inactivation was found in patient #35 (98:2), whereas it was comparatively moderate in patients #347 and #204 (21:79 and 30:70). Our results broaden the variation spectrum of EDA and the phenotype spectrum of XLHED, which could help with clinical diagnosis, treatment, and genetic counseling." @default.
• W4297152059 created "2022-09-27" @default.
• W4297152059 creator A5023363049 @default.
• W4297152059 creator A5027231505 @default.
• W4297152059 creator A5033942966 @default.
• W4297152059 creator A5053076064 @default.
• W4297152059 creator A5061758665 @default.
• W4297152059 creator A5070500491 @default.
• W4297152059 creator A5076038276 @default.
• W4297152059 creator A5077923179 @default.
• W4297152059 date "2022-09-23" @default.
• W4297152059 modified "2023-09-25" @default.
• W4297152059 title "Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern" @default.
• W4297152059 cites W113984154 @default.
• W4297152059 cites W1509257525 @default.
• W4297152059 cites W1517710913 @default.
• W4297152059 cites W1965494857 @default.
• W4297152059 cites W1966549958 @default.
• W4297152059 cites W1972824053 @default.
• W4297152059 cites W1985567657 @default.
• W4297152059 cites W1997650783 @default.
• W4297152059 cites W2016547423 @default.
• W4297152059 cites W2018660197 @default.
• W4297152059 cites W2037435726 @default.
• W4297152059 cites W2051978340 @default.
• W4297152059 cites W2053101138 @default.
• W4297152059 cites W2056312220 @default.
• W4297152059 cites W2085811596 @default.
• W4297152059 cites W2089824387 @default.
• W4297152059 cites W2101278004 @default.
• W4297152059 cites W2109068951 @default.
• W4297152059 cites W2143911087 @default.
• W4297152059 cites W2152207030 @default.
• W4297152059 cites W2222035851 @default.
• W4297152059 cites W2758290500 @default.
• W4297152059 cites W2759622436 @default.
• W4297152059 cites W2806715961 @default.
• W4297152059 cites W2887397936 @default.
• W4297152059 cites W2945378369 @default.
• W4297152059 cites W2992383927 @default.
• W4297152059 cites W3132172815 @default.
• W4297152059 cites W3200247021 @default.
• W4297152059 cites W4251751280 @default.
• W4297152059 cites W4281384491 @default.
• W4297152059 doi "https://doi.org/10.3390/diagnostics12102300" @default.
• W4297152059 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36291989" @default.
• W4297152059 hasPublicationYear "2022" @default.
• W4297152059 type Work @default.
• W4297152059 citedByCount "0" @default.
• W4297152059 crossrefType "journal-article" @default.
• W4297152059 hasAuthorship W4297152059A5023363049 @default.
• W4297152059 hasAuthorship W4297152059A5027231505 @default.
• W4297152059 hasAuthorship W4297152059A5033942966 @default.
• W4297152059 hasAuthorship W4297152059A5053076064 @default.
• W4297152059 hasAuthorship W4297152059A5061758665 @default.
• W4297152059 hasAuthorship W4297152059A5070500491 @default.
• W4297152059 hasAuthorship W4297152059A5076038276 @default.
• W4297152059 hasAuthorship W4297152059A5077923179 @default.
• W4297152059 hasBestOaLocation W42971520591 @default.
• W4297152059 hasConcept C104317684 @default.
• W4297152059 hasConcept C120821319 @default.
• W4297152059 hasConcept C127716648 @default.
• W4297152059 hasConcept C141231307 @default.
• W4297152059 hasConcept C16671776 @default.
• W4297152059 hasConcept C2777230673 @default.
• W4297152059 hasConcept C30481170 @default.
• W4297152059 hasConcept C35158069 @default.
• W4297152059 hasConcept C4323932 @default.
• W4297152059 hasConcept C51679486 @default.
• W4297152059 hasConcept C54355233 @default.
• W4297152059 hasConcept C76818968 @default.
• W4297152059 hasConcept C86803240 @default.
• W4297152059 hasConceptScore W4297152059C104317684 @default.
• W4297152059 hasConceptScore W4297152059C120821319 @default.
• W4297152059 hasConceptScore W4297152059C127716648 @default.
• W4297152059 hasConceptScore W4297152059C141231307 @default.
• W4297152059 hasConceptScore W4297152059C16671776 @default.
• W4297152059 hasConceptScore W4297152059C2777230673 @default.
• W4297152059 hasConceptScore W4297152059C30481170 @default.
• W4297152059 hasConceptScore W4297152059C35158069 @default.
• W4297152059 hasConceptScore W4297152059C4323932 @default.
• W4297152059 hasConceptScore W4297152059C51679486 @default.
• W4297152059 hasConceptScore W4297152059C54355233 @default.
• W4297152059 hasConceptScore W4297152059C76818968 @default.
• W4297152059 hasConceptScore W4297152059C86803240 @default.
• W4297152059 hasFunder F4320321001 @default.
• W4297152059 hasIssue "10" @default.
• W4297152059 hasLocation W42971520591 @default.
• W4297152059 hasLocation W42971520592 @default.
• W4297152059 hasLocation W42971520593 @default.
• W4297152059 hasLocation W42971520594 @default.
• W4297152059 hasOpenAccess W4297152059 @default.
• W4297152059 hasPrimaryLocation W42971520591 @default.
• W4297152059 hasRelatedWork W1866648957 @default.
• W4297152059 hasRelatedWork W1980117883 @default.
• W4297152059 hasRelatedWork W1982093053 @default.
• W4297152059 hasRelatedWork W1987746977 @default.
• W4297152059 hasRelatedWork W2020958409 @default.

• next