FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3132172815> ?p ?o ?g. }

• W3132172815 abstract "Abstract Background X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic variants of the gene EDA and defined by a triad of hypotrichosis, hypo- or anodontia, and hypo- or anhidrosis which may lead to life-threatening hyperthermia. Although female carriers are less severely affected than male patients, they display symptoms, too, with high phenotypic variability. This study aimed to elucidate whether phenotypic differences in female XLHED patients with identical EDA genotypes might be explained by deviating X-chromosome inactivation (XI) patterns. Methods Six families, each consisting of two sisters with the same EDA variant and their parents (with either mother or father being carrier of the variant), participated in this study. XLHED-related data like sweating ability, dental status, facial dysmorphism, and skin issues were assessed. We determined the women`s individual XI patterns in peripheral blood leukocytes by the human androgen receptor assay and collated the results with phenotypic features. Results The surprisingly large inter- and intrafamilial variability of symptoms in affected females was not explicable by the pathogenic variants. Our cohort showed no higher rate of nonrandom XI in peripheral blood leukocytes than the general female population. Furthermore, skewed XI patterns in favour of the mutated alleles were not associated with more severe phenotypes. Conclusions We found no evidence for preferential XI in female XLHED patients and no distinct correlation between XLHED-related phenotypic features and XI patterns. Phenotypic variability seems to be evoked by other genetic or epigenetic factors." @default.
• W3132172815 created "2021-03-01" @default.
• W3132172815 creator A5025923524 @default.
• W3132172815 creator A5033586516 @default.
• W3132172815 creator A5065355514 @default.
• W3132172815 creator A5086192519 @default.
• W3132172815 date "2021-02-23" @default.
• W3132172815 modified "2023-10-16" @default.
• W3132172815 title "No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia" @default.
• W3132172815 cites W1500562977 @default.
• W3132172815 cites W1509257525 @default.
• W3132172815 cites W1550890477 @default.
• W3132172815 cites W1822151872 @default.
• W3132172815 cites W1886217042 @default.
• W3132172815 cites W1966549958 @default.
• W3132172815 cites W1968018056 @default.
• W3132172815 cites W2014155178 @default.
• W3132172815 cites W2022579444 @default.
• W3132172815 cites W2028036482 @default.
• W3132172815 cites W2029146706 @default.
• W3132172815 cites W2033067127 @default.
• W3132172815 cites W2037435726 @default.
• W3132172815 cites W2039425105 @default.
• W3132172815 cites W2044382115 @default.
• W3132172815 cites W2046339736 @default.
• W3132172815 cites W2055304500 @default.
• W3132172815 cites W2056864248 @default.
• W3132172815 cites W2057175927 @default.
• W3132172815 cites W2065806062 @default.
• W3132172815 cites W2067435927 @default.
• W3132172815 cites W2076057241 @default.
• W3132172815 cites W2079959396 @default.
• W3132172815 cites W2081694722 @default.
• W3132172815 cites W2099819700 @default.
• W3132172815 cites W2117552780 @default.
• W3132172815 cites W2135629488 @default.
• W3132172815 cites W2152759531 @default.
• W3132172815 cites W2156981627 @default.
• W3132172815 cites W2300002878 @default.
• W3132172815 cites W2418556825 @default.
• W3132172815 cites W2430239247 @default.
• W3132172815 cites W2609605940 @default.
• W3132172815 cites W2759622436 @default.
• W3132172815 cites W2800246001 @default.
• W3132172815 cites W2905441841 @default.
• W3132172815 cites W2959584835 @default.
• W3132172815 cites W2992383927 @default.
• W3132172815 cites W4236377502 @default.
• W3132172815 cites W4239881281 @default.
• W3132172815 cites W4242239767 @default.
• W3132172815 doi "https://doi.org/10.1186/s13023-021-01735-2" @default.
• W3132172815 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7901220" @default.
• W3132172815 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33622384" @default.
• W3132172815 hasPublicationYear "2021" @default.
• W3132172815 type Work @default.
• W3132172815 sameAs 3132172815 @default.
• W3132172815 citedByCount "8" @default.
• W3132172815 countsByYear W31321728152021 @default.
• W3132172815 countsByYear W31321728152022 @default.
• W3132172815 countsByYear W31321728152023 @default.
• W3132172815 crossrefType "journal-article" @default.
• W3132172815 hasAuthorship W3132172815A5025923524 @default.
• W3132172815 hasAuthorship W3132172815A5033586516 @default.
• W3132172815 hasAuthorship W3132172815A5065355514 @default.
• W3132172815 hasAuthorship W3132172815A5086192519 @default.
• W3132172815 hasBestOaLocation W31321728151 @default.
• W3132172815 hasConcept C104317684 @default.
• W3132172815 hasConcept C127716648 @default.
• W3132172815 hasConcept C16005928 @default.
• W3132172815 hasConcept C180754005 @default.
• W3132172815 hasConcept C2777230673 @default.
• W3132172815 hasConcept C2777304866 @default.
• W3132172815 hasConcept C2778102086 @default.
• W3132172815 hasConcept C2779121489 @default.
• W3132172815 hasConcept C2779203496 @default.
• W3132172815 hasConcept C2908647359 @default.
• W3132172815 hasConcept C29694066 @default.
• W3132172815 hasConcept C35158069 @default.
• W3132172815 hasConcept C42407357 @default.
• W3132172815 hasConcept C4323932 @default.
• W3132172815 hasConcept C54355233 @default.
• W3132172815 hasConcept C71924100 @default.
• W3132172815 hasConcept C86803240 @default.
• W3132172815 hasConcept C99454951 @default.
• W3132172815 hasConceptScore W3132172815C104317684 @default.
• W3132172815 hasConceptScore W3132172815C127716648 @default.
• W3132172815 hasConceptScore W3132172815C16005928 @default.
• W3132172815 hasConceptScore W3132172815C180754005 @default.
• W3132172815 hasConceptScore W3132172815C2777230673 @default.
• W3132172815 hasConceptScore W3132172815C2777304866 @default.
• W3132172815 hasConceptScore W3132172815C2778102086 @default.
• W3132172815 hasConceptScore W3132172815C2779121489 @default.
• W3132172815 hasConceptScore W3132172815C2779203496 @default.
• W3132172815 hasConceptScore W3132172815C2908647359 @default.
• W3132172815 hasConceptScore W3132172815C29694066 @default.
• W3132172815 hasConceptScore W3132172815C35158069 @default.
• W3132172815 hasConceptScore W3132172815C42407357 @default.
• W3132172815 hasConceptScore W3132172815C4323932 @default.
• W3132172815 hasConceptScore W3132172815C54355233 @default.
• W3132172815 hasConceptScore W3132172815C71924100 @default.

• next