Matches in SemOpenAlex for { <https://semopenalex.org/work/W4200602550> ?p ?o ?g. }
- W4200602550 abstract "Background: Expressed by endothelial cells, CDH5 is a cadherin involved in vascular morphogenesis and in the maintenance of vascular integrity and lymphatic function. The main purpose of our study was to identify distinct variants of the CDH5 gene that could be associated with lymphatic malformations and predisposition for lymphedema. Methods and Results: We performed Next Generation Sequencing of the CDH5 gene in 235 Italian patients diagnosed with lymphedema but who tested negative for variants in known lymphedema genes. We detected six different variants in CDH5 five missense and one nonsense. We also tested available family members of the probands. For family members who carried the same variant as the proband, we performed lymphoscintigraphy to detect any lymphatic system abnormalities. Variants were modeled in silico. The results showed that CDH5 variants may contribute to the onset of lymphedema, although further in vitro studies are needed to confirm this hypothesis. Conclusions: Based on our findings, we propose CDH5 as a new gene that could be screened in patients with lymphedema to gather additional evidence." @default.
- W4200602550 created "2021-12-31" @default.
- W4200602550 creator A5003724849 @default.
- W4200602550 creator A5004535205 @default.
- W4200602550 creator A5014922756 @default.
- W4200602550 creator A5019883507 @default.
- W4200602550 creator A5023347140 @default.
- W4200602550 creator A5027068389 @default.
- W4200602550 creator A5029711961 @default.
- W4200602550 creator A5032379579 @default.
- W4200602550 creator A5032467332 @default.
- W4200602550 creator A5033016474 @default.
- W4200602550 creator A5042254826 @default.
- W4200602550 creator A5045120276 @default.
- W4200602550 creator A5051691254 @default.
- W4200602550 creator A5052487903 @default.
- W4200602550 creator A5056272438 @default.
- W4200602550 creator A5060555074 @default.
- W4200602550 creator A5067158499 @default.
- W4200602550 date "2021-12-08" @default.
- W4200602550 modified "2023-10-03" @default.
- W4200602550 title "CDH5, a Possible New Candidate Gene for Genetic Testing of Lymphedema" @default.
- W4200602550 cites W160981812 @default.
- W4200602550 cites W168215241 @default.
- W4200602550 cites W1915521129 @default.
- W4200602550 cites W1970413157 @default.
- W4200602550 cites W1983614886 @default.
- W4200602550 cites W2005817040 @default.
- W4200602550 cites W2022124977 @default.
- W4200602550 cites W2050333027 @default.
- W4200602550 cites W2050959645 @default.
- W4200602550 cites W2051210555 @default.
- W4200602550 cites W2051978340 @default.
- W4200602550 cites W2061650392 @default.
- W4200602550 cites W2075131851 @default.
- W4200602550 cites W2105951972 @default.
- W4200602550 cites W2129434797 @default.
- W4200602550 cites W2130479394 @default.
- W4200602550 cites W2142678478 @default.
- W4200602550 cites W2147176626 @default.
- W4200602550 cites W2154228322 @default.
- W4200602550 cites W2154951099 @default.
- W4200602550 cites W2157204277 @default.
- W4200602550 cites W2159614853 @default.
- W4200602550 cites W2161020445 @default.
- W4200602550 cites W2164257043 @default.
- W4200602550 cites W2190979306 @default.
- W4200602550 cites W2417483443 @default.
- W4200602550 cites W2622849565 @default.
- W4200602550 cites W2734552616 @default.
- W4200602550 cites W2737890761 @default.
- W4200602550 cites W2785808990 @default.
- W4200602550 cites W2804822363 @default.
- W4200602550 cites W2897748929 @default.
- W4200602550 cites W2903035331 @default.
- W4200602550 cites W2949857618 @default.
- W4200602550 cites W2952584125 @default.
- W4200602550 cites W2970399138 @default.
- W4200602550 cites W3011150630 @default.
- W4200602550 cites W3029661147 @default.
- W4200602550 cites W3044089250 @default.
- W4200602550 doi "https://doi.org/10.1089/lrb.2020.0089" @default.
- W4200602550 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34882481" @default.
- W4200602550 hasPublicationYear "2021" @default.
- W4200602550 type Work @default.
- W4200602550 citedByCount "2" @default.
- W4200602550 countsByYear W42006025502022 @default.
- W4200602550 crossrefType "journal-article" @default.
- W4200602550 hasAuthorship W4200602550A5003724849 @default.
- W4200602550 hasAuthorship W4200602550A5004535205 @default.
- W4200602550 hasAuthorship W4200602550A5014922756 @default.
- W4200602550 hasAuthorship W4200602550A5019883507 @default.
- W4200602550 hasAuthorship W4200602550A5023347140 @default.
- W4200602550 hasAuthorship W4200602550A5027068389 @default.
- W4200602550 hasAuthorship W4200602550A5029711961 @default.
- W4200602550 hasAuthorship W4200602550A5032379579 @default.
- W4200602550 hasAuthorship W4200602550A5032467332 @default.
- W4200602550 hasAuthorship W4200602550A5033016474 @default.
- W4200602550 hasAuthorship W4200602550A5042254826 @default.
- W4200602550 hasAuthorship W4200602550A5045120276 @default.
- W4200602550 hasAuthorship W4200602550A5051691254 @default.
- W4200602550 hasAuthorship W4200602550A5052487903 @default.
- W4200602550 hasAuthorship W4200602550A5056272438 @default.
- W4200602550 hasAuthorship W4200602550A5060555074 @default.
- W4200602550 hasAuthorship W4200602550A5067158499 @default.
- W4200602550 hasBestOaLocation W42006025502 @default.
- W4200602550 hasConcept C104317684 @default.
- W4200602550 hasConcept C121608353 @default.
- W4200602550 hasConcept C127716648 @default.
- W4200602550 hasConcept C188997412 @default.
- W4200602550 hasConcept C2781392513 @default.
- W4200602550 hasConcept C501734568 @default.
- W4200602550 hasConcept C530470458 @default.
- W4200602550 hasConcept C54355233 @default.
- W4200602550 hasConcept C71924100 @default.
- W4200602550 hasConcept C75563809 @default.
- W4200602550 hasConcept C86803240 @default.
- W4200602550 hasConceptScore W4200602550C104317684 @default.
- W4200602550 hasConceptScore W4200602550C121608353 @default.
- W4200602550 hasConceptScore W4200602550C127716648 @default.