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• W3215097231 endingPage "449" @default.
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• W3215097231 abstract "X-linked hypohidrotic dysplasia (XLHED), caused by mutations in the EDA gene, is a rare genetic disease that affects the development and function of the teeth, hair, nails, and sweat glands. The structural and functional consequences of caused by an ectodysplasin-A (EDA) mutations on protein phenotype, stability, and posttranslational modifications (PTMs) have not been well investigated. The present investigation involves five missense mutations that cause XLHED (L56P, R155C, P220L, V251M, and V322A) in different domains of EDA (TM, furin, collagen, and tumor necrosis factor [TNF]) from previously published papers. The deleterious nature of EDA mutant variants was identified using several computational algorithm tools. The point mutations induce major drifts in the structural flexibility of EDA mutant variants and have a negative impact on their stability, according to the 3D protein modeling tool assay. Using the molecular docking technique, EDA/EDA variants were docked to 10 EDA interacting partners, retrieved from the STRING database. We found a novel biomarker CD68 by molecular docking analysis, suggesting all five EDA variants had lower affinity for EDAR, EDA2R, and CD68, implying that they would affect embryonic signaling between the ectodermal and mesodermal cell layers. In silico research such as gene ontology, subcellular localization, protein-protein interaction, and PTMs investigations indicates major functional alterations would occur in EDA variants. According to molecular simulations, EDA variants influence the structural conformation, compactness, stiffness, and function of the EDA protein. Further studies on cell line and animal models might be useful in determining their specific roles in functional annotations." @default.
• W3215097231 created "2021-12-06" @default.
• W3215097231 creator A5017650842 @default.
• W3215097231 creator A5058252457 @default.
• W3215097231 date "2021-11-24" @default.
• W3215097231 modified "2023-09-24" @default.
• W3215097231 title "Understanding the impact of missense mutations on the structure and function of the <i> <b>EDA</b> </i> gene in X‐linked hypohidrotic ectodermal dysplasia: A bioinformatics approach" @default.
• W3215097231 cites W1525659758 @default.
• W3215097231 cites W1548753322 @default.
• W3215097231 cites W1602743992 @default.
• W3215097231 cites W1963605778 @default.
• W3215097231 cites W1966078827 @default.
• W3215097231 cites W1966141119 @default.
• W3215097231 cites W1966526845 @default.
• W3215097231 cites W1970413157 @default.
• W3215097231 cites W1970801772 @default.
• W3215097231 cites W1973897761 @default.
• W3215097231 cites W1975092906 @default.
• W3215097231 cites W2006798503 @default.
• W3215097231 cites W2007853906 @default.
• W3215097231 cites W2009356149 @default.
• W3215097231 cites W2009436896 @default.
• W3215097231 cites W2012072946 @default.
• W3215097231 cites W2012104865 @default.
• W3215097231 cites W2024405748 @default.
• W3215097231 cites W2027403413 @default.
• W3215097231 cites W2027457008 @default.
• W3215097231 cites W2034655166 @default.
• W3215097231 cites W2035112815 @default.
• W3215097231 cites W2044336345 @default.
• W3215097231 cites W2044740902 @default.
• W3215097231 cites W2050348484 @default.
• W3215097231 cites W2053785600 @default.
• W3215097231 cites W2064488723 @default.
• W3215097231 cites W2067435927 @default.
• W3215097231 cites W2067565253 @default.
• W3215097231 cites W2069033292 @default.
• W3215097231 cites W2069212047 @default.
• W3215097231 cites W2081694722 @default.
• W3215097231 cites W2089824387 @default.
• W3215097231 cites W2091764031 @default.
• W3215097231 cites W2095407221 @default.
• W3215097231 cites W2098639665 @default.
• W3215097231 cites W2098908786 @default.
• W3215097231 cites W2099564671 @default.
• W3215097231 cites W2103270369 @default.
• W3215097231 cites W2103459989 @default.
• W3215097231 cites W2104244040 @default.
• W3215097231 cites W2106010587 @default.
• W3215097231 cites W2106391842 @default.
• W3215097231 cites W2107150350 @default.
• W3215097231 cites W2107474918 @default.
• W3215097231 cites W2107769595 @default.
• W3215097231 cites W2107963890 @default.
• W3215097231 cites W2109372707 @default.
• W3215097231 cites W2114029728 @default.
• W3215097231 cites W2114986790 @default.
• W3215097231 cites W2120949690 @default.
• W3215097231 cites W2121293808 @default.
• W3215097231 cites W2121519777 @default.
• W3215097231 cites W2131193827 @default.
• W3215097231 cites W2132540199 @default.
• W3215097231 cites W2132752562 @default.
• W3215097231 cites W2134613228 @default.
• W3215097231 cites W2137163161 @default.
• W3215097231 cites W2142529984 @default.
• W3215097231 cites W2145786566 @default.
• W3215097231 cites W2149195137 @default.
• W3215097231 cites W2152469873 @default.
• W3215097231 cites W2153810573 @default.
• W3215097231 cites W2154019529 @default.
• W3215097231 cites W2160569176 @default.
• W3215097231 cites W2164004777 @default.
• W3215097231 cites W2164431424 @default.
• W3215097231 cites W2168621448 @default.
• W3215097231 cites W2169243280 @default.
• W3215097231 cites W2208895751 @default.
• W3215097231 cites W2266510186 @default.
• W3215097231 cites W2346699313 @default.
• W3215097231 cites W2401241322 @default.
• W3215097231 cites W2461183954 @default.
• W3215097231 cites W2512372054 @default.
• W3215097231 cites W2601092243 @default.
• W3215097231 cites W2612969216 @default.
• W3215097231 cites W2615841538 @default.
• W3215097231 cites W2806715961 @default.
• W3215097231 cites W2887673640 @default.
• W3215097231 cites W2899198963 @default.
• W3215097231 cites W2904476258 @default.
• W3215097231 cites W2967228308 @default.
• W3215097231 cites W3009754656 @default.
• W3215097231 cites W4244736178 @default.
• W3215097231 cites W50404321 @default.
• W3215097231 doi "https://doi.org/10.1002/jcb.30186" @default.
• W3215097231 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34817077" @default.
• W3215097231 hasPublicationYear "2021" @default.
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