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- W2892927507 abstract "Abstract Keratoconus is a progressive bilateral corneal protrusion that leads to irregular astigmatism and impairment of vision. Keratoconus is an etiologically heterogeneous corneal dystrophy and both environmental and genetic factors play a role in its etiopathogenesis. In this analytical review, we have studied all the genes that are structurally associated with keratoconus and have tried to explain the function of each gene and its association with other eye disorders in a concise way. In addition, using gene set enrichment analysis, it was attempted to find the most important impaired metabolic pathways in keratoconus. Several genetic studies have been carried out on keratoconus and several genes have been identified as risk factors involved in the etiology of the disease. In the current study, 16 studies, including nine association studies, five genome‐wide association studies, one linkage study, and one meta‐analysis, were reviewed and based on the 19 genes found, enrichment was performed and the most important metabolic pathways involved in the disease were identified. The enrichment results indicated that the two pathways, interleukin 1 processing and assembly of collagen fibrils, are significantly associated with the disease. Obviously, the results of this study, in addition to providing information about the genes involved in the disease, can provide an integrated insight into the gene‐based etiology of keratoconus and therapeutic opportunities thereof." @default.
- W2892927507 created "2018-10-05" @default.
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- W2892927507 creator A5057844949 @default.
- W2892927507 date "2018-09-27" @default.
- W2892927507 modified "2023-09-27" @default.
- W2892927507 title "An analytical enrichment‐based review of structural genetic studies on keratoconus" @default.
- W2892927507 cites W1572654736 @default.
- W2892927507 cites W1830177109 @default.
- W2892927507 cites W1875291351 @default.
- W2892927507 cites W1964057962 @default.
- W2892927507 cites W1967884767 @default.
- W2892927507 cites W1973118457 @default.
- W2892927507 cites W1975287140 @default.
- W2892927507 cites W1977734316 @default.
- W2892927507 cites W1979410673 @default.
- W2892927507 cites W1979991648 @default.
- W2892927507 cites W1980900150 @default.
- W2892927507 cites W1985578849 @default.
- W2892927507 cites W1986068161 @default.
- W2892927507 cites W1987471675 @default.
- W2892927507 cites W1992987620 @default.
- W2892927507 cites W1996964253 @default.
- W2892927507 cites W1997678141 @default.
- W2892927507 cites W2003634873 @default.
- W2892927507 cites W2007611486 @default.
- W2892927507 cites W2012949556 @default.
- W2892927507 cites W2015311268 @default.
- W2892927507 cites W2017529430 @default.
- W2892927507 cites W2021864751 @default.
- W2892927507 cites W2022133540 @default.
- W2892927507 cites W2023744385 @default.
- W2892927507 cites W2028133290 @default.
- W2892927507 cites W2034009074 @default.
- W2892927507 cites W2034531741 @default.
- W2892927507 cites W2041891841 @default.
- W2892927507 cites W2045017910 @default.
- W2892927507 cites W2050192820 @default.
- W2892927507 cites W2050682997 @default.
- W2892927507 cites W2056719159 @default.
- W2892927507 cites W2056796251 @default.
- W2892927507 cites W2059436289 @default.
- W2892927507 cites W2059841560 @default.
- W2892927507 cites W2061622036 @default.
- W2892927507 cites W2065424422 @default.
- W2892927507 cites W2067374493 @default.
- W2892927507 cites W2071076622 @default.
- W2892927507 cites W2072588235 @default.
- W2892927507 cites W2074506747 @default.
- W2892927507 cites W2078387059 @default.
- W2892927507 cites W2093992697 @default.
- W2892927507 cites W2104109524 @default.
- W2892927507 cites W2104246053 @default.
- W2892927507 cites W2106068908 @default.
- W2892927507 cites W2112192177 @default.
- W2892927507 cites W2113529261 @default.
- W2892927507 cites W2114260819 @default.
- W2892927507 cites W2119016772 @default.
- W2892927507 cites W2119283325 @default.
- W2892927507 cites W2124600315 @default.
- W2892927507 cites W2130410032 @default.
- W2892927507 cites W2135012836 @default.
- W2892927507 cites W2135094836 @default.
- W2892927507 cites W2137560155 @default.
- W2892927507 cites W2145093943 @default.
- W2892927507 cites W2145879946 @default.
- W2892927507 cites W2147786790 @default.
- W2892927507 cites W2151080688 @default.
- W2892927507 cites W2152579567 @default.
- W2892927507 cites W2161153914 @default.
- W2892927507 cites W2162257877 @default.
- W2892927507 cites W2163664843 @default.
- W2892927507 cites W2171006091 @default.
- W2892927507 cites W2171046365 @default.
- W2892927507 cites W2195922950 @default.
- W2892927507 cites W2226342936 @default.
- W2892927507 cites W2318358510 @default.
- W2892927507 cites W2346338156 @default.
- W2892927507 cites W2375242615 @default.
- W2892927507 cites W2543892837 @default.
- W2892927507 cites W2593089595 @default.
- W2892927507 cites W2611236787 @default.
- W2892927507 cites W2740976779 @default.
- W2892927507 cites W2763869285 @default.
- W2892927507 cites W2960105720 @default.
- W2892927507 cites W4234384950 @default.
- W2892927507 cites W4236233087 @default.
- W2892927507 cites W4245398344 @default.
- W2892927507 doi "https://doi.org/10.1002/jcb.27764" @default.
- W2892927507 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30260013" @default.
- W2892927507 hasPublicationYear "2018" @default.
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