Matches in SemOpenAlex for { <https://semopenalex.org/work/W3128651340> ?p ?o ?g. }
- W3128651340 endingPage "131" @default.
- W3128651340 startingPage "114" @default.
- W3128651340 abstract "Keratoconus is a progressive thinning, steepening and distortion of the cornea which can lead to loss of vision if left untreated. Keratoconus has a complex multifactorial etiology, with genetic and environmental components contributing to the disease pathophysiology. Studies have observed high concordance between monozygotic twins, discordance between dizygotic twins, and high familial segregation indicating the presence of a very strong genetic component in the pathogenesis of keratoconus. The use of genome-wide linkage studies on families and twins, genome-wide association studies (GWAS) on case-controls, next-generation sequencing (NGS)-based genomic screens on both familial and non-familial cohorts have led to the identification of keratoconus candidate genes with much greater success and increased resproducibility of genetic findings. This review focuses on candidate genes identified till date and attempts to understand their role in biological processes underlying keratoconus pathogenesis. In addition, using these genes I propose molecular pathways that could contribute to keratoconus pathogenesis. The pathways identified the presence of direct cross-talk between known candidate genes of keratoconus and remarkably, 28 known candidate genes have a direct relationship among themselves that involves direct protein-protein binding, regulatory activities such as activation and inhibition, chaperone, transcriptional activation/co-activation, and enzyme catalysis. This review attempts to describe these relationships and cross-talks in the context of keratoconus pathogenesis." @default.
- W3128651340 created "2021-02-15" @default.
- W3128651340 creator A5027438092 @default.
- W3128651340 date "2021-02-08" @default.
- W3128651340 modified "2023-10-02" @default.
- W3128651340 title "Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis" @default.
- W3128651340 cites W1511330556 @default.
- W3128651340 cites W1611787727 @default.
- W3128651340 cites W1645810436 @default.
- W3128651340 cites W1701451422 @default.
- W3128651340 cites W1815790842 @default.
- W3128651340 cites W1922667884 @default.
- W3128651340 cites W1925025997 @default.
- W3128651340 cites W1964685140 @default.
- W3128651340 cites W1966063855 @default.
- W3128651340 cites W1968492035 @default.
- W3128651340 cites W1969049846 @default.
- W3128651340 cites W1970190995 @default.
- W3128651340 cites W1970256864 @default.
- W3128651340 cites W1972579010 @default.
- W3128651340 cites W1974515438 @default.
- W3128651340 cites W1975409145 @default.
- W3128651340 cites W1976500765 @default.
- W3128651340 cites W1977257346 @default.
- W3128651340 cites W1977785981 @default.
- W3128651340 cites W1978194565 @default.
- W3128651340 cites W1978470943 @default.
- W3128651340 cites W1978866588 @default.
- W3128651340 cites W1979991648 @default.
- W3128651340 cites W1982081156 @default.
- W3128651340 cites W1985578849 @default.
- W3128651340 cites W1985976240 @default.
- W3128651340 cites W1986117681 @default.
- W3128651340 cites W1986387103 @default.
- W3128651340 cites W1987565785 @default.
- W3128651340 cites W1988211271 @default.
- W3128651340 cites W1991662898 @default.
- W3128651340 cites W1992987620 @default.
- W3128651340 cites W1994081272 @default.
- W3128651340 cites W1995350196 @default.
- W3128651340 cites W1996544912 @default.
- W3128651340 cites W1999374995 @default.
- W3128651340 cites W2003193394 @default.
- W3128651340 cites W2004167712 @default.
- W3128651340 cites W2006607734 @default.
- W3128651340 cites W2007518450 @default.
- W3128651340 cites W2010486934 @default.
- W3128651340 cites W2010979861 @default.
- W3128651340 cites W2011300317 @default.
- W3128651340 cites W2014914565 @default.
- W3128651340 cites W2017316218 @default.
- W3128651340 cites W2017529430 @default.
- W3128651340 cites W2021226443 @default.
- W3128651340 cites W2021403016 @default.
- W3128651340 cites W2022133540 @default.
- W3128651340 cites W2023744385 @default.
- W3128651340 cites W2023849652 @default.
- W3128651340 cites W2030128920 @default.
- W3128651340 cites W2032155043 @default.
- W3128651340 cites W2033705265 @default.
- W3128651340 cites W2034009074 @default.
- W3128651340 cites W2034379042 @default.
- W3128651340 cites W2036752991 @default.
- W3128651340 cites W2036836274 @default.
- W3128651340 cites W2037713332 @default.
- W3128651340 cites W2039016753 @default.
- W3128651340 cites W2039189574 @default.
- W3128651340 cites W2053619970 @default.
- W3128651340 cites W2057756152 @default.
- W3128651340 cites W2057836282 @default.
- W3128651340 cites W2059436289 @default.
- W3128651340 cites W2062667529 @default.
- W3128651340 cites W2063781137 @default.
- W3128651340 cites W2064409944 @default.
- W3128651340 cites W2068364177 @default.
- W3128651340 cites W2069131863 @default.
- W3128651340 cites W2069251721 @default.
- W3128651340 cites W2071076622 @default.
- W3128651340 cites W2073947789 @default.
- W3128651340 cites W2074045628 @default.
- W3128651340 cites W2074506747 @default.
- W3128651340 cites W2075074975 @default.
- W3128651340 cites W2075986822 @default.
- W3128651340 cites W2079273030 @default.
- W3128651340 cites W2082061386 @default.
- W3128651340 cites W2082483408 @default.
- W3128651340 cites W2084992917 @default.
- W3128651340 cites W2087418400 @default.
- W3128651340 cites W2088170512 @default.
- W3128651340 cites W2088383473 @default.
- W3128651340 cites W2088476715 @default.
- W3128651340 cites W2089233192 @default.
- W3128651340 cites W2089392027 @default.
- W3128651340 cites W2090147735 @default.
- W3128651340 cites W2093992697 @default.
- W3128651340 cites W2099026303 @default.
- W3128651340 cites W2100298873 @default.
- W3128651340 cites W2103205092 @default.