Matches in SemOpenAlex for { <https://semopenalex.org/work/W4226223796> ?p ?o ?g. }
- W4226223796 abstract "Juvenile idiopathic epilepsy (JIE) is a self-limiting neurological disorder with a suspected genetic predisposition affecting young Arabian foals of the Egyptian lineage. The condition is characterized by tonic-clonic seizures with intermittent post-ictal blindness, in which most incidents are sporadic and unrecognized. This study aimed to identify genetic components shared across a local cohort of Arabian foals diagnosed with JIE via a combined whole genome and targeted resequencing approach: Initial whole genome comparisons between a small cohort of nine diagnosed foals (cases) and 27 controls from other horse breeds identified variants uniquely shared amongst the case cohort. Further validation via targeted resequencing of these variants, that pertain to non-intergenic regions, on additional eleven case individuals revealed a single 19bp deletion coupled with a triple-C insertion (Δ19InsCCC) within the TRIM39-RPP21 gene readthrough that was uniquely shared across all case individuals, and absent from three additional Arabian controls. Furthermore, we have confirmed recent findings refuting potential linkage between JIE and other inherited diseases in the Arabian lineage, and refuted the potential linkage between JIE and genes predisposing a similar disorder in human newborns. This is the first study to report a genetic variant to be shared in a sub-population cohort of Arabian foals diagnosed with JIE. Further evaluation of the sensitivity and specificity of the Δ19InsCCC allele within additional cohorts of the Arabian horse is warranted in order to validate its credibility as a marker for JIE, and to ascertain whether it has been introduced into other horse breeds by Arabian ancestry." @default.
- W4226223796 created "2022-05-05" @default.
- W4226223796 creator A5023329595 @default.
- W4226223796 creator A5031153555 @default.
- W4226223796 creator A5042149640 @default.
- W4226223796 creator A5050696617 @default.
- W4226223796 creator A5058798835 @default.
- W4226223796 creator A5067761483 @default.
- W4226223796 creator A5068289538 @default.
- W4226223796 creator A5071672903 @default.
- W4226223796 creator A5073571937 @default.
- W4226223796 creator A5085563673 @default.
- W4226223796 date "2022-01-01" @default.
- W4226223796 modified "2023-10-16" @default.
- W4226223796 title "Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy." @default.
- W4226223796 cites W1554636554 @default.
- W4226223796 cites W1602804419 @default.
- W4226223796 cites W1606533843 @default.
- W4226223796 cites W1901150897 @default.
- W4226223796 cites W1901361814 @default.
- W4226223796 cites W1963990107 @default.
- W4226223796 cites W1964021682 @default.
- W4226223796 cites W1968640862 @default.
- W4226223796 cites W1972421765 @default.
- W4226223796 cites W1974841170 @default.
- W4226223796 cites W1986390832 @default.
- W4226223796 cites W1992176150 @default.
- W4226223796 cites W1992221701 @default.
- W4226223796 cites W1993831761 @default.
- W4226223796 cites W1996403993 @default.
- W4226223796 cites W2000562431 @default.
- W4226223796 cites W2001229907 @default.
- W4226223796 cites W2011695818 @default.
- W4226223796 cites W2013090092 @default.
- W4226223796 cites W2018742603 @default.
- W4226223796 cites W2024021877 @default.
- W4226223796 cites W2024405748 @default.
- W4226223796 cites W2026568437 @default.
- W4226223796 cites W2032367243 @default.
- W4226223796 cites W2032443309 @default.
- W4226223796 cites W2033123297 @default.
- W4226223796 cites W2040884996 @default.
- W4226223796 cites W2041217360 @default.
- W4226223796 cites W2046826638 @default.
- W4226223796 cites W2049283286 @default.
- W4226223796 cites W2051442052 @default.
- W4226223796 cites W2056555981 @default.
- W4226223796 cites W2062129678 @default.
- W4226223796 cites W2062463079 @default.
- W4226223796 cites W2062825482 @default.
- W4226223796 cites W2069135716 @default.
- W4226223796 cites W2071335594 @default.
- W4226223796 cites W2076514957 @default.
- W4226223796 cites W2077663320 @default.
- W4226223796 cites W2083751216 @default.
- W4226223796 cites W2086902074 @default.
- W4226223796 cites W2088895400 @default.
- W4226223796 cites W2091583677 @default.
- W4226223796 cites W2094920145 @default.
- W4226223796 cites W2095413979 @default.
- W4226223796 cites W2099613443 @default.
- W4226223796 cites W2102619694 @default.
- W4226223796 cites W2103441770 @default.
- W4226223796 cites W2103740237 @default.
- W4226223796 cites W2106578986 @default.
- W4226223796 cites W2108234281 @default.
- W4226223796 cites W2108955904 @default.
- W4226223796 cites W2110343195 @default.
- W4226223796 cites W2118094114 @default.
- W4226223796 cites W2119058740 @default.
- W4226223796 cites W2119180969 @default.
- W4226223796 cites W2120076861 @default.
- W4226223796 cites W2121743948 @default.
- W4226223796 cites W2122675682 @default.
- W4226223796 cites W2131037087 @default.
- W4226223796 cites W2134352924 @default.
- W4226223796 cites W2135808986 @default.
- W4226223796 cites W2135893137 @default.
- W4226223796 cites W2137055930 @default.
- W4226223796 cites W2140660632 @default.
- W4226223796 cites W2143847968 @default.
- W4226223796 cites W2146833687 @default.
- W4226223796 cites W2149992227 @default.
- W4226223796 cites W2154521468 @default.
- W4226223796 cites W2155294359 @default.
- W4226223796 cites W2156564520 @default.
- W4226223796 cites W2157269743 @default.
- W4226223796 cites W2167146523 @default.
- W4226223796 cites W2168133698 @default.
- W4226223796 cites W2271707007 @default.
- W4226223796 cites W2281531600 @default.
- W4226223796 cites W2312238923 @default.
- W4226223796 cites W2330753173 @default.
- W4226223796 cites W244117244 @default.
- W4226223796 cites W2460502778 @default.
- W4226223796 cites W2466666916 @default.
- W4226223796 cites W2530110417 @default.
- W4226223796 cites W2604281791 @default.
- W4226223796 cites W2767522737 @default.
- W4226223796 cites W2770798744 @default.