ELIZA cgi-bash version rev. 1.91
- Medical English LInking keywords finder for the PubMed Zipped Archive (ELIZA) -

return kwic search for observed out of >500 occurrences
392826 occurrences (No.45 in the rank) during 5 years in the PubMed. [cache]
171) For protein-altering variants, no genome-wide significant results were observed for epilepsy status.
--- ABSTRACT ---
PMID:34490042 DOI:10.3389/fgene.2021.714282
2021 Frontiers in genetics
* Whole Genome Sequence Data From Captive Baboons Implicate RBFOX1 in Epileptic Seizure Risk.
- In this study, we investigate the genetic determinants that underlie epilepsy in a captive baboon pedigree and evaluate the potential suitability of this non-human primate model for understanding the genetic etiology of human epilepsy. Archived whole-genome sequence data were analyzed using both a candidate gene approach that targeted variants in baboon homologs of 19 genes (n = 20,881 SNPs) previously implicated in genetic generalized epilepsy (GGE) and a more agnostic approach that examined protein-altering mutations genome-wide as assessed by snpEff (n = 36,169). Measured genotype association tests for baboon cases of epileptic seizure were performed using SOLAR, as well as gene set enrichment analyses (GSEA) and protein-protein interaction (PPI) network construction of top association hits genome-wide (p < 0.01; n = 441 genes). The maximum likelihood estimate of heritability for epileptic seizure in the pedigreed baboon sample is 0.76 (SE = 0.77; p = 0.07). Among candidate genes for GGE, a significant association was detected for an intronic SNP in RBFOX1 (p = 5.92 × 10-6; adjusted p = 0.016). For protein-altering variants, no genome-wide significant results were observed for epilepsy status. However, GSEA revealed significant positive enrichment for genes involved in the extracellular matrix structure (ECM; FDR = 0.0072) and collagen formation (FDR = 0.017), which was reflected in a major PPI network cluster. This preliminary study highlights the potential role of RBFOX1 in the epileptic baboon, a protein involved in transcriptomic regulation of multiple epilepsy candidate genes in humans and itself previously implicated in human epilepsy, both focal and generalized. Moreover, protein-damaging variants from across the genome exhibit a pattern of association that links collagen-containing ECM to epilepsy risk. These findings suggest a shared genetic etiology between baboon and human forms of GGE and lay the foundation for follow-up research.
--- ABSTRACT END ---
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(1)119 in (11)6 a (21)4 when (31)2 associations
(2)35 *null* (12)6 an (22)3 among (32)2 differences
(3)35 for (13)6 the (23)3 data (33)2 due
(4)23 that (14)5 as (24)3 enhanced (34)2 enzyme
(5)23 with (15)5 at (25)3 increased (35)2 increase
(6)18 between (16)4 on (26)3 interim (36)2 reading
(7)10 by (17)4 only (27)3 previously (37)2 significant
(8)9 and (18)4 to (28)3 significantly
(9)9 during (19)4 under (29)2 (p
(10)7 after (20)4 using (30)2 THC

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--- WordNet output for observed --- Overview of verb observe The verb observe has 9 senses (first 8 from tagged texts) 1. (39) detect, observe, find, discover, notice -- (discover or determine the existence, presence, or fact of; "She detected high levels of lead in her drinking water"; "We found traces of lead in the paint") 2. (17) note, observe, mention, remark -- (make mention of; "She observed that his presentation took up too much time"; "They noted that it was a fine day to go sailing") 3. (12) note, take note, observe -- (observe with care or pay close attention to; "Take note of this chemical reaction") 4. (10) observe -- (watch attentively; "Please observe the reaction of these two chemicals") 5. (4) respect, honor, honour, abide by, observe -- (show respect towards; "honor your parents!") 6. (3) observe, celebrate, keep -- (behave as expected during of holidays or rites; "Keep the commandments"; "celebrate Christmas"; "Observe Yom Kippur") 7. (2) watch, observe, follow, watch over, keep an eye on -- (follow with the eyes or the mind; "Keep an eye on the baby, please!"; "The world is watching Sarajevo"; "She followed the men with the binoculars") 8. (1) observe, keep, maintain -- (stick to correctly or closely; "The pianist kept time with the metronome"; "keep count"; "I cannot keep track of all my employees") 9. observe, keep -- (conform one's action or practice to; "keep appointments"; "she never keeps her promises"; "We kept to the original conditions of the contract") Overview of adj observed The adj observed has 1 sense (first 1 from tagged texts) 1. (7) ascertained, discovered, observed -- (discovered or determined by scientific observation; "variation in the ascertained flux depends on a number of factors"; "the discovered behavior norms"; "discovered differences in achievement"; "no explanation for the observed phenomena") --- WordNet end ---