Searching journal content for articles similar to Cooper and Brown 18 (2): 201.

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  1. ...indices (negative strand). Figure 4C shows the distribution of correlation coefficients across all qualifying regions. The resulting correlation coefficients are distributed around zero, and positive coefficients are less frequent than negative ones (Figure 4C). This finding further supports independent...
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  2. ...-3 lacks a prodomain in the N-terminal region, suggesting constitutive metalloproteinase activity. As a consequence, ISF-3 loses two of four glycosylation sites from the prodomain (Srinivasan et al. 2014) but preserves the conserved glutamate (158E), which is essential for prodomain's catalytic...
  3. ...“oligogenic transmission” and “oligogenic inheritance” to describe an event in which qualifying variants were inherited separately from both parents or include a de novo mutation, such that an unaffected parent did not also carry that same combination of variants. The count of observed oligogenic...
  4. ...populations like gnomAD (Chen et al. 2024), conservation metrics like phyloP (Pollard et al. 2010) and phastCons (Siepel et al. 2005), pathogenicity scores like MPC (Samocha et al. 2017) and CADD (Kircher et al. 2014), and gene intolerance scores like RVIS (Petrovski et al. 2013) and pLI (Lek et al. 2016...
  5. ...was a conserved armadillo repeat domain spanning exons 12–14 of PKP4 (plakophilin 4, also known as p0071). Qualifying variants occurred in 0.61% of ALS cases and 0.13% of controls (OR = 4.6, P = 4.1 × 10−5). While not -wide significant, PKP4 is a relevant candidate gene that has been previously linked to various...
  6. ...,B), and feature qualifiers for metadata displays. Terms from the Sequence Ontology (SO) (Eilbeck et al. 2005) were additionally used to provide further specificity for features lacking a specific INSDC feature or class, and SO terms were also used to define -anchored features in GFF3- and big...
  7. ...enrichment for processes related to neurological functions. However, although this transcriptomic convergence underscores potential commonalities in the molecular pathways underpinning the pathophysiology of male sex-chromosome aneuploidies, whether this common transcriptional dysregulation is conserved...
  8. .... 2021; Linnert et al. 2023). Therefore, CIB2 is included in our analyses as these results could add to the discussion of whether it qualifies as an Usher syndrome–associated gene.Obtaining a comprehensive understanding of the Usher syndrome–associated transcript isoforms in the human retina is crucial...
  9. ...of Educational Department of China and the Key Lab of Tree Genetics and Silvicultural Sciences of Jiangsu Province, Nanjing Forestry University, Nanjing 210037, China; 2Key Laboratory of State Forestry and Grassland Administration on Subtropical Forest Biodiversity Conservation, College of Biology...
  10. ...suggested a greater functional relevance for conserved regulatory activity (Arnold et al. 2014; Castelijns et al. 2020; VanOudenhove et al. 2020; Wong et al. 2020). In contrast, lineage-specific elements appear partly compensatory of proximally lost events (Arnold et al. 2014; Berthelot et al. 2018...
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