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Depending on its origin, differences are observed between SBR samples by tabletop NMR spectroscopy that relate to the constitution of the macromolecular chains.
Although over 97% of the EPIC subjects are estimated to be of Caucasian origin, differences in allelic frequencies across Europe could in theory cause confounding by population stratification.
For example, regulation of the imprinted Igf2 and H19 genes pivots on parent of origin differences in the DNA methylation pattern and consequently the activity of a CTCF-dependent boundary element upstream of the H19 gene (Bell and Felsenfeld, 2000; Hark et al., 2000).
Comparisons of Indian and Chinese rhesus mitochondrial DNA (mtDNA) sequences, including the hypervariable sequence I (HVS1), 12S and 16S rRNA loci, have shown that as much as 90% of the mtDNA genetic heterogeneity is accounted for by country of origin differences [ 2- 4].
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Genomic imprinting is a process whereby imprinted genes demonstrate parent-of-origin differences in allelic expression.
Careful phenotypic analysis of patients who have disorders caused by UDPGT can be informative for identification of parent-of-origin differences in gene expression.
Although many parent-of-origin differences appear to be resolved prior to genome fusion, some differences clearly persist in many species as evidenced by the different epigenetic states of imprinted loci [ 17].
Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair are inherited from one parent, and the other parent's chromosome for that pair is missing. 1 Uniparental disomy for some chromosomes is without consequence, but for a few chromosomes can result in abnormality in the affected individual through parent-of-origin differences in gene expression.
The formation of chromatin loops and hubs, compartmentalization of coregulated loci, and changes to chromatin condensation are known to participate in the process by which imprinting signals give rise to parent-of-origin differences in gene expression between alleles (Reik et al. 2004; Li et al. 2008; Terranova et al. 2008; Redrup et al. 2009; Sandhu et al. 2009).
For each of the three studies showing X-chromosome parent of origin effects on neuroanatomy in Turner syndrome (Brown et al. 2002; Kesler et al. 2003; Cutter et al. 2006), the observed parental-origin differences parallel the differences between males and 46,XX females (Good et al. 2001; Chen et al. 2007; Wilke et al. 2007), given the information available (Table 1).
We found that the parent-of-origin difference also exists among the seed-plants, but to a much lesser extent (Additional file 9).
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