Max R Highsmith's research works | University of Missouri, Missouri (Mizzou) and other places

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Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome

Article

Apr 2023

As an aneuploidy, trisomy is associated with mammalian embryonic and postnatal abnormalities. Understanding the underlying mechanisms involved in mutant phenotypes is broadly important and may lead to new strategies to treat clinical manifestations in individuals with trisomies, such as trisomy 21 (Down syndrome). While increased gene dosage effect...

Figure 1. Differentially methylated regions identified within IGF2R ICR...

Figure 5. Distribution of altered IGF2R ICR far-cis and trans contact...

Figure 6. Location based clustering tendency of differentially...

Allele-specific aberration of imprinted domain chromosome architecture associates with large offspring syndrome

Article

Full-text available

Apr 2022

Large offspring syndrome (LOS) and Beckwith-Wiedemann syndrome are a similar epigenetic congenital overgrowth conditions in ruminants and humans, respectively. We have reported global loss-of-imprinting, methylome epimutations, and gene misregulation in LOS. However, less than 4% of gene misregulation can be explained with short range (<20kb) alter...

Performance metrics of different models on insulation using S2 cell line

TAPIOCA: Topological Attention and Predictive Inference of Chromatin Arrangement Using Epigenetic Features

Preprint

Full-text available

May 2021

Chromatin conformation is an important characteristic of the genome which has been repeatedly demonstrated to play vital roles in many biological processes. Chromatin can be characterized by the presence or absence of structural motifs called topologically associated domains. The de facto strategy for determination of topologically associated domai...