Stochastic phenotypes in RAS-dependent developmental diseases

Piezo regulates epithelial topology and promotes precision in organ size control

“…As a result, there is a faster, yet ineffective closure of the wound. Increased phenotypic heterogeneity was also noted when activation of MEK occurred 80 , which suggests a possible shared mechanism given Piezo's role in activating MAPK signaling 65 , to be investigated in future work. Interestingly, pharmacological inhibition of Piezo using GSMTx4 also showed a decrease in cell bond tension.…”

Review: Cancer and neurodevelopmental disorders: multi-scale reasoning and computational guide

“…Proliferation and differentiation are vital to both cancer and NDDs. The fact that the same proteins in these pathways, and even the same mutated residues are involved ( Marmion et al, 2023 ), raises compelling questions, including (i) why the phenotypic presentations are vastly different, and (ii) how we can develop a strategy to identify and predict NDD-related mutations and distinguish them from those related to cancer even though the same residue is mutated. If we are able to develop such a strategy, it may help in early NDD diagnosis.…”

Phase plane dynamics of ERK phosphorylation

“…Most pathogenic variants of MEK and ERK have amino acid substitutions in different parts of these proteins. Investigating the effects of these sequence changes leads to questions at multiple levels of biological organization ( 7 , 12 , 13 , 14 , 15 ): What happens to the structure and dynamics of the molecule harboring a substitution? What are the effects of these changes on the mechanisms and rates of reactions in which this molecule participates?…”