Mutation Description |
"Other non-conserved mutations were identified and several exons could not be found through our analysis, especially in P. tricuspis, for which only two out of the nine exons were retrieved, possibly due to a low-quality assembly" ; "...low-quality assembly (Fig2). Yet, the P. tricuspis sequence also harbored a disruptive premature stop codon in exon 1, which was further validated" |
10.1007/s00239-023-10118-z |
Phenotypic |
"In addition to skin build-up and maintenance, gasdermins, notably Gsdmb and Gsdmd, were shown to affect T-cell differentiation and function, as well as macrophage infiltration, protecting the skin against bacterial infections and contributing to the pathophysiology of skin diseases, such as psoriasis or skin fibrosis (Liu et al. 2021; Yang et al 2022; Ji et al 2023)." |
10.1007/s00239-023-10118-z |