Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic by Miroslav Prucha, Hana Grombirikova, Pavel Zdrahal, Marketa Bloomfield, Zuzana Parackova, Tomas Freiberger

“…A previously published loss-of-function and functionally validated variant NM_000416.2:c.819_822delTAAT in IFNGR1 in a heterozygous state was detected using whole-exome sequencing. …”
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Functional Characterization of <i>PeMep</i> Gene Reveals Its Roles in the Vegetative Growth, Stress Adaptation, and Virulence of <i>Penicillium expansum</i> by Juanying Huang, Chenyang Zhu, Mengyue Wu, Guanghao Li, Luning Zhao, Xiaoshuang Xia, Yun Wang

“…Here, we characterize an effector candidate, PeMep, through whole genome sequencing and functional analyses. Functional validation confirmed the secretory capacity of its signal peptide via yeast assays and subcellular localization. …”
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