日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system

常染色体显性遗传的 CDC45 缺陷伴等位基因表达偏倚会导致一种新的免疫系统遗传疾病。

Guilz, Nicole C; Ahn, Yong-Oon; Seo, Seungmae; Saturne, Madrikha D; Conte, Matilde I; Shehzad, Sana R; Hegewisch-Solloa, Everardo; Pedroza, Luis Alberto; Castillo, Micah; Gunaratne, Preethi; Chinn, Ivan K; Lupski, James R; Mace, Emily M

Allelic bias contributes to heterogeneous phenotypes of NK cell deficiency

等位基因偏倚导致NK细胞缺陷表型的异质性。

Seungmae Seo ,Yong-Oon Ahn ,Sagar L Patil ,Jacqueline Armetta ,Madrikha D Saturne ,Everardo Hegewisch-Solloa ,Nicole C Guilz ,Achchhe Patel ,Barbara Corneo ,Malgorzata Borowiak ,Emily M Mace

Replication Stress in Activated Human NK Cells Induces Sensitivity to Apoptosis

活化的人类NK细胞中的复制压力诱导其对细胞凋亡的敏感性

Nicole C Guilz ,Yong-Oon Ahn ,Hijab Fatima ,Luis Alberto Pedroza ,Seungmae Seo ,Rajesh Kumar Soni ,Ning Wang ,Dieter Egli ,Emily M Mace

Unwinding the Role of the CMG Helicase in Inborn Errors of Immunity

揭示 CMG 解旋酶在先天性免疫缺陷中的作用

Guilz, Nicole C; Ahn, Yong-Oon; Seo, Seungmae; Mace, Emily M

iPSC-based modeling of helicase deficiency reveals impaired cell proliferation and increased apoptosis after NK cell lineage commitment

基于 iPSC 的解旋酶缺陷建模揭示了 NK 细胞谱系定型后细胞增殖受损和细胞凋亡增加

Seungmae Seo, Sagar L Patil, Yong-Oon Ahn, Jacqueline Armetta, Everardo Hegewisch-Solloa, Micah Castillo, Nicole C Guilz, Achchhe Patel, Barbara Corneo, Malgorzata Borowiak, Preethi Gunaratne, Emily M Mace

Bile acid composition regulates the manganese transporter Slc30a10 in intestine

胆汁酸组成调节肠道中的锰转运蛋白Slc30a10

Tiara R Ahmad, Sei Higuchi, Enrico Bertaggia, Allison Hung, Niroshan Shanmugarajah, Nicole C Guilz, Jennifer R Gamarra, Rebecca A Haeusler