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

Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnover

驱动蛋白KIF12的突变通过破坏脂肪生成酶的周转,促进人类和小鼠的MASH发生。

Asieh Etemad,Yosuke Tanaka,Shuo Wang,Mordechai Slae,Mutaz Sultan,Orly Elpeleg,Nobutaka Hirokawa

RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features

RIPK1 突变导致婴儿期发病的 IBD,具有炎症和瘘管形成特征

Mutaz Sultan, Mohammad Adawi, Nitzan Kol, Blake McCourt, Ihda Adawi, Liran Baram, Noa Tal, Lael Werner, Atar Lev, Scott B Snapper, Ortal Barel, Liza Konnikova, Raz Somech, Dror S Shouval

Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

两兄弟患有先天性腹泻和胆汁淤积症,有机溶质转运蛋白-β(SLC51B)缺乏症

Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M Vaz, Bassam Abu-Libdeh, Saul J Karpen, Paul A Dawson