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

Dnajb11-Kidney Disease Develops from Reduced Polycystin-1 Dosage but not Unfolded Protein Response in Mice

Dnajb11-小鼠肾脏疾病是由多囊蛋白-1剂量减少而非未折叠蛋白反应引起的

Sounak Ghosh Roy, Zhigui Li, Zi Guo, Kelly Tran Long, Sonja Rehrl, Xin Tian, Ke Dong, Whitney Besse

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease

TULP3 致病变异导致肾脏和肝脏纤维囊性疾病

Hossein Jafari Khamirani, Vivek Reddy Palicharla, Seyed Alireza Dastgheib, Mehdi Dianatpour, Mohammad Hadi Imanieh, Seyed Sajjad Tabei, Whitney Besse, Saikat Mukhopadhyay, Karel F Liem Jr

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

DNAJB11 单等位基因突变导致非典型常染色体显性多囊肾病

Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri

Isolated polycystic liver disease genes define effectors of polycystin-1 function

分离的多囊肝病基因定义多囊蛋白-1功能的效应物

Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V Fedeles, Murim Choi, Anna-Rachel Gallagher, Emily B Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna-Cherchi, Richard P Lifton, Terry Watnick, York P Pei, Vicente E Torres, Stefan Somlo