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

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping

PERADIGM:基于表型嵌入相似性的罕见病基因映射

Zheng, Wangjie; Xie, Yuhan; Gu, Jianlei; Li, Hongyu; Somlo, Stefan; Besse, Whitney; Zhao, Hongyu

Polycystin-1 acts as an atypical adhesion GPCR that responds to novel Wnt signaling and mechanical stimuli

多囊蛋白-1是一种非典型的黏附性G蛋白偶联受体,可响应新型Wnt信号通路和机械刺激。

Gresko, Nikolay P; Padovano, Valeria; Berg, Peder; Ong, Albert C M; Somlo, Stefan; Scholz, Nicole; Langenhan, Tobias; Caplan, Michael J

A T-cell intrinsic Role for APOL1 Risk Alleles in Allograft Rejection

APOL1风险等位基因在同种异体移植排斥反应中的T细胞内在作用

Pell, John; Tanvir, E M; Sun, Zeguo; Chernova, Irene; Reghuvaran, Anand; Nagata, Soichiro; Guerra, Mateus; Choi, John; Chaar, Soltan Al; Mizuno, Hiroki; Dong, Ke; Tian, Xin; Ishibe, Reika; Franchin, Barbara; Cravedi, Paolo; Kumar, Ashwani; Barsotti, Gabriel; Shi, Hongmei; Kumar, Bony De; Song, Wenzhi; He, Cijiang; Pober, Jordan S; Somlo, Stefan; Gibson, Ian W; Popik, Waldemar; Zhang, Zhongyang; Craft, Joseph; Azzi, Jamil; Murakami, Naoka; Ishibe, Shuta; Heeger, Peter; Menon, Madhav C

Glis3 is a modifier of cyst progression in autosomal dominant polycystic kidney disease.

Glis3 是常染色体显性多囊肾病中囊肿进展的调节因子

Wei Zemeng, Gu Jianlei, Tian Xin, Zhang Chao, Zhao Hongyu, Somlo Stefan

Genetic Analysis of Severe Polycystic Liver Disease in Japan

日本重度多囊肝病的基因分析

Mizuno, Hiroki; Besse, Whitney; Sekine, Akinari; Long, Kelly T; Kurihara, Shigekazu; Oba, Yuki; Yamanouchi, Masayuki; Hasegawa, Eiko; Suwabe, Tatsuya; Sawa, Naoki; Ubara, Yoshifumi; Somlo, Stefan; Hoshino, Junichi

Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease

PKD1低功能等位基因影响常染色体显性多囊肾病的疾病变异性

Gulati, Ashima; Dahl, Neera K; Hartung, Erum A; Clark, Stephanie L; Moudgil, Asha; Goodwin, Julie; Somlo, Stefan

Advancing Nephrology: Division Leaders Advise ASN

推进肾脏病学发展:各科室负责人向美国肾脏病学会提出建议

Braden, Gregory L; Chapman, Arlene; Ellison, David H; Gadegbeku, Crystal A; Gurley, Susan B; Igarashi, Peter; Kelepouris, Ellie; Moxey-Mims, Marva M; Okusa, Mark D; Plumb, Troy J; Quaggin, Susan E; Salant, David J; Segal, Mark S; Shankland, Stuart J; Somlo, Stefan

Restoration of proximal tubule flow-activated transport prevents cyst growth in polycystic kidney disease

恢复近端肾小管流动激活转运功能可预防多囊肾病中的囊肿生长

Du, Zhaopeng; Tian, Xin; Ma, Ming; Somlo, Stefan; Weinstein, Alan M; Wang, Tong

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD

成人双侧肾囊肿和慢性肾病患者的IV型胶原蛋白基因突变

Gulati, Ashima; Sevillano, Angel M; Praga, Manuel; Gutierrez, Eduardo; Alba, Ignacio; Dahl, Neera K; Besse, Whitney; Choi, Jungmin; Somlo, Stefan

Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease

GANAB 和 SEC63 基因的大片段缺失解释了 2 例多囊肾和多囊肝病病例。

Wilson, Elena M; Choi, Jungmin; Torres, Vicente E; Somlo, Stefan; Besse, Whitney