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

Vitamin D Deficiency Activates Gdnf-Ret-pErk1/2 Signal and Induces Kidney Malformations in Mice.

维生素D缺乏激活Gdnf-Ret-pErk1/2信号通路并诱发小鼠肾脏畸形。

Yu Minghui, Ye Ningli, Ju Haixin, Miao Qianfan, Wang Chunyan, Dai Rufeng, Chen Jing, Zhai Yihui, Sun Lei, Wu Xiaohui, Xu Hong, Shen Qian

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

三重外显子组测序在19.62%的先天性肾脏和泌尿道畸形(CAKUT)家族中发现了新的候选基因中的新生变异。

Merz, Lea Maria; Kolvenbach, Caroline M; Wang, Chunyan; Mertens, Nils David; Seltzsam, Steve; Mansour, Bshara; Zheng, Bixia; Schneider, Sophia; Schierbaum, Luca; Hölzel, Selina; Salmanullah, Daanya; Pantel, Dalia; Kalkar, Gina; Connaughton, Dervla M; Mann, Nina; Wu, Chen-Han Wilfred; Kause, Franziska; Nakayama, Makiko; Dai, Rufeng; Schneider, Ronen; Buerger, Florian; Nicolas-Frank, Camille; Yousef, Kirollos; Lemberg, Katharina; Saida, Ken; Yu, Seyoung; Elmubarak, Izzeldin; Franken, Gijs A C; Lomjansook, Kraisoon; Braun, Alina; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed A; Kari, Jameela A; Ooda, Said; Fathy, Hanan M; Soliman, Neveen A; Nabhan, Marwa; Abdelrahman, Safaa; Hilger, Alina C; Mane, Shrikant M; Ferguson, Michael A; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm

Genitourinary defects, anxiety and aggressive-like behavior and glucose metabolism disorders in Zmym2 mutant mice with inserted piggyBac transposon.

插入 piggyBac 转座子的 Zmym2 突变小鼠出现泌尿生殖系统缺陷、焦虑和攻击性行为以及葡萄糖代谢紊乱

Dai Rufeng, Yin Ye, Yu Minghui, Zhang Yumeng, Zhang Jingjia, Liu Tianyi, Fang Xiaoyan, Wu Xiaohui, Shen Qian, Xu Hong

From mutation to symptoms: a multi-center study on HNF1B-related nephropathy in Chinese children

从基因突变到症状:一项关于中国儿童HNF1B相关肾病的多中心研究

Zhang, Hongying; Wang, Chunyan; Jiang, Xiaoyun; Gao, Xiaojie; Tang, Xiaoshan; Liu, Jiaojiao; Dai, Rufeng; Liu, Jialu; Liao, Panli; Huang, Lin; Yang, Huihui; Zhang, Aihua; Shen, Qian; Wang, Xiaowen; Xu, Hong

Noninvasive genetic testing for type IV collagen nephropathy using oral mucosa DNA sampling in children with haematuria

对伴有血尿的儿童进行口腔黏膜DNA取样,以进行IV型胶原蛋白肾病无创基因检测

Liu, Jiaojiao; Zhou, Dayin; Wang, Xiaowen; Shen, Tong; Wang, Chunyan; Dai, Rufeng; Han, Xinli; Huang, Lin; Xu, Wenli; Chen, Jing; Zhai, Yihui; Rao, Jia; Ma, Duan; Shen, Qian; Xu, Hong

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

利用现有的人类胎儿肾脏单细胞转录组学数据,对肾脏和泌尿道单基因先天性异常候选基因进行优先排序

Schierbaum, Luca M; Schneider, Sophia; Buerger, Florian; Halawi, Abdul Aziz; Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Wu, Chen-Han Wilfried; Dai, Rufeng; Connaughton, Dervla M; Salmanullah, Daanya; Nakayama, Makiko; Mann, Nina; Shril, Shirlee; Hildebrandt, Friedhelm

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

反向表型分析有助于在先天性肾脏和泌尿道畸形(CAKUT)患者的外显子组测序中识别致病等位基因。

Seltzsam, Steve; Wang, Chunyan; Zheng, Bixia; Mann, Nina; Connaughton, Dervla M; Wu, Chen-Han Wilfred; Schneider, Sophia; Schierbaum, Luca; Kause, Franziska; Kolvenbach, Caroline M; Nakayama, Makiko; Dai, Rufeng; Ottlewski, Isabel; Schneider, Ronen; Deutsch, Konstantin; Buerger, Florian; Klämbt, Verena; Mao, Youying; Onuchic-Whitford, Ana C; Nicolas-Frank, Camille; Yousef, Kirollos; Pantel, Dalia; Lai, Ethan W; Salmanullah, Daanya; Majmundar, Amar J; Bauer, Stuart B; Rodig, Nancy M; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daga, Ankana; Baum, Michelle A; Daouk, Ghaleb H; Tasic, Velibor; Awad, Hazem S; Eid, Loai A; El Desoky, Sherif; Shalaby, Mohammed; Kari, Jameela A; Fathy, Hanan M; Soliman, Neveen A; Mane, Shrikant M; Shril, Shirlee; Ferguson, Michael A; Hildebrandt, Friedhelm

Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

全外显子组测序鉴定出FOXL2、FOXA2和FOXA3是肾脏和泌尿道单基因先天性异常的候选基因。

Zheng, Bixia; Seltzsam, Steve; Wang, Chunyan; Schierbaum, Luca; Schneider, Sophia; Wu, Chen-Han Wilfred; Dai, Rufeng; Connaughton, Dervla M; Nakayama, Makiko; Mann, Nina; Stajic, Natasa; Mane, Shrikant; Bauer, Stuart B; Tasic, Velibor; Nam, Hyun Joo; Shril, Shirlee; Hildebrandt, Friedhelm

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

拷贝数变异分析有助于识别肾脏和泌尿系统先天性异常患者的遗传病因

Wu, Chen-Han Wilfred; Lim, Tze Y; Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Schierbaum, Luca; Schneider, Sophia; Mann, Nina; Connaughton, Dervla M; Nakayama, Makiko; van der Ven, Amelie T; Dai, Rufeng; Kolvenbach, Caroline M; Kause, Franziska; Ottlewski, Isabel; Stajic, Natasa; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan M; Milosevic, Danko; Turudic, Daniel; Al Saffar, Muna; Awad, Hazem S; Eid, Loai A; Ramanathan, Aravind; Senguttuvan, Prabha; Mane, Shrikant M; Lee, Richard S; Bauer, Stuart B; Lu, Weining; Hilger, Alina C; Tasic, Velibor; Shril, Shirlee; Sanna-Cherchi, Simone; Hildebrandt, Friedhelm

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

全外显子组测序鉴定出源自小鼠模型的脊柱裂潜在候选基因

Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen-Han Wilfred; Nicolas-Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M; Connaughton, Dervla M; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A; El Desoky, Sherif; Shalaby, Mohammed; Eid, Loai A; Awad, Hazem S; Tasic, Velibor; Mane, Shrikant M; Lifton, Richard P; Baum, Michelle A; Shril, Shirlee; Estrada, Carlos R; Hildebrandt, Friedhelm