基本信息
浏览量:0
职业迁徙
个人简介
Our research focuses on inborn errors of phosphate metabolism and the endocrine regulation of phosphate homeostasis with emphasis on the metabolic and homeostatic effects of phosphate.
In 2006 we identified the genetic defect underlying the childhood disorder Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). HHRH is caused by mutations in NaPi-IIc, a renal sodium-phosphate co-transporter, which is important to conserve phosphate in the kidney and when lost leads to hypophosphatemia and rickets. Our research goal is now to study the role of NaPi-IIc in human phosphate homeostasis and to understand the phenotypic variability of patients suffering from HHRH. For this purpose we are currently using mammalian and Xenopus oocyte expression systems to study the functional properties of the identified human NaPi-IIc mutations in vitro. Plan for the near future is to establish mouse models to study the role of NaPi-IIc in the development of renal stones in vivo. We also established international collaborations to look for NaPi-IIc mutations in new patients suffering from HHRH both to establish their molecular diagnosis and to carefully study their symptoms to see whether only some or all patients are at risk for developing kidney stones.
In 2006 we identified the genetic defect underlying the childhood disorder Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). HHRH is caused by mutations in NaPi-IIc, a renal sodium-phosphate co-transporter, which is important to conserve phosphate in the kidney and when lost leads to hypophosphatemia and rickets. Our research goal is now to study the role of NaPi-IIc in human phosphate homeostasis and to understand the phenotypic variability of patients suffering from HHRH. For this purpose we are currently using mammalian and Xenopus oocyte expression systems to study the functional properties of the identified human NaPi-IIc mutations in vitro. Plan for the near future is to establish mouse models to study the role of NaPi-IIc in the development of renal stones in vivo. We also established international collaborations to look for NaPi-IIc mutations in new patients suffering from HHRH both to establish their molecular diagnosis and to carefully study their symptoms to see whether only some or all patients are at risk for developing kidney stones.
研究兴趣
论文共 68 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Zewu Zhu,Bryan Bo-Ran Ho,Alyssa Chen, James Amrhein,Andreea Apetrei,Thomas Oliver Carpenter,Marise Lazaretti-Castro,Juan Manuel Colazo,Kathryn McCrystal Dahir,Michaela Geßner,Evgenia Gurevich, Cathrine Alsaker Heier,Jill Hickman Simmons,Tracy Earl Hunley,Bernd Hoppe,Christina Jacobsen,Anne Kouri,Nina Ma,Sachin Majumdar,Arnaud Molin,Natalie Nokoff,Susan M Ott, Helena Gil Peña,Fernando Santos,Peter Tebben,Lisa Swartz Topor,Yanhong Deng,Clemens Bergwitz
Kidney internationalno. 5 (2024): 1058-1076
Zewu Zhu, Bryan Bo-Ran Ho, Alyssa Chen, James Amrhein, Andreea Apetrei, Thomas Oliver Carpenter, Marise Lazaretti-Castro, Juan Manuel Colazo, Kathryn McCrystal Dahir, Michaela Gessner, Evgenia Gurevich, Cathrine Alsaker Heier, Jill Hickman Simmons, Tracy Earl Hunley, Bernd Hoppe, Christina Jacobsen, Anne Kouri, Nina Ma, Sachin Majumdar, Arnaud Molin, Natalie Nokoff, Susan M. Ott, Helena Gil Pena, Fernando Santos, Peter Tebben, Lisa Swartz Topor, Yanhong Deng,Clemens Bergwitz
KIDNEY INTERNATIONALno. 5 (2024): 159-159
Cell reportsno. 7 (2024): 114397-114397
JOURNAL OF BONE AND MINERAL RESEARCH (2023): 120-120
引用0浏览0引用
0
0
Sreedhara Sangadala,Eileen M. Shore,Meiqi Xu,Clemens Bergwitz, Santiago A. Lozano-Calderon,Angela E. Lin,Scott D. Boden,Frederick S. Kaplan
American journal of medical genetics Part Ano. 8 (2023): 2164-2174
JOURNAL OF BONE AND MINERAL RESEARCH (2023): 229-230
引用0浏览0引用
0
0
Bryan B. Ho,Clemens Bergwitz
Clemens Bergwitz,Simone R. B. M. Eussen, Pilou L. H. R. Janssens, Monique Visser,Thomas O. Carpenter,Ardy van Helvoort
加载更多
作者统计
#Papers: 68
#Citation: 3394
H-Index: 24
G-Index: 58
Sociability: 6
Diversity: 0
Activity: 1
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn