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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.
Research Interests
Papers共 64 篇Author StatisticsCo-AuthorSimilar Experts
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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,
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,
Kidney internationalno. 1 (2024): 159-159
Eijiro Sakamoto,Yukiko Kitase, Alexander J Fitt, Zewu Zhu,Kamal Awad, Marco Brotto,Kenneth E White, Steven S Welc,Clemens Bergwitz,Lynda F Bonewald
Cell reportsno. 7 (2024): 114397-114397
JOURNAL OF BONE AND MINERAL RESEARCH (2023): 120-120
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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
Clemens Bergwitz,Simone R. B. M. Eussen, Pilou L. H. R. Janssens, Monique Visser,Thomas O. Carpenter,Ardy van Helvoort
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