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NDI: An Overview
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2004 - Phoenix
2002 - Heemskerk
2000 - La Jolla
1999 - Amsterdam
1998 - La Jolla
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Contact Information
Paul J.M. Savelkoul
Title:
PhD
Email:
Phone:
Work (301) 402-3688, Fax (301) 402-7290
Organization:
NHGRI
Division:
NIH
Department:
Medical Genetics Branch
Address:
Building 10, Rm. 10C-209, MSC 1851 10 Center Drive
Bethesda, MD 20892-1851
United States
4 Articles
4 Articles
A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
The Role of Putative Phosphorylation Sites in the Targeting and Shuttling of the Aquaporin-2 Water Channel
Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus
Aquaporin-2: COOH Terminus is Necessary But Not Sufficient for Routing to the Apical Membrane
5 Conference Proceedings
5 Conference Proceedings
Role of phosphorylation in the trafficking and shuttling of the Aquaporin-2 water channel
Impaired routing of AQP2 to late endosomes/lysosomes following heterotetramerization with AQP2-E258K is likely to explain dominant nephrogenic diabetes insipidus
Lack of AVP-induced phosphorylation of the Aquaporin-2 mutants AQP2-R254L and AQP2-R254Q explains dominant Nephrogenic Diabetes Insipidus
Mono-ubiquitination and missorting to lysosomes of the Aquaporin-2 water channel mutant AQP2-E258K explains dominant Nephrogenic Diabetes Insipidus
Wild-type aquaporin-2 rescues a novel aquaporin-2 mutant in recessive Nephrogenic Diabetes Insipidus to the apical plasma membrane
4 Articles
4 Articles