标题
Familial forms of diabetes insipidus: clinical and molecular characteristics
作者
关键词
-
出版物
Nature Reviews Endocrinology
Volume 7, Issue 12, Pages 701-714
出版商
Springer Nature
发表日期
2011-07-05
DOI
10.1038/nrendo.2011.100
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Functional Characterization of Vasopressin Type 2 Receptor Substitutions (R137H/C/L) Leading to Nephrogenic Diabetes Insipidus and Nephrogenic Syndrome of Inappropriate Antidiuresis: Implications for Treatments
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- Secondary Nephrogenic Diabetes Insipidus as a Complication of Inherited Renal Diseases
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- Progressive polyuria without vasopressin neuron loss in a mouse model for familial neurohypophysial diabetes insipidus
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- Activation of vasopressin neurons leads to phenotype progression in a mouse model for familial neurohypophysial diabetes insipidus
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- Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy
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- Vasopressin Type 2 Receptor V88M Mutation: Molecular Basis of Partial and Complete Nephrogenic Diabetes Insipidus
- (2009) Detlef Bockenhauer et al. NEPHRON PHYSIOLOGY
- Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists
- (2009) J. H. Robben et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The Human Gene Mutation Database: 2008 update
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- Phosphorylation events and the modulation of aquaporin 2 cell surface expression
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- Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations
- (2008) Mari SATOH et al. ENDOCRINE JOURNAL
- AVPR2 variants and mutations in nephrogenic diabetes insipidus: Review and missense mutation significance
- (2008) Elias Spanakis et al. JOURNAL OF CELLULAR PHYSIOLOGY
- Bypassing Vasopressin Receptor Signaling Pathways in Nephrogenic Diabetes Insipidus
- (2008) Richard Bouley et al. SEMINARS IN NEPHROLOGY
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