Human Molecular Genetics

7 Articles

• A Novel Mechanism in Recessive Nephrogenic Diabetes Insipidus: Wild-Type Aquaporin-2 Rescues the Apical Membrane Expression of Intracellularly Retained AQP2-P262L
• A Null Mutation in the Vasopressin V2 Receptor Gene (AVPR2) Associated with Nephrogenic Diabetes Insipidus in the Hopewell Kindred
• Aminoglycoside-Mediated Rescue of a Disease-Causing Nonsense Mutation in the V2 Vasopressin Receptor Gene In Vitro and In Vivo
• Heteroligomerization of an Aquaporin-2 Mutant with Wild-Type Aquaporin-2 and Their Misrouting to Late Endosomes/Lysosomes Explains Dominant Nephrogenic Diabetes Insipidus
• Identification and Characterization of Aquaporin-2 Water Channel Mutations Causing Nephrogenic Diabetes Insipidus with Partial Vasopressin Response
• Mutations in the Vasopressin V2-Receptor Gene in Three Families of Italian Descent with Nephrogenic Diabetes Insipidus
• Novel Mutations in the V2 Vasopressin Receptor Gene of Patients with X-Linked Nephrogenic Diabetes Insipidus