Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Completed
Northwestern University
1995-09-01
OBJECTIVES:
I. Determine the relationship between genotype variations and clinical phenotype in patients
with congenital nephrogenic diabetes insipidus.
Study of Genotype and Phenotype Expression in Congenital Nephrogenic Diabetes Insipidus
Completed
National Center for Research Resources (NCRR)
1995-09-01
OBJECTIVES:
I. Determine the relationship between genotype variations and clinical phenotype in patients
with congenital nephrogenic diabetes insipidus.
Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus
Completed
Northwestern University
1995-12-01
OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II
(AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by
directing the production of an abnormal preprohormone.
II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys
magnocellular neurons because it cannot be folded and processed efficiently.
Study of the Pathogenesis and Pathophysiology of Familial Neurohypophyseal Diabetes Insipidus
Completed
National Center for Research Resources (NCRR)
1995-12-01
OBJECTIVES: I. Determine whether diverse mutations of the vasopressin-neurophysin II
(AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus by
directing the production of an abnormal preprohormone.
II. Determine whether the AVP-NPII gene-directed preprohormone accumulates and destroys
magnocellular neurons because it cannot be folded and processed efficiently.
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