Associated Papers
Central Diabetes Insipidus Caused by Arginine Vasopressin Gene Mutation: Report of a Novel Mutation and Review of Literature.
Feldkamp LLI et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 2020
Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene.
Jendle J et al.
Clinical Endocrinology, 2012
Akt induces apoptosis in neuroblastoma cells expressing a C98X vasopressin mutant following autophagy suppression.
Castino R et al.
Journal of Neuroendocrinology, 2008
Familial neurohypophyseal diabetes insipidus--an update.
Christensen JH et al.
Seminars in Nephrology, 2006
Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.
Siggaard C et al.
Clinical Endocrinology, 2005
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
Christensen JH et al.
European Journal of Human Genetics : Ejhg, 2004
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus.
Christensen JH et al.
Clinical Endocrinology, 2004
Autosomal dominant familial neurohypophyseal diabetes insipidus.
Christensen JH et al.
Apmis. Supplementum, 2003
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
Rittig S et al.
American Journal of Human Genetics, 1996
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