A Novel Mutation (R97C) in the Neurophysin Moiety of Prepro-Vasopressin-Neurophysin II Associated with Autosomal-Dominant Neurohypophyseal Diabetes Insipidus

The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line.

Edward A. Sausville, D Carney, James F. Battey · Journal of Biological Chemistry · 1985 · 340 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum.

Masaki Ito, J. Larry Jameson, Masaki Ito · Journal of Clinical Investigation · 1997 · 173 citations · Full text

Life Sciences, Neurobiology, Neuroscience +16

Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.

Søren Rittig, Gary L. Robertson, C. Siggaard et al. · PubMed · 1996 · 151 citations

Life Sciences, Genetics, Molecular Genetics +9

Crystal structure of a bovine neurophysin II dipeptide complex at 2.8 A determined from the single-wavelength anomalous scattering signal of an incorporated iodine atom.

Long‐Qing Chen, J.P. Rose, Esther Breslow et al. · Proceedings of the National Academy of Sciences · 1991 · 142 citations

Life Sciences, Biochemistry, Biophysics +16

A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus.

Masaki Ito, Y Mori, Yutaka Oiso et al. · Journal of Clinical Investigation · 1991 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13