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"Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus."
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"Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus."
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"A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus."
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"Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus."
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"Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus."
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"Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus."
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"Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant."
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"Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier."
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"Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two Dutch families with familial neurohypophyseal diabetes insipidus."
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"A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes."
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"Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene."
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Int. J. Mol. Med.5:229-234(2000) [PubMed] [Europe PMC] [Abstract]

"A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus."
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"Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone."
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J. Clin. Endocrinol. Metab.86:3410-3420(2001) [PubMed] [Europe PMC] [Abstract]

"A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus."
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Mol. Genet. Metab.72:39-44(2001) [PubMed] [Europe PMC] [Abstract]

"Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene."
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Eur. J. Endocrinol.146:649-656(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus."
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"Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine-2 in the vasopressin moiety of the hormone precursor."
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J. Clin. Endocrinol. Metab.87:3351-3355(2002) [PubMed] [Europe PMC] [Abstract]

"A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus."
Santiprabhob J. , Browning J.E. , Repaske D.R.
Mol. Genet. Metab.77:112-118(2002) [PubMed] [Europe PMC] [Abstract]

"A signal peptide mutation of the arginine vasopressin gene in monozygotic twins."
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Clin. Endocrinol. (Oxf.)58:108-110(2003) [PubMed] [Europe PMC] [Abstract]

"Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene."
Elias P.C.L. , Elias L.L.K. , Torres N. , Moreira A.C. , Antunes-Rodrigues J. , Castro M.
Clin. Endocrinol. (Oxf.)59:511-518(2003) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus."
Wolf M.T.F. , Doetsch J. , Metzler M. , Holder M. , Repp R. , Rascher W.
Horm. Res.60:143-147(2003) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety."
Baglioni S. , Corona G. , Maggi M. , Serio M. , Peri A.
Eur. J. Endocrinol.151:605-611(2004) [PubMed] [Europe PMC] [Abstract]

"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 J.H. , Siggaard C. , Corydon T.J. , deSanctis L. , Kovacs L. , Robertson G.L. , Gregersen N. , Rittig S.
Eur. J. Hum. Genet.12:44-51(2004) [PubMed] [Europe PMC] [Abstract]