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Volumn 90, Issue 7, 2005, Pages 4388-4393

Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene

Author keywords

[No Author keywords available]

Indexed keywords

HORMONE PRECURSOR; OXYTOCIN;

EID: 23044492523     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-2000     Document Type: Conference Paper
Times cited : (21)

References (24)
  • 3
    • 0025344530 scopus 로고
    • Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus
    • Repaske DR, Phillips JA 3rd, Kirby LT 1990 Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 70:752-757
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 752-757
    • Repaske, D.R.1    Phillips III, J.A.2    Kirby, L.T.3
  • 4
    • 0141728373 scopus 로고    scopus 로고
    • Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene
    • Oxf
    • Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J, Castro M 2003 Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clin Endocrinol (Oxf) 59:511-518
    • (2003) Clin Endocrinol , vol.59 , pp. 511-518
    • Elias, P.C.1    Elias, L.L.2    Torres, N.3    Moreira, A.C.4    Antunes-Rodrigues, J.5    Castro, M.6
  • 5
    • 0042386243 scopus 로고    scopus 로고
    • A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus
    • Wolf MT, Dotsch J, Metzler M, Holder M, Repp R, Rascher W 2003 A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. Horm Res 60:143-147
    • (2003) Horm Res , vol.60 , pp. 143-147
    • Wolf, M.T.1    Dotsch, J.2    Metzler, M.3    Holder, M.4    Repp, R.5    Rascher, W.6
  • 6
    • 0036319618 scopus 로고    scopus 로고
    • Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine (2) in the vasopressin moiety of the hormone precursor
    • Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL 2002 Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine (2) in the vasopressin moiety of the hormone precursor. J Clin Endocrinol Metab 87:3351-3355
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3351-3355
    • Rittig, S.1    Siggaard, C.2    Ozata, M.3    Yetkin, I.4    Gregersen, N.5    Pedersen, E.B.6    Robertson, G.L.7
  • 8
    • 0036113787 scopus 로고    scopus 로고
    • 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
    • Rutishauser J, Kopp P, Gaskill MB, Kotlar TJ, Robertson GL 2002 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. Eur J Endocrinol 146:649-656
    • (2002) Eur J Endocrinol , vol.146 , pp. 649-656
    • Rutishauser, J.1    Kopp, P.2    Gaskill, M.B.3    Kotlar, T.J.4    Robertson, G.L.5
  • 9
    • 0035715968 scopus 로고    scopus 로고
    • A missense mutation encoding Cys(67) → Gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus
    • DiMeglio LA, Gagliardi PC, Browning JE, Quigley CA, Repaske DR 2001 A missense mutation encoding Cys(67) → Gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 72:39-44
    • (2001) Mol Genet Metab , vol.72 , pp. 39-44
    • DiMeglio, L.A.1    Gagliardi, P.C.2    Browning, J.E.3    Quigley, C.A.4    Repaske, D.R.5
  • 11
    • 0027381580 scopus 로고
    • Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus
    • Yuasa H, Ito M, Nagasaki H 1993 Glu-47, which forms a salt bridge between neurophysin-II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. J Clin Endocrinol Metab 77:600-604
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 600-604
    • Yuasa, H.1    Ito, M.2    Nagasaki, H.3
  • 12
    • 0029655385 scopus 로고    scopus 로고
    • Identification of 13 new mutations in the vasopressinneurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus
    • Rittig S, Robertson GL, Siggaard C, Kovacs L, Gregersen N, Nyborg J, Pedersen EB 1996 Identification of 13 new mutations in the vasopressinneurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 58:107-117
    • (1996) Am J Hum Genet , vol.58 , pp. 107-117
    • Rittig, S.1    Robertson, G.L.2    Siggaard, C.3    Kovacs, L.4    Gregersen, N.5    Nyborg, J.6    Pedersen, E.B.7
  • 13
    • 0036172574 scopus 로고    scopus 로고
    • Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation
    • Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL, ItoM2002 Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. J Clin Endocrinol Metab 87:870-876
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 870-876
    • Mahoney, C.P.1    Weinberger, E.2    Bryant, C.3    Ito, M.4    Jameson, J.L.5    Ito, M.6
  • 14
    • 0034715063 scopus 로고    scopus 로고
    • A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum
    • Nijenhuis M, Zalm R, Burbach JP 2000 A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum. Mol Cell Endocrinol 167:55-67
    • (2000) Mol Cell Endocrinol , vol.167 , pp. 55-67
    • Nijenhuis, M.1    Zalm, R.2    Burbach, J.P.3
  • 15
    • 0025805918 scopus 로고
    • 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
    • Chen LQ, Rose JP, Breslow E 1991 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. Proc Natl Acad Sci USA 88:4240-4244
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 4240-4244
    • Chen, L.Q.1    Rose, J.P.2    Breslow, E.3
  • 16
    • 0042821812 scopus 로고    scopus 로고
    • Regulatory domains in the intergenic region of the oxytocin and vasopressin genes that control their hypothalamus-specific expression in vitro
    • Fields RL, House SB, Gainer H 2003 Regulatory domains in the intergenic region of the oxytocin and vasopressin genes that control their hypothalamus-specific expression in vitro. J Neurosci 23:7801-7809
    • (2003) J Neurosci , vol.23 , pp. 7801-7809
    • Fields, R.L.1    House, S.B.2    Gainer, H.3
  • 17
    • 0035375052 scopus 로고    scopus 로고
    • Interaction of the ring finger-related U-box motif of a nuclear dot protein with ubiquitin-conjugating enzymes
    • Pringa E, Martinez-Noel G, Muller U, Harbers K 2001 Interaction of the ring finger-related U-box motif of a nuclear dot protein with ubiquitin-conjugating enzymes. J Biol Chem 276:19617-19623
    • (2001) J Biol Chem , vol.276 , pp. 19617-19623
    • Pringa, E.1    Martinez-Noel, G.2    Muller, U.3    Harbers, K.4
  • 19
    • 1642351195 scopus 로고    scopus 로고
    • Regulation of vasopressin secretion by ETA and ETB receptors in compartmentalized rat hypothalamo-neurohypophysial explants
    • Rossi NF 2004 Regulation of vasopressin secretion by ETA and ETB receptors in compartmentalized rat hypothalamo-neurohypophysial explants. Am J Physiol Endocrinol Metab 286:E535-E541
    • (2004) Am J Physiol Endocrinol Metab , vol.286
    • Rossi, N.F.1
  • 20
    • 0036224988 scopus 로고    scopus 로고
    • Role of ghrelin in the regulation of vasopressin release in conscious rats
    • Ishizaki S, Murase T, Sugimura Y 2002 Role of ghrelin in the regulation of vasopressin release in conscious rats. Endocrinology 143:1589-1593
    • (2002) Endocrinology , vol.143 , pp. 1589-1593
    • Ishizaki, S.1    Murase, T.2    Sugimura, Y.3
  • 21
    • 0344393059 scopus 로고    scopus 로고
    • Regulation of vasopressin gene expression by cAMP and glucocorticoids in parvocellular neurons of the paraventricular nucleus in rat hypothalamic organotypic cultures
    • Kuwahara S, Arima H, Banno R 2003 Regulation of vasopressin gene expression by cAMP and glucocorticoids in parvocellular neurons of the paraventricular nucleus in rat hypothalamic organotypic cultures. J Neurosci 23:10231-10237
    • (2003) J Neurosci , vol.23 , pp. 10231-10237
    • Kuwahara, S.1    Arima, H.2    Banno, R.3
  • 22
    • 0345354679 scopus 로고    scopus 로고
    • Monoaminergic control of vasopressin and VIP expression in the mouse suprachiasmatic nucleus
    • Vacher CM, Fretier P, Creminon C 2003 Monoaminergic control of vasopressin and VIP expression in the mouse suprachiasmatic nucleus. J Neurosci Res 71:791-801
    • (2003) J Neurosci Res , vol.71 , pp. 791-801
    • Vacher, C.M.1    Fretier, P.2    Creminon, C.3
  • 23
    • 0036763499 scopus 로고    scopus 로고
    • Nitrergic modulation of vasopressin, oxytocin and atrial natriuretic peptide secretion in response to sodium intake and hypertonic blood volume expansion
    • Ventura RR, Gomes DA, Reis WL 2002 Nitrergic modulation of vasopressin, oxytocin and atrial natriuretic peptide secretion in response to sodium intake and hypertonic blood volume expansion. Braz J Med Biol Res 35:1101-1109
    • (2002) Braz J Med Biol Res , vol.35 , pp. 1101-1109
    • Ventura, R.R.1    Gomes, D.A.2    Reis, W.L.3
  • 24
    • 0031025127 scopus 로고    scopus 로고
    • Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1→Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor
    • Repaske DR, Medlej R, Gultekin EK 1997 Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1→Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. J Clin Endocrinol Metab 82:51-56
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 51-56
    • Repaske, D.R.1    Medlej, R.2    Gultekin, E.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.