메뉴 건너뛰기




Volumn 165, Issue 1, 2011, Pages 161-165

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin II gene

Author keywords

[No Author keywords available]

Indexed keywords

ARGIPRESSIN; DESMOPRESSIN; NEUROPHYSIN; NEUROPHYSIN 2; UNCLASSIFIED DRUG; ARGIPRESSIN[1 DEAMINO];

EID: 79959465748     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-11-0048     Document Type: Article
Times cited : (15)

References (27)
  • 2
    • 0017764733 scopus 로고
    • Immunocytochemical localization of the vasopressinergic and the oxytocinergic neurons in the human hypothalamus
    • doi:10.1007/BF00220524
    • Dierickx K & Vandesande F. Immunocytochemical localization of the vasopressinergic and the oxytocinergic neurons in the human hypothalamus. Cell Tissue Research 1977 184 15-27. (doi:10.1007/BF00220524)
    • (1977) Cell Tissue Research , vol.184 , pp. 15-27
    • Dierickx, K.1    Vandesande, F.2
  • 3
    • 0022382605 scopus 로고
    • The vasopressin and oxytocin neurons in the human supraoptic and paraventricular nucleus; changes with aging and in senile dementia
    • doi:10.1016/0006-8993(85)91351-4
    • Fliers E, Swaab DF, Pool CW & Verwer RW. The vasopressin and oxytocin neurons in the human supraoptic and paraventricular nucleus; changes with aging and in senile dementia. Brain Research 1985 342 45-53. (doi:10.1016/0006- 8993(85)91351-4)
    • (1985) Brain Research , vol.342 , pp. 45-53
    • Fliers, E.1    Swaab, D.F.2    Pool, C.W.3    Verwer, R.W.4
  • 4
  • 6
    • 0022414894 scopus 로고
    • Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor
    • doi:10.1007/BF01534707
    • Riddell DC, Mallonee R, Phillips JA, Parks JS, Sexton LA & Hamerton JL. Chromosomal assignment of human sequences encoding arginine vasopressin-neurophysin II and growth hormone releasing factor. Somatic Cell and Molecular Genetics 1985 11 189-195. (doi:10.1007/BF01534707)
    • (1985) Somatic Cell and Molecular Genetics , vol.11 , pp. 189-195
    • Riddell, D.C.1    Mallonee, R.2    Phillips, J.A.3    Parks, J.S.4    Sexton, L.A.5    Hamerton, J.L.6
  • 8
    • 0032805975 scopus 로고    scopus 로고
    • Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin
    • doi:10.1093/hmg/8.7.1303
    • Willcutts MD, Felner E & White PC. Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Human Molecular Genetics 1999 8 1303-1307. (doi:10.1093/hmg/8.7.1303)
    • (1999) Human Molecular Genetics , vol.8 , pp. 1303-1307
    • Willcutts, M.D.1    Felner, E.2    White, P.C.3
  • 9
    • 0026567519 scopus 로고
    • A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus
    • Bahnsen U, Oosting P, Swaab DF, Nahke P, Richter D & Schmale H. A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO Journal 1992 11 19-23.
    • (1992) EMBO Journal , vol.11 , pp. 19-23
    • Bahnsen, U.1    Oosting, P.2    Swaab, D.F.3    Nahke, P.4    Richter, D.5    Schmale, H.6
  • 10
    • 0034913945 scopus 로고    scopus 로고
    • 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
    • doi:10.1210/jc.86.7.3410
    • Nijenhuis M, van den Akker EL, Zalm R, Franken AA, Abbes AP, Engel H, de Wied W & Burbach JP. 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. Journal of Clinical Endocrinology and Metabolism 2001 86 3410-3420. (doi:10.1210/jc.86.7.3410)
    • (2001) Journal of Clinical Endocrinology and Metabolism , vol.86 , pp. 3410-3420
    • Nijenhuis, M.1    Van Den Akker, E.L.2    Zalm, R.3    Franken, A.A.4    Abbes, A.P.5    Engel, H.6    De Wied, W.7    Burbach, J.P.8
  • 11
    • 0742323558 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nature Review
    • doi:10.1038/nrm1310
    • Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nature Review. Molecular and Cellular Biology 2004 5 89-99. (doi:10.1038/nrm1310)
    • (2004) Molecular and Cellular Biology , vol.5 , pp. 89-99
    • Maquat, L.E.1
  • 12
    • 0022385108 scopus 로고
    • The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line
    • Sausville E, Carney D & Battey J. The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. Journal of Biological Chemistry 1985 260 10236-10241. (Pubitemid 16246558)
    • (1985) Journal of Biological Chemistry , vol.260 , Issue.18 , pp. 10236-10241
    • Sausville, E.1    Carney, D.2    Battey, J.3
  • 14
    • 0033605653 scopus 로고    scopus 로고
    • Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins
    • doi:10.1074/jbc.274.13.9029
    • Ito M, Yu RN & Jameson JL. Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. Journal of Biological Chemistry 1999 274 9029-9037. (doi:10.1074/jbc.274.13.9029)
    • (1999) Journal of Biological Chemistry , vol.274 , pp. 9029-9037
    • Ito, M.1    Yu, R.N.2    Jameson, J.L.3
  • 15
    • 0036668073 scopus 로고    scopus 로고
    • Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene
    • doi:10.1046/j.1365-2826.2002.00822.x
    • Davies J & Murphy D. Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene. Journal of Neuroendocrinology 2002 14 629-637. (doi:10.1046/j.1365-2826.2002.00822.x)
    • (2002) Journal of Neuroendocrinology , vol.14 , pp. 629-637
    • Davies, J.1    Murphy, D.2
  • 16
    • 0347600942 scopus 로고    scopus 로고
    • A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressinproducing neurons
    • doi:10.1172/JCI18616
    • Russell TA, Ito M, Ito M, Yu RN, Martinson FA, Weiss J & Jameson JL. A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressinproducing neurons. Journal of Clinical Investigation 2003 112 1697-1706. (doi:10.1172/JCI18616)
    • (2003) Journal of Clinical Investigation , vol.112 , pp. 1697-1706
    • Russell, T.A.1    Ito, M.2    Ito, M.3    Yu, R.N.4    Martinson, F.A.5    Weiss, J.6    Jameson, J.L.7
  • 18
    • 0026011671 scopus 로고
    • Hereditary diabetes insipidus: An immunohistochemical study of the hypothalamus and pituitary gland
    • doi:10.1007/BF00305879
    • Bergeron C, Kovacs K, Ezrin C & Mizzen C. Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. Acta Neuropathologica 1991 81 345-348. (doi:10.1007/BF00305879)
    • (1991) Acta Neuropathologica , vol.81 , pp. 345-348
    • Bergeron, C.1    Kovacs, K.2    Ezrin, C.3    Mizzen, C.4
  • 20
    • 0014125477 scopus 로고
    • Hereditary and idiopathic types of diabetes insipidus
    • doi:10.1093/brain/90.3.707
    • Green JR, Buchan GC, Alvord EC Jr & Swanson AG. Hereditary and idiopathic types of diabetes insipidus. Brain 1967 90 707-714. (doi:10.1093/brain/90.3.707)
    • (1967) Brain , vol.90 , pp. 707-714
    • Green, J.R.1    Buchan, G.C.2    Alvord Jr., E.C.3    Swanson, A.G.4
  • 21
    • 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
    • doi:10.1210/jc.87.2.870
    • Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL & Ito M. Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. Journal of Clinical Endocrinology and Metabolism 2002 87 870-876. (doi:10.1210/jc.87.2.870)
    • (2002) Journal of Clinical Endocrinology and Metabolism , 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
  • 22
    • 0027439136 scopus 로고
    • Central nervous system effects of the neurohypophyseal hormones and related peptides
    • doi:10.1006/frne.1993.1009
    • de Wied D, Diamant M & Fodor M. Central nervous system effects of the neurohypophyseal hormones and related peptides. Frontiers in Neuroendocrinology 1993 14 251-302. (doi:10.1006/frne.1993.1009)
    • (1993) Frontiers in Neuroendocrinology , vol.14 , pp. 251-302
    • De Wied, D.1    Diamant, M.2    Fodor, M.3
  • 24
    • 0034964210 scopus 로고    scopus 로고
    • Gene regulation in the magnocellular hypothalamo-neurohypophysial system
    • Burbach JP, Luckman SM, Murphy D & Gainer H. Gene regulation in the magnocellular hypothalamo-neurohypophysial system. Physiological Reviews 2001 81 1197-1267. (Pubitemid 32606669)
    • (2001) Physiological Reviews , vol.81 , Issue.3 , pp. 1197-1267
    • Burbach, J.P.H.1    Luckman, S.M.2    Murphy, D.3    Gainer, H.4
  • 25
    • 0023101453 scopus 로고
    • Diabetes insipidus in pregnancy associated with abnormally high circulating vasopressinase activity
    • doi:10.1056/NEJM198704233161707
    • Durr JA, Hoggard JG, Hunt JM & Schrier RW. Diabetes insipidus in pregnancy associated with abnormally high circulating vasopressinase activity. New England Journal of Medicine 1987 316 1070-1074. (doi:10.1056/ NEJM198704233161707)
    • (1987) New England Journal of Medicine , vol.316 , pp. 1070-1074
    • Durr, J.A.1    Hoggard, J.G.2    Hunt, J.M.3    Schrier, R.W.4
  • 26
    • 66149096242 scopus 로고    scopus 로고
    • Plasma vasopressin, oxytocin, estradiol, and progesterone related to water and sodium excretion in normal pregnancy and gestational hypertension
    • doi:10.1080/00016340902919002
    • Risberg A, Olsson K, Lyrenas S & Sjoquist M. Plasma vasopressin, oxytocin, estradiol, and progesterone related to water and sodium excretion in normal pregnancy and gestational hypertension. Acta Obstetricia et Gynecologica Scandinavica 2009 88 639-646. (doi:10.1080/00016340902919002)
    • (2009) Acta Obstetricia et Gynecologica Scandinavica , vol.88 , pp. 639-646
    • Risberg, A.1    Olsson, K.2    Lyrenas, S.3    Sjoquist, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.