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Volumn 111, Issue 109, 2003, Pages 92-95

Autosomal dominant familial neurohypophyseal diabetes insipidus

Author keywords

AVP gene; Diabetes insipidus; Endoplasmic reticulum; Neurohypophyseal; Retention

Indexed keywords

ARGIPRESSIN; HORMONE PRECURSOR; MUTANT PROTEIN; NEUROPHYSIN; PROTEIN;

EID: 0038339537     PISSN: 0903465X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (15)

References (20)
  • 1
  • 3
    • 0026011671 scopus 로고
    • Hereditary diabetes insipidus: An immunohistochemical study of the hypothalamus and pituitary gland
    • Bergeron C, Kovacs K, Ezrin C, Mizzen C. Hereditary diabetes insipidus: an immunohistochemical study of the hypothalamus and pituitary gland. Acta Neuropathol (Berl) 1991;81:345-348.
    • (1991) Acta Neuropathol (Berl) , vol.81 , pp. 345-348
    • Bergeron, C.1    Kovacs, K.2    Ezrin, C.3    Mizzen, C.4
  • 4
    • 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. J Biol Chem 1985;260:10236-10241.
    • (1985) J Biol Chem , vol.260 , pp. 10236-10241
    • Sausville, E.1    Carney, D.2    Battey, J.3
  • 5
    • 0036236722 scopus 로고    scopus 로고
    • Identification of a novel mutation in the arginine vasopressin- neurophysin II gene in familial central diabetes insipidus
    • Bullmann C, Kotzka J, Grimm T, Heppner C, Jockenhovel F, Krone W et al. Identification of a novel mutation in the arginine vasopressin- neurophysin II gene in familial central diabetes insipidus. Exp Clin Endocrinol Diabetes 2002;110:134-137.
    • (2002) Exp Clin Endocrinol Diabetes , vol.110 , pp. 134-137
    • Bullmann, C.1    Kotzka, J.2    Grimm, T.3    Heppner, C.4    Jockenhovel, F.5    Krone, 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 et al. 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 2002;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
  • 7
    • 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. 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 2002;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
  • 8
    • 0036395154 scopus 로고    scopus 로고
    • A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus
    • Santiprabhob J, Browning J, Repaske D. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 2002;77:112-118.
    • (2002) Mol Genet Metab , vol.77 , pp. 112-118
    • Santiprabhob, J.1    Browning, J.2    Repaske, D.3
  • 9
    • 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, Yang D, Chang WR, Furey WFJ et al. 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 U S A 1991;88:4240-4244.
    • (1991) Proc Natl Acad Sci U S A , vol.88 , pp. 4240-4244
    • Chen, L.Q.1    Rose, J.P.2    Breslow, E.3    Yang, D.4    Chang, W.R.5    Furey, W.F.J.6
  • 10
    • 0024985447 scopus 로고
    • Molecular, thermodynamic, and biological aspects of recognition and function in neurophysin-hormone systems: A model system for the analysis of protein-peptide interactions
    • Breslow E, Burman S. Molecular, thermodynamic, and biological aspects of recognition and function in neurophysin-hormone systems: a model system for the analysis of protein-peptide interactions. Adv Enzymol Relat Areas Mol Biol 1990;63:1-67:1-67.
    • (1990) Adv Enzymol Relat Areas Mol Biol , vol.63 , pp. 1-67
    • Breslow, E.1    Burman, S.2
  • 11
    • 0030953631 scopus 로고    scopus 로고
    • Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum
    • Ito M, Jameson JL. Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. J Clin Invest 1997;99:1897-1905.
    • (1997) J Clin Invest , vol.99 , pp. 1897-1905
    • Ito, M.1    Jameson, J.L.2
  • 12
    • 0029801679 scopus 로고    scopus 로고
    • Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: Defective transport of a mutant protein from patients with familial diabetes insipidus
    • Olias G, Richter D, Schmale H. Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. DNA Cell Biol 1996;15:929-935.
    • (1996) DNA Cell Biol , vol.15 , pp. 929-935
    • Olias, G.1    Richter, D.2    Schmale, H.3
  • 13
    • 0033516578 scopus 로고    scopus 로고
    • Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus
    • Beuret N, Rutishauser J, Bider MD, Spiess M. Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus. J Biol Chem 1999;274:18965-18972.
    • (1999) J Biol Chem , vol.274 , pp. 18965-18972
    • Beuret, N.1    Rutishauser, J.2    Bider, M.D.3    Spiess, M.4
  • 14
    • 0033334318 scopus 로고    scopus 로고
    • Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation
    • Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS et al. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab 1999;84:2933-2941.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2933-2941
    • Siggaard, C.1    Rittig, S.2    Corydon, T.J.3    Andreasen, P.H.4    Jensen, T.G.5    Andresen, B.S.6
  • 15
    • 0033597771 scopus 로고    scopus 로고
    • Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting
    • Nijenhuis M, Zalm R, Burbach JP. Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J Biol Chem 1999;274:21200-21208.
    • (1999) J Biol Chem , vol.274 , pp. 21200-21208
    • Nijenhuis, M.1    Zalm, R.2    Burbach, J.P.3
  • 16
    • 0034715063 scopus 로고    scopus 로고
    • Burbach JR A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum
    • Nijenhuis M, Zalm R, Burbach JR A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum. Mol Cell Endocrinol 2000;167:55-67.
    • (2000) Mol Cell Endocrinol , vol.167 , pp. 55-67
    • Nijenhuis, M.1    Zalm, R.2
  • 17
    • 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
    • Nijenhuis M, van den Akker EL, Zalm R, Franken AA, Abbes AP, Engel H et al. 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. J Clin Endocrinol Metab 2001;86:3410-3420.
    • (2001) J Clin Endocrinol Metab , 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
  • 19
    • 0036668073 scopus 로고    scopus 로고
    • Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene
    • Davies J, Murphy D. Autophagy in hypothalamic neurones of rats expressing a familial neurohypophysial diabetes insipidus transgene. J Neuroendocrinol 2002;14:629-637.
    • (2002) J Neuroendocrinol , vol.14 , pp. 629-637
    • Davies, J.1    Murphy, D.2
  • 20
    • 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
    • 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. J Biol Chem 1999;274:9029-9037.
    • (1999) J Biol Chem , vol.274 , pp. 9029-9037
    • Ito, M.1    Yu, R.N.2    Jameson, J.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.