-
1
-
-
0034817342
-
Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II)
-
Fluck CE, Deladoey J, Nayak S, Zeller O, Kopp P, Mullis PE (2001) Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). Eur J Endocrinol 145(4):439-444
-
(2001)
Eur J Endocrinol
, vol.145
, Issue.4
, pp. 439-444
-
-
Fluck, C.E.1
Deladoey, J.2
Nayak, S.3
Zeller, O.4
Kopp, P.5
Mullis, P.E.6
-
2
-
-
0028038337
-
Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4
-
Polymeropoulos MH, Swift RG, Swift M (1994) Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nat Genet 8(1):95-97
-
(1994)
Nat Genet
, vol.8
, Issue.1
, pp. 95-97
-
-
Polymeropoulos, M.H.1
Swift, R.G.2
Swift, M.3
-
3
-
-
17344362695
-
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
-
Inoue H, Tanizawa Y, Wasson J, Behn P, Kalidas K, BernalMizrachi E et al (1998) A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Nat Genet 20(2):143-148
-
(1998)
Nat Genet
, vol.20
, Issue.2
, pp. 143-148
-
-
Inoue, H.1
Tanizawa, Y.2
Wasson, J.3
Behn, P.4
Kalidas, K.5
Bernalmizrachi, E.6
-
4
-
-
0026683895
-
The human gene for oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization
-
Rao VV, Loffler C, Battey J, Hansmann I (1992) The human gene for oxytocin-neurophysin I (OXT) is physically mapped to chromosome 20p13 by in situ hybridization. Cytogenet Cell Genet 61(4):271-273
-
(1992)
Cytogenet Cell Genet
, vol.61
, Issue.4
, pp. 271-273
-
-
Rao, V.V.1
Loffler, C.2
Battey, J.3
Hansmann, I.4
-
5
-
-
0025344530
-
Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus
-
Repaske DR, Phillips JA 3rd, Kirby LT, Tze WJ, D’Ercole AJ, Battey J (1990) Molecular analysis of autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 70(3):752-757
-
(1990)
J Clin Endocrinol Metab
, vol.70
, Issue.3
, pp. 752-757
-
-
Repaske, D.R.1
Phillips, J.A.2
Kirby, L.T.3
Tze, W.J.4
D’Ercole, A.J.5
Battey, J.6
-
6
-
-
0022385108
-
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 (1985) The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J Biol Chem 260(18):10236-10241
-
(1985)
J Biol Chem
, vol.260
, Issue.18
, pp. 10236-10241
-
-
Sausville, E.1
Carney, D.2
Battey, J.3
-
7
-
-
84887579237
-
-
Crumley J, Bichet D, Morgan K, Arthus MF, Binette D, Lema J, Lonergan M, Michaud A, Turner M, Tzenova J, Yan R. Nephrogenic and neurogenic diabetes insipidus
-
Nephrogenic and Neurogenic Diabetes Insipidus
-
-
Crumley, J.1
Bichet, D.2
Morgan, K.3
Arthus, M.F.4
Binette, D.5
Lema, J.6
Lonergan, M.7
Michaud, A.8
Turner, M.9
Tzenova, J.10
Yan, R.11
-
8
-
-
0032805975
-
Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin
-
Willcutts MD, Felner E, White PC (1999) Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Human Mol Genet 8(7):1303-1307
-
(1999)
Human Mol Genet
, vol.8
, Issue.7
, pp. 1303-1307
-
-
Willcutts, M.D.1
Felner, E.2
White, P.C.3
-
9
-
-
0020674866
-
Deduced amino acid sequence from the bovine oxytocin-neurophysin I precursor cDNA
-
Land H, Grez M, Ruppert S, Schmale H, Rehbein M, Richter D et al (1983) Deduced amino acid sequence from the bovine oxytocin-neurophysin I precursor cDNA. Nature 302(5906):342-344
-
(1983)
Nature
, vol.302
, Issue.5906
, pp. 342-344
-
-
Land, H.1
Grez, M.2
Ruppert, S.3
Schmale, H.4
Rehbein, M.5
Richter, D.6
-
10
-
-
0020069261
-
Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressinneurophysin II precursor
-
Land H, Schutz G, Schmale H, Richter D (1982) Nucleotide sequence of cloned cDNA encoding bovine arginine vasopressinneurophysin II precursor. Nature 295(5847):299-303
-
(1982)
Nature
, vol.295
, Issue.5847
, pp. 299-303
-
-
Land, H.1
Schutz, G.2
Schmale, H.3
Richter, D.4
-
11
-
-
0018900882
-
Synthesis, transport, and release of posterior pituitary hormones
-
Brownstein MJ, Russell JT, Gainer H (1980) Synthesis, transport, and release of posterior pituitary hormones. Science 207(4429): 373-378
-
(1980)
Science
, vol.207
, Issue.4429
, pp. 373-378
-
-
Brownstein, M.J.1
Russell, J.T.2
Gainer, H.3
-
12
-
-
0023723001
-
Structural requirements of peptide hormone binding for peptide-potentiated self-association of bovine neurophysin II
-
Fassina G, Chaiken IM (1988) Structural requirements of peptide hormone binding for peptide-potentiated self-association of bovine neurophysin II. J Biol Chem 263(27):13539-13543
-
(1988)
J Biol Chem
, vol.263
, Issue.27
, pp. 13539-13543
-
-
Fassina, G.1
Chaiken, I.M.2
-
13
-
-
0020492984
-
Binding of neurohypophyseal peptides to neurophysin dimer promotes formation of compact and spherical complexes
-
Rholam M, Nicolas P, Cohen P (1982) Binding of neurohypophyseal peptides to neurophysin dimer promotes formation of compact and spherical complexes. Biochemistry 21(20):4968-4973
-
(1982)
Biochemistry
, vol.21
, Issue.20
, pp. 4968-4973
-
-
Rholam, M.1
Nicolas, P.2
Cohen, P.3
-
14
-
-
0347600942
-
A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressinproducing neurons
-
Russell TA, Ito M, Yu RN, Martinson FA, Weiss J, Jameson JL (2003) A murine model of autosomal dominant neurohypophyseal diabetes insipidus reveals progressive loss of vasopressinproducing neurons. J Clin Invest 112(11):1697-1706
-
(2003)
J Clin Invest
, vol.112
, Issue.11
, pp. 1697-1706
-
-
Russell, T.A.1
Ito, M.2
Yu, R.N.3
Martinson, F.A.4
Weiss, J.5
Jameson, J.L.6
-
15
-
-
0033605653
-
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 (1999) Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins. J Biol Chem 274(13):9029-9037
-
(1999)
J Biol Chem
, vol.274
, Issue.13
, pp. 9029-9037
-
-
Ito, M.1
Yu, R.N.2
Jameson, J.L.3
-
16
-
-
0030953631
-
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 (1997) 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 99(8):1897-1905
-
(1997)
J Clin Invest
, vol.99
, Issue.8
, pp. 1897-1905
-
-
Ito, M.1
Jameson, J.L.2
-
17
-
-
4544278346
-
Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus
-
Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L et al (2004) Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 89(9):4521-4531
-
(2004)
J Clin Endocrinol Metab
, vol.89
, Issue.9
, pp. 4521-4531
-
-
Christensen, J.H.1
Siggaard, C.2
Corydon, T.J.3
Robertson, G.L.4
Gregersen, N.5
Bolund, L.6
-
18
-
-
0842330810
-
Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus
-
Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L et al (2004) Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. Clin Endocrinol (Oxf) 60(1):125-136
-
(2004)
Clin Endocrinol (Oxf)
, vol.60
, Issue.1
, pp. 125-136
-
-
Christensen, J.H.1
Siggaard, C.2
Corydon, T.J.3
Robertson, G.L.4
Gregersen, N.5
Bolund, L.6
-
19
-
-
0033334318
-
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 (1999) 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 84(8):2933-2941
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.8
, pp. 2933-2941
-
-
Siggaard, C.1
Rittig, S.2
Corydon, T.J.3
Reasen, P.H.4
Jensen, T.G.5
Resen, B.S.6
-
20
-
-
0141728373
-
Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene
-
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(4):511-518
-
(2003)
Clin Endocrinol (Oxf)
, vol.59
, Issue.4
, 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
-
22
-
-
0031765316
-
Identification of mutations of the arginine vasopressinneurophysin II gene in two kindreds with familial central diabetes insipidus
-
Heppner C, Kotzka J, Bullmann C, Krone W, Muller-Wieland D (1998) Identification of mutations of the arginine vasopressinneurophysin II gene in two kindreds with familial central diabetes insipidus. J Clin Endocrinol Metab 83(2):693-696
-
(1998)
J Clin Endocrinol Metab
, vol.83
, Issue.2
, pp. 693-696
-
-
Heppner, C.1
Kotzka, J.2
Bullmann, C.3
Krone, W.4
Muller-Wieland, D.5
-
23
-
-
0030670882
-
Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23 -[Val in neurophysin II
-
Gagliardi PC, Bernasconi S, Repaske DR (1997) Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23 -[Val in neurophysin II. J Clin Endocrinol Metab 82(11):3643-3646
-
(1997)
J Clin Endocrinol Metab
, vol.82
, Issue.11
, pp. 3643-3646
-
-
Gagliardi, P.C.1
Bernasconi, S.2
Repaske, D.R.3
-
24
-
-
55949113832
-
Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus
-
Chitturi S, Harris M, Thomsett MJ, Bowling F, McGown I, Cowley D et al (2008) Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. Clin Endocrinol (Oxf) 69(6):926-930
-
(2008)
Clin Endocrinol (Oxf)
, vol.69
, Issue.6
, pp. 926-930
-
-
Chitturi, S.1
Harris, M.2
Thomsett, M.J.3
Bowling, F.4
McGown, I.5
Cowley, D.6
-
25
-
-
0033304590
-
Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus
-
Leger J, Velasquez A, Garel C, Hassan M, Czernichow P (1999) Thickened pituitary stalk on magnetic resonance imaging in children with central diabetes insipidus. J Clin Endocrinol Metab 84(6):1954-1960
-
(1999)
J Clin Endocrinol Metab
, vol.84
, Issue.6
, pp. 1954-1960
-
-
Leger, J.1
Velasquez, A.2
Garel, C.3
Hassan, M.4
Czernichow, P.5
-
26
-
-
0031722409
-
Suprasellar germinomas in childhood and adolescence: diagnostic pitfalls
-
Ramelli GP, von der Weid N, Stanga Z, Mullis PE, Buergi U (1998) Suprasellar germinomas in childhood and adolescence: diagnostic pitfalls. J Pediatr Endocrinol Metab 11(6):693-697
-
(1998)
J Pediatr Endocrinol Metab
, vol.11
, Issue.6
, pp. 693-697
-
-
Ramelli, G.P.1
Von Der Weid, N.2
Stanga, Z.3
Mullis, P.E.4
Buergi, U.5
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