-
1
-
-
0027199067
-
X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis
-
Bichet DG, Arthus MF, Lonergan M, Hendy GN, Paradis AJ, Fujiwara TM, Morgan K, Gregory MC, Rosenthal W, Didwania A, Antaramian A, Birnbaumer M. 1993. X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. J Clin Invest 92:1262-1268.
-
(1993)
J Clin Invest
, vol.92
, pp. 1262-1268
-
-
Bichet, D.G.1
Arthus, M.F.2
Lonergan, M.3
Hendy, G.N.4
Paradis, A.J.5
Fujiwara, T.M.6
Morgan, K.7
Gregory, M.C.8
Rosenthal, W.9
Didwania, A.10
Antaramian, A.11
Birnbaumer, M.12
-
3
-
-
0026766863
-
Molecular cloning of the receptor for human antidiuretic hormone
-
Birnbaumer M, Seibold A, Gilbert S, Ishido M, Barberis C, Antaramian A, Brabet P, Rosenthal W. 1992. Molecular cloning of the receptor for human antidiuretic hormone. Nature 375:333-335.
-
(1992)
Nature
, vol.375
, pp. 333-335
-
-
Birnbaumer, M.1
Seibold, A.2
Gilbert, S.3
Ishido, M.4
Barberis, C.5
Antaramian, A.6
Brabet, P.7
Rosenthal, W.8
-
4
-
-
0025089978
-
Rapid and simple method for purification of nucleic acids
-
Boom R, Sol CA, Salimans MMM, Jansen CL, Wertheim-van-Dillen PME, van der Noordaa J. 1990. Rapid and simple method for purification of nucleic acids. J Clin Microbiol 28:495-503.
-
(1990)
J Clin Microbiol
, vol.28
, pp. 495-503
-
-
Boom, R.1
Sol, C.A.2
Salimans, M.M.M.3
Jansen, C.L.4
Wertheim-Van-Dillen, P.M.E.5
Van Der Noordaa, J.6
-
5
-
-
0030729551
-
Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response
-
Canfield MC, Tamarappoo BK, Moses AM, Verkman AS, Holtzman EJ. 1997. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum Mol Genet 6:1865-1871.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1865-1871
-
-
Canfield, M.C.1
Tamarappoo, B.K.2
Moses, A.M.3
Verkman, A.S.4
Holtzman, E.J.5
-
6
-
-
0028088026
-
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
-
Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA, van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM. 1994a. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 55:648-652.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 648-652
-
-
Deen, P.M.1
Verdijk, M.A.2
Knoers, N.V.3
Wieringa, B.4
Monnens, L.A.5
Van Os, C.H.6
Van Oost, B.A.7
Van Lieburg, A.F.8
Verdijk, M.A.9
Knoers, V.V.10
Van Essen, A.J.11
Proesmans, W.12
Mallmann, R.13
Monnens, L.A.14
Van Oost, B.A.15
Van Os, C.H.16
Deen, P.M.17
-
7
-
-
0028326794
-
Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
-
Deen PM, Verdijk MA, Knoers NV, Wieringa B, Monnens LA, van Os CH, van Oost BA. 1994b. Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine. Science 264:92-95.
-
(1994)
Science
, vol.264
, pp. 92-95
-
-
Deen, P.M.1
Verdijk, M.A.2
Knoers, N.V.3
Wieringa, B.4
Monnens, L.A.5
Van Os, C.H.6
Van Oost, B.A.7
-
8
-
-
0028968593
-
Water channel encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
-
Deen PM, Croes H, van Aubel RA, Ginsel LA, van Os CH. 1995. Water channel encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J Clin Invest 95:2291-2296.
-
(1995)
J Clin Invest
, vol.95
, pp. 2291-2296
-
-
Deen, P.M.1
Croes, H.2
Van Aubel, R.A.3
Ginsel, L.A.4
Van Os, C.H.5
-
9
-
-
0027374596
-
A polymorphism in the coding region of the vasopressin type 2 receptor (V2(R)) gene
-
Friedman E, Carson E, Larsson C, De Marco L. 1993. A polymorphism in the coding region of the vasopressin type 2 receptor (V2(R)) gene. Hum Mol Genet 2:1746.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1746
-
-
Friedman, E.1
Carson, E.2
Larsson, C.3
De Marco, L.4
-
10
-
-
0028059278
-
Nephrogenic diabetes insipidus: An X-chromosome linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal
-
Friedman E, Bale AE, Carson E, Boson WL, Nordenskjold M, Ritzen M, Ferreira PC, Jammal A, De Marco L. 1994. Nephrogenic diabetes insipidus: an X-chromosome linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal. Proc Natl Acad Sci USA 91:8457-8461.
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 8457-8461
-
-
Friedman, E.1
Bale, A.E.2
Carson, E.3
Boson, W.L.4
Nordenskjold, M.5
Ritzen, M.6
Ferreira, P.C.7
Jammal, A.8
De Marco, L.9
-
11
-
-
0031773249
-
Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: Evidence of disrupted water channel function
-
Goji K, Kuwahara M, Gu Y, Matsuo M, Marumo F, Sasaki S. 1998. Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. J Clin Endocrinol Metab 83:3205-3209.
-
(1998)
J Clin Endocrinol Metab
, vol.83
, pp. 3205-3209
-
-
Goji, K.1
Kuwahara, M.2
Gu, Y.3
Matsuo, M.4
Marumo, F.5
Sasaki, S.6
-
12
-
-
0031026530
-
Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation
-
Hochberg Z, Van Lieburg A, Even L, Brenner B, Lanir N, Van Oost BA, Knoers NV. 1997. Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation. J Clin Endocrinol Metab 82:686-68.
-
(1997)
J Clin Endocrinol Metab
, vol.82
, pp. 686-768
-
-
Hochberg, Z.1
Van Lieburg, A.2
Even, L.3
Brenner, B.4
Lanir, N.5
Van Oost, B.A.6
Knoers, N.V.7
-
13
-
-
0031989356
-
Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus
-
Kuwahara M. 1998. Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus. Intern Med 37:215-217.
-
(1998)
Intern Med
, vol.37
, pp. 215-217
-
-
Kuwahara, M.1
-
14
-
-
0028967987
-
Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality
-
Moses AM, Sangani G, Miller JL. 1995. Proposed cause of marked vasopressin resistance in a female with an X-linked recessive V2 receptor abnormality. J Clin Endocrinol Metab 80:1184-1186.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1184-1186
-
-
Moses, A.M.1
Sangani, G.2
Miller, J.L.3
-
15
-
-
0031067089
-
New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels
-
Mulders SM, Knoers NV, Van Lieburg AF, Monnens LA, Leumann E, Wuhl E, Schober E, Rijss JR, Van Os CH, Deen PM. 1997a. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels. J Am Soc Nephrol 8:242-248.
-
(1997)
J Am Soc Nephrol
, vol.8
, pp. 242-248
-
-
Mulders, S.M.1
Knoers, N.V.2
Van Lieburg, A.F.3
Monnens, L.A.4
Leumann, E.5
Wuhl, E.6
Schober, E.7
Rijss, J.R.8
Van Os, C.H.9
Deen, P.M.10
-
16
-
-
0030767575
-
Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes
-
Mulders SM, Rijss JP, Hartog A, Bindels RJ, van Os CH, Deen PM. 1997b. Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes. Am J Physiol 273:F451-F456.
-
(1997)
Am J Physiol
, vol.273
-
-
Mulders, S.M.1
Rijss, J.P.2
Hartog, A.3
Bindels, R.J.4
Van Os, C.H.5
Deen, P.M.6
-
17
-
-
0032128360
-
An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex
-
Mulders SM, Bichet DG, Rijss JP, Kamsteeg EJ, Arthus MF, Lonergan M, Fujiwara M, Morgan K, Leijendekker R, van der Sluijs P, van Os CH, Deen PM. 1998. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex. J Clin Invest 102:57-66.
-
(1998)
J Clin Invest
, vol.102
, pp. 57-66
-
-
Mulders, S.M.1
Bichet, D.G.2
Rijss, J.P.3
Kamsteeg, E.J.4
Arthus, M.F.5
Lonergan, M.6
Fujiwara, M.7
Morgan, K.8
Leijendekker, R.9
Van Der Sluijs, P.10
Van Os, C.H.11
Deen, P.M.12
-
18
-
-
0028177350
-
The application of the restriction site mutation assay to the study of the induction of mutations in the tissues of rodents
-
Myers B, Parry JM. 1994. The application of the restriction site mutation assay to the study of the induction of mutations in the tissues of rodents. Mutagenesis 3:175-177.
-
(1994)
Mutagenesis
, vol.3
, pp. 175-177
-
-
Myers, B.1
Parry, J.M.2
-
19
-
-
0023476285
-
Detection and localization of single base changes by denaturing gradient gel electrophoresis
-
Myers RM, Maniatis T, Lerman LS. 1987. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 155:501-527.
-
(1987)
Methods Enzymol
, vol.155
, pp. 501-527
-
-
Myers, R.M.1
Maniatis, T.2
Lerman, L.S.3
-
20
-
-
0029811507
-
Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus
-
Oksche A, Moller A, Dickson J, Rosendahl W Rascher W, Bichet DG, Rosenthal W. 1996a. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum Genet 98:587-589.
-
(1996)
Hum Genet
, vol.98
, pp. 587-589
-
-
Oksche, A.1
Moller, A.2
Dickson, J.3
Rosendahl, W.4
Rascher, W.5
Bichet, D.G.6
Rosenthal, W.7
-
21
-
-
0029860102
-
Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: Analysis of expression, processing, and function
-
Oksche A, Schulein R, Rutz C, Liebenhoff U, Dickson J, Muller H, Birnbaumer M, Rosenthal W. 1996b. Vasopressin V2 receptor mutants that cause X-linked nephrogenic diabetes insipidus: analysis of expression, processing, and function. Mol Pharmacol 50:820-828.
-
(1996)
Mol Pharmacol
, vol.50
, pp. 820-828
-
-
Oksche, A.1
Schulein, R.2
Rutz, C.3
Liebenhoff, U.4
Dickson, J.5
Muller, H.6
Birnbaumer, M.7
Rosenthal, W.8
-
22
-
-
0032489355
-
Folding and cell surface expression of the vasopressin V2 receptor: Requirement of the intracellular C-terminus
-
Oksche A, Dehe M, Schulein R, Wiesner B, Rosenthal W. 1998. Folding and cell surface expression of the vasopressin V2 receptor: requirement of the intracellular C-terminus. FEBS Lett 424:57-62.
-
(1998)
FEBS Lett
, vol.424
, pp. 57-62
-
-
Oksche, A.1
Dehe, M.2
Schulein, R.3
Wiesner, B.4
Rosenthal, W.5
-
23
-
-
0026937176
-
Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
-
Pan Y, Metzenberg A, Das S, Jing B, Gitschien J. 1992. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet 2:103-106.
-
(1992)
Nat Genet
, vol.2
, pp. 103-106
-
-
Pan, Y.1
Metzenberg, A.2
Das, S.3
Jing, B.4
Gitschien, J.5
-
24
-
-
0031111919
-
A novel polymorphism in the coding region of the vasopressin type 2 receptor gene
-
Rocha JL, Moreira A, Friedman E, Liberman B, Silva BC, De Marco L. 1997. A novel polymorphism in the coding region of the vasopressin type 2 receptor gene. Braz J Med Biol Res 30:443-445.
-
(1997)
Braz J Med Biol Res
, vol.30
, pp. 443-445
-
-
Rocha, J.L.1
Moreira, A.2
Friedman, E.3
Liberman, B.4
Silva, B.C.5
De Marco, L.6
-
25
-
-
0030958017
-
An X-linked NDI mutation reveals a requirement for cell surface V2(R) expression
-
Sadeghi H, Innamorati G, Birnbaumer M. 1997a. An X-linked NDI mutation reveals a requirement for cell surface V2(R) expression. Mol Endocrinol 11:706-713.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 706-713
-
-
Sadeghi, H.1
Innamorati, G.2
Birnbaumer, M.3
-
26
-
-
0030717492
-
Biochemical basis of partial nephrogenic diabetes insipidus phenotypes
-
Sadeghi H, Robertson GL, Bichet DG, Innamorati G, Birnbaumer M. 1997b. Biochemical basis of partial nephrogenic diabetes insipidus phenotypes. Mol Endocrinol 11:1806-1813.
-
(1997)
Mol Endocrinol
, vol.11
, pp. 1806-1813
-
-
Sadeghi, H.1
Robertson, G.L.2
Bichet, D.G.3
Innamorati, G.4
Birnbaumer, M.5
-
27
-
-
0031903345
-
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms
-
Schoneberg T, Schulz A, Biebermann H, Gruters A, Grimm T, Hubschmann K, Filler G, Gudermann T, Schultz G. 1998. V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms. Hum Mutat 12:196-205.
-
(1998)
Hum Mutat
, vol.12
, pp. 196-205
-
-
Schoneberg, T.1
Schulz, A.2
Biebermann, H.3
Gruters, A.4
Grimm, T.5
Hubschmann, K.6
Filler, G.7
Gudermann, T.8
Schultz, G.9
-
28
-
-
0028088026
-
Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene
-
van Lieburg AF, Verdijk MA, Knoers VV, van Essen AJ, Proesmans W, Mallmann R, Monnens LA, van Oost BA, van Os CH, Deen PM. 1994. Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene. Am J Hum Genet 55:648-652.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 648-652
-
-
Van Lieburg, A.F.1
Verdijk, M.A.2
Knoers, V.V.3
Van Essen, A.J.4
Proesmans, W.5
Mallmann, R.6
Monnens, L.A.7
Van Oost, B.A.8
Van Os, C.H.9
Deen, P.M.10
-
29
-
-
0031429315
-
Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus
-
Vargas-Poussou R, Forestier L, Dautzenberg MD, Niaudet P, Dechaux M, Antignac C. 1997. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J Am Soc Nephrol 8:1855-1862.
-
(1997)
J Am Soc Nephrol
, vol.8
, pp. 1855-1862
-
-
Vargas-Poussou, R.1
Forestier, L.2
Dautzenberg, M.D.3
Niaudet, P.4
Dechaux, M.5
Antignac, C.6
-
30
-
-
0030606140
-
Functional characterization of five V2 vasopressin receptor gene mutations
-
Wenkert D, Schoneberg T, Merendino JJ Jr, Rodriguez Pena MS, Vinitszy R, Goldsmith PK, Wess J, Spiegel AM. 1996. Functional characterization of five V2 vasopressin receptor gene mutations. Mol Cell Endocrinol 124:43-50.
-
(1996)
Mol Cell Endocrinol
, vol.124
, pp. 43-50
-
-
Wenkert, D.1
Schoneberg, T.2
Merendino J.J., Jr.3
Rodriguez Pena, M.S.4
Vinitszy, R.5
Goldsmith, P.K.6
Wess, J.7
Spiegel, A.M.8
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