메뉴 건너뛰기




Volumn 8, Issue 12, 1997, Pages 1855-1862

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; AQUAPORIN 2; UNCLASSIFIED DRUG; VASOPRESSIN V2 RECEPTOR;

EID: 0031429315     PISSN: 10466673     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (71)

References (40)
  • 1
    • 0003037601 scopus 로고
    • Nephrogenic diabetes insipidus
    • edited by Scriver CR, Beaudet AL, Sly WAS, Valle D, New York, McGraw-Hill
    • Reeves WB, Andreoli TE: Nephrogenic diabetes insipidus. In: The Metabolic Basis of Inherited Disease, 7th Ed., edited by Scriver CR, Beaudet AL, Sly WAS, Valle D, New York, McGraw-Hill, 1995, pp 3045-3070
    • (1995) The Metabolic Basis of Inherited Disease, 7th Ed. , pp. 3045-3070
    • Reeves, W.B.1    Andreoli, T.E.2
  • 5
    • 0028903887 scopus 로고
    • cAMP-dependent phosphorylation stimulates water permeability of aquaporin-collecting duct water channel protein expressed in Xenopus oocytes
    • Kuwahara M, Fushimi YT, Bai L, Marumo F, Sasaki S: cAMP-dependent phosphorylation stimulates water permeability of aquaporin-collecting duct water channel protein expressed in Xenopus oocytes. J Biol Chem 270: 10384-10387, 1995
    • (1995) J Biol Chem , vol.270 , pp. 10384-10387
    • Kuwahara, M.1    Fushimi, Y.T.2    Bai, L.3    Marumo, F.4    Sasaki, S.5
  • 10
    • 0026937176 scopus 로고
    • Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
    • Pan Y, Metzenberg A, Das S, Jing B, Gitschier J: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus. Nat Genet 2: 103-106, 1992
    • (1992) Nat Genet , vol.2 , pp. 103-106
    • Pan, Y.1    Metzenberg, A.2    Das, S.3    Jing, B.4    Gitschier, J.5
  • 14
    • 0027717488 scopus 로고
    • Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus
    • Tsukaguchi H, Matsubara H, Aritaki S, Kimura T, Abe S, Inada M: Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus. Biochem Biophys Res Commun 197: 1000-1010, 1993
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 1000-1010
    • Tsukaguchi, H.1    Matsubara, H.2    Aritaki, S.3    Kimura, T.4    Abe, S.5    Inada, M.6
  • 15
    • 0028180789 scopus 로고
    • Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus
    • Knoers N, van den Ouweland A, Verdijk M, Monnens L, van Oost B: Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus. Kidney Int 46: 170-176, 1994
    • (1994) Kidney Int , vol.46 , pp. 170-176
    • Knoers, N.1    Van Den Ouweland, A.2    Verdijk, M.3    Monnens, L.4    Van Oost, B.5
  • 18
    • 0028110895 scopus 로고
    • Mutations in the vasopressin V2 receptor gene in three families of Italian descent with nephrogenic diabetes insipidus
    • Faà V, Ventruto ML, Loche S, Bozzola M, Podda R, Cao A, Rosatelli MC: Mutations in the vasopressin V2 receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. Hum Mol Genet 3: 1685-1686, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 1685-1686
    • Faà, V.1    Ventruto, M.L.2    Loche, S.3    Bozzola, M.4    Podda, R.5    Cao, A.6    Rosatelli, M.C.7
  • 22
    • 0030030466 scopus 로고    scopus 로고
    • Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus
    • Tajima T, Nakae J, Takekoshi Y, Takahashi Y, Yuri K, Nagashima T, Fujieda K: Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus. Pediatr Res 39: 522-526, 1996
    • (1996) Pediatr Res , vol.39 , pp. 522-526
    • Tajima, T.1    Nakae, J.2    Takekoshi, Y.3    Takahashi, Y.4    Yuri, K.5    Nagashima, T.6    Fujieda, K.7
  • 23
    • 0029883298 scopus 로고    scopus 로고
    • Molecular analysis of X-linked nephrogenic diabetes insipidus
    • Fujiwara TM, Morgan K, Bichet DG: Molecular analysis of X-linked nephrogenic diabetes insipidus. Eur J Endocrinol 134: 675-677, 1996
    • (1996) Eur J Endocrinol , vol.134 , pp. 675-677
    • Fujiwara, T.M.1    Morgan, K.2    Bichet, D.G.3
  • 28
    • 0023856917 scopus 로고
    • Hemodynamic and coagulation responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus
    • Bichet DG, Razi M, Arthus MF, Papukna V, Kortas C, Barjon JN: Hemodynamic and coagulation responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus. N Engl J Med 318: 881-887, 1988
    • (1988) N Engl J Med , vol.318 , pp. 881-887
    • Bichet, D.G.1    Razi, M.2    Arthus, M.F.3    Papukna, V.4    Kortas, C.5    Barjon, J.N.6
  • 29
    • 0023694013 scopus 로고
    • Normal response of factor VIII and von Willebrand factor to 1-desamino-8-D- Argininevasopressin in nephrogenic diabetes insipidus
    • Brenner B, Seligsohn U, Hochberg Z: Normal response of factor VIII and von Willebrand factor to 1-desamino-8-D- argininevasopressin in nephrogenic diabetes insipidus. J Clin Endocrinol Metab 67: 191-193, 1988
    • (1988) J Clin Endocrinol Metab , vol.67 , pp. 191-193
    • Brenner, B.1    Seligsohn, U.2    Hochberg, Z.3
  • 30
    • 0023910224 scopus 로고
    • Two distinct pathophysiological mechanisms in congenital nephrogenic diabetes insipidus
    • Moses AM, Miller JL, Levine MA: Two distinct pathophysiological mechanisms in congenital nephrogenic diabetes insipidus. J Clin Endocrinol Metab 66: 1259-1264, 1988
    • (1988) J Clin Endocrinol Metab , vol.66 , pp. 1259-1264
    • Moses, A.M.1    Miller, J.L.2    Levine, M.A.3
  • 32
    • 0025257532 scopus 로고
    • Fibrinolytic responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus
    • Knoers N, Brommer EJP, Willems H, van Oost BA, Monnens LAH: Fibrinolytic responses to 1-desamino-8-D-arginine-vasopressin in patients with congenital nephrogenic diabetes insipidus. Nephron 54: 322-326, 1990
    • (1990) Nephron , vol.54 , pp. 322-326
    • Knoers, N.1    Brommer, E.J.P.2    Willems, H.3    Van Oost, B.A.4    Monnens, L.A.H.5
  • 33
    • 0026031792 scopus 로고
    • A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney
    • Knoers N, Monnens LAH: A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney. Eur J Pediatr 150: 370-373, 1991
    • (1991) Eur J Pediatr , vol.150 , pp. 370-373
    • Knoers, N.1    Monnens, L.A.H.2
  • 34
    • 0026752763 scopus 로고
    • Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments
    • Knebelman B, Deschenes G, Gros F, Hors MC, Grünfeld JP, Tryggvasson K, Gubler MC: Substitution of arginine for glycine 325 in the collagen α5(IV) chain associated with X-linked Alport syndrome: Characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments. Am J Hum Genet 51: 135-142, 1992
    • (1992) Am J Hum Genet , vol.51 , pp. 135-142
    • Knebelman, B.1    Deschenes, G.2    Gros, F.3    Hors, M.C.4    Grünfeld, J.P.5    Tryggvasson, K.6    Gubler, M.C.7
  • 35
    • 0028307367 scopus 로고
    • Molecular biology of vasopressin receptors
    • Carmichael MC, Kumar R: Molecular biology of vasopressin receptors. Semin Nephrol 14: 341-348, 1994
    • (1994) Semin Nephrol , vol.14 , pp. 341-348
    • Carmichael, M.C.1    Kumar, R.2
  • 37
    • 0029084363 scopus 로고
    • Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus
    • Tsukaguchi H, Matsubara H, Inada M: Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus. Kidney Int 48: 554-562, 1995
    • (1995) Kidney Int , vol.48 , pp. 554-562
    • Tsukaguchi, H.1    Matsubara, H.2    Inada, M.3
  • 38
    • 0025909545 scopus 로고
    • Is testing with dDAVP useful in detecting carriers of the nephrogenic diabetes insipidus gene?
    • Bichet DG, Artus MF, Lonergan M: Is testing with dDAVP useful in detecting carriers of the nephrogenic diabetes insipidus gene? Nephron 58: 372-373, 1991
    • (1991) Nephron , vol.58 , pp. 372-373
    • Bichet, D.G.1    Artus, M.F.2    Lonergan, M.3
  • 39
    • 0027233420 scopus 로고
    • The MIP family of integral membrane channel proteins: Sequence comparisons, evolutionary relationships, reconstructed pathway of evolution, and proposed functional differentiation of the two repeated halves of the proteins
    • Reizer J, Reizer A, Saier MH Jr: The MIP family of integral membrane channel proteins: Sequence comparisons, evolutionary relationships, reconstructed pathway of evolution, and proposed functional differentiation of the two repeated halves of the proteins. Crit Rev Biochem Mol Biol 28: 235-257, 1993
    • (1993) Crit Rev Biochem Mol Biol , vol.28 , pp. 235-257
    • Reizer, J.1    Reizer, A.2    Saier M.H., Jr.3
  • 40
    • 0029883930 scopus 로고    scopus 로고
    • Structure of aquaporin-2 vasopressin water channel
    • Bai L, Fushimi K, Sasaki S, Marumo F: Structure of aquaporin-2 vasopressin water channel. J Biol Chem 271: 5171-5176, 1996
    • (1996) J Biol Chem , vol.271 , pp. 5171-5176
    • Bai, L.1    Fushimi, K.2    Sasaki, S.3    Marumo, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.