메뉴 건너뛰기




Volumn 82, Issue 2, 1997, Pages 686-689

Autosomal recessive nephrogenic diabetes insipidus caused by an aquaporin-2 mutation

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN; BLOOD CLOTTING FACTOR 8; DESMOPRESSIN; VASOPRESSIN V2 RECEPTOR; VON WILLEBRAND FACTOR;

EID: 0031026530     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.2.686     Document Type: Article
Times cited : (64)

References (12)
  • 1
    • 0016692418 scopus 로고
    • Mechanism of plasminogen activator and factor VIII increase after vasoactive drugs
    • Mannucci PM, Aberg M, Nilsson IM, Robertson B. 1975 Mechanism of plasminogen activator and factor VIII increase after vasoactive drugs. Br J Haematol. 30:81-93.
    • (1975) Br J Haematol , vol.30 , pp. 81-93
    • Mannucci, P.M.1    Aberg, M.2    Nilsson, I.M.3    Robertson, B.4
  • 2
    • 0026766863 scopus 로고
    • Molecular cloning of the receptor for human antidiuretic hormone
    • Birnbaumer M, Seibold A, Gilbert S, et al. 1992 Molecular cloning of the receptor for human antidiuretic hormone. Nature. 357:333-335.
    • (1992) Nature , vol.357 , pp. 333-335
    • Birnbaumer, M.1    Seibold, A.2    Gilbert, S.3
  • 4
    • 0021874197 scopus 로고
    • Absent factor VIII response to synthetic vasopressin analog (DDAVP) in nephrogenic diabetes insipidus
    • Korbinsky NL, Doyle JJ, Esraels ED, et al. 1985 Absent factor VIII response to synthetic vasopressin analog (DDAVP) in nephrogenic diabetes insipidus. Lancet. 1:1293-1294.
    • (1985) Lancet , vol.1 , pp. 1293-1294
    • Korbinsky, N.L.1    Doyle, J.J.2    Esraels, E.D.3
  • 5
    • 0023694013 scopus 로고
    • Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus
    • Brenner B, Seligsohn U, Hochberg Z. 1988 Normal response of factor VIII and von Willebrand factor to 1-deamino-8D-arginine vasopressin in nephrogenic diabetes insipidus. J Clin Endocrinol Metab. 67:191-193.
    • (1988) J Clin Endocrinol Metab , vol.67 , pp. 191-193
    • Brenner, B.1    Seligsohn, U.2    Hochberg, Z.3
  • 6
    • 0026031792 scopus 로고
    • A variant on nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney
    • Knoers N, Monnens LAH. 1991 A variant on nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney. Eur J Pediatr. 150:370-373.
    • (1991) Eur J Pediatr , vol.150 , pp. 370-373
    • Knoers, N.1    Monnens, L.A.H.2
  • 8
    • 0028088026 scopus 로고
    • Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water channel gene
    • van Lieburg A, Verdijk MAJ, Knoers NVAM, et al. 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.1    Verdijk, M.A.J.2    Knoers, N.V.A.M.3
  • 9
    • 84965428310 scopus 로고
    • Von Willebrand factor antigen and factor XI activity levels mas predictors of bleeding tendency in Israeli patients with von Willebrand's disease
    • Brenner B, Steinberg T, Laor A, et al. 1995 Von Willebrand factor antigen and factor XI activity levels mas predictors of bleeding tendency in Israeli patients with von Willebrand's disease. Clin Appl Throm Hemost. 1:260-264.
    • (1995) Clin Appl Throm Hemost , vol.1 , pp. 260-264
    • Brenner, B.1    Steinberg, T.2    Laor, A.3
  • 10
    • 0017063178 scopus 로고
    • Factor VII related antigen: Measurement by enzyme immunoassay
    • BartlettA, Dormandy KM, Hawkey CM, et al. 1976 Factor VII related antigen: measurement by enzyme immunoassay. Br Med J. 1:994-996.
    • (1976) Br Med J , vol.1 , pp. 994-996
    • Bartlett, A.1    Dormandy, K.M.2    Hawkey, C.M.3
  • 11
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. 1988 A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Ac Res. 16:1215-1222.
    • (1988) Nucl Ac Res , vol.16 , pp. 1215-1222
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 12
    • 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 protein
    • Reizer J, Reizer A, Saier MH. 1993 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 protein. Crit Rev Biochem Mol Biol. 28:235-257.
    • (1993) Crit Rev Biochem Mol Biol , vol.28 , pp. 235-257
    • Reizer, J.1    Reizer, A.2    Saier, M.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.