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Volumn 9, Issue 3, 1998, Pages 203-212

Molecular genetics in childhood hypertension

Author keywords

Apparent mineralocorticoid excess; Glucocorticoid remediable aldosteronism; Liddle's syndrome

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE; ALDOSTERONE; ALDOSTERONE SYNTHASE; AMILORIDE; CORTICOTROPIN; GLUCOCORTICOID; HYDROCORTISONE; MINERALOCORTICOID; MINERALOCORTICOID RECEPTOR; SODIUM; STEROID 11BETA MONOOXYGENASE;

EID: 0032459346     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1058-9813(99)00007-7     Document Type: Article
Times cited : (1)

References (72)
  • 1
    • 17344366286 scopus 로고    scopus 로고
    • Association of a human G-protein β3 subunit variant with hypertension
    • Siffert W, Rosskopf D, Siffert Get al. Association of a human G-protein β3 subunit variant with hypertension. Nat Genet. 18:1998;45-48.
    • (1998) Nat Genet , vol.18 , pp. 45-48
    • Siffert, W.1    Rosskopf, D.2    Siffert, G.3
  • 3
    • 0014029230 scopus 로고
    • Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone
    • Sutherland DJ, Ruse JL, Laidlaw JC Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J. 95:1966;1109-1119.
    • (1966) Can Med Assoc J , vol.95 , pp. 1109-1119
    • Sutherland, D.J.1    Ruse, J.L.2    Laidlaw, J.C.3
  • 4
    • 0014051406 scopus 로고
    • A new form of congenital adrenal hyperplasia
    • New MI, Peterson RE A new form of congenital adrenal hyperplasia. J Clin Endocrinol Metab. 27:1967;300-305.
    • (1967) J Clin Endocrinol Metab , vol.27 , pp. 300-305
    • New, M.I.1    Peterson, R.E.2
  • 5
    • 0027052962 scopus 로고
    • Glucocorticoid-remediable aldosteronism in a large kindred: Clinical spectrum and diagnosis using a characteristic biochemical phenotype
    • Rich GM, Ulick S, Cook S, Wang JZ, Lifton RP, Dluhy RG Glucocorticoid-remediable aldosteronism in a large kindred: clinical spectrum and diagnosis using a characteristic biochemical phenotype. Ann Intern Med. 116:1992;813-820.
    • (1992) Ann Intern Med , vol.116 , pp. 813-820
    • Rich, G.M.1    Ulick, S.2    Cook, S.3    Wang, J.Z.4    Lifton, R.P.5    Dluhy, R.G.6
  • 6
    • 0026580019 scopus 로고
    • A chimeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
    • Lifton RP, Dluhy RG, Powers Met al. A chimeric 11β-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature. 355:1992;262-265.
    • (1992) Nature , vol.355 , pp. 262-265
    • Lifton, R.P.1    Dluhy, R.G.2    Powers, M.3
  • 7
    • 0026919361 scopus 로고
    • Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase
    • Lifton RP, Dluhy RG, Powers Met al. Hereditary hypertension caused by chimeric gene duplications and ectopic expression of aldosterone synthase. Nat Genet. 2:1992;66-74.
    • (1992) Nat Genet , vol.2 , pp. 66-74
    • Lifton, R.P.1    Dluhy, R.G.2    Powers, M.3
  • 8
    • 0026701168 scopus 로고
    • Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2
    • Pascoe L, Curnow KM, Slutsker Let al. Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B2. Proc Natl Acad Sci USA. 89:1992;8327-8331.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 8327-8331
    • Pascoe, L.1    Curnow, K.M.2    Slutsker, L.3
  • 9
    • 0028883357 scopus 로고
    • Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree
    • Pascoe L, Jeunemaitre X, Lebrethon M-Cet al. Glucocorticoid-suppressible hyperaldosteronism and adrenal tumors occurring in a single French pedigree. J Clin Invest. 96:1995;2236-2246.
    • (1995) J Clin Invest , vol.96 , pp. 2236-2246
    • Pascoe, L.1    Jeunemaitre, X.2    Lebrethon M-C3
  • 10
    • 0031025104 scopus 로고    scopus 로고
    • The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYPB1, into an aldosterone producing enzyme
    • Curnow KM, Mulatero P, Emeric-Blanchouin N, Aupetit-Faisant B, Corvol P, Pascoe L The amino acid substitutions Ser288Gly and Val320Ala convert the cortisol producing enzyme, CYPB1, into an aldosterone producing enzyme. Nat Struct Biol. 4:1997;32-35.
    • (1997) Nat Struct Biol , vol.4 , pp. 32-35
    • Curnow, K.M.1    Mulatero, P.2    Emeric-Blanchouin, N.3    Aupetit-Faisant, B.4    Corvol, P.5    Pascoe, L.6
  • 11
    • 0038611639 scopus 로고
    • Inherited forms of mineralocorticoid hypertension: Glucocorticoid-remediable aldosteronism and the syndrome of apparent mineralocorticoid excess
    • In: Laragh JH, Brenner BM, editors New York: Raven Press
    • Lifton RP, Dluhy RP. Inherited forms of mineralocorticoid hypertension: Glucocorticoid-remediable aldosteronism and the syndrome of apparent mineralocorticoid excess. In: Laragh JH, Brenner BM, editors. Hypertension: Pathophysiology, Diagnosis, and Management. 2nd ed. New York: Raven Press, 1995:2163-2175.
    • (1995) Hypertension: Pathophysiology, Diagnosis, and Management. 2nd Ed. , pp. 2163-2175
    • Lifton, R.P.1    Dluhy, R.P.2
  • 12
    • 0029801755 scopus 로고    scopus 로고
    • Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimerica gene duplication
    • Carroll J, Dluhy R, Fallo Fet al. Aldosterone-producing adenomas do not contain glucocorticoid-remediable aldosteronism chimerica gene duplication. J Clin Endocrinol Metab. 81:1996;4310-4312.
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4310-4312
    • Carroll, J.1    Dluhy, R.2    Fallo, F.3
  • 13
    • 0029047309 scopus 로고
    • Genetic determinants of human hypertension
    • Lifton RP Genetic determinants of human hypertension. Proc Natl Acad Sci USA. 92:1995;8545-8551.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 8545-8551
    • Lifton, R.P.1
  • 14
    • 0028931137 scopus 로고
    • Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure
    • Pascoe L, Curnow KM Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure. Steroids. 60:1995;22-27.
    • (1995) Steroids , vol.60 , pp. 22-27
    • Pascoe, L.1    Curnow, K.M.2
  • 15
    • 0029889118 scopus 로고    scopus 로고
    • Glucocorticoid-remediable aldosteronism
    • Dluhy RG, Williams GH Glucocorticoid-remediable aldosteronism. Cardiovasc Res. 31:1996;870-872.
    • (1996) Cardiovasc Res , vol.31 , pp. 870-872
    • Dluhy, R.G.1    Williams, G.H.2
  • 16
    • 0025847381 scopus 로고
    • A mutation in CYP11B1 (Arg4886→His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin
    • White PC, Dupont J, New MI, Lieberman E, Hochberg Z, Rosler A A mutation in CYP11B1 (Arg4886→His) associated with steroid 11β-hydroxylase deficiency in Jews of Moroccan origin. J Clin Invest. 75:1991;1664-16676.
    • (1991) J Clin Invest , vol.75 , pp. 1664-16676
    • White, P.C.1    Dupont, J.2    New, M.I.3    Lieberman, E.4    Hochberg, Z.5    Rosler, A.6
  • 17
    • 0026481094 scopus 로고
    • Frame shift by insertion of 2 base pairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
    • Helmberg A, Ausserer B, Kofler R Frame shift by insertion of 2 base pairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. J Clin Endocrinol Metab. 75:1992;1278-1281.
    • (1992) J Clin Endocrinol Metab , vol.75 , pp. 1278-1281
    • Helmberg, A.1    Ausserer, B.2    Kofler, R.3
  • 18
    • 0027173431 scopus 로고
    • Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8
    • Curnow KM, Slutsker L, Vitek Jet al. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc Natl Acad Sci USA. 90:1993;4552-4556.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 4552-4556
    • Curnow, K.M.1    Slutsker, L.2    Vitek, J.3
  • 19
    • 0018598286 scopus 로고
    • A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
    • Ulick S, Levine LS, Gunczler Pet al. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab. 49:1979;757-764.
    • (1979) J Clin Endocrinol Metab , vol.49 , pp. 757-764
    • Ulick, S.1    Levine, L.S.2    Gunczler, P.3
  • 20
    • 0023221667 scopus 로고
    • Cloning of human mineralocorticoid receptor complementary DNA: Structural and functional kinship with the glucocorticoid receptor
    • Arriza JL, Weinberger C, Cerelli Get al. Cloning of human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science. 237:1987;268-275.
    • (1987) Science , vol.237 , pp. 268-275
    • Arriza, J.L.1    Weinberger, C.2    Cerelli, G.3
  • 21
    • 0028034209 scopus 로고
    • Cloning and tissue distribution of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme
    • Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS Cloning and tissue distribution of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme. Mol Cell Endocrinol. 105:1994;R11-R17.
    • (1994) Mol Cell Endocrinol , vol.105 , pp. 11-R17
    • Albiston, A.L.1    Obeyesekere, V.R.2    Smith, R.E.3    Krozowski, Z.S.4
  • 22
    • 0029160972 scopus 로고
    • Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase
    • Mune T, Rogerson FM, Nikkilä H, Agarwal AK, White PC Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. Nat Genet. 10:1995;394-399.
    • (1995) Nat Genet , vol.10 , pp. 394-399
    • Mune, T.1    Rogerson, F.M.2    Nikkilä, H.3    Agarwal, A.K.4    White, P.C.5
  • 23
    • 0030049329 scopus 로고    scopus 로고
    • Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene
    • Stewart PM, Krozowski ZS, Gupta Aet al. Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11β-hydroxysteroid dehydrogenase type 2 gene. Lancet. 347:1996;88-91.
    • (1996) Lancet , vol.347 , pp. 88-91
    • Stewart, P.M.1    Krozowski, Z.S.2    Gupta, A.3
  • 24
    • 0030833094 scopus 로고    scopus 로고
    • A new compound heterozygous mutation in the 11β-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess
    • Ktanaka S, Katsumata N, Tanae Aet al. A new compound heterozygous mutation in the 11β-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. J Clin Endocrinol Metab. 82:1997;4054-4058.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 4054-4058
    • Ktanaka, S.1    Katsumata, N.2    Tanae, A.3
  • 25
    • 0029060080 scopus 로고
    • A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
    • Wilson RC, Krozowski ZS, Li Ket al. A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. J Clin Endocrinol Metab. 80:1995;2263-2266.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2263-2266
    • Wilson, R.C.1    Krozowski, Z.S.2    Li, K.3
  • 26
    • 0344798236 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess: Genotype is correlated with biochemical phenotype
    • Mune T, White PC Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. Hypertension. 17:1996;1122-1128.
    • (1996) Hypertension , vol.17 , pp. 1122-1128
    • Mune, T.1    White, P.C.2
  • 27
    • 0030814349 scopus 로고    scopus 로고
    • Mutations in the 11β-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth
    • Krozlowski ZS, Stewart PM, Obeyesekere VR, Li K, Ferrari P Mutations in the 11β-hydroxysteroid dehydrogenase type II enzyme associated with hypertension and possibly stillbirth. Clin Exp Hypertens. 19:1997;519-529.
    • (1997) Clin Exp Hypertens , vol.19 , pp. 519-529
    • Krozlowski, Z.S.1    Stewart, P.M.2    Obeyesekere, V.R.3    Li, K.4    Ferrari, P.5
  • 28
    • 0030921736 scopus 로고    scopus 로고
    • Truncation of the N- And C-terminal regions of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme and effects on solubility and bidirectional enzyme activity
    • Obeyesekere VR, Li KXZ, Ferrari P, Krozowski Z Truncation of the N- and C-terminal regions of the human 11β-hydroxysteroid dehydrogenase type 2 enzyme and effects on solubility and bidirectional enzyme activity. Mol Cell Endocrinol. 131:1997;173-182.
    • (1997) Mol Cell Endocrinol , vol.131 , pp. 173-182
    • Obeyesekere, V.R.1    Li, K.X.Z.2    Ferrari, P.3    Krozowski, Z.4
  • 29
    • 6844237653 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess in a Brazilian kindred: Hypertension in the heterozygote state
    • Li A, Li KXZ, Marui Set al. Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. J Hypertens. 15:1997;1397-1402.
    • (1997) J Hypertens , vol.15 , pp. 1397-1402
    • Li, A.1    Li, K.X.Z.2    Marui, S.3
  • 30
    • 0031046241 scopus 로고    scopus 로고
    • 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess
    • White PC, Mune T, Agarwal AK 11β-hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. Endocrinol Rev. 18:1997;135-156.
    • (1997) Endocrinol Rev , vol.18 , pp. 135-156
    • White, P.C.1    Mune, T.2    Agarwal, A.K.3
  • 31
    • 0029847663 scopus 로고    scopus 로고
    • Inherited forms of mineralocorticoid hypertension
    • White PC Inherited forms of mineralocorticoid hypertension. Hypertension. 28:1996;927-936.
    • (1996) Hypertension , vol.28 , pp. 927-936
    • White, P.C.1
  • 32
    • 0031022385 scopus 로고    scopus 로고
    • Molecular analysis of 11β-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess
    • White PC, Mune T, Rogerson FM, Kayes KM, Agarwal AK Molecular analysis of 11β-hydroxysteroid dehydrogenase and its role in the syndrome of apparent mineralocorticoid excess. Steroids. 62:1997;83-88.
    • (1997) Steroids , vol.62 , pp. 83-88
    • White, P.C.1    Mune, T.2    Rogerson, F.M.3    Kayes, K.M.4    Agarwal, A.K.5
  • 33
    • 0001182641 scopus 로고
    • A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
    • Liddle GW, Bledsoe T, Coppage WS Jr. A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians. 76:1963;199-213.
    • (1963) Trans Assoc Am Physicians , vol.76 , pp. 199-213
    • Liddle, G.W.1    Bledsoe, T.2    Coppage W.S., Jr.3
  • 34
    • 0028154726 scopus 로고
    • Liddle's syndrome revisited. A disorder of sodium reabsorption in the distal tubule
    • Botero-Velez M, Curtis JJ, Warnock DG Liddle's syndrome revisited. A disorder of sodium reabsorption in the distal tubule. N Engl J Med. 330:1994;178-181.
    • (1994) N Engl J Med , vol.330 , pp. 178-181
    • Botero-Velez, M.1    Curtis, J.J.2    Warnock, D.G.3
  • 35
    • 0027483065 scopus 로고
    • Epithelial sodium channel related to proteins involved in neurodegeneration
    • Canessa CM, Horisberger J, Rossier BC Epithelial sodium channel related to proteins involved in neurodegeneration. Nature. 361:1993;467-470.
    • (1993) Nature , vol.361 , pp. 467-470
    • Canessa, C.M.1    Horisberger, J.2    Rossier, B.C.3
  • 37
    • 0008924183 scopus 로고
    • + channel is made up of three homologous subunits
    • + channel is made up of three homologous subunits. Nature. 349:1994;588-593.
    • (1994) Nature , vol.349 , pp. 588-593
    • Cannessa, C.M.1    Schild, L.2    Buell, G.3
  • 38
    • 0027946089 scopus 로고
    • Liddle's syndrome: Heritable hypertension caused by mutations in the β subunit of the epithelial sodium channel
    • Shimkets RA, Warnock DG, Bositis CMet al. Liddle's syndrome: Heritable hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell. 79:1994;407-414.
    • (1994) Cell , vol.79 , pp. 407-414
    • Shimkets, R.A.1    Warnock, D.G.2    Bositis, C.M.3
  • 39
    • 0029046975 scopus 로고
    • A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system
    • Schild L, Canessa CM, Shimkets RA, Gautschi I, Lifton RP, Rossier BC A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system. Proc Natl Acad Sci USA. 92:1995;5699-5703.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5699-5703
    • Schild, L.1    Canessa, C.M.2    Shimkets, R.A.3    Gautschi, I.4    Lifton, R.P.5    Rossier, B.C.6
  • 40
    • 0032127970 scopus 로고    scopus 로고
    • Abnormalities of nasal potential difference measurement in Liddle's syndrome
    • Baker E, Jeunemaitre X, Portal AJet al. Abnormalities of nasal potential difference measurement in Liddle's syndrome. J Clin Invest. 102:1998;10-14.
    • (1998) J Clin Invest , vol.102 , pp. 10-14
    • Baker, E.1    Jeunemaitre, X.2    Portal, A.J.3
  • 41
    • 0029586683 scopus 로고
    • A de novo missense mutation of the β-subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity
    • Hansson JH, Schild L, Lu Yet al. A de novo missense mutation of the β-subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity. Proc Natl Acad Sci USA. 92:1995;11495-11499.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 11495-11499
    • Hansson, J.H.1    Schild, L.2    Lu, Y.3
  • 42
    • 0029918734 scopus 로고    scopus 로고
    • Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene
    • Tamura H, Schild L, Enomoto N, Matsui N, Marumo F, Rossier BC Liddle disease caused by a missense mutation of β subunit of the epithelial sodium channel gene. J Clin Invest. 97:1996;1780-1784.
    • (1996) J Clin Invest , vol.97 , pp. 1780-1784
    • Tamura, H.1    Schild, L.2    Enomoto, N.3    Matsui, N.4    Marumo, F.5    Rossier, B.C.6
  • 43
    • 0031001023 scopus 로고    scopus 로고
    • Liddle's syndrome: Prospective genetic screening and suppressed aldosterone secretion in an extended kindred
    • Findling JW, Raff H, Hansson JH, Lifton RP Liddle's syndrome: Prospective genetic screening and suppressed aldosterone secretion in an extended kindred. J Clin Endocrinol Metab. 82:1997;1071-1074.
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 1071-1074
    • Findling, J.W.1    Raff, H.2    Hansson, J.H.3    Lifton, R.P.4
  • 44
    • 0030928166 scopus 로고    scopus 로고
    • Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome
    • Jeunemaitre X, Bassilana F, Persu Aet al. Genotype-phenotype analysis of a newly discovered family with Liddle's syndrome. J Hypertens. 15:1997;1091-1100.
    • (1997) J Hypertens , vol.15 , pp. 1091-1100
    • Jeunemaitre, X.1    Bassilana, F.2    Persu, A.3
  • 45
    • 0029092801 scopus 로고
    • Hypertension caused by a truncated epithelial sodium channel γ subunit: Genetic heterogeneity of Liddle syndrome
    • Hansson JH, Nelson-Williams C, Suzuki Het al. Hypertension caused by a truncated epithelial sodium channel γ subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 11:1995;76-82.
    • (1995) Nat Genet , vol.11 , pp. 76-82
    • Hansson, J.H.1    Nelson-Williams, C.2    Suzuki, H.3
  • 46
    • 0029874436 scopus 로고    scopus 로고
    • WW domains of Nedd4 bind to the proline-rich PY motif in the epithelial sodium channel deleted in Liddle's syndrome
    • Staub O, Dho S, Henry PCet al. WW domains of Nedd4 bind to the proline-rich PY motif in the epithelial sodium channel deleted in Liddle's syndrome. EMBO J. 15:1996;2371-2380.
    • (1996) EMBO J , vol.15 , pp. 2371-2380
    • Staub, O.1    Dho, S.2    Henry, P.C.3
  • 47
    • 0030451774 scopus 로고    scopus 로고
    • Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: A quantitative approach
    • Firsov D, Schild L, Gautschi I, Mérillat A-M, Schneeberger E, Rossier BC Cell surface expression of the epithelial Na channel and a mutant causing Liddle syndrome: A quantitative approach. Proc Natl Acad Sci USA. 93:1996;15370-15375.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 15370-15375
    • Firsov, D.1    Schild, L.2    Gautschi, I.3    Mérillat A-M4    Schneeberger, E.5    Rossier, B.C.6
  • 48
    • 0029591506 scopus 로고
    • Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial sodium channel
    • Snyder P, Price M, McDonald Fet al. Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial sodium channel. Cell. 83:1995;969-978.
    • (1995) Cell , vol.83 , pp. 969-978
    • Snyder, P.1    Price, M.2    McDonald, F.3
  • 49
    • 0032526243 scopus 로고    scopus 로고
    • Mutations causing Liddle's syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system
    • Kellenberger S, Gautschi I, Rossier BC, Schild L Mutations causing Liddle's syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system. J Clin Invest. 101:1998;2741-2750.
    • (1998) J Clin Invest , vol.101 , pp. 2741-2750
    • Kellenberger, S.1    Gautschi, I.2    Rossier, B.C.3    Schild, L.4
  • 50
    • 0031157578 scopus 로고    scopus 로고
    • 1996 Homer Smith Award Lecture. Cum grano salis: The epithelial sodium channel and the control of blood pressure
    • Rossier BC 1996 Homer Smith Award Lecture. Cum grano salis: The epithelial sodium channel and the control of blood pressure. J Am Soc Nephrol. 8:1997;980-992.
    • (1997) J Am Soc Nephrol , vol.8 , pp. 980-992
    • Rossier, B.C.1
  • 51
  • 52
    • 75949143620 scopus 로고
    • Hypertension and hyperpotassiumemia without renal disease in a young male
    • Paver WK, Pauline GJ Hypertension and hyperpotassiumemia without renal disease in a young male. Med J Aust. 2:1964;305-306.
    • (1964) Med J Aust , vol.2 , pp. 305-306
    • Paver, W.K.1    Pauline, G.J.2
  • 53
    • 0014870575 scopus 로고
    • Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction
    • Gordon RD, Geddes RA, Pawsey CG, O'Halloran MW Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Aust Ann Med. 4:1970;287-294.
    • (1970) Aust Ann Med , vol.4 , pp. 287-294
    • Gordon, R.D.1    Geddes, R.A.2    Pawsey, C.G.3    O'Halloran, M.W.4
  • 54
    • 0019480065 scopus 로고
    • Mineralocorticoid-resistant renal hyperkalaemia without salt wasting (type II pseudohypoaldosteronism): Role of increased renal chloride reabsorption
    • Schambelan M, Sebastian A, Rector FC Mineralocorticoid-resistant renal hyperkalaemia without salt wasting (type II pseudohypoaldosteronism): Role of increased renal chloride reabsorption. Kidney Int. 19:1981;716-727.
    • (1981) Kidney Int , vol.19 , pp. 716-727
    • Schambelan, M.1    Sebastian, A.2    Rector, F.C.3
  • 55
    • 19244386918 scopus 로고    scopus 로고
    • Multilocus linkage of familial hyperkalaemia and hypertension, pseudohyperaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21
    • Mansfield TA, Simon DB, Farfel Z, Bia Met al. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohyperaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nat Genet. 16:1997;202-205.
    • (1997) Nat Genet , vol.16 , pp. 202-205
    • Mansfield, T.A.1    Simon, D.B.2    Farfel, Z.3    Bia, M.4
  • 57
    • 0026669336 scopus 로고
    • Molecular basis of human hypertension: Role of angiotensinogen
    • Jeunemaitre X, Soubrier F, Kotelevtsev YVet al. Molecular basis of human hypertension: Role of angiotensinogen. Cell. 71:1992;169-180.
    • (1992) Cell , vol.71 , pp. 169-180
    • Jeunemaitre, X.1    Soubrier, F.2    Kotelevtsev, Y.V.3
  • 58
    • 9844221411 scopus 로고    scopus 로고
    • Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10
    • Julier C, Delepine M, Keavney Bet al. Genetic susceptibility for human familial essential hypertension in a region of homology with blood pressure linkage on rat chromosome 10. Hum Mol Genet. 6:1997;2077-2086.
    • (1997) Hum Mol Genet , vol.6 , pp. 2077-2086
    • Julier, C.1    Delepine, M.2    Keavney, B.3
  • 59
    • 0027231568 scopus 로고
    • Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
    • Mulligan LM, Kwok JB, Healey CSet al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363:1993;458-460.
    • (1993) Nature , vol.363 , pp. 458-460
    • Mulligan, L.M.1    Kwok, J.B.2    Healey, C.S.3
  • 60
    • 0028174024 scopus 로고
    • A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma
    • Hofstra RM, Landsvater RM, Ceccherini Iet al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 367:1994;319-320.
    • (1994) Nature , vol.367 , pp. 319-320
    • Hofstra, R.M.1    Landsvater, R.M.2    Ceccherini, I.3
  • 61
    • 0026548844 scopus 로고
    • Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndrome
    • Moley JF, Brother MB, Fong CTet al. Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type 2 syndrome. Cancer Res. 52:1992;770-774.
    • (1992) Cancer Res , vol.52 , pp. 770-774
    • Moley, J.F.1    Brother, M.B.2    Fong, C.T.3
  • 62
    • 0027240519 scopus 로고
    • Identification of the von Hippel-Lindau disease tumor suppressor gene
    • Latif F, Tory K, Gnarra Jet al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 260:1993;1317-1320.
    • (1993) Science , vol.260 , pp. 1317-1320
    • Latif, F.1    Tory, K.2    Gnarra, J.3
  • 63
    • 0025935518 scopus 로고
    • Molecular genetics of von Reckinghausen neurofibrommatosis
    • Wallace MR, Collins FS Molecular genetics of von Reckinghausen neurofibrommatosis. Adv Hum Genet. 20:1991;267-307.
    • (1991) Adv Hum Genet , vol.20 , pp. 267-307
    • Wallace, M.R.1    Collins, F.S.2
  • 64
    • 0030140024 scopus 로고    scopus 로고
    • Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
    • Schuster H, Wienker TF, Bähring Set al. Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nat Genet. 13:1996;98-100.
    • (1996) Nat Genet , vol.13 , pp. 98-100
    • Schuster, H.1    Wienker, T.F.2    Bähring, S.3
  • 65
    • 0031030297 scopus 로고    scopus 로고
    • Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family
    • Bähring S, Nagai T, Toka HRet al. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J Hum Genet. 60:1997;732-735.
    • (1997) Am J Hum Genet , vol.60 , pp. 732-735
    • Bähring, S.1    Nagai, T.2    Toka, H.R.3
  • 66
    • 0030698206 scopus 로고    scopus 로고
    • Brachydactyly short stature hypertension (Bilginturan) - Report on two families
    • Chitayat D, Grix A, Balfe JWet al. Brachydactyly short stature hypertension (Bilginturan) - report on two families. Am J Med Genet. 73:1997;279-285.
    • (1997) Am J Med Genet , vol.73 , pp. 279-285
    • Chitayat, D.1    Grix, A.2    Balfe, J.W.3
  • 67
    • 10544250650 scopus 로고    scopus 로고
    • Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension
    • Schuster H, Wienker TF, Toka HRet al. Autosomal dominant hypertension and brachydactyly in a Turkish kindred resembles essential hypertension. Hypertension. 28:1996;1085-1092.
    • (1996) Hypertension , vol.28 , pp. 1085-1092
    • Schuster, H.1    Wienker, T.F.2    Toka, H.R.3
  • 68
    • 17544388677 scopus 로고    scopus 로고
    • Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachdactyly
    • Naraghi R, Schuster H, Toka HRet al. Neurovascular compression at the ventrolateral medulla in autosomal dominant hypertension and brachdactyly. Stroke. 28:1997;1749-1754.
    • (1997) Stroke , vol.28 , pp. 1749-1754
    • Naraghi, R.1    Schuster, H.2    Toka, H.R.3
  • 69
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkylosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NNCC2
    • Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA, Lifton RP Bartter's syndrome, hypokalaemic alkylosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NNCC2. Nat Genet. 13:1996;183-188.
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1    Karet, F.E.2    Hamdan, J.M.3    Di Pietro, A.4    Sanjad, S.A.5    Lifton, R.P.6
  • 70
    • 10544232272 scopus 로고    scopus 로고
    • Association of a mutation in thiazide-sensitive NaCl cotransporter with familial Gitelman's syndrome
    • Takeuchi K, Kure S, Kato Tet al. Association of a mutation in thiazide-sensitive NaCl cotransporter with familial Gitelman's syndrome. J Clin Invest. 81:1996;4496-4499.
    • (1996) J Clin Invest , vol.81 , pp. 4496-4499
    • Takeuchi, K.1    Kure, S.2    Kato, T.3
  • 72
    • 16944366243 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome
    • Simon DB, Bindra RS, Mansfield TAet al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome. Nat Genet. 17:1997;171-178.
    • (1997) Nat Genet , vol.17 , pp. 171-178
    • Simon, D.B.1    Bindra, R.S.2    Mansfield, T.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.