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Volumn 5, Issue 2, 1996, Pages 162-165

Recent advances in the molecular genetics of hypertension

Author keywords

[No Author keywords available]

Indexed keywords

MINERALOCORTICOID;

EID: 0029943689     PISSN: 10624821     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041552-199603000-00011     Document Type: Review
Times cited : (13)

References (31)
  • 1
    • 0001182641 scopus 로고
    • A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion
    • Liddle GW, Bledsoe T, Coppage WS: A familial renal disorder simulating primary aldosteronism but with negligible aldosterone secretion. Trans Assoc Am Physicians 1963, 76:199-213.
    • (1963) Trans Assoc Am Physicians , vol.76 , pp. 199-213
    • Liddle, G.W.1    Bledsoe, T.2    Coppage, W.S.3
  • 2
    • 0027946089 scopus 로고
    • Liddle's syndrome: Heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel
    • Shimkets RA, Warnock DG, Bositis CM, Nelson-Williams C, Hansson HH, Schambelan M, Gill JR Jr, Ulick S, Milora RV, Findling JW et al.: Liddle's syndrome: heritable human hypertension caused by mutations in the β subunit of the epithelial sodium channel. Cell 1994, 79:407-418. Linkage analysis with Liddle's original kindred extended revealed highly significant linkage to the epithelial sodium channel β subunit. A premature stop codon in the carboxyl terminus of this channel gene was completely linked with the disease. Four additional Liddle's syndrome kindreds were shown to harbor non-sense or frameshift mutations in the carboxyl terminus of this channel subunit.
    • (1994) Cell , vol.79 , pp. 407-418
    • Shimkets, R.A.1    Warnock, D.G.2    Bositis, C.M.3    Nelson-Williams, C.4    Hansson, H.H.5    Schambelan, M.6    Gill Jr., J.R.7    Ulick, S.8    Milora, R.V.9    Findling, J.W.10
  • 4
    • 0029046975 scopus 로고
    • A mutation in the epithelial sodium channel causing Liddle's disease increases channel activity in 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's disease increases channel activity in Xenopus laevis oocyte expression system. Proc Natl Acad Sci USA 1995, 92:56699-56703. Expression of epithelial sodium channels containing truncated β and γ subunits constitutively increased channel activity, explaining the pathogenesis of Liddle's syndrome.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 56699-56703
    • Schild, L.1    Canessa, C.M.2    Shimkets, R.A.3    Gautschi, I.4    Lifton, R.P.5    Rossier, B.C.6
  • 5
    • 0029092801 scopus 로고
    • Hypertension caused by a truncated epithelial sodium channel y subunit: Genetic heterogeneity of Liddle's syndrome
    • Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, Lifton R: Hypertension caused by a truncated epithelial sodium channel y subunit: genetic heterogeneity of Liddle's syndrome. Nature Genet 1995, 11:76-80. A patient with Liddle's syndrome and no mutation in the epithelial sodium channel β subunit was shown to have a premature stop codon in the nearby γ subunit, demonstrating genetic heterogeneity of Liddle's syndrome.
    • (1995) Nature Genet , vol.11 , pp. 76-80
    • Hansson, J.H.1    Nelson-Williams, C.2    Suzuki, H.3    Schild, L.4    Shimkets, R.5    Lu, Y.6    Canessa, C.7    Iwasaki, T.8    Rossier, B.9    Lifton, R.10
  • 6
    • 0029586683 scopus 로고
    • A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome and identifies a proline-rich segment of the protein critical for regulation of channel activity
    • Hansson J, Schild L, Lu Y, Wilson T, Gautschi I, Shimkets R, Canessa C, Nelson-Williams C, Rossier B, Lifton R: A de novo missense mutation of the β subunit of the epithelial sodium channel causes hypertension and Liddle's syndrome and identifies a proline-rich segment of the protein critical for regulation of channel activity. Proc Natl Acad Sci USA 1995, 92:11495-11499. A de-novo point mutation in the β subunit of the epithelial sodium channel pinpoints a critical residue for normal negative regulation of channel activity.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 11495-11499
    • Hansson, J.1    Schild, L.2    Lu, Y.3    Wilson, T.4    Gautschi, I.5    Shimkets, R.6    Canessa, C.7    Nelson-Williams, C.8    Rossier, B.9    Lifton, R.10
  • 7
    • 0023221667 scopus 로고
    • Cloning of human mineralocorticoid receptor complimentary DNA: Structural and functional kinship with the glucocorticoid receptor
    • Arriza JL, Weinberger C, Cerelli G, Glaser TM, Handelin BL, Hausman DE, Evans RM: Cloning of human mineralocorticoid receptor complimentary DNA: structural and functional kinship with the glucocorticoid receptor. Science 1987, 237:268-275.
    • (1987) Science , vol.237 , pp. 268-275
    • Arriza, J.L.1    Weinberger, C.2    Cerelli, G.3    Glaser, T.M.4    Handelin, B.L.5    Hausman, D.E.6    Evans, R.M.7
  • 8
    • 0017711792 scopus 로고
    • Evidence for an unidentified steroid in a child with apparent mineralocorticoid excess
    • New MI, Levine L, Biglieri E, Pariera J, Ulick S: Evidence for an unidentified steroid in a child with apparent mineralocorticoid excess. J Clin Endocrinol Metab 1977, 44:924-933.
    • (1977) J Clin Endocrinol Metab , vol.44 , pp. 924-933
    • New, M.I.1    Levine, L.2    Biglieri, E.3    Pariera, J.4    Ulick, S.5
  • 9
    • 0020658534 scopus 로고
    • Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess
    • Oberfield SE, Levine LS, Carey RM, Grier F, Ulick S: Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess. J Clin Endocrinol Metab 1983, 56:332-339.
    • (1983) J Clin Endocrinol Metab , vol.56 , pp. 332-339
    • Oberfield, S.E.1    Levine, L.S.2    Carey, R.M.3    Grier, F.4    Ulick, S.5
  • 11
    • 0018931866 scopus 로고
    • Hypertension in a four-year-old child: Gas chromatographic and mass spectrometric evidence for deficient hepatic metabolism of steroids
    • Shackleton CHL, Honour JW, Dillon MJ, Chantier C, Jones RWA: Hypertension in a four-year-old child: gas chromatographic and mass spectrometric evidence for deficient hepatic metabolism of steroids. J Clin Endocrinol Metab 1980, 50:786-792.
    • (1980) J Clin Endocrinol Metab , vol.50 , pp. 786-792
    • Shackleton, C.H.L.1    Honour, J.W.2    Dillon, M.J.3    Chantier, C.4    Jones, R.W.A.5
  • 12
    • 0028034209 scopus 로고
    • Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type II enzyme
    • Albiston AL, Obeyesekere VR, Smith RE, Krozowski ZS: Cloning and tissue distribution of the human 11 beta-hydroxysteroid dehydrogenase type II enzyme. Mol Cell Endocrinol 1994, 105:11-17.
    • (1994) Mol Cell Endocrinol , vol.105 , pp. 11-17
    • Albiston, A.L.1    Obeyesekere, V.R.2    Smith, R.E.3    Krozowski, Z.S.4
  • 13
    • 0029160972 scopus 로고
    • Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase
    • Mune T, Rogerson FM, Nikkila H, Agarwal AK, White PC: Human hypertension caused by mutations in the kidney isozyme of 11β-hydroxysteroid dehydrogenase. Nature Genet 1995, 10:394-399. Nine patients with AME have been shown to bear deleterious mutations in that gene. Expression of these variants in Chinese hamster ovary cells demonstrated decreased enzymatic activity.
    • (1995) Nature Genet , vol.10 , pp. 394-399
    • Mune, T.1    Rogerson, F.M.2    Nikkila, H.3    Agarwal, A.K.4    White, P.C.5
  • 15
    • 0014660792 scopus 로고
    • Studies on steroid conjugates: IV. Quantitative paper chromatography of urinary corticosteroids in essential hypertension
    • Kornel L, Starnes WR, Hill SR Jr, Hill A: Studies on steroid conjugates: IV. Quantitative paper chromatography of urinary corticosteroids in essential hypertension. J Clin Endocrinol 1969, 29:1608-1617.
    • (1969) J Clin Endocrinol , vol.29 , pp. 1608-1617
    • Kornel, L.1    Starnes, W.R.2    Hill Jr., S.R.3    Hill, A.4
  • 16
    • 0028967443 scopus 로고
    • Evidence of coexisting changes in 11β-hydroxysteroid dehydrogenase and 5β-reductase activity in subjects with untreated essential hypertension
    • Soro A, Ingram MC, Tonolo G, Glorioso N, Frasier R: Evidence of coexisting changes in 11β-hydroxysteroid dehydrogenase and 5β-reductase activity in subjects with untreated essential hypertension. Hypertension 1995, 25:67-70.
    • (1995) Hypertension , vol.25 , pp. 67-70
    • Soro, A.1    Ingram, M.C.2    Tonolo, G.3    Glorioso, N.4    Frasier, R.5
  • 18
    • 0021883201 scopus 로고
    • Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: Corticosteroid metabolite profiles of four patients and their families
    • Shackleton CHL, Rodriguez J, Arteaga E, Lopez JM, Winter JSD: Congenital 11 beta-hydroxysteroid dehydrogenase deficiency associated with juvenile hypertension: corticosteroid metabolite profiles of four patients and their families. Clin Endocrinol 1985, 22:701-712.
    • (1985) Clin Endocrinol , vol.22 , pp. 701-712
    • Shackleton, C.H.L.1    Rodriguez, J.2    Arteaga, E.3    Lopez, J.M.4    Winter, J.S.D.5
  • 21
    • 0029019491 scopus 로고
    • A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-angiotensin system
    • Inoue I, Rohrwasser A, Helin C, Jeunemaitre X, Crain P, Bohlender J, Lifton RP, Corvol P, Ward K, Lalouel JM: A mutation of angiotensinogen in a patient with preeclampsia leads to altered kinetics of the renin-angiotensin system. J Biol Chem 1995, 270:11430-11436. A new variant was discovered in the angiotensinogen gene in a preeclamptic patient; this variant alters the site cleaved by renin and apparently alters the kinetics of the renin-angiotensin system.
    • (1995) J Biol Chem , vol.270 , pp. 11430-11436
    • Inoue, I.1    Rohrwasser, A.2    Helin, C.3    Jeunemaitre, X.4    Crain, P.5    Bohlender, J.6    Lifton, R.P.7    Corvol, P.8    Ward, K.9    Lalouel, J.M.10
  • 24
    • 0028353613 scopus 로고
    • Human SA gene locus as a candidate locus for essential hypertension
    • Iwai N, Ohmichi N, Hanai K, Nakamura Y, Kinoshita M: Human SA gene locus as a candidate locus for essential hypertension. Hypertension 1994, 23:375-380.
    • (1994) Hypertension , vol.23 , pp. 375-380
    • Iwai, N.1    Ohmichi, N.2    Hanai, K.3    Nakamura, Y.4    Kinoshita, M.5
  • 25
    • 0028795150 scopus 로고
    • Lack of evidence for linkage of the endothelial cell nitric oxide synthase gene to essential hypertension
    • Bonnardeuax A, Nadaud S, Charru A, Jeunemaitre X, Corvol P, Soubrier F: Lack of evidence for linkage of the endothelial cell nitric oxide synthase gene to essential hypertension. Circulation 1995, 91:96-102.
    • (1995) Circulation , vol.91 , pp. 96-102
    • Bonnardeuax, A.1    Nadaud, S.2    Charru, A.3    Jeunemaitre, X.4    Corvol, P.5    Soubrier, F.6
  • 28
    • 0028960475 scopus 로고
    • Locus for the inducible, but not constitutive, nitric oxide synthase cosegregates with blood pressure in the Dahl salt-sensitive rat
    • Deng AY, Rapp JP: Locus for the inducible, but not constitutive, nitric oxide synthase cosegregates with blood pressure in the Dahl salt-sensitive rat. J Clin Invest 1995, 95:2170-2177. The genes for two isoforms of NOS were tested for linkage with blood pressure in the Dahl salt-sensitive rat. The inducible enzyme, NOS II, showed evidence for linkage with blood pressure levels.
    • (1995) J Clin Invest , vol.95 , pp. 2170-2177
    • Deng, A.Y.1    Rapp, J.P.2
  • 29
    • 0028894944 scopus 로고
    • A biometrical genome search in rats reveals the multigenic basis of blood pressure variation
    • Schork NJ, Kreiger JE, Trolliet MR, Franchini KG, Koike G, Kreiger EM, Lander ES, Dzau VJ, Jacob HJ: A biometrical genome search in rats reveals the multigenic basis of blood pressure variation. Genome Res 1995, 5:164-172. A genome-wide search for loci contributing to blood pressure in the spontaneously hypertensive rat has revealed six genomic loci contributing in an additive manner to 43% of the variation of blood pressure in these rats.
    • (1995) Genome Res , vol.5 , pp. 164-172
    • Schork, N.J.1    Kreiger, J.E.2    Trolliet, M.R.3    Franchini, K.G.4    Koike, G.5    Kreiger, E.M.6    Lander, E.S.7    Dzau, V.J.8    Jacob, H.J.9
  • 30
    • 0028944631 scopus 로고
    • Genetic control of blood pressure and the angiotensinogen locus
    • Hodgin JB, Best CF, Jennette JC, Coffman TM, Maeda N, Smithies O: Genetic control of blood pressure and the angiotensinogen locus. Proc Natl Acad Sci U S A 1995, 92:2735-2739. The modulation of copy number of native angiotensinogen genes in rats has revealed an almost linear contribution of gene copy number with angiotensinogen levels and blood pressure.
    • (1995) Proc Natl Acad Sci U S A , vol.92 , pp. 2735-2739
    • Hodgin, J.B.1    Best, C.F.2    Jennette, J.C.3    Coffman, T.M.4    Maeda, N.5    Smithies, O.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.