메뉴 건너뛰기




Volumn 126, Issue 3, 2000, Pages 305-321

The molecular basis of renal tubular transport disorders

Author keywords

AQP2; Aquaporins; Bartter's; Gitelman's; Liddle's; Nephrogenic diabetes insipidus

Indexed keywords

CARRIER PROTEIN;

EID: 0343952980     PISSN: 10956433     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1095-6433(00)00214-2     Document Type: Review
Times cited : (15)

References (97)
  • 2
    • 50849151835 scopus 로고
    • Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis
    • Bartter F.C., Provone P., MacCardle R.C. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. Am. J. Med. 33:1962;811-828.
    • (1962) Am. J. Med. , vol.33 , pp. 811-828
    • Bartter, F.C.1    Provone, P.2    MacCardle, R.C.3
  • 3
    • 0032212881 scopus 로고    scopus 로고
    • Nephrogenic diabetes insipidus
    • Bichet D.G. Nephrogenic diabetes insipidus. Am. J. Med. 105:1998;431-442.
    • (1998) Am. J. Med. , vol.105 , pp. 431-442
    • Bichet, D.G.1
  • 5
    • 0028154726 scopus 로고
    • Brief report: Liddle's syndrome revisited - A disorder of sodium reabsorption in the distal tubule
    • Botero-Velez M., Curtis J.J., Warnock D.G. Brief report: Liddle's syndrome revisited - a disorder of sodium reabsorption in the distal tubule. New Engl. J. Med. 330:1994;178-181.
    • (1994) New Engl. J. Med. , vol.330 , pp. 178-181
    • Botero-Velez, M.1    Curtis, J.J.2    Warnock, D.G.3
  • 7
    • 0024595109 scopus 로고
    • The occurence of nephrogenic diabetes insipidus in domestic fowl
    • Braun E.J., Stallone J.N. The occurence of nephrogenic diabetes insipidus in domestic fowl. Am. J. Physiol. 256:1989;F639-F645.
    • (1989) Am. J. Physiol. , vol.256
    • Braun, E.J.1    Stallone, J.N.2
  • 8
    • 0028833262 scopus 로고
    • Renal response of roosters with diabetes insipidus to infusions of arginine vasotocin
    • Brummermann M., Braun E.J. Renal response of roosters with diabetes insipidus to infusions of arginine vasotocin. Am. J. Physiol. 269:1995;R57-R63.
    • (1995) Am. J. Physiol. , vol.269
    • Brummermann, M.1    Braun, E.J.2
  • 9
    • 0038865469 scopus 로고
    • Methods of determination, assessment of possibility associated traits and evidence for genetic influence of excessive water intake by chickens
    • Buss G.E., Murphy R.R. Methods of determination, assessment of possibility associated traits and evidence for genetic influence of excessive water intake by chickens. Poultry Sci. 44:1965;1358.
    • (1965) Poultry Sci. , vol.44 , pp. 1358
    • Buss, G.E.1    Murphy, R.R.2
  • 10
    • 0027483065 scopus 로고
    • Epithelial sodium channel related to proteins involved in neurodegeneration
    • Canessa C.M., Horisberger J.D., Rossier B.C. 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.D.2    Rossier, B.C.3
  • 12
    • 0030729551 scopus 로고    scopus 로고
    • Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response
    • Canfield M.C., Tamarappoo B.K., Moses A.M., Verkman A.S., Holtzman E.J. Identification and characterization of aquaporin-2 water channel mutations causing nephrogenic diabetes insipidus with partial vasopressin response. Hum. Mol. Genet. 6:1997;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
  • 13
    • 0028968593 scopus 로고
    • Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing
    • Deen P.M., Croes H., van Aubel R.A., Ginsel L.A., van Os C.H. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing. J. Clin. Invest. 95:1995;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
  • 16
    • 15144353151 scopus 로고    scopus 로고
    • A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels
    • Derst C., Wischmeyer E., Preisig-Muller R., Spauschus A., Konrad M., Hensen P., Jeck N., Seyberth H.W., Daut J., Karschin A. A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. J. Biol. Chem. 273:1998;23884-23891.
    • (1998) J. Biol. Chem. , vol.273 , pp. 23884-23891
    • Derst, C.1    Wischmeyer, E.2    Preisig-Muller, R.3    Spauschus, A.4    Konrad, M.5    Hensen, P.6    Jeck, N.7    Seyberth, H.W.8    Daut, J.9    Karschin, A.10
  • 17
    • 0016280404 scopus 로고
    • Cellular action of antidiuretic hormone in mice with inherited vasopressin-resistant urinary concentrating defects
    • Dousa T.P., Valtin H. Cellular action of antidiuretic hormone in mice with inherited vasopressin-resistant urinary concentrating defects. J. Clin. Invest. 54:1974;753-762.
    • (1974) J. Clin. Invest. , vol.54 , pp. 753-762
    • Dousa, T.P.1    Valtin, H.2
  • 18
    • 0014411780 scopus 로고
    • Abnormal water balance in a mutant strain of chickens
    • Dunson W.A., Buss E.G. Abnormal water balance in a mutant strain of chickens. Science. 161:1968;167-169.
    • (1968) Science , vol.161 , pp. 167-169
    • Dunson, W.A.1    Buss, E.G.2
  • 19
    • 0029148045 scopus 로고
    • Renal sodium channels: Regulation and single channel properties
    • Eaton D.C., Becchetti A., Ma H.P., Ling B.N. Renal sodium channels: regulation and single channel properties. Kidney Int. 48:1995;941-949.
    • (1995) Kidney Int. , vol.48 , pp. 941-949
    • Eaton, D.C.1    Becchetti, A.2    Ma, H.P.3    Ling, B.N.4
  • 21
    • 0000447291 scopus 로고
    • Diabetes insipidus associated with oligosyndactyly in the mouse
    • Falconer D.S., Latyszewski M., Issacson J.H. Diabetes insipidus associated with oligosyndactyly in the mouse. Genet. Res. 5:1964;473-488.
    • (1964) Genet. Res. , vol.5 , pp. 473-488
    • Falconer, D.S.1    Latyszewski, M.2    Issacson, J.H.3
  • 22
    • 0027962645 scopus 로고
    • Two binding orientations for peptides to the Src SH3 domain: Development of a general model for SH3-ligand interactions
    • Feng S., Chen K.J., Yu H., Simon J.A., Schreiber S.L. Two binding orientations for peptides to the Src SH3 domain: development of a general model for SH3-ligand interactions. Science. 266:1994;1241-1247.
    • (1994) Science , vol.266 , pp. 1241-1247
    • Feng, S.1    Chen, K.J.2    Yu, H.3    Simon, J.A.4    Schreiber, S.L.5
  • 23
    • 0031919152 scopus 로고    scopus 로고
    • Codependence of renal calcium and sodium transport
    • Friedman P.A. Codependence of renal calcium and sodium transport. Annu. Rev. Physiol. 60:1998;179-197.
    • (1998) Annu. Rev. Physiol. , vol.60 , pp. 179-197
    • Friedman, P.A.1
  • 24
    • 0032998792 scopus 로고    scopus 로고
    • Low aquaporin-2 levels in polyuric DI +/+ severe mice with constitutively high cAMP-phosphodiesterase activity
    • Frokiaer J., Marples D., Valtin H., Morris J.F., Knepper M.A., Nielsen S. Low aquaporin-2 levels in polyuric DI +/+ severe mice with constitutively high cAMP-phosphodiesterase activity. Am. J. Physiol. 276:1999;F179-190.
    • (1999) Am. J. Physiol. , vol.276 , pp. 179-190
    • Frokiaer, J.1    Marples, D.2    Valtin, H.3    Morris, J.F.4    Knepper, M.A.5    Nielsen, S.6
  • 25
    • 0027459174 scopus 로고
    • Cloning and expression of apical membrane water channel of rat kidney collecting tubule
    • Fushimi K., Uchida S., Hara Y., Hirata Y., Marumo F., Sasaki S. Cloning and expression of apical membrane water channel of rat kidney collecting tubule. Nature. 361:1993;549-552.
    • (1993) Nature , vol.361 , pp. 549-552
    • Fushimi, K.1    Uchida, S.2    Hara, Y.3    Hirata, Y.4    Marumo, F.5    Sasaki, S.6
  • 27
    • 0028201013 scopus 로고
    • Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney
    • Gamba G., Miyanoshita A., Lombardi M., Lytton J., Lee W.-S., Hediger M.A., Hebert S.C. Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J. Biol. Chem. 269:1994;17713-17722.
    • (1994) J. Biol. Chem. , vol.269 , pp. 17713-17722
    • Gamba, G.1    Miyanoshita, A.2    Lombardi, M.3    Lytton, J.4    Lee, W.-S.5    Hediger, M.A.6    Hebert, S.C.7
  • 28
    • 0029970059 scopus 로고    scopus 로고
    • Potassium transport: From clearance to channels and pumps
    • Giebisch G., Wang W. Potassium transport: from clearance to channels and pumps. Kidney Int. 49:1996;1624-1631.
    • (1996) Kidney Int. , vol.49 , pp. 1624-1631
    • Giebisch, G.1    Wang, W.2
  • 29
    • 0013976561 scopus 로고
    • A new familial disorder characterized by hypokalemia and hypomagnesmia
    • Gitelman H.J., Graham J.B., Welt L.G. A new familial disorder characterized by hypokalemia and hypomagnesmia. Trans. Assoc. Am. Physicians. 79:1966;221-235.
    • (1966) Trans. Assoc. Am. Physicians , vol.79 , pp. 221-235
    • Gitelman, H.J.1    Graham, J.B.2    Welt, L.G.3
  • 30
    • 0031773249 scopus 로고    scopus 로고
    • 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. Novel mutations in aquaporin-2 gene in female siblings with nephrogenic diabetes insipidus: evidence of disrupted water channel function. J. Clin. Endocrinol. Metab. 83:1998;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
  • 31
    • 0032144244 scopus 로고    scopus 로고
    • Bartter syndrome: Unraveling the pathophysiologic enigma
    • Guay-Woodford L.M. Bartter syndrome: unraveling the pathophysiologic enigma. Am. J. Med. 105:1998;151-161.
    • (1998) Am. J. Med. , vol.105 , pp. 151-161
    • Guay-Woodford, L.M.1
  • 33
    • 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 J.H., Schild L., Lu Y., Wilson T.A., Gautschi I., Shimkets R., Nelson-Williams C., Rossier B.C., Lifton R.P. 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    Wilson, T.A.4    Gautschi, I.5    Shimkets, R.6    Nelson-Williams, C.7    Rossier, B.C.8    Lifton, R.P.9
  • 34
    • 0031711390 scopus 로고    scopus 로고
    • Roles of Na-K-2Cl and Na-Cl cotransporters and ROMK potassium channels in urinary concentrating mechanism
    • Hebert S.C. Roles of Na-K-2Cl and Na-Cl cotransporters and ROMK potassium channels in urinary concentrating mechanism. Am. J. Physiol. 275:1998;F325-F327.
    • (1998) Am. J. Physiol. , vol.275
    • Hebert, S.C.1
  • 37
    • 0026069808 scopus 로고
    • Role of cAMP-phosphodiesterase isozymes in pathogenesis of murine nephrogenic diabetes insipidus
    • Homma S., Gapstur S.M., Coffey A., Valtin H., Dousa T.P. Role of cAMP-phosphodiesterase isozymes in pathogenesis of murine nephrogenic diabetes insipidus. Am. J. Physiol. 261:1991;F345-F353.
    • (1991) Am. J. Physiol. , vol.261
    • Homma, S.1    Gapstur, S.M.2    Coffey, A.3    Valtin, H.4    Dousa, T.P.5
  • 40
    • 8044222737 scopus 로고    scopus 로고
    • Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: Evidence for genetic heterogeneity
    • Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. Hum. Mol. Genet. 6:1997;17-26.
    • (1997) Hum. Mol. Genet. , vol.6 , pp. 17-26
  • 41
    • 0018904117 scopus 로고
    • Cellular action of vasopressin in medullary tubules of mice with hereditary nephrogenic diabetes insipidus
    • Jackson B.A., Edwards R.M., Valtin H., Dousa T.P. Cellular action of vasopressin in medullary tubules of mice with hereditary nephrogenic diabetes insipidus. J. Clin. Invest. 66:1980;110-122.
    • (1980) J. Clin. Invest. , vol.66 , pp. 110-122
    • Jackson, B.A.1    Edwards, R.M.2    Valtin, H.3    Dousa, T.P.4
  • 43
    • 0033522389 scopus 로고    scopus 로고
    • An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus
    • Kamsteeg E.J., Wormhoudt T.A., Rijss J.P., van Os C.H., Deen P.M. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus. EMBO J. 18:1999;2394-2400.
    • (1999) EMBO J. , vol.18 , pp. 2394-2400
    • Kamsteeg, E.J.1    Wormhoudt, T.A.2    Rijss, J.P.3    Van Os, C.H.4    Deen, P.M.5
  • 45
    • 0028360729 scopus 로고
    • Two highly homologous members of the ClC chloride family in both rat and human kidney
    • Kieferle S., Fong P., Bens M., Vandewalle A., Jentsch T.J. Two highly homologous members of the ClC chloride family in both rat and human kidney. Proc. Natl. Acad. Sci. USA. 91:1994;6943-6947.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 6943-6947
    • Kieferle, S.1    Fong, P.2    Bens, M.3    Vandewalle, A.4    Jentsch, T.J.5
  • 46
    • 0030764264 scopus 로고    scopus 로고
    • Molecular physiology of urinary concentrating mechanism: Regulation of aquaporin water channels by vasopressin
    • Knepper M.A. Molecular physiology of urinary concentrating mechanism: regulation of aquaporin water channels by vasopressin. Am. J. Physiol. 272:1997;F3-12.
    • (1997) Am. J. Physiol. , vol.272 , pp. 3-12
    • Knepper, M.A.1
  • 48
    • 0342906773 scopus 로고    scopus 로고
    • Solute and water transport along the nephron: Tubular function
    • R.M. Berne, & M.N. Levy. St. Louis, MO: Mosby
    • Koeppen B.M., Stanton B.A. Solute and water transport along the nephron: tubular function. Berne R.M., Levy M.N. Principles of Physiology. 1996;523-537 Mosby, St. Louis, MO.
    • (1996) Principles of Physiology , pp. 523-537
    • Koeppen, B.M.1    Stanton, B.A.2
  • 51
    • 0015836507 scopus 로고
    • Nephrogenic diabetes insipidus in a dog
    • Lage A.L. Nephrogenic diabetes insipidus in a dog. J. Am. Vet. Med. Assoc. 163:1973;251-253.
    • (1973) J. Am. Vet. Med. Assoc. , vol.163 , pp. 251-253
    • Lage, A.L.1
  • 54
    • 0001182641 scopus 로고
    • A familial renal disorder stimulating primary aldosteronism but with negligible aldosterone secretion
    • Liddle G.W., Bledsoe T., Coppage W.S. Jr A familial renal disorder stimulating 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
  • 58
    • 0030218857 scopus 로고    scopus 로고
    • Molecular cloning, expression pattern and chromosomal localization of the human NaCl thiazide-sensitive cotransporter (SLC12A3)
    • Mastroianni N., De Fusco M., Zollo M., Arrigo G., Zuffardi O., Betinelli A., Ballabio A., Casari G. Molecular cloning, expression pattern and chromosomal localization of the human NaCl thiazide-sensitive cotransporter (SLC12A3). Genomics. 35:1996;486-493.
    • (1996) Genomics , vol.35 , pp. 486-493
    • Mastroianni, N.1    De Fusco, M.2    Zollo, M.3    Arrigo, G.4    Zuffardi, O.5    Betinelli, A.6    Ballabio, A.7    Casari, G.8
  • 59
    • 85081154861 scopus 로고
    • Binding of antidiuretic hormone in renal cell membrane fragments from normal and nephrogenic diabetes insipidus (NDI) domestic fowl
    • (Abst# 4838)
    • McCracken, D.M., Dantzler, W.H., Braun, E.J., 1994. Binding of antidiuretic hormone in renal cell membrane fragments from normal and nephrogenic diabetes insipidus (NDI) domestic fowl. FASEB J. 8, A835 (Abst# 4838).
    • (1994) FASEB J. , vol.8
    • McCracken, D.M.1    Dantzler, W.H.2    Braun, E.J.3
  • 61
    • 0029005859 scopus 로고
    • Cloning and expression of the β- And γ-subunits of the human epithelial sodium channel
    • McDonald F.J., Price M.P., Snyder P.M., Welsh M.J. Cloning and expression of the β- and γ-subunits of the human epithelial sodium channel. Am. J. Physiol. 268:1995;C1157-C1163.
    • (1995) Am. J. Physiol. , vol.268
    • McDonald, F.J.1    Price, M.P.2    Snyder, P.M.3    Welsh, M.J.4
  • 64
    • 0014591209 scopus 로고
    • Hereditary vasopressin-resistant urinary concentrating defects in mice
    • Naik D.V., Valtin H. Hereditary vasopressin-resistant urinary concentrating defects in mice. Am. J. Physiol. 217:1969;1183-1190.
    • (1969) Am. J. Physiol. , vol.217 , pp. 1183-1190
    • Naik, D.V.1    Valtin, H.2
  • 65
    • 0031972413 scopus 로고    scopus 로고
    • The molecular basis of nephrogenic diabetes insipidus
    • Oksche A., Rosenthal W. The molecular basis of nephrogenic diabetes insipidus. J. Mol. Med. 76:1998;326-337.
    • (1998) J. Mol. Med. , vol.76 , pp. 326-337
    • Oksche, A.1    Rosenthal, W.2
  • 66
    • 0029811507 scopus 로고    scopus 로고
    • 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 D.G., Rosenthal W. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus. Hum. Genet. 98:1996;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
  • 68
    • 0028296720 scopus 로고
    • Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney
    • Payne J.A., Forbush B. III Alternatively spliced isoforms of the putative renal Na-K-Cl cotransporter are differentially distributed within the rabbit kidney. Proc. Natl. Acad. Sci. USA. 91:1994;4544-4548.
    • (1994) Proc. Natl. Acad. Sci. USA , vol.91 , pp. 4544-4548
    • Payne, J.A.1    Forbush B. III2
  • 69
    • 0030707887 scopus 로고    scopus 로고
    • Renal magnesium handling: New insights into understanding old problems
    • Quamme G.A. Renal magnesium handling: new insights into understanding old problems. Kidney Int. 52:1997;1180-1195.
    • (1997) Kidney Int. , vol.52 , pp. 1180-1195
    • Quamme, G.A.1
  • 70
    • 0026011281 scopus 로고
    • Diuretics
    • Rose B.D. Diuretics. Kidney Int. 39:1991;336-352.
    • (1991) Kidney Int. , vol.39 , pp. 336-352
    • Rose, B.D.1
  • 73
    • 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 C.M., Shimkets R.A., Gautschi I., Lifton R.P., Rossier B.C. 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
  • 74
    • 0029948974 scopus 로고    scopus 로고
    • Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome
    • Schild L., Lu Y., Gautschi I., Schneeberger E., Lifton R.P., Rossier B.C. Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. EMBO J. 15:1996;2381-2387.
    • (1996) EMBO J. , vol.15 , pp. 2381-2387
    • Schild, L.1    Lu, Y.2    Gautschi, I.3    Schneeberger, E.4    Lifton, R.P.5    Rossier, B.C.6
  • 75
    • 0031803541 scopus 로고    scopus 로고
    • Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment
    • Schwalbe R.A., Bianchi L., Accili E.A., Brown A.M. Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. Hum. Mol. Genet. 7:1998;975-980.
    • (1998) Hum. Mol. Genet. , vol.7 , pp. 975-980
    • Schwalbe, R.A.1    Bianchi, L.2    Accili, E.A.3    Brown, A.M.4
  • 78
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • Simon D.B., Karet F.E., Hamdan J.M., DiPietro A., Sanjad S.A., Lifton R.P. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 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    Dipietro, A.4    Sanjad, S.A.5    Lifton, R.P.6
  • 83
    • 0026482217 scopus 로고
    • Bartter's syndrome: Evidence suggesting a distal tubular defect in a hypocalciuria variant of the syndrome
    • Sutton R., Mavichak V., Halabe A., Wilkins G. Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuria variant of the syndrome. Mineral Electrol. Metab. 18:1992;43-51.
    • (1992) Mineral Electrol. Metab. , vol.18 , pp. 43-51
    • Sutton, R.1    Mavichak, V.2    Halabe, A.3    Wilkins, G.4
  • 84
    • 0032246303 scopus 로고    scopus 로고
    • Successful long-term treatment of congenital nephrogenic diabetes insipidus in a dog
    • Takemura N. Successful long-term treatment of congenital nephrogenic diabetes insipidus in a dog. J. Small Anim. Pract. 39:1998;592-594.
    • (1998) J. Small Anim. Pract. , vol.39 , pp. 592-594
    • Takemura, N.1
  • 86
    • 0032524048 scopus 로고    scopus 로고
    • Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones
    • Tamarappoo B.K., Verkman A.S. Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones. J. Clin. Invest. 101:1998;2257-2267.
    • (1998) J. Clin. Invest. , vol.101 , pp. 2257-2267
    • Tamarappoo, B.K.1    Verkman, A.S.2
  • 87
    • 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 B.C. 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
  • 91
    • 0031429315 scopus 로고    scopus 로고
    • Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus
    • Vargas-Poussou R., Forestier L., Dautzenberg M.D., Niaudet P., Dechaux M., Antignac C. Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus. J. Am. Soc. Nephrol. 8:1997;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
  • 95
    • 0033002039 scopus 로고    scopus 로고
    • Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells
    • Yamauchi K., Fushimi K., Yamashita Y., Shinbo I., Sasaki S., Marumo F. Effects of missense mutations on rat aquaporin-2 in LLC-PK1 porcine kidney cells. Kidney Int. 56:1999;164-171.
    • (1999) Kidney Int. , vol.56 , pp. 164-171
    • Yamauchi, K.1    Fushimi, K.2    Yamashita, Y.3    Shinbo, I.4    Sasaki, S.5    Marumo, F.6
  • 97
    • 0027951056 scopus 로고
    • Primary structure and functional properties of an epithelial K channel
    • Zhou H., Tate S.S., Palmer L.G. Primary structure and functional properties of an epithelial K channel. Am. J. Physiol. 266:1994;C809-C824.
    • (1994) Am. J. Physiol. , vol.266
    • Zhou, H.1    Tate, S.S.2    Palmer, L.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.