-
2
-
-
0029015997
-
Clinical review 69: Evaluation of hypocalcemia in children and adults
-
Guise, T. A. and Mundy, G. R. (1995) Clinical review 69: Evaluation of hypocalcemia in children and adults. J. Clin. Endocrinol. Metab. 80, 1473-1478
-
(1995)
J. Clin. Endocrinol. Metab
, vol.80
, pp. 1473-1478
-
-
Guise, T.A.1
Mundy, G.R.2
-
4
-
-
0035139184
-
Magnesium transport in the renal distal convoluted tubule
-
Dai, L. J., Ritchie, G., Kerstan, D., Kang, H. S., Cole, D. E. and Quamme, G. A. (2001) Magnesium transport in the renal distal convoluted tubule. Physiol. Rev. 81, 51-84
-
(2001)
Physiol. Rev
, vol.81
, pp. 51-84
-
-
Dai, L.J.1
Ritchie, G.2
Kerstan, D.3
Kang, H.S.4
Cole, D.E.5
Quamme, G.A.6
-
5
-
-
12844288698
-
Calcium absorption across epithelia
-
Hoenderop, J. G., Nilius, B. and Bindels, R. J. (2005) Calcium absorption across epithelia. Physiol. Rev. 85, 373-422
-
(2005)
Physiol. Rev
, vol.85
, pp. 373-422
-
-
Hoenderop, J.G.1
Nilius, B.2
Bindels, R.J.3
-
6
-
-
0019907745
-
Evaluation of a new semiautomatic electrode system for simultaneous measurement of ionized calcium and pH
-
Thode, J., Wandrup, J., Aas, F. and Siggaard-Andersen, O. (1982) Evaluation of a new semiautomatic electrode system for simultaneous measurement of ionized calcium and pH. Scand. J. Clin. Lab. Invest. 42, 407-415
-
(1982)
Scand. J. Clin. Lab. Invest
, vol.42
, pp. 407-415
-
-
Thode, J.1
Wandrup, J.2
Aas, F.3
Siggaard-Andersen, O.4
-
7
-
-
0345659471
-
Renal calcium transport: Sites and insights
-
Friedman, P. A. (1988) Renal calcium transport: sites and insights. News Physiol. Sci. 3, 17-20
-
(1988)
News Physiol. Sci
, vol.3
, pp. 17-20
-
-
Friedman, P.A.1
-
8
-
-
0016415232
-
3H-inulin and electrolyte concentrations in Bowman's capsule in rat kidney. Comparison with artificial ultrafiltration
-
3H-inulin and electrolyte concentrations in Bowman's capsule in rat kidney. Comparison with artificial ultrafiltration. Pflugers Arch. 354, 117-131
-
(1975)
Pflugers Arch
, vol.354
, pp. 117-131
-
-
Grimellec, C.L.1
Poujeol, P.2
Rouffignac, C.3
-
9
-
-
0029056173
-
Cellular calcium transport in renal epithelia: Measurement, mechanisms, and regulation
-
Friedman, P. A. and Gesek, F. A. (1995) Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation. Physiol. Rev. 75, 429-471
-
(1995)
Physiol. Rev
, vol.75
, pp. 429-471
-
-
Friedman, P.A.1
Gesek, F.A.2
-
10
-
-
0343383379
-
Micropuncture study of renal tubular reabsorption of calcium in normal rodents
-
Lassiter, W. E., Gottschalk, C.W. and Mylle, M. (1963) Micropuncture study of renal tubular reabsorption of calcium in normal rodents. Am. J. Physiol. 204, 771-775
-
(1963)
Am. J. Physiol
, vol.204
, pp. 771-775
-
-
Lassiter, W.E.1
Gottschalk, C.W.2
Mylle, M.3
-
11
-
-
0018499901
-
Calcium transport in the nephron
-
Suki, W. N. (1979) Calcium transport in the nephron. Am. J. Physiol. 237, F1-F6
-
(1979)
Am. J. Physiol
, vol.237
-
-
Suki, W.N.1
-
12
-
-
0032957759
-
Renal handling of calcium
-
Seldin, D. W. (1999) Renal handling of calcium. Nephron 81 (Suppl. 1), 2-7
-
(1999)
Nephron
, vol.81
, Issue.SUPPL. 1
, pp. 2-7
-
-
Seldin, D.W.1
-
13
-
-
0014092635
-
Calcium reabsorption in proximal tubule of the dog nephron
-
Duarte, C. G. and Watson, J. F. (1967) Calcium reabsorption in proximal tubule of the dog nephron. Am. J. Physiol. 212, 1355-1360
-
(1967)
Am. J. Physiol
, vol.212
, pp. 1355-1360
-
-
Duarte, C.G.1
Watson, J.F.2
-
14
-
-
0021203068
-
Calcium transport in the rabbit superficial proximal convoluted tubule
-
Ng, R. C., Rouse, D. and Suki, W. N. (1984) Calcium transport in the rabbit superficial proximal convoluted tubule. J. Clin. Invest. 74, 834-842
-
(1984)
J. Clin. Invest
, vol.74
, pp. 834-842
-
-
Ng, R.C.1
Rouse, D.2
Suki, W.N.3
-
15
-
-
0016428990
-
Micropuncture study along the proximal convoluted tubule. Electrolyte reabsorption in first convolutions
-
Le Grimellec, C. (1975) Micropuncture study along the proximal convoluted tubule. Electrolyte reabsorption in first convolutions. Pflugers Arch. 354, 133-150
-
(1975)
Pflugers Arch
, vol.354
, pp. 133-150
-
-
Le Grimellec, C.1
-
16
-
-
0014314342
-
Effect of chronic mineralocorticoid administration on calcium excretion in the rat
-
Suki, W. N., Schwettmann, R. S., Rector, Jr, F. C. and Seldin, D. W. (1968) Effect of chronic mineralocorticoid administration on calcium excretion in the rat. Am. J. Physiol. 215, 71-74
-
(1968)
Am. J. Physiol
, vol.215
, pp. 71-74
-
-
Suki, W.N.1
Schwettmann, R.S.2
Rector Jr, F.C.3
Seldin, D.W.4
-
17
-
-
0022510113
-
Serum magnesium levels in the United States, 1971-1974
-
Lowenstein, F. W. and Stanton, M. F. (1986) Serum magnesium levels in the United States, 1971-1974. J. Am. Coll. Nutr. 5, 399-414
-
(1986)
J. Am. Coll. Nutr
, vol.5
, pp. 399-414
-
-
Lowenstein, F.W.1
Stanton, M.F.2
-
18
-
-
0028220576
-
Renal magnesium handling and its hormonal control
-
de Rouffignac, C. and Quamme, G. (1994) Renal magnesium handling and its hormonal control. Physiol. Rev. 74, 305-322
-
(1994)
Physiol. Rev
, vol.74
, pp. 305-322
-
-
de Rouffignac, C.1
Quamme, G.2
-
19
-
-
0015933732
-
-
Le Grimellec, C., Roinel, N. and Morel, F. (1973) Simultaneous Mg, Ca, P, K, Na and Cl analysis in rat tubular fluid. I. During perfusion of either inulin or ferrocyanide. Pflugers Arch. 340, 181-196
-
Le Grimellec, C., Roinel, N. and Morel, F. (1973) Simultaneous Mg, Ca, P, K, Na and Cl analysis in rat tubular fluid. I. During perfusion of either inulin or ferrocyanide. Pflugers Arch. 340, 181-196
-
-
-
-
20
-
-
0027479412
-
Laboratory evaluation of magnesium status. Renal function and free intracellular magnesium concentration
-
Quamme, G. A. (1993) Laboratory evaluation of magnesium status. Renal function and free intracellular magnesium concentration. Clin. Lab. Med. 13, 209-223
-
(1993)
Clin. Lab. Med
, vol.13
, pp. 209-223
-
-
Quamme, G.A.1
-
21
-
-
0018122679
-
Magnesium handling in the dog kidney: A micropuncture study
-
Quamme, G. A., Wong, N. L., Dirks, J. H., Roinel, N., De Rouffignac, C. and Morel, F. (1978) Magnesium handling in the dog kidney: a micropuncture study. Pflugers Arch. 377, 95-99
-
(1978)
Pflugers Arch
, vol.377
, pp. 95-99
-
-
Quamme, G.A.1
Wong, N.L.2
Dirks, J.H.3
Roinel, N.4
De Rouffignac, C.5
Morel, F.6
-
22
-
-
0021436458
-
Magnesium transport in the proximal straight tubule of the rabbit
-
Quamme, G. A. and Smith, C. M. (1984) Magnesium transport in the proximal straight tubule of the rabbit. Am. J. Physiol. 246, F544-F550
-
(1984)
Am. J. Physiol
, vol.246
-
-
Quamme, G.A.1
Smith, C.M.2
-
23
-
-
0022501178
-
Electrolyte handling by the superficial nephron of the rabbit
-
Wong, N. L., Whiting, S. J., Mizgala, C. L. and Quamme, G. A. (1986) Electrolyte handling by the superficial nephron of the rabbit. Am. J. Physiol. 250, F590-F595
-
(1986)
Am. J. Physiol
, vol.250
-
-
Wong, N.L.1
Whiting, S.J.2
Mizgala, C.L.3
Quamme, G.A.4
-
24
-
-
0021020785
-
Developmental pattern of water and electrolyte transport in rat superficial nephrons
-
Lelievre-Pegorier, M., Merlet-Benichou, C., Roinel, N. and de Rouffignac, C. (1983) Developmental pattern of water and electrolyte transport in rat superficial nephrons. Am. J. Physiol. 245, F15-F21
-
(1983)
Am. J. Physiol
, vol.245
-
-
Lelievre-Pegorier, M.1
Merlet-Benichou, C.2
Roinel, N.3
de Rouffignac, C.4
-
25
-
-
0017114233
-
Influence of extracellular fluid volume expansion on magnesium, calcium and phosphate handling along the rat nephron
-
Poujeol, P., Chabardes, D., Roinel, N. and De Rouffignac, C. (1976) Influence of extracellular fluid volume expansion on magnesium, calcium and phosphate handling along the rat nephron. Pflugers Arch. 365, 203-211
-
(1976)
Pflugers Arch
, vol.365
, pp. 203-211
-
-
Poujeol, P.1
Chabardes, D.2
Roinel, N.3
De Rouffignac, C.4
-
26
-
-
0028038212
-
-
Wrong, O. M., Norden, A. G. and Feest, T. G. (1994) Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Quart. J. Med. 87, 473-493
-
Wrong, O. M., Norden, A. G. and Feest, T. G. (1994) Dent's disease; a familial proximal renal tubular syndrome with low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Quart. J. Med. 87, 473-493
-
-
-
-
27
-
-
0027716372
-
Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22
-
Pook, M. A., Wrong, O., Wooding, C., Norden, A. G., Feest, T. G. and Thakker, R. V. (1993) Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22. Hum. Mol. Genet. 2, 2129-2134
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 2129-2134
-
-
Pook, M.A.1
Wrong, O.2
Wooding, C.3
Norden, A.G.4
Feest, T.G.5
Thakker, R.V.6
-
28
-
-
13344286321
-
A common molecular basis for three inherited kidney stone diseases
-
Lloyd, S. E., Pearce, S. H., Fisher, S. E., Steinmeyer, K., Schwappach, B., Scheinman, S. J., Harding, B., Bolino, A., Devoto, M., Goodyer, P. et al. (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379, 445-449
-
(1996)
Nature
, vol.379
, pp. 445-449
-
-
Lloyd, S.E.1
Pearce, S.H.2
Fisher, S.E.3
Steinmeyer, K.4
Schwappach, B.5
Scheinman, S.J.6
Harding, B.7
Bolino, A.8
Devoto, M.9
Goodyer, P.10
-
29
-
-
0029015415
-
Characterization of carrier females and affected males with X-linked recessive nephrolithiasis
-
Reinhart, S. C., Norden, A. G., Lapsley, M., Thakker, R. V., Pang, J., Moses, A. M., Frymoyer, P. A., Favus, M. J., Hoepner, J. A. and Scheinman, S. J. (1995) Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J. Am. Soc. Nephrol. 5, 1451-1461
-
(1995)
J. Am. Soc. Nephrol
, vol.5
, pp. 1451-1461
-
-
Reinhart, S.C.1
Norden, A.G.2
Lapsley, M.3
Thakker, R.V.4
Pang, J.5
Moses, A.M.6
Frymoyer, P.A.7
Favus, M.J.8
Hoepner, J.A.9
Scheinman, S.J.10
-
30
-
-
22944475536
-
Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5
-
Picollo, A. and Pusch, M. (2005) Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. Nature 436, 420-423
-
(2005)
Nature
, vol.436
, pp. 420-423
-
-
Picollo, A.1
Pusch, M.2
-
31
-
-
22944479662
-
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins
-
Scheel, O., Zdebik, A. A., Lourdel, S. and Jentsch, T. J. (2005) Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature 436, 424-427
-
(2005)
Nature
, vol.436
, pp. 424-427
-
-
Scheel, O.1
Zdebik, A.A.2
Lourdel, S.3
Jentsch, T.J.4
-
32
-
-
0032953770
-
Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease
-
Devuyst, O., Christie, P. T., Courtoy, P. J., Beauwens, R. and Thakker, R. V. (1999) Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease. Hum. Mol. Genet. 8, 247-257
-
(1999)
Hum. Mol. Genet
, vol.8
, pp. 247-257
-
-
Devuyst, O.1
Christie, P.T.2
Courtoy, P.J.3
Beauwens, R.4
Thakker, R.V.5
-
33
-
-
0038153196
-
Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules
-
Christensen, E. I., Devuyst, O., Dom, G., Nielsen, R., Van der Smissen, P., Verroust, P., Leruth, M., Guggino, W. B. and Courtoy, P. J. (2003) Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc. Natl. Acad. Sci. U.S.A. 100, 8472-8477
-
(2003)
Proc. Natl. Acad. Sci. U.S.A
, vol.100
, pp. 8472-8477
-
-
Christensen, E.I.1
Devuyst, O.2
Dom, G.3
Nielsen, R.4
Van der Smissen, P.5
Verroust, P.6
Leruth, M.7
Guggino, W.B.8
Courtoy, P.J.9
-
35
-
-
0034642297
-
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis
-
Wang, S. S., Devuyst, O., Courtoy, P. J., Wang, X. T., Wang, H., Wang, Y., Thakker, R. V., Guggino, S. and Guggino, W. B. (2000) Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. Hum. Mol. Genet. 9, 2937-2945
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 2937-2945
-
-
Wang, S.S.1
Devuyst, O.2
Courtoy, P.J.3
Wang, X.T.4
Wang, H.5
Wang, Y.6
Thakker, R.V.7
Guggino, S.8
Guggino, W.B.9
-
36
-
-
0033913886
-
Characterization of renal chloride channel (CLCN5) mutations in Dent's disease
-
Yamamoto, K., Cox, J. P., Friedrich, T., Christie, P. T., Bald, M., Houtman, P. N., Lapsley, M. J., Patzer, L., Tsimaratos, M., Van'T Hoff, W. G. et al. (2000) Characterization of renal chloride channel (CLCN5) mutations in Dent's disease. J. Am. Soc. Nephrol. 11, 1460-1468
-
(2000)
J. Am. Soc. Nephrol
, vol.11
, pp. 1460-1468
-
-
Yamamoto, K.1
Cox, J.P.2
Friedrich, T.3
Christie, P.T.4
Bald, M.5
Houtman, P.N.6
Lapsley, M.J.7
Patzer, L.8
Tsimaratos, M.9
Van'T Hoff, W.G.10
-
37
-
-
34547227606
-
Mechanisms of disease: What can mouse models tell us about the molecular processes underlying Dent disease? Nat. Clin. Pract
-
Guggino, S. E. (2007) Mechanisms of disease: what can mouse models tell us about the molecular processes underlying Dent disease? Nat. Clin. Pract. Nephrol. 3, 449-455
-
(2007)
Nephrol
, vol.3
, pp. 449-455
-
-
Guggino, S.E.1
-
38
-
-
0037313753
-
Hypocalcemia and osteopathy in mice with kidney-specific megalin gene defect
-
Leheste, J. R., Melsen, F., Wellner, M., Jansen, P., Schlichting, U., Renner-Muller, I., Andreassen, T. T., Wolf, E., Bachmann, S., Nykjaer, A. and Willnow, T. E. (2003) Hypocalcemia and osteopathy in mice with kidney-specific megalin gene defect. FASEB J. 17, 247-249
-
(2003)
FASEB J
, vol.17
, pp. 247-249
-
-
Leheste, J.R.1
Melsen, F.2
Wellner, M.3
Jansen, P.4
Schlichting, U.5
Renner-Muller, I.6
Andreassen, T.T.7
Wolf, E.8
Bachmann, S.9
Nykjaer, A.10
Willnow, T.E.11
-
39
-
-
0033582543
-
An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3
-
Nykjaer, A., Dragun, D., Walther, D., Vorum, H., Jacobsen, C., Herz, J., Melsen, F., Christensen, E. I. and Willnow, T. E. (1999) An endocytic pathway essential for renal uptake and activation of the steroid 25-(OH) vitamin D3. Cell 96, 507-515
-
(1999)
Cell
, vol.96
, pp. 507-515
-
-
Nykjaer, A.1
Dragun, D.2
Walther, D.3
Vorum, H.4
Jacobsen, C.5
Herz, J.6
Melsen, F.7
Christensen, E.I.8
Willnow, T.E.9
-
40
-
-
0027457372
-
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe
-
Leahey, A. M., Charnas, L. R. and Nussbaum, R. L. (1993) Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Hum. Mol. Genet. 2, 461-463
-
(1993)
Hum. Mol. Genet
, vol.2
, pp. 461-463
-
-
Leahey, A.M.1
Charnas, L.R.2
Nussbaum, R.L.3
-
41
-
-
0031914642
-
Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate
-
Zhang, X., Hartz, P. A., Philip, E., Racusen, L. C. and Majerus, P. W. (1998) Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 273, 1574-1582
-
(1998)
J. Biol. Chem
, vol.273
, pp. 1574-1582
-
-
Zhang, X.1
Hartz, P.A.2
Philip, E.3
Racusen, L.C.4
Majerus, P.W.5
-
42
-
-
70350657088
-
-
Stechman, M. J., Loh, N. Y. and Thakker, R. V. (2008) Genetic causes of hypercalciuric nephrolithiasis. Pediatr. Nephrol., doi 10.1007/ s00467-008-0807-0
-
Stechman, M. J., Loh, N. Y. and Thakker, R. V. (2008) Genetic causes of hypercalciuric nephrolithiasis. Pediatr. Nephrol., doi 10.1007/ s00467-008-0807-0
-
-
-
-
43
-
-
0028945343
-
Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome
-
Sliman, G. A., Winters, W. D., Shaw, D. W. and Avner, E. D. (1995) Hypercalciuria and nephrocalcinosis in the oculocerebrorenal syndrome. J. Urol. 153, 1244-1246
-
(1995)
J. Urol
, vol.153
, pp. 1244-1246
-
-
Sliman, G.A.1
Winters, W.D.2
Shaw, D.W.3
Avner, E.D.4
-
44
-
-
19944432314
-
Dent disease with mutations in OCRL1
-
Hoopes, Jr, R. R., Shrimpton, A. E., Knohl, S. J., Hueber, P., Hoppe, B., Matyus, J., Simckes, A., Tasic, V., Toenshoff, B., Suchy, S. F. et al. (2005) Dent disease with mutations in OCRL1. Am. J. Hum. Genet. 76, 260-267
-
(2005)
Am. J. Hum. Genet
, vol.76
, pp. 260-267
-
-
Hoopes Jr, R.R.1
Shrimpton, A.E.2
Knohl, S.J.3
Hueber, P.4
Hoppe, B.5
Matyus, J.6
Simckes, A.7
Tasic, V.8
Toenshoff, B.9
Suchy, S.F.10
-
45
-
-
0020712529
-
Stimulation by antidiuretic hormone of electrolyte tubular reabsorption in rat kidney
-
de Rouffignac, C., Corman, B. and Roinel, N. (1983) Stimulation by antidiuretic hormone of electrolyte tubular reabsorption in rat kidney. Am. J. Physiol. 244, F156-F164
-
(1983)
Am. J. Physiol
, vol.244
-
-
de Rouffignac, C.1
Corman, B.2
Roinel, N.3
-
46
-
-
0020045497
-
Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit
-
Shareghi, G. R. and Agus, Z. S. (1982) Magnesium transport in the cortical thick ascending limb of Henle's loop of the rabbit. J. Clin. Invest. 69, 759-769
-
(1982)
J. Clin. Invest
, vol.69
, pp. 759-769
-
-
Shareghi, G.R.1
Agus, Z.S.2
-
47
-
-
0025873413
-
Consequences of differential effects of ADH and other peptide hormones on thick ascending limb of mammalian kidney
-
De Rouffignac, C., Di Stefano, A.,Wittner, M., Roinel, N. and Elalouf, J. M. (1991) Consequences of differential effects of ADH and other peptide hormones on thick ascending limb of mammalian kidney. Am. J. Physiol. 260, R1023-R1035
-
(1991)
Am. J. Physiol
, vol.260
-
-
De Rouffignac, C.1
Di Stefano, A.2
Wittner, M.3
Roinel, N.4
Elalouf, J.M.5
-
48
-
-
0019133486
-
Calcium transport in the thick ascending limb of Henle. Heterogeneity of function in the medullary and cortical segments
-
Suki, W. N., Rouse, D., Ng, R. C. and Kokko, J. P. (1980) Calcium transport in the thick ascending limb of Henle. Heterogeneity of function in the medullary and cortical segments. J. Clin. Invest. 66, 1004-1009
-
(1980)
J. Clin. Invest
, vol.66
, pp. 1004-1009
-
-
Suki, W.N.1
Rouse, D.2
Ng, R.C.3
Kokko, J.P.4
-
49
-
-
0025104508
-
2+ transport in cortical and medullary thick ascending limbs of mouse kidney
-
2+ transport in cortical and medullary thick ascending limbs of mouse kidney. Pflugers Arch. 417, 161-167
-
(1990)
Pflugers Arch
, vol.417
, pp. 161-167
-
-
Di Stefano, A.1
Wittner, M.2
Nitschke, R.3
Braitsch, R.4
Greger, R.5
Bailly, C.6
Amiel, C.7
Roinel, N.8
de Rouffignac, C.9
-
50
-
-
0017225050
-
Tubular chloride transport and the mode of action of some diuretics
-
Burg, M. B. (1976) Tubular chloride transport and the mode of action of some diuretics. Kidney Int. 9, 189-197
-
(1976)
Kidney Int
, vol.9
, pp. 189-197
-
-
Burg, M.B.1
-
51
-
-
0021234256
-
Ammonia and bicarbonate transport by thick ascending limb of rat kidney
-
Good, D. W., Knepper, M. A. and Burg, M. B. (1984) Ammonia and bicarbonate transport by thick ascending limb of rat kidney. Am. J. Physiol. 247, F35-F44
-
(1984)
Am. J. Physiol
, vol.247
-
-
Good, D.W.1
Knepper, M.A.2
Burg, M.B.3
-
52
-
-
0035126825
-
Collecting duct is a site of sodium retention in PAN nephrosis: A rationale for amiloride therapy
-
Deschenes, G.,Wittner, M., Stefano, A. D., Jounier, S. and Doucet, A. (2001) Collecting duct is a site of sodium retention in PAN nephrosis: a rationale for amiloride therapy. J. Am. Soc. Nephrol. 12, 598-601
-
(2001)
J. Am. Soc. Nephrol
, vol.12
, pp. 598-601
-
-
Deschenes, G.1
Wittner, M.2
Stefano, A.D.3
Jounier, S.4
Doucet, A.5
-
54
-
-
0019629436
-
Effect of furosemide on calcium and magnesium transport in the rat nephron
-
Quamme, G. A. (1981) Effect of furosemide on calcium and magnesium transport in the rat nephron. Am. J. Physiol. 241, F340-F347
-
(1981)
Am. J. Physiol
, vol.241
-
-
Quamme, G.A.1
-
55
-
-
0023112431
-
The cortical thick ascending limb and early distal convoluted tubule in the urinary concentrating mechanism
-
Greger, R. and Velazquez, H. (1987) The cortical thick ascending limb and early distal convoluted tubule in the urinary concentrating mechanism. Kidney Int. 31, 590-596
-
(1987)
Kidney Int
, vol.31
, pp. 590-596
-
-
Greger, R.1
Velazquez, H.2
-
56
-
-
0020659574
-
Properties of the lumen membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney
-
Greger, R. and Schlatter, E. (1983) Properties of the lumen membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney. Pflugers Arch. 396, 315-324
-
(1983)
Pflugers Arch
, vol.396
, pp. 315-324
-
-
Greger, R.1
Schlatter, E.2
-
57
-
-
0019435244
-
Cation selectivity of the isolated perfused cortical thick ascending limb of Henle's loop of rabbit kidney
-
Greger, R. (1981) Cation selectivity of the isolated perfused cortical thick ascending limb of Henle's loop of rabbit kidney. Pflugers Arch. 390, 30-37
-
(1981)
Pflugers Arch
, vol.390
, pp. 30-37
-
-
Greger, R.1
-
58
-
-
0015589991
-
Sodium chloride and water transport in the medullary thick ascending limb of Henle. Evidence for active chloride transport
-
Rocha, A. S. and Kokko, J. P. (1973) Sodium chloride and water transport in the medullary thick ascending limb of Henle. Evidence for active chloride transport. J. Clin. Invest. 52, 612-623
-
(1973)
J. Clin. Invest
, vol.52
, pp. 612-623
-
-
Rocha, A.S.1
Kokko, J.P.2
-
59
-
-
27944501678
-
Paracellin-1 and the modulation of ion selectivity of tight junctions
-
Hou, J., Paul, D. L. and Goodenough, D. A. (2005) Paracellin-1 and the modulation of ion selectivity of tight junctions. J. Cell Sci. 118, 5109-5118
-
(2005)
J. Cell Sci
, vol.118
, pp. 5109-5118
-
-
Hou, J.1
Paul, D.L.2
Goodenough, D.A.3
-
60
-
-
0027654048
-
+ transport in the cortical and medullary thick ascending limb of the rat nephron: Influence of transepithelial voltage
-
+ transport in the cortical and medullary thick ascending limb of the rat nephron: influence of transepithelial voltage. Pflugers Arch. 424, 558-560
-
(1993)
Pflugers Arch
, vol.424
, pp. 558-560
-
-
Mandon, B.1
Siga, E.2
Roinel, N.3
de Rouffignac, C.4
-
61
-
-
0027235502
-
2+ transport in the cortical thick ascending limb of Henle's loop of the mouse: Evidence for a change in the paracellular pathway permeability
-
2+ transport in the cortical thick ascending limb of Henle's loop of the mouse: evidence for a change in the paracellular pathway permeability. Pflugers Arch. 423, 387-396
-
(1993)
Pflugers Arch
, vol.423
, pp. 387-396
-
-
Wittner, M.1
Mandon, B.2
Roinel, N.3
de Rouffignac, C.4
Di Stefano, A.5
-
62
-
-
0036707879
-
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
-
Vargas-Poussou, R., Huang, C., Hulin, P., Houillier, P., Jeunemaitre, X., Paillard, M., Planelles, G., Dechaux, M., Miller, R. T. and Antignac, C. (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J. Am. Soc. Nephrol. 13, 2259-2266
-
(2002)
J. Am. Soc. Nephrol
, vol.13
, pp. 2259-2266
-
-
Vargas-Poussou, R.1
Huang, C.2
Hulin, P.3
Houillier, P.4
Jeunemaitre, X.5
Paillard, M.6
Planelles, G.7
Dechaux, M.8
Miller, R.T.9
Antignac, C.10
-
63
-
-
40149084169
-
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations
-
Egbuna, O. I. and Brown, E. M. (2008) Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract. Res. Clin. Rheumatol. 22, 129-148
-
(2008)
Best Pract. Res. Clin. Rheumatol
, vol.22
, pp. 129-148
-
-
Egbuna, O.I.1
Brown, E.M.2
-
64
-
-
0032463167
-
Calcium-sensing receptor: Regulation of electrolyte transport in the thick ascending limb of Henle's loop
-
Desfleurs, E., Wittner, M., Simeone, S., Pajaud, S., Moine, G., Rajerison, R. and Di Stefano, A. (1998) Calcium-sensing receptor: regulation of electrolyte transport in the thick ascending limb of Henle's loop. Kidney Blood Press. Res. 21, 401-412
-
(1998)
Kidney Blood Press. Res
, vol.21
, pp. 401-412
-
-
Desfleurs, E.1
Wittner, M.2
Simeone, S.3
Pajaud, S.4
Moine, G.5
Rajerison, R.6
Di Stefano, A.7
-
65
-
-
0036721367
-
Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs
-
Motoyama, H. I. and Friedman, P. A. (2002) Calcium-sensing receptor regulation of PTH-dependent calcium absorption by mouse cortical ascending limbs. Am. J. Physiol. Renal Physiol. 283, F399-F406
-
(2002)
Am. J. Physiol. Renal Physiol
, vol.283
-
-
Motoyama, H.I.1
Friedman, P.A.2
-
66
-
-
0036382912
-
Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor
-
McLarnon, S., Holden, D., Ward, D., Jones, M., Elliott, A. and Riccardi, D. (2002) Aminoglycoside antibiotics induce pH-sensitive activation of the calcium-sensing receptor. Biochem. Biophys. Res. Commun. 297, 71-77
-
(2002)
Biochem. Biophys. Res. Commun
, vol.297
, pp. 71-77
-
-
McLarnon, S.1
Holden, D.2
Ward, D.3
Jones, M.4
Elliott, A.5
Riccardi, D.6
-
67
-
-
33748421761
-
Dysregulation of renal sodium transporters in gentamicin-treated rats
-
Sassen, M. C., Kim, S. W., Kwon, T. H., Knepper, M. A., Miller, R. T., Frokiaer, J. and Nielsen, S. (2006) Dysregulation of renal sodium transporters in gentamicin-treated rats. Kidney Int. 70, 1026-1037
-
(2006)
Kidney Int
, vol.70
, pp. 1026-1037
-
-
Sassen, M.C.1
Kim, S.W.2
Kwon, T.H.3
Knepper, M.A.4
Miller, R.T.5
Frokiaer, J.6
Nielsen, S.7
-
68
-
-
0017397322
-
Calcium and phosphate transport in isolated segments of rabbit Henle's loop
-
Rocha, A. S., Magaldi, J. B. and Kokko, J. P. (1977) Calcium and phosphate transport in isolated segments of rabbit Henle's loop. J. Clin. Invest. 59, 975-983
-
(1977)
J. Clin. Invest
, vol.59
, pp. 975-983
-
-
Rocha, A.S.1
Magaldi, J.B.2
Kokko, J.P.3
-
69
-
-
50849151835
-
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
-
Bartter, F. C., Pronove, P., Gill, Jr, J. R. and Maccardle, R. C. (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am. J. Med. 33, 811-828
-
(1962)
Am. J. Med
, vol.33
, pp. 811-828
-
-
Bartter, F.C.1
Pronove, P.2
Gill Jr, J.R.3
Maccardle, R.C.4
-
70
-
-
0015069866
-
Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ('Bartter's syndrome'), and hypercalciuria. Report of two cases with emphasis on natural history and on catch-up growth during treatment
-
Fanconi, A., Schachenmann, G., Nussli, R. and Prader, A. (1971) Chronic hypokalaemia with growth retardation, normotensive hyperrenin-hyperaldosteronism ('Bartter's syndrome'), and hypercalciuria. Report of two cases with emphasis on natural history and on catch-up growth during treatment. Helv. Paediatr. Acta 26, 144-163
-
(1971)
Helv. Paediatr. Acta
, vol.26
, pp. 144-163
-
-
Fanconi, A.1
Schachenmann, G.2
Nussli, R.3
Prader, A.4
-
71
-
-
84993911692
-
Hypercalciuria in potassium-losing nephropathy: A variant of Bartter's syndrome
-
McCredie, D. A., Rotenberg, E. and Williams, A. L. (1974) Hypercalciuria in potassium-losing nephropathy: a variant of Bartter's syndrome. Aust. Paediatr. J. 10, 286-295
-
(1974)
Aust. Paediatr. J
, vol.10
, pp. 286-295
-
-
McCredie, D.A.1
Rotenberg, E.2
Williams, A.L.3
-
72
-
-
0030032699
-
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. and Lifton, R. P. (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat. Genet. 13, 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
-
73
-
-
0029794875
-
+ channel, ROMK
-
+ channel, ROMK. Nat. Genet. 14, 152-156
-
(1996)
Nat. Genet
, vol.14
, pp. 152-156
-
-
Simon, D.B.1
Karet, F.E.2
Rodriguez-Soriano, J.3
Hamdan, J.H.4
DiPietro, A.5
Trachtman, H.6
Sanjad, S.A.7
Lifton, R.P.8
-
74
-
-
37349116785
-
Mechanisms of disease: The kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance
-
Kramer, B. K., Bergler, T., Stoelcker, B. and Waldegger, S. (2008) Mechanisms of disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat. Clin. Pract. Nephrol. 4, 38-46
-
(2008)
Nat. Clin. Pract. Nephrol
, vol.4
, pp. 38-46
-
-
Kramer, B.K.1
Bergler, T.2
Stoelcker, B.3
Waldegger, S.4
-
75
-
-
0033914432
-
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
-
Konrad, M., Vollmer, M., Lemmink, H. H., van den Heuvel, L. P., Jeck, N., Vargas-Poussou, R., Lakings, A., Ruf, R., Deschenes, G., Antignac, C. et al. (2000) Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J. Am. Soc. Nephrol. 11, 1449-1459
-
(2000)
J. Am. Soc. Nephrol
, vol.11
, pp. 1449-1459
-
-
Konrad, M.1
Vollmer, M.2
Lemmink, H.H.3
van den Heuvel, L.P.4
Jeck, N.5
Vargas-Poussou, R.6
Lakings, A.7
Ruf, R.8
Deschenes, G.9
Antignac, C.10
-
76
-
-
0020659156
-
Properties of the basolateral membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney. A model for secondary active chloride transport
-
Greger, R. and Schlatter, E. (1983) Properties of the basolateral membrane of the cortical thick ascending limb of Henle's loop of rabbit kidney. A model for secondary active chloride transport. Pflugers Arch. 396, 325-334
-
(1983)
Pflugers Arch
, vol.396
, pp. 325-334
-
-
Greger, R.1
Schlatter, E.2
-
77
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon, D. B., Bindra, R. S., Mansfield, T. A., Nelson-Williams, C., Mendonca, E., Stone, R., Schurman, S., Nayir, A., Alpay, H., Bakkaloglu, A. et al. (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat. Genet. 17, 171-178
-
(1997)
Nat. Genet
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
Nelson-Williams, C.4
Mendonca, E.5
Stone, R.6
Schurman, S.7
Nayir, A.8
Alpay, H.9
Bakkaloglu, A.10
-
78
-
-
0035189356
-
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
-
Birkenhager, R., Otto, E., Schurmann, M. J., Vollmer, M., Ruf, E. M., Maier-Lutz, I., Beekmann, F., Fekete, A., Omran, H., Feldmann, D. et al. (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat. Genet. 29, 310-314
-
(2001)
Nat. Genet
, vol.29
, pp. 310-314
-
-
Birkenhager, R.1
Otto, E.2
Schurmann, M.J.3
Vollmer, M.4
Ruf, E.M.5
Maier-Lutz, I.6
Beekmann, F.7
Fekete, A.8
Omran, H.9
Feldmann, D.10
-
79
-
-
0035969520
-
+ secretion
-
+ secretion. Nature 414, 558-561
-
(2001)
Nature
, vol.414
, pp. 558-561
-
-
Estevez, R.1
Boettger, T.2
Stein, V.3
Birkenhager, R.4
Otto, E.5
Hildebrandt, F.6
Jentsch, T.J.7
-
80
-
-
1642366722
-
Salt wasting and deafness resulting from mutations in two chloride channels
-
Schlingmann, K. P., Konrad, M., Jeck, N., Waldegger, P., Reinalter, S. C., Holder, M., Seyberth, H. W. and Waldegger, S. (2004) Salt wasting and deafness resulting from mutations in two chloride channels. N. Engl. J. Med. 350, 1314-1319
-
(2004)
N. Engl. J. Med
, vol.350
, pp. 1314-1319
-
-
Schlingmann, K.P.1
Konrad, M.2
Jeck, N.3
Waldegger, P.4
Reinalter, S.C.5
Holder, M.6
Seyberth, H.W.7
Waldegger, S.8
-
81
-
-
0028787681
-
Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder
-
Landau, D., Shalev, H., Ohaly, M. and Carmi, R. (1995) Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder. Am. J. Med. Genet 59, 454-459
-
(1995)
Am. J. Med. Genet
, vol.59
, pp. 454-459
-
-
Landau, D.1
Shalev, H.2
Ohaly, M.3
Carmi, R.4
-
82
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce, S. H., Williamson, C., Kifor, O., Bai, M., Coulthard, M. G., Davies, M., Lewis-Barned, N., McCredie, D., Powell, H., Kendall-Taylor, P. et al. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N. Engl. J. Med. 335, 1115-1122
-
(1996)
N. Engl. J. Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.H.1
Williamson, C.2
Kifor, O.3
Bai, M.4
Coulthard, M.G.5
Davies, M.6
Lewis-Barned, N.7
McCredie, D.8
Powell, H.9
Kendall-Taylor, P.10
-
83
-
-
0028037143
-
2+-sensing receptor gene mutation
-
2+-sensing receptor gene mutation. Nat. Genet. 8, 303-307
-
(1994)
Nat. Genet
, vol.8
, pp. 303-307
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
McLaine, P.N.4
Kifor, O.5
Park, J.6
Hebert, S.C.7
Seidman, C.E.8
Seidman, J.G.9
-
84
-
-
0037206034
-
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
-
Watanabe, S., Fukumoto, S., Chang, H., Takeuchi, Y., Hasegawa, Y., Okazaki, R., Chikatsu, N. and Fujita, T. (2002) Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 360, 692-694
-
(2002)
Lancet
, vol.360
, pp. 692-694
-
-
Watanabe, S.1
Fukumoto, S.2
Chang, H.3
Takeuchi, Y.4
Hasegawa, Y.5
Okazaki, R.6
Chikatsu, N.7
Fujita, T.8
-
85
-
-
0033667558
-
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
-
Jeck, N., Konrad, M., Peters, M., Weber, S., Bonzel, K. E. and Seyberth, H. W. (2000) Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr. Res. 48, 754-758
-
(2000)
Pediatr. Res
, vol.48
, pp. 754-758
-
-
Jeck, N.1
Konrad, M.2
Peters, M.3
Weber, S.4
Bonzel, K.E.5
Seyberth, H.W.6
-
86
-
-
0015413157
-
Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. Evaluation of the pathophysiological role of parathyroid hormone
-
Michelis, M. F., Drash, A. L., Linarelli, L. G., De Rubertis, F. R. and Davis, B. B. (1972) Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. Evaluation of the pathophysiological role of parathyroid hormone. Metab., Clin. Exp. 21, 905-920
-
(1972)
Metab., Clin. Exp
, vol.21
, pp. 905-920
-
-
Michelis, M.F.1
Drash, A.L.2
Linarelli, L.G.3
De Rubertis, F.R.4
Davis, B.B.5
-
87
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga, M., Vara, J., Gonzalez-Parra, E., Andres, A., Alamo, C., Araque, A., Ortiz, A. and Rodicio, J. L. (1995) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int. 47, 1419-1425
-
(1995)
Kidney Int
, vol.47
, pp. 1419-1425
-
-
Praga, M.1
Vara, J.2
Gonzalez-Parra, E.3
Andres, A.4
Alamo, C.5
Araque, A.6
Ortiz, A.7
Rodicio, J.L.8
-
88
-
-
0033516683
-
2+ resorption
-
2+ resorption. Science 285, 103-106
-
(1999)
Science
, vol.285
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
Velazquez, H.4
Al-Sabban, E.5
Praga, M.6
Casari, G.7
Bettinelli, A.8
Colussi, G.9
Rodriguez-Soriano, J.10
-
89
-
-
33751097262
-
Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
-
Konrad, M., Schaller, A., Seelow, D., Pandey, A. V., Waldegger, S., Lesslauer, A., Vitzthum, H., Suzuki, Y., Luk, J. M., Becker, C. et al. (2006) Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am. J. Hum. Genet. 79, 949-957
-
(2006)
Am. J. Hum. Genet
, vol.79
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
Pandey, A.V.4
Waldegger, S.5
Lesslauer, A.6
Vitzthum, H.7
Suzuki, Y.8
Luk, J.M.9
Becker, C.10
-
90
-
-
0036208599
-
Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments
-
Kiuchi-Saishin, Y., Gotoh, S., Furuse, M., Takasuga, A., Tano, Y. and Tsukita, S. (2002) Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments. J. Am. Soc. Nephrol. 13, 875-886
-
(2002)
J. Am. Soc. Nephrol
, vol.13
, pp. 875-886
-
-
Kiuchi-Saishin, Y.1
Gotoh, S.2
Furuse, M.3
Takasuga, A.4
Tano, Y.5
Tsukita, S.6
-
91
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber, S., Schneider, L., Peters, M., Misselwitz, J., Ronnefarth, G., Boswald, M., Bonzel, K. E., Seeman, T., Sulakova, T., Kuwertz-Broking, E. et al. (2001) Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J. Am. Soc. Nephrol. 12, 1872-1881
-
(2001)
J. Am. Soc. Nephrol
, vol.12
, pp. 1872-1881
-
-
Weber, S.1
Schneider, L.2
Peters, M.3
Misselwitz, J.4
Ronnefarth, G.5
Boswald, M.6
Bonzel, K.E.7
Seeman, T.8
Sulakova, T.9
Kuwertz-Broking, E.10
-
92
-
-
17544399838
-
A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting
-
Muller, D., Kausalya, P. J., Claverie-Martin, F., Meij, I. C., Eggert, P., Garcia-Nieto, V. and Hunziker, W. (2003) A novel claudin 16 mutation associated with childhood hypercalciuria abolishes binding to ZO-1 and results in lysosomal mistargeting. Am. J. Hum. Genet. 73, 1293-1301
-
(2003)
Am. J. Hum. Genet
, vol.73
, pp. 1293-1301
-
-
Muller, D.1
Kausalya, P.J.2
Claverie-Martin, F.3
Meij, I.C.4
Eggert, P.5
Garcia-Nieto, V.6
Hunziker, W.7
-
93
-
-
33744544786
-
Phosphorylation of paracellin-1 at Ser217 by protein kinase A is essential for localization in tight junctions
-
Ikari, A., Matsumoto, S., Harada, H., Takagi, K., Hayashi, H., Suzuki, Y., Degawa, M. and Miwa, M. (2006) Phosphorylation of paracellin-1 at Ser217 by protein kinase A is essential for localization in tight junctions. J. Cell Sci. 119, 1781-1789
-
(2006)
J. Cell Sci
, vol.119
, pp. 1781-1789
-
-
Ikari, A.1
Matsumoto, S.2
Harada, H.3
Takagi, K.4
Hayashi, H.5
Suzuki, Y.6
Degawa, M.7
Miwa, M.8
-
94
-
-
84868907355
-
Function and regulation of claudins in the thick ascending limb of Henle
-
Gunzel, D. and Yu, A. S. (2009) Function and regulation of claudins in the thick ascending limb of Henle. Pflugers Arch. 133, 111-127
-
(2009)
Pflugers Arch
, vol.133
, pp. 111-127
-
-
Gunzel, D.1
Yu, A.S.2
-
95
-
-
38849149203
-
Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex
-
Hou, J., Renigunta, A., Konrad, M., Gomes, A. S., Schneeberger, E. E., Paul, D. L., Waldegger, S. and Goodenough, D. A. (2008) Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex. J. Clin. Invest. 118, 619-628
-
(2008)
J. Clin. Invest
, vol.118
, pp. 619-628
-
-
Hou, J.1
Renigunta, A.2
Konrad, M.3
Gomes, A.S.4
Schneeberger, E.E.5
Paul, D.L.6
Waldegger, S.7
Goodenough, D.A.8
-
97
-
-
34447126892
-
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium
-
Hou, J., Shan, Q., Wang, T., Gomes, A. S., Yan, Q., Paul, D. L., Bleich, M. and Goodenough, D. A. (2007) Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium. J. Biol. Chem. 282, 17114-17122
-
(2007)
J. Biol. Chem
, vol.282
, pp. 17114-17122
-
-
Hou, J.1
Shan, Q.2
Wang, T.3
Gomes, A.S.4
Yan, Q.5
Paul, D.L.6
Bleich, M.7
Goodenough, D.A.8
-
98
-
-
0034999377
-
Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle
-
Blanchard, A., Jeunemaitre, X., Coudol, P., Dechaux, M., Froissart, M., May, A., Demontis, R., Fournier, A., Paillard, M. and Houillier, P. (2001) Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int. 59, 2206-2215
-
(2001)
Kidney Int
, vol.59
, pp. 2206-2215
-
-
Blanchard, A.1
Jeunemaitre, X.2
Coudol, P.3
Dechaux, M.4
Froissart, M.5
May, A.6
Demontis, R.7
Fournier, A.8
Paillard, M.9
Houillier, P.10
-
99
-
-
57349133000
-
Salt and acid-base metabolism in claudin-16 knockdown mice: Impact for the pathophysiology of FHHNC patients
-
Himmerkus, N., Shan, Q., Goerke, B., Hou, J., Goodenough, D. A. and Bleich, M. (2008) Salt and acid-base metabolism in claudin-16 knockdown mice: impact for the pathophysiology of FHHNC patients. Am. J. Physiol. Renal Physiol. 295, F1641-F1647
-
(2008)
Am. J. Physiol. Renal Physiol
, vol.295
-
-
Himmerkus, N.1
Shan, Q.2
Goerke, B.3
Hou, J.4
Goodenough, D.A.5
Bleich, M.6
-
100
-
-
0017841678
-
Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism
-
Marx, S. J., Spiegel, A. M., Brown, E. M., Koehler, J. O., Gardner, D. G., Brennan, M. F. and Aurbach, G. D. (1978) Divalent cation metabolism. Familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. Am. J. Med. 65, 235-242
-
(1978)
Am. J. Med
, vol.65
, pp. 235-242
-
-
Marx, S.J.1
Spiegel, A.M.2
Brown, E.M.3
Koehler, J.O.4
Gardner, D.G.5
Brennan, M.F.6
Aurbach, G.D.7
-
101
-
-
0024422565
-
Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism
-
Heath, III, H. (1989) Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism. Endocrinol. Metab. Clin. N. Am. 18, 723-740
-
(1989)
Endocrinol. Metab. Clin. N. Am
, vol.18
, pp. 723-740
-
-
Heath III, H.1
-
102
-
-
0021247453
-
Altered parathyroid set point to calcium in familial hypocalciuric hypercalcaemia
-
Auwerx, J., Demedts, M. and Bouillon, R. (1984) Altered parathyroid set point to calcium in familial hypocalciuric hypercalcaemia. Acta Endocrinol. 106, 215-218
-
(1984)
Acta Endocrinol
, vol.106
, pp. 215-218
-
-
Auwerx, J.1
Demedts, M.2
Bouillon, R.3
-
103
-
-
0020516783
-
Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism
-
Attie, M. F., Gill, Jr, J. R., Stock, J. L., Spiegel, A. M., Downs, Jr, R. W., Levine, M. A. and Marx, S. J. (1983) Urinary calcium excretion in familial hypocalciuric hypercalcemia. Persistence of relative hypocalciuria after induction of hypoparathyroidism. J. Clin. Invest. 72, 667-676
-
(1983)
J. Clin. Invest
, vol.72
, pp. 667-676
-
-
Attie, M.F.1
Gill Jr, J.R.2
Stock, J.L.3
Spiegel, A.M.4
Downs Jr, R.W.5
Levine, M.A.6
Marx, S.J.7
-
104
-
-
0021910184
-
Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families
-
Law, Jr, W. M. and Heath, III, H. (1985) Familial benign hypercalcemia (hypocalciuric hypercalcemia). Clinical and pathogenetic studies in 21 families. Ann. Intern. Med. 102, 511-519
-
(1985)
Ann. Intern. Med
, vol.102
, pp. 511-519
-
-
Law Jr, W.M.1
Heath III, H.2
-
105
-
-
0021966594
-
Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes
-
Marx, S. J., Fraser, D. and Rapoport, A. (1985) Familial hypocalciuric hypercalcemia. Mild expression of the gene in heterozygotes and severe expression in homozygotes. Am. J. Med. 78, 15-22
-
(1985)
Am. J. Med
, vol.78
, pp. 15-22
-
-
Marx, S.J.1
Fraser, D.2
Rapoport, A.3
-
106
-
-
0029951194
-
Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney
-
Hebert, S. C. (1996) Extracellular calcium-sensing receptor: implications for calcium and magnesium handling in the kidney. Kidney Int. 50, 2129-2139
-
(1996)
Kidney Int
, vol.50
, pp. 2129-2139
-
-
Hebert, S.C.1
-
107
-
-
0345505223
-
The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone
-
Kos, C. H., Karaplis, A. C., Peng, J. B., Hediger, M. A., Goltzman, D., Mohammad, K. S., Guise, T. A. and Pollak, M. R. (2003) The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone. J. Clin. Invest. 111, 1021-1028
-
(2003)
J. Clin. Invest
, vol.111
, pp. 1021-1028
-
-
Kos, C.H.1
Karaplis, A.C.2
Peng, J.B.3
Hediger, M.A.4
Goltzman, D.5
Mohammad, K.S.6
Guise, T.A.7
Pollak, M.R.8
-
108
-
-
0023873332
-
A standard nomenclature for structures of the kidney. The Renal Commission of the International Union of Physiological Sciences (IUPS)
-
Kriz, W. and Bankir, L. (1988) A standard nomenclature for structures of the kidney. The Renal Commission of the International Union of Physiological Sciences (IUPS). Kidney Int. 33, 1-7
-
(1988)
Kidney Int
, vol.33
, pp. 1-7
-
-
Kriz, W.1
Bankir, L.2
-
109
-
-
0033963206
-
Mammalian distal tubule: Physiology, pathophysiology, and molecular anatomy
-
Reilly, R. F. and Ellison, D. H. (2000) Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy. Physiol. Rev. 80, 277-313
-
(2000)
Physiol. Rev
, vol.80
, pp. 277-313
-
-
Reilly, R.F.1
Ellison, D.H.2
-
110
-
-
0015419799
-
Some electrical properties of distal tubular epithelium in the rat
-
Malnic, G. and Giebisch, G. (1972) Some electrical properties of distal tubular epithelium in the rat. Am. J. Physiol. 223, 797-808
-
(1972)
Am. J. Physiol
, vol.223
, pp. 797-808
-
-
Malnic, G.1
Giebisch, G.2
-
111
-
-
0015026343
-
Increasing magnitude of electrical potential along the renal distal tubule
-
Wright, F. S. (1971) Increasing magnitude of electrical potential along the renal distal tubule. Am. J. Physiol. 220, 624-638
-
(1971)
Am. J. Physiol
, vol.220
, pp. 624-638
-
-
Wright, F.S.1
-
112
-
-
0013943773
-
Effect of ionic substitutions on distal potential differences in rat kidney
-
Giebisch, G., Malnic, G., Klose, R. M. and Windhager, E. E. (1966) Effect of ionic substitutions on distal potential differences in rat kidney. Am. J. Physiol. 211, 560-568
-
(1966)
Am. J. Physiol
, vol.211
, pp. 560-568
-
-
Giebisch, G.1
Malnic, G.2
Klose, R.M.3
Windhager, E.E.4
-
113
-
-
0003614052
-
Transtubular potential differences of rat kidney
-
Solomon, S. (1957) Transtubular potential differences of rat kidney. J. Cell. Physiol. 49, 351-365
-
(1957)
J. Cell. Physiol
, vol.49
, pp. 351-365
-
-
Solomon, S.1
-
114
-
-
0017713908
-
Regulation of urinary calcium excretion in the rat
-
Agus, Z. S., Chiu, P. J. and Goldberg, M. (1977) Regulation of urinary calcium excretion in the rat. Am. J. Physiol. 232, F545-F549
-
(1977)
Am. J. Physiol
, vol.232
-
-
Agus, Z.S.1
Chiu, P.J.2
Goldberg, M.3
-
115
-
-
0021992886
-
Stimulation by glucagon and PTH of Ca and Mg reabsorption in the superficial distal tubule of the rat kidney
-
Bailly, C., Roinel, N. and Amiel, C. (1985) Stimulation by glucagon and PTH of Ca and Mg reabsorption in the superficial distal tubule of the rat kidney. Pflugers Arch. 403, 28-34
-
(1985)
Pflugers Arch
, vol.403
, pp. 28-34
-
-
Bailly, C.1
Roinel, N.2
Amiel, C.3
-
116
-
-
0033605642
-
2+ channel in 1,25-dihydroxyvitamin D3-responsive epithelia
-
2+ channel in 1,25-dihydroxyvitamin D3-responsive epithelia. J. Biol. Chem. 274, 8375-8378
-
(1999)
J. Biol. Chem
, vol.274
, pp. 8375-8378
-
-
Hoenderop, J.G.1
van der Kemp, A.W.2
Hartog, A.3
van de Graaf, S.F.4
van Os, C.H.5
Willems, P.H.6
Bindels, R.J.7
-
118
-
-
0037376254
-
Sodium and calcium transport pathways along the mammalian distal nephron: From rabbit to human
-
Loffing, J. and Kaissling, B. (2003) Sodium and calcium transport pathways along the mammalian distal nephron: from rabbit to human. Am. J. Physiol. Renal Physiol. 284, F628-F643
-
(2003)
Am. J. Physiol. Renal Physiol
, vol.284
-
-
Loffing, J.1
Kaissling, B.2
-
119
-
-
0034922840
-
Calcitriol controls the epithelial calcium channel in kidney
-
Hoenderop, J. G., Muller, D., Van Der Kemp, A. W., Hartog, A., Suzuki, M., Ishibashi, K., Imai, M., Sweep, F., Willems, P. H., Van Os, C. H. and Bindels, R. J. (2001) Calcitriol controls the epithelial calcium channel in kidney. J. Am. Soc. Nephrol. 12, 1342-1349
-
(2001)
J. Am. Soc. Nephrol
, vol.12
, pp. 1342-1349
-
-
Hoenderop, J.G.1
Muller, D.2
Van Der Kemp, A.W.3
Hartog, A.4
Suzuki, M.5
Ishibashi, K.6
Imai, M.7
Sweep, F.8
Willems, P.H.9
Van Os, C.H.10
Bindels, R.J.11
-
121
-
-
0035662188
-
Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron
-
Loffing, J., Loffing-Cueni, D., Valderrabano, V., Klausli, L., Hebert, S. C., Rossier, B. C., Hoenderop, J. G., Bindels, R. J. and Kaissling, B. (2001) Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron. Am. J. Physiol. Renal Physiol. 281, F1021-F1027
-
(2001)
Am. J. Physiol. Renal Physiol
, vol.281
-
-
Loffing, J.1
Loffing-Cueni, D.2
Valderrabano, V.3
Klausli, L.4
Hebert, S.C.5
Rossier, B.C.6
Hoenderop, J.G.7
Bindels, R.J.8
Kaissling, B.9
-
122
-
-
0347320924
-
2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5
-
2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J. Clin. Invest. 112, 1906-1914
-
(2003)
J. Clin. Invest
, vol.112
, pp. 1906-1914
-
-
Hoenderop, J.G.1
van Leeuwen, J.P.2
van der Eerden, B.C.3
Kersten, F.F.4
van der Kemp, A.W.5
Merillat, A.M.6
Waarsing, J.H.7
Rossier, B.C.8
Vallon, V.9
Hummler, E.10
Bindels, R.J.11
-
123
-
-
66049139193
-
TRPV5 gene polymorphisms in renal hypercalciuria
-
Renkema, K. Y., Lee, K., Topala, C. N., Goossens, M., Houillier, P., Bindels, R. J. and Hoenderop, J. G. (2009) TRPV5 gene polymorphisms in renal hypercalciuria. Nephrol. Dial. Transplant. 24, 1919-1924
-
(2009)
Nephrol. Dial. Transplant
, vol.24
, pp. 1919-1924
-
-
Renkema, K.Y.1
Lee, K.2
Topala, C.N.3
Goossens, M.4
Houillier, P.5
Bindels, R.J.6
Hoenderop, J.G.7
-
124
-
-
0016215606
-
Micropuncture study of magnesium transport along the nephron in the young rat
-
Brunette, M. G., Vigneault, N. and Carriere, S. (1974) Micropuncture study of magnesium transport along the nephron in the young rat. Am. J. Physiol. 227, 891-896
-
(1974)
Am. J. Physiol
, vol.227
, pp. 891-896
-
-
Brunette, M.G.1
Vigneault, N.2
Carriere, S.3
-
125
-
-
0018988982
-
Intraluminal and contraluminal magnesium on magnesium and calcium transfer in the rat nephron
-
Quamme, G. A. and Dirks, J. H. (1980) Intraluminal and contraluminal magnesium on magnesium and calcium transfer in the rat nephron. Am. J. Physiol. 238, F187-F198
-
(1980)
Am. J. Physiol
, vol.238
-
-
Quamme, G.A.1
Dirks, J.H.2
-
126
-
-
0036315896
-
Intracellular magnesium and magnesium buffering
-
Grubbs, R. D. (2002) Intracellular magnesium and magnesium buffering. Biometals 15, 251-259
-
(2002)
Biometals
, vol.15
, pp. 251-259
-
-
Grubbs, R.D.1
-
128
-
-
0021287343
-
Relationship between peritubular membrane potential and net fluid reabsorption in the distal renal tubule of Amphiuma
-
Cohen, B., Giebisch, G., Hansen, L. L., Teuscher, U. and Wiederholt, M. (1984) Relationship between peritubular membrane potential and net fluid reabsorption in the distal renal tubule of Amphiuma. J. Physiol. 348, 115-134
-
(1984)
J. Physiol
, vol.348
, pp. 115-134
-
-
Cohen, B.1
Giebisch, G.2
Hansen, L.L.3
Teuscher, U.4
Wiederholt, M.5
-
129
-
-
0019415039
-
Effect of calcium, furosemide and chlorothiazide on net volume reabsorption and basolateral membrane potential of the distal tubule
-
Hansen, L. L., Schilling, A. R. and Wiederholt, M. (1981) Effect of calcium, furosemide and chlorothiazide on net volume reabsorption and basolateral membrane potential of the distal tubule. Pflugers Arch. 389, 121-126
-
(1981)
Pflugers Arch
, vol.389
, pp. 121-126
-
-
Hansen, L.L.1
Schilling, A.R.2
Wiederholt, M.3
-
130
-
-
0347683487
-
2+ absorption
-
2+ absorption. J. Biol. Chem. 279, 19-25
-
(2004)
J. Biol. Chem
, vol.279
, pp. 19-25
-
-
Voets, T.1
Nilius, B.2
Hoefs, S.3
van der Kemp, A.W.4
Droogmans, G.5
Bindels, R.J.6
Hoenderop, J.G.7
-
131
-
-
0142072743
-
2+ nificent TRPM chanzymes
-
2+ nificent TRPM chanzymes. Curr. Biol. 13, R799-R801
-
(2003)
Curr. Biol
, vol.13
-
-
Montell, C.1
-
132
-
-
33646140352
-
Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7
-
Li, M., Jiang, J. and Yue, L. (2006) Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7. J. Gen. Physiol. 127, 525-537
-
(2006)
J. Gen. Physiol
, vol.127
, pp. 525-537
-
-
Li, M.1
Jiang, J.2
Yue, L.3
-
133
-
-
34548498843
-
2+ permeability and pH sensitivity in TRPM6 and TRPM7
-
2+ permeability and pH sensitivity in TRPM6 and TRPM7. J. Biol. Chem. 282, 25817-25830
-
(2007)
J. Biol. Chem
, vol.282
, pp. 25817-25830
-
-
Li, M.1
Du, J.2
Jiang, J.3
Ratzan, W.4
Su, L.T.5
Runnels, L.W.6
Yue, L.7
-
134
-
-
34147109145
-
Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6
-
Chubanov, V., Schlingmann, K. P., Waring, J., Heinzinger, J., Kaske, S., Waldegger, S., Schnitzler, M. M. and Gudermann, T. (2007) Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6. J. Biol. Chem. 282, 7656-7667
-
(2007)
J. Biol. Chem
, vol.282
, pp. 7656-7667
-
-
Chubanov, V.1
Schlingmann, K.P.2
Waring, J.3
Heinzinger, J.4
Kaske, S.5
Waldegger, S.6
Schnitzler, M.M.7
Gudermann, T.8
-
135
-
-
1542297755
-
-
Chubanov, V., Waldegger, S., Mederos y Schnitzler, M., Vitzthum, H., Sassen, M. C., Seyberth, H.W., Konrad, M. and Gudermann, T. (2004) Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc. Natl. Acad. Sci. U.S.A. 101, 2894-2899
-
Chubanov, V., Waldegger, S., Mederos y Schnitzler, M., Vitzthum, H., Sassen, M. C., Seyberth, H.W., Konrad, M. and Gudermann, T. (2004) Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc. Natl. Acad. Sci. U.S.A. 101, 2894-2899
-
-
-
-
136
-
-
22744442698
-
A critical role of TRPM channel-kinase for human magnesium transport
-
Schlingmann, K. P. and Gudermann, T. (2005) A critical role of TRPM channel-kinase for human magnesium transport. J. Physiol. 566, 301-308
-
(2005)
J. Physiol
, vol.566
, pp. 301-308
-
-
Schlingmann, K.P.1
Gudermann, T.2
-
137
-
-
27844523226
-
The channel kinases TRPM6 and TRPM7 are functionally nonredundant
-
Schmitz, C., Dorovkov, M. V., Zhao, X., Davenport, B. J., Ryazanov, A. G. and Perraud, A. L. (2005) The channel kinases TRPM6 and TRPM7 are functionally nonredundant. J. Biol. Chem. 280, 37763-37771
-
(2005)
J. Biol. Chem
, vol.280
, pp. 37763-37771
-
-
Schmitz, C.1
Dorovkov, M.V.2
Zhao, X.3
Davenport, B.J.4
Ryazanov, A.G.5
Perraud, A.L.6
-
139
-
-
18544369466
-
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family
-
Schlingmann, K. P., Weber, S., Peters, M., Niemann Nejsum, L., Vitzthum, H., Klingel, K., Kratz, M., Haddad, E., Ristoff, E. et al. (2002) Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat. Genet. 31, 166-170
-
(2002)
Nat. Genet
, vol.31
, pp. 166-170
-
-
Schlingmann, K.P.1
Weber, S.2
Peters, M.3
Niemann Nejsum, L.4
Vitzthum, H.5
Klingel, K.6
Kratz, M.7
Haddad, E.8
Ristoff, E.9
-
140
-
-
0036592004
-
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
-
Walder, R. Y., Landau, D., Meyer, P., Shalev, H., Tsolia, M., Borochowitz, Z., Boettger, M. B., Beck, G. E., Englehardt, R. K., Carmi, R. and Sheffield, V. C. (2002) Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat. Genet. 31, 171-174
-
(2002)
Nat. Genet
, vol.31
, pp. 171-174
-
-
Walder, R.Y.1
Landau, D.2
Meyer, P.3
Shalev, H.4
Tsolia, M.5
Borochowitz, Z.6
Boettger, M.B.7
Beck, G.E.8
Englehardt, R.K.9
Carmi, R.10
Sheffield, V.C.11
-
141
-
-
0014249537
-
Primary hypomagnesemia with secondary hypocalcemia in an infant
-
Paunier, L., Radde, I. C., Kooh, S. W., Conen, P. E. and Fraser, D. (1968) Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41, 385-402
-
(1968)
Pediatrics
, vol.41
, pp. 385-402
-
-
Paunier, L.1
Radde, I.C.2
Kooh, S.W.3
Conen, P.E.4
Fraser, D.5
-
142
-
-
0031892059
-
Clinical presentation and outcome in primary familial hypomagnesaemia
-
Shalev, H., Phillip, M., Galil, A., Carmi, R. and Landau, D. (1998) Clinical presentation and outcome in primary familial hypomagnesaemia. Arch. Dis. Child. 78, 127-130
-
(1998)
Arch. Dis. Child
, vol.78
, pp. 127-130
-
-
Shalev, H.1
Phillip, M.2
Galil, A.3
Carmi, R.4
Landau, D.5
-
143
-
-
0018645514
-
Studies in primary hypomagnesaemia: Evidence for defective carrier-mediated small intestinal transport of magnesium
-
Milla, P. J., Aggett, P. J., Wolff, O. H. and Harries, J. T. (1979) Studies in primary hypomagnesaemia: evidence for defective carrier-mediated small intestinal transport of magnesium. Gut 20, 1028-1033
-
(1979)
Gut
, vol.20
, pp. 1028-1033
-
-
Milla, P.J.1
Aggett, P.J.2
Wolff, O.H.3
Harries, J.T.4
-
144
-
-
0019492106
-
Familial hypomagnesemia-a follow-up examination of three patients after 9 to 12 years of treatment
-
Stromme, J. H., Steen-Johnsen, J., Harnaes, K., Hofstad, F. and Brandtzaeg, P. (1981) Familial hypomagnesemia-a follow-up examination of three patients after 9 to 12 years of treatment. Pediatr. Res. 15, 1134-1139
-
(1981)
Pediatr. Res
, vol.15
, pp. 1134-1139
-
-
Stromme, J.H.1
Steen-Johnsen, J.2
Harnaes, K.3
Hofstad, F.4
Brandtzaeg, P.5
-
145
-
-
0024518053
-
Primary hypomagnesemia with a probable double magnesium transport defect
-
Matzkin, H., Lotan, D. and Boichis, H. (1989) Primary hypomagnesemia with a probable double magnesium transport defect. Nephron 52, 83-86
-
(1989)
Nephron
, vol.52
, pp. 83-86
-
-
Matzkin, H.1
Lotan, D.2
Boichis, H.3
-
146
-
-
0033029532
-
Hypomagnesemia
-
Agus, Z. S. (1999) Hypomagnesemia. J. Am. Soc. Nephrol. 10, 1616-1622
-
(1999)
J. Am. Soc. Nephrol
, vol.10
, pp. 1616-1622
-
-
Agus, Z.S.1
-
147
-
-
0023513620
-
Isolated autosomal recessive renal magnesium loss in two sisters
-
Geven, W. B., Monnens, L. A., Willems, J. L., Buijs, W. and Hamel, C. J. (1987) Isolated autosomal recessive renal magnesium loss in two sisters. Clin. Genet. 32, 398-402
-
(1987)
Clin. Genet
, vol.32
, pp. 398-402
-
-
Geven, W.B.1
Monnens, L.A.2
Willems, J.L.3
Buijs, W.4
Hamel, C.J.5
-
148
-
-
34547700632
-
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
-
Groenestege, W. M., Thebault, S., van der Wijst, J., van den Berg, D., Janssen, R., Tejpar, S., van den Heuvel, L. P., van Cutsem, E., Hoenderop, J. G., Knoers, N. V. and Bindels, R. J. (2007) Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J. Clin. Invest. 117, 2260-2267
-
(2007)
J. Clin. Invest
, vol.117
, pp. 2260-2267
-
-
Groenestege, W.M.1
Thebault, S.2
van der Wijst, J.3
van den Berg, D.4
Janssen, R.5
Tejpar, S.6
van den Heuvel, L.P.7
van Cutsem, E.8
Hoenderop, J.G.9
Knoers, N.V.10
Bindels, R.J.11
-
149
-
-
58149489320
-
EGF increases TRPM6 activity and surface expression
-
Thebault, S., Alexander, R. T., Tiel Groenestege, W. M., Hoenderop, J. G. and Bindels, R. J. (2008) EGF increases TRPM6 activity and surface expression. J. Am. Soc. Nephrol. 20, 78-85
-
(2008)
J. Am. Soc. Nephrol
, vol.20
, pp. 78-85
-
-
Thebault, S.1
Alexander, R.T.2
Tiel Groenestege, W.M.3
Hoenderop, J.G.4
Bindels, R.J.5
-
150
-
-
34247224987
-
Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: A prospective study
-
Tejpar, S., Piessevaux, H., Claes, K., Piront, P., Hoenderop, J. G., Verslype, C. and Van Cutsem, E. (2007) Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective study. Lancet Oncol. 8, 387-394
-
(2007)
Lancet Oncol
, vol.8
, pp. 387-394
-
-
Tejpar, S.1
Piessevaux, H.2
Claes, K.3
Piront, P.4
Hoenderop, J.G.5
Verslype, C.6
Van Cutsem, E.7
-
151
-
-
0023241734
-
Renal magnesium wasting in two families with autosomal dominant inheritance
-
Geven, W. B., Monnens, L. A., Willems, H. L., Buijs, W. C. and ter Haar, B. G. (1987) Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int. 31, 1140-1144
-
(1987)
Kidney Int
, vol.31
, pp. 1140-1144
-
-
Geven, W.B.1
Monnens, L.A.2
Willems, H.L.3
Buijs, W.C.4
ter Haar, B.G.5
-
154
-
-
21444445095
-
+ affinity and decreased thermal stability
-
+ affinity and decreased thermal stability. J. Biol. Chem. 280, 19003-19011
-
(2005)
J. Biol. Chem
, vol.280
, pp. 19003-19011
-
-
Jones, D.H.1
Li, T.Y.2
Arystarkhova, E.3
Barr, K.J.4
Wetzel, R.K.5
Peng, J.6
Markham, K.7
Sweadner, K.J.8
Fong, G.H.9
Kidder, G.M.10
-
155
-
-
0034836615
-
Immunocytochemical localization of Na-K-ATPase α- and γ-subunits in rat kidney
-
Wetzel, R. K. and Sweadner, K. J. (2001) Immunocytochemical localization of Na-K-ATPase α- and γ-subunits in rat kidney. Am. J. Physiol. Renal Physiol. 281, F531-F545
-
(2001)
Am. J. Physiol. Renal Physiol
, vol.281
-
-
Wetzel, R.K.1
Sweadner, K.J.2
-
156
-
-
0035421235
-
CHIF, a member of the FXYD protein family, is a regulator of Na,K-ATPase distinct from the γ-subunit
-
Beguin, P., Crambert, G., Guennoun, S., Garty, H., Horisberger, J. D. and Geering, K. (2001) CHIF, a member of the FXYD protein family, is a regulator of Na,K-ATPase distinct from the γ-subunit. EMBO J. 20, 3993-4002
-
(2001)
EMBO J
, vol.20
, pp. 3993-4002
-
-
Beguin, P.1
Crambert, G.2
Guennoun, S.3
Garty, H.4
Horisberger, J.D.5
Geering, K.6
-
157
-
-
0039438642
-
The γ subunit is a specific component of the Na,K-ATPase and modulates its transport function
-
Beguin, P., Wang, X., Firsov, D., Puoti, A., Claeys, D., Horisberger, J. D. and Geering, K. (1997) The γ subunit is a specific component of the Na,K-ATPase and modulates its transport function. EMBO J. 16, 4250-4260
-
(1997)
EMBO J
, vol.16
, pp. 4250-4260
-
-
Beguin, P.1
Wang, X.2
Firsov, D.3
Puoti, A.4
Claeys, D.5
Horisberger, J.D.6
Geering, K.7
-
158
-
-
0033763089
-
+-ATPase γ-subunit
-
Meij, I. C., Koenderink, J. B., van Bokhoven, H., Assink, K. F., Groenestege, W. T., de Pont, J. J., Bindels, R. J., Monnens, L. A., van
-
(2000)
Nat. Genet
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
van Bokhoven, H.3
Assink, K.F.4
Groenestege, W.T.5
de Pont, J.J.6
Bindels, R.J.7
Monnens, L.A.8
van den Heuvel, L.P.9
Knoers, N.V.10
-
159
-
-
38349046659
-
Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia
-
Cairo, E. R., Friedrich, T., Swarts, H. G., Knoers, N. V., Bindels, R. J., Monnens, L. A., Willems, P. H., De Pont, J. J. and Koenderink, J. B. (2008) Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia. Biochim. Biophys. Acta 1778, 398-404
-
(2008)
Biochim. Biophys. Acta
, vol.1778
, pp. 398-404
-
-
Cairo, E.R.1
Friedrich, T.2
Swarts, H.G.3
Knoers, N.V.4
Bindels, R.J.5
Monnens, L.A.6
Willems, P.H.7
De Pont, J.J.8
Koenderink, J.B.9
-
160
-
-
49949110312
-
Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel
-
Sha, Q., Pearson, W., Burcea, L. C., Wigfall, D. A., Schlesinger, P. H., Nichols, C. G. and Mercer, R. W. (2008) Human FXYD2 G41R mutation responsible for renal hypomagnesemia behaves as an inward-rectifying cation channel. Am. J. Physiol. Renal Physiol. 295, F91-F99
-
(2008)
Am. J. Physiol. Renal Physiol
, vol.295
-
-
Sha, Q.1
Pearson, W.2
Burcea, L.C.3
Wigfall, D.A.4
Schlesinger, P.H.5
Nichols, C.G.6
Mercer, R.W.7
-
161
-
-
0013976561
-
A new familial disorder characterized by hypokalemia and hypomagnesemia
-
Gitelman, H. J., Graham, J. B. and Welt, L. G. (1966) A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans. Assoc. Am. Physicians 79, 221-235
-
(1966)
Trans. Assoc. Am. Physicians
, vol.79
, pp. 221-235
-
-
Gitelman, H.J.1
Graham, J.B.2
Welt, L.G.3
-
162
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
Simon, D. B., Nelson-Williams, C., Bia, M. J., Ellison, D., Karet, F. E., Molina, A. M., Vaara, I., Iwata, F., Cushner, H. M., Koolen, M. et al. (1996) Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat. Genet. 12, 24-30
-
(1996)
Nat. Genet
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
Ellison, D.4
Karet, F.E.5
Molina, A.M.6
Vaara, I.7
Iwata, F.8
Cushner, H.M.9
Koolen, M.10
-
163
-
-
0033914836
-
Calcium and sodium transport by the distal convoluted tubule of the rat
-
Costanzo, L. S., Windhager, E. E. and Ellison, D. H. (1978) Calcium and sodium transport by the distal convoluted tubule of the rat. J. Am. Soc. Nephrol. 11, 1562-1580
-
(1978)
J. Am. Soc. Nephrol
, vol.11
, pp. 1562-1580
-
-
Costanzo, L.S.1
Windhager, E.E.2
Ellison, D.H.3
-
164
-
-
0018077536
-
Thiazide-induced hypomagnesemia
-
Moore, M. J. (1978) Thiazide-induced hypomagnesemia. JAMA, J. Am. Med. Assoc. 240, 1241
-
(1978)
JAMA, J. Am. Med. Assoc
, vol.240
, pp. 1241
-
-
Moore, M.J.1
-
165
-
-
0031919152
-
Codependence of renal calcium and sodium transport
-
Friedman, P. A. (1998) Codependence of renal calcium and sodium transport. Annu. Rev. Physiol. 60, 179-197
-
(1998)
Annu. Rev. Physiol
, vol.60
, pp. 179-197
-
-
Friedman, P.A.1
-
167
-
-
4344643606
-
2+ handling in a mouse model for Gitelman's syndrome
-
2+ handling in a mouse model for Gitelman's syndrome. J. Am. Soc. Nephrol. 15, 2276-2288
-
(2004)
J. Am. Soc. Nephrol
, vol.15
, pp. 2276-2288
-
-
Loffing, J.1
Vallon, V.2
Loffing-Cueni, D.3
Aregger, F.4
Richter, K.5
Pietri, L.6
Bloch-Faure, M.7
Hoenderop, J.G.8
Shull, G.E.9
Meneton, P.10
Kaissling, B.11
-
169
-
-
0029827662
-
Thiazide treatment of rats provokes apoptosis in distal tubule cells
-
Loffing, J., Loffing-Cueni, D., Hegyi, I., Kaplan, M. R., Hebert, S. C., Le Hir, M. and Kaissling, B. (1996) Thiazide treatment of rats provokes apoptosis in distal tubule cells. Kidney Int. 50, 1180-1190
-
(1996)
Kidney Int
, vol.50
, pp. 1180-1190
-
-
Loffing, J.1
Loffing-Cueni, D.2
Hegyi, I.3
Kaplan, M.R.4
Hebert, S.C.5
Le Hir, M.6
Kaissling, B.7
-
170
-
-
0000975928
-
Effect of aldosterone on the metabolism of magnesium
-
Horton, R. and Biglieri, E. G. (1962) Effect of aldosterone on the metabolism of magnesium. J. Clin. Endocrinol. Metab. 22, 1187-1192
-
(1962)
J. Clin. Endocrinol. Metab
, vol.22
, pp. 1187-1192
-
-
Horton, R.1
Biglieri, E.G.2
-
171
-
-
0033695807
-
Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndromes
-
Ellison, D. H. (2000) Divalent cation transport by the distal nephron: insights from Bartter's and Gitelman's syndromes. Am. J. Physiol. Renal Physiol. 279, F616-F625
-
(2000)
Am. J. Physiol. Renal Physiol
, vol.279
-
-
Ellison, D.H.1
-
172
-
-
42049100585
-
Downregulation of renal TRPM7 and increased inflammation and fibrosis in aldosterone-infused mice: Effects of magnesium
-
Sontia, B., Montezano, A. C., Paravicini, T., Tabet, F. and Touyz, R. M. (2008) Downregulation of renal TRPM7 and increased inflammation and fibrosis in aldosterone-infused mice: effects of magnesium. Hypertension 51, 915-921
-
(2008)
Hypertension
, vol.51
, pp. 915-921
-
-
Sontia, B.1
Montezano, A.C.2
Paravicini, T.3
Tabet, F.4
Touyz, R.M.5
-
173
-
-
0028356071
-
Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome
-
Colussi, G., Rombola, G., De Ferrari, M. E., Macaluso, M. and Minetti, L. (1994) Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. Am. J. Nephrol. 14, 127-135
-
(1994)
Am. J. Nephrol
, vol.14
, pp. 127-135
-
-
Colussi, G.1
Rombola, G.2
De Ferrari, M.E.3
Macaluso, M.4
Minetti, L.5
-
174
-
-
0030923557
-
Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
-
Bruce, L. J., Cope, D. L., Jones, G. K., Schofield, A. E., Burley, M., Povey, S., Unwin, R. J., Wrong, O. and Tanner, M. J. (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J. Clin. Invest. 100, 1693-1707
-
(1997)
J. Clin. Invest
, vol.100
, pp. 1693-1707
-
-
Bruce, L.J.1
Cope, D.L.2
Jones, G.K.3
Schofield, A.E.4
Burley, M.5
Povey, S.6
Unwin, R.J.7
Wrong, O.8
Tanner, M.J.9
-
175
-
-
0032943534
-
+-ATPase cause renal tubular acidosis with sensorineural deafness
-
+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat. Genet. 21, 84-90
-
(1999)
Nat. Genet
, vol.21
, pp. 84-90
-
-
Karet, F.E.1
Finberg, K.E.2
Nelson, R.D.3
Nayir, A.4
Mocan, H.5
Sanjad, S.A.6
Rodriguez-Soriano, J.7
Santos, F.8
Cremers, C.W.9
Di Pietro, A.10
-
176
-
-
0033812944
-
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
-
Smith, A. N., Skaug, J., Choate, K. A., Nayir, A., Bakkaloglu, A., Ozen, S., Hulton, S. A., Sanjad, S. A., Al-Sabban, E. A., Lifton, R. P. et al. (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat. Genet. 26, 71-75
-
(2000)
Nat. Genet
, vol.26
, pp. 71-75
-
-
Smith, A.N.1
Skaug, J.2
Choate, K.A.3
Nayir, A.4
Bakkaloglu, A.5
Ozen, S.6
Hulton, S.A.7
Sanjad, S.A.8
Al-Sabban, E.A.9
Lifton, R.P.10
-
177
-
-
0142057364
-
Bone buffering of acid and base in humans
-
Lemann, Jr, J., Bushinsky, D. A. and Hamm, L. L. (2003) Bone buffering of acid and base in humans. Am. J. Physiol. Renal Physiol. 285, F811-F832
-
(2003)
Am. J. Physiol. Renal Physiol
, vol.285
-
-
Lemann Jr, J.1
Bushinsky, D.A.2
Hamm, L.L.3
-
178
-
-
0018648140
-
Effects of metabolic acidosis and alkalosis on sodium and calcium transport in the dog kidney
-
Sutton, R. A., Wong, N. L. and Dirks, J. H. (1979) Effects of metabolic acidosis and alkalosis on sodium and calcium transport in the dog kidney. Kidney Int. 15, 520-533
-
(1979)
Kidney Int
, vol.15
, pp. 520-533
-
-
Sutton, R.A.1
Wong, N.L.2
Dirks, J.H.3
-
180
-
-
33846918601
-
Extracellular pH dynamically controls cell surface delivery of functional TRPV5 channels
-
Lambers, T. T., Oancea, E., de Groot, T., Topala, C. N., Hoenderop, J. G. and Bindels, R. J. (2007) Extracellular pH dynamically controls cell surface delivery of functional TRPV5 channels. Mol. Cell. Biol. 27, 1486-1494
-
(2007)
Mol. Cell. Biol
, vol.27
, pp. 1486-1494
-
-
Lambers, T.T.1
Oancea, E.2
de Groot, T.3
Topala, C.N.4
Hoenderop, J.G.5
Bindels, R.J.6
-
181
-
-
0346435094
-
Mechanism and molecular determinant for regulation of rabbit transient receptor potential type 5 (TRPV5) channel by extracellular pH
-
Yeh, B. I., Sun, T. J., Lee, J. Z., Chen, H. H. and Huang, C. L. (2003) Mechanism and molecular determinant for regulation of rabbit transient receptor potential type 5 (TRPV5) channel by extracellular pH. J. Biol. Chem. 278, 51044-51052
-
(2003)
J. Biol. Chem
, vol.278
, pp. 51044-51052
-
-
Yeh, B.I.1
Sun, T.J.2
Lee, J.Z.3
Chen, H.H.4
Huang, C.L.5
-
182
-
-
0013989538
-
Micropuncture study of the effect of various diuretics on sodium reabsorption by the proximal tubules of the dog
-
Dirks, J. H., Cirksena, W. J. and Berliner, R. W. (1966) Micropuncture study of the effect of various diuretics on sodium reabsorption by the proximal tubules of the dog. J. Clin. Invest. 45, 1875-1885
-
(1966)
J. Clin. Invest
, vol.45
, pp. 1875-1885
-
-
Dirks, J.H.1
Cirksena, W.J.2
Berliner, R.W.3
-
183
-
-
8844267544
-
Acidosis increases magnesiuria in children with distal renal tubular acidosis
-
Ariceta, G., Vallo, A. and Rodriguez-Soriano, J. (2004) Acidosis increases magnesiuria in children with distal renal tubular acidosis. Pediatr. Nephrol. 19, 1367-1370
-
(2004)
Pediatr. Nephrol
, vol.19
, pp. 1367-1370
-
-
Ariceta, G.1
Vallo, A.2
Rodriguez-Soriano, J.3
-
184
-
-
0022575506
-
Effects of acid-base disturbances on renal handling of magnesium in the dog
-
Wong, N. L., Quamme, G. A. and Dirks, J. H. (1986) Effects of acid-base disturbances on renal handling of magnesium in the dog. Clin. Sci. 70, 277-284
-
(1986)
Clin. Sci
, vol.70
, pp. 277-284
-
-
Wong, N.L.1
Quamme, G.A.2
Dirks, J.H.3
-
185
-
-
0034595634
-
WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II
-
Xu, B., English, J. M., Wilsbacher, J. L., Stippec, S., Goldsmith, E. J. and Cobb, M. H. (2000) WNK1, a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomain II. J. Biol. Chem. 275, 16795-16801
-
(2000)
J. Biol. Chem
, vol.275
, pp. 16795-16801
-
-
Xu, B.1
English, J.M.2
Wilsbacher, J.L.3
Stippec, S.4
Goldsmith, E.J.5
Cobb, M.H.6
-
186
-
-
0035817725
-
WNK kinases, a novel protein kinase subfamily in multi-cellular organisms
-
Verissimo, F. and Jordan, P. (2001) WNK kinases, a novel protein kinase subfamily in multi-cellular organisms. Oncogene 20, 5562-5569
-
(2001)
Oncogene
, vol.20
, pp. 5562-5569
-
-
Verissimo, F.1
Jordan, P.2
-
187
-
-
10744226663
-
Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention
-
Zambrowicz, B. P., Abuin, A., Ramirez-Solis, R., Richter, L. J., Piggott, J., BeltrandelRio, H., Buxton, E. C., Edwards, J., Finch, R. A., Friddle, C. J. et al. (2003) Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc. Natl. Acad. Sci. U.S.A. 100, 14109-14114
-
(2003)
Proc. Natl. Acad. Sci. U.S.A
, vol.100
, pp. 14109-14114
-
-
Zambrowicz, B.P.1
Abuin, A.2
Ramirez-Solis, R.3
Richter, L.J.4
Piggott, J.5
BeltrandelRio, H.6
Buxton, E.C.7
Edwards, J.8
Finch, R.A.9
Friddle, C.J.10
-
188
-
-
17944373014
-
Human hypertension caused by mutations in WNK kinases
-
Wilson, F. H., Disse-Nicodeme, S., Choate, K. A., Ishikawa, K., Nelson-Williams, C., Desitter, I., Gunel, M., Milford, D. V., Lipkin, G.W., Achard, J. M. et al. (2001) Human hypertension caused by mutations in WNK kinases. Science 293, 1107-1112
-
(2001)
Science
, vol.293
, pp. 1107-1112
-
-
Wilson, F.H.1
Disse-Nicodeme, S.2
Choate, K.A.3
Ishikawa, K.4
Nelson-Williams, C.5
Desitter, I.6
Gunel, M.7
Milford, D.V.8
Lipkin, G.W.9
Achard, J.M.10
-
189
-
-
0022699486
-
The syndrome of hypertension and hyperkalemia with normal glomerular filtration rate: Gordon's syndrome
-
Gordon, R. D. (1986) The syndrome of hypertension and hyperkalemia with normal glomerular filtration rate: Gordon's syndrome. Aust. NZ J. Med. 16, 183-184
-
(1986)
Aust. NZ J. Med
, vol.16
, pp. 183-184
-
-
Gordon, R.D.1
-
190
-
-
0037382807
-
WNK kinases regulate thiazide-sensitive Na-Cl cotransport
-
Yang, C. L., Angell, J., Mitchell, R. and Ellison, D. H. (2003) WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J. Clin. Invest. 111, 1039-1045
-
(2003)
J. Clin. Invest
, vol.111
, pp. 1039-1045
-
-
Yang, C.L.1
Angell, J.2
Mitchell, R.3
Ellison, D.H.4
-
191
-
-
0345659215
-
+ secretion
-
+ secretion. Nat. Genet. 35, 372-376
-
(2003)
Nat. Genet
, vol.35
, pp. 372-376
-
-
Kahle, K.T.1
Wilson, F.H.2
Leng, Q.3
Lalioti, M.D.4
O'Connell, A.D.5
Dong, K.6
Rapson, A.K.7
MacGregor, G.G.8
Giebisch, G.9
Hebert, S.C.10
Lifton, R.P.11
-
192
-
-
31944441600
-
Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms
-
Lazrak, A., Liu, Z. and Huang, C. L. (2006) Antagonistic regulation of ROMK by long and kidney-specific WNK1 isoforms. Proc. Natl. Acad. Sci. U.S.A. 103, 1615-1620
-
(2006)
Proc. Natl. Acad. Sci. U.S.A
, vol.103
, pp. 1615-1620
-
-
Lazrak, A.1
Liu, Z.2
Huang, C.L.3
-
193
-
-
36048938340
-
The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complex
-
Yang, C. L., Zhu, X. and Ellison, D. H. (2007) The thiazide-sensitive Na-Cl cotransporter is regulated by a WNK kinase signaling complex. J. Clin. Invest. 117, 3403-3411
-
(2007)
J. Clin. Invest
, vol.117
, pp. 3403-3411
-
-
Yang, C.L.1
Zhu, X.2
Ellison, D.H.3
-
194
-
-
0024597863
-
Chloride-shunt' syndrome: An overlooked cause of renal hypercalciuria
-
Rodriguez-Soriano, J., Vallo, A. and Dominguez, M. J. (1989) 'Chloride-shunt' syndrome: an overlooked cause of renal hypercalciuria. Pediatr. Nephrol. 3, 113-121
-
(1989)
Pediatr. Nephrol
, vol.3
, pp. 113-121
-
-
Rodriguez-Soriano, J.1
Vallo, A.2
Dominguez, M.J.3
-
195
-
-
17144466047
-
Recurrent calcium stones in Gordon's syndrome
-
Stratton, J. D., McNicholas, T. A. and Farrington, K. (1998) Recurrent calcium stones in Gordon's syndrome. Br. J. Urol. 82, 925
-
(1998)
Br. J. Urol
, vol.82
, pp. 925
-
-
Stratton, J.D.1
McNicholas, T.A.2
Farrington, K.3
-
196
-
-
0037447489
-
Familial hyperkalemic hypertension: Phenotypic analysis in a large family with the WNK1 deletion mutation
-
Achard, J. M., Warnock, D. G., Disse-Nicodeme, S., Fiquet-Kempf, B., Corvol, P., Fournier, A. and Jeunemaitre, X. (2003) Familial hyperkalemic hypertension: phenotypic analysis in a large family with the WNK1 deletion mutation. Am. J. Med. 114, 495-498
-
(2003)
Am. J. Med
, vol.114
, pp. 495-498
-
-
Achard, J.M.1
Warnock, D.G.2
Disse-Nicodeme, S.3
Fiquet-Kempf, B.4
Corvol, P.5
Fournier, A.6
Jeunemaitre, X.7
-
197
-
-
0036328423
-
-
Mayan, H., Vered, I., Mouallem, M., Tzadok-Witkon, M., Pauzner, R. and Farfel, Z. (2002) Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J. Clin. Endocrinol. Metab. 87, 3248-3254
-
Mayan, H., Vered, I., Mouallem, M., Tzadok-Witkon, M., Pauzner, R. and Farfel, Z. (2002) Pseudohypoaldosteronism type II: marked sensitivity to thiazides, hypercalciuria, normomagnesemia, and low bone mineral density. J. Clin. Endocrinol. Metab. 87, 3248-3254
-
-
-
-
198
-
-
4043170112
-
Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: Description of a large family with the Q565E WNK4 mutation
-
Mayan, H., Munter, G., Shaharabany, M., Mouallem, M., Pauzner, R., Holtzman, E. J. and Farfel, Z. (2004) Hypercalciuria in familial hyperkalemia and hypertension accompanies hyperkalemia and precedes hypertension: description of a large family with the Q565E WNK4 mutation. J. Clin. Endocrinol. Metab. 89, 4025-4030
-
(2004)
J. Clin. Endocrinol. Metab
, vol.89
, pp. 4025-4030
-
-
Mayan, H.1
Munter, G.2
Shaharabany, M.3
Mouallem, M.4
Pauzner, R.5
Holtzman, E.J.6
Farfel, Z.7
-
199
-
-
0019944166
-
Tubular mechanism for the spontaneous hypercalciuria in laboratory rat
-
Lau, K. and Eby, B. K. (1982) Tubular mechanism for the spontaneous hypercalciuria in laboratory rat. J. Clin. Invest. 70, 835-844
-
(1982)
J. Clin. Invest
, vol.70
, pp. 835-844
-
-
Lau, K.1
Eby, B.K.2
-
200
-
-
33846884647
-
WNK4 enhances TRPV5-mediated calcium transport: Potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4
-
Jiang, Y., Ferguson, W. B. and Peng, J. B. (2007) WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4. Am. J. Physiol. Renal Physiol. F545-F554
-
(2007)
Am. J. Physiol. Renal Physiol
-
-
Jiang, Y.1
Ferguson, W.B.2
Peng, J.B.3
-
201
-
-
0020123796
-
Phosphate transport in the light segment of the rabbit cortical collecting tubule
-
Shareghi, G. R. and Agus, Z. S. (1982) Phosphate transport in the light segment of the rabbit cortical collecting tubule. Am. J. Physiol. 242, F379-F384
-
(1982)
Am. J. Physiol
, vol.242
-
-
Shareghi, G.R.1
Agus, Z.S.2
-
202
-
-
0018935959
-
Calcium and magnesium transport along the inner medullary collecting duct of the rat
-
Bengele, H. H., Alexander, E. A. and Lechene, C. P. (1980) Calcium and magnesium transport along the inner medullary collecting duct of the rat. Am. J. Physiol. 239, F24-F29
-
(1980)
Am. J. Physiol
, vol.239
-
-
Bengele, H.H.1
Alexander, E.A.2
Lechene, C.P.3
-
203
-
-
8444228909
-
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA
-
Wilson, F. H., Hariri, A., Farhi, A., Zhao, H., Petersen, K. F., Toka, H. R., Nelson-Williams, C., Raja, K. M., Kashgarian, M., Shulman, G. I. et al. (2004) A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 306, 1190-1194
-
(2004)
Science
, vol.306
, pp. 1190-1194
-
-
Wilson, F.H.1
Hariri, A.2
Farhi, A.3
Zhao, H.4
Petersen, K.F.5
Toka, H.R.6
Nelson-Williams, C.7
Raja, K.M.8
Kashgarian, M.9
Shulman, G.I.10
-
204
-
-
0015966367
-
Factors governing the transepithelial potential difference across the proximal tubule of the rat kidney
-
Barratt, L. J., Rector, Jr, F. C., Kokko, J. P. and Seldin, D. W. (1974) Factors governing the transepithelial potential difference across the proximal tubule of the rat kidney. J. Clin. Invest. 53, 454-464
-
(1974)
J. Clin. Invest
, vol.53
, pp. 454-464
-
-
Barratt, L.J.1
Rector Jr, F.C.2
Kokko, J.P.3
Seldin, D.W.4
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