-
1
-
-
0002660675
-
Hypokalaemic tubular disorders: The hyperprostaglandin E syndrome and Gitelman-Bartter syndrome
-
edited by Davison AM, Cameron JS, Grünfeld JP, Kerr DN, Ritz E, Oxford, Oxford University Press
-
nd Ed., edited by Davison AM, Cameron JS, Grünfeld JP, Kerr DN, Ritz E, Oxford, Oxford University Press, 1998, pp 1085-1094
-
(1998)
nd Ed.
, pp. 1085-1094
-
-
Seyberth, H.1
Soergel, M.2
Koeckerling, A.3
-
2
-
-
0035459672
-
Hypomagnesemia. A review of pathophysiological, clinical and therapeutical aspects
-
Iannello S, Belfiore F: Hypomagnesemia. A review of pathophysiological, clinical and therapeutical aspects. Panminerva Med 43: 177-209, 2001
-
(2001)
Panminerva Med
, vol.43
, pp. 177-209
-
-
Iannello, S.1
Belfiore, F.2
-
3
-
-
0035755504
-
Prevalence of hypomagnesemia in an unselected German population of 16,000 individuals
-
Schimatschek HF, Rempis R: Prevalence of hypomagnesemia in an unselected German population of 16,000 individuals. Magnes Res 14: 283-290, 2001
-
(2001)
Magnes Res
, vol.14
, pp. 283-290
-
-
Schimatschek, H.F.1
Rempis, R.2
-
4
-
-
0033864361
-
Hypomagnesemia in acute and chronic illness
-
Innerarity S: Hypomagnesemia in acute and chronic illness. Crit Care Nurs Q 23: 1-19, 2000
-
(2000)
Crit Care Nurs Q
, vol.23
, pp. 1-19
-
-
Innerarity, S.1
-
5
-
-
0033385353
-
Magnesium in disease: A review with special emphasis on the serum ionized magnesium
-
Sanders GT, Huijgen HJ, Sanders R: Magnesium in disease: A review with special emphasis on the serum ionized magnesium. Clin Chem Lab Med 37: 1011-1033, 1999
-
(1999)
Clin Chem Lab Med
, vol.37
, pp. 1011-1033
-
-
Sanders, G.T.1
Huijgen, H.J.2
Sanders, R.3
-
6
-
-
0028359329
-
Dietary magnesium prevents fructose-induced insulin insensitivity in rats
-
Balon TW, Jasman A, Scott S, Meehan WP, Rude RK, Nadler JL: Dietary magnesium prevents fructose-induced insulin insensitivity in rats. Hypertension 23: 1036-1039, 1994
-
(1994)
Hypertension
, vol.23
, pp. 1036-1039
-
-
Balon, T.W.1
Jasman, A.2
Scott, S.3
Meehan, W.P.4
Rude, R.K.5
Nadler, J.L.6
-
7
-
-
0036718379
-
Protective role of magnesium in cardiovascular diseases: A review
-
Chakraborti S, Chakraborti T, Mandal M, Mandal A, Das S, Ghosh S: Protective role of magnesium in cardiovascular diseases: A review. Mol Cell Biochem 238: 163-179, 2002
-
(2002)
Mol Cell Biochem
, vol.238
, pp. 163-179
-
-
Chakraborti, S.1
Chakraborti, T.2
Mandal, M.3
Mandal, A.4
Das, S.5
Ghosh, S.6
-
8
-
-
0033805777
-
Hypomagnesaemia in chronic, stable asthmatics: Prevalence, correlation with severity and hospitalization
-
Alamoudi OS: Hypomagnesaemia in chronic, stable asthmatics: Prevalence, correlation with severity and hospitalization. Eur Respir J 16: 427-431, 2000
-
(2000)
Eur Respir J
, vol.16
, pp. 427-431
-
-
Alamoudi, O.S.1
-
9
-
-
0034243628
-
Epithelial magnesium transport and regulation by the kidney
-
Quamme GA, de Rouffignac C: Epithelial magnesium transport and regulation by the kidney. Front Biosci 5: D694-D711, 2000
-
(2000)
Front Biosci
, vol.5
-
-
Quamme, G.A.1
De Rouffignac, C.2
-
10
-
-
0031920998
-
Microbial magnesium transport: Unusual transporters searching for identity
-
Smith RL, Maguire ME: Microbial magnesium transport: Unusual transporters searching for identity. Mol Microbiol 28: 217-226, 1998
-
(1998)
Mol Microbiol
, vol.28
, pp. 217-226
-
-
Smith, R.L.1
Maguire, M.E.2
-
11
-
-
0035542783
-
A novel family of magnesium transport genes in Arabidopsis
-
Li L, Tutone AF, Drummond RS, Gardner RC, Luan S: A novel family of magnesium transport genes in Arabidopsis. Plant Cell 13: 2761-2775, 2001
-
(2001)
Plant Cell
, vol.13
, pp. 2761-2775
-
-
Li, L.1
Tutone, A.F.2
Drummond, R.S.3
Gardner, R.C.4
Luan, S.5
-
12
-
-
0035280637
-
The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter
-
Zsurka G, Gregan J, Schweyen RJ: The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter. Genomics 72: 158-168, 2001
-
(2001)
Genomics
, vol.72
, pp. 158-168
-
-
Zsurka, G.1
Gregan, J.2
Schweyen, R.J.3
-
13
-
-
0033779541
-
Inherited disorders of renal magnesium handling
-
Cole DE, Quamme GA: Inherited disorders of renal magnesium handling. J Am Soc Nephrol 11: 1937-1947, 2000
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1937-1947
-
-
Cole, D.E.1
Quamme, G.A.2
-
14
-
-
0025861521
-
Intestinal absorption of magnesium from food and supplements
-
Fine KD, Santa Ana CA, Porter JL, Fordtran JS: Intestinal absorption of magnesium from food and supplements. J Clin Invest 88: 396-402, 1991
-
(1991)
J Clin Invest
, vol.88
, pp. 396-402
-
-
Fine, K.D.1
Santa Ana, C.A.2
Porter, J.L.3
Fordtran, J.S.4
-
15
-
-
0012249629
-
Physiology and pathophysiology of intestinal absorption of magnesium
-
edited by Massry SG, Morii H, Nishizawa Y, London, Springer-Verlag
-
Kerstan D, Quamme G: Physiology and pathophysiology of intestinal absorption of magnesium. In: Calcium in Internal Medicine, edited by Massry SG, Morii H, Nishizawa Y, London, Springer-Verlag, 2002, pp 171-183
-
(2002)
Calcium in Internal Medicine
, pp. 171-183
-
-
Kerstan, D.1
Quamme, G.2
-
16
-
-
0028220576
-
Renal magnesium handling and its hormonal control
-
de Rouffignac C, Quamme G: Renal magnesium handling and its hormonal control. Physiol Rev 74: 305-322, 1994
-
(1994)
Physiol Rev
, vol.74
, pp. 305-322
-
-
De Rouffignac, C.1
Quamme, G.2
-
17
-
-
0035139184
-
Magnesium transport in the renal distal convoluted tubule
-
Dai LJ, Ritchie G, Kerstan D, Kang HS, Cole DE, Quamme GA: Magnesium transport in the renal distal convoluted tubule. Physiol Rev 81: 51-84, 2001
-
(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
-
18
-
-
0023241734
-
Renal magnesium wasting in two families with autosomal dominant inheritance
-
Geven WB, Monnens LA, Willems HL, Buijs WC, ter Haar BG: Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int 31: 1140-1144, 1987
-
(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
-
19
-
-
0033975516
-
Severe hypomagnesemia in a neonate with isolated renal magnesium loss
-
Meij I, Illy KE, Monnens L: Severe hypomagnesemia in a neonate with isolated renal magnesium loss. Nephron 84: 198, 2000
-
(2000)
Nephron
, vol.84
, pp. 198
-
-
Meij, I.1
Illy, K.E.2
Monnens, L.3
-
20
-
-
0033366704
-
Hereditary isolated renal magnesium loss maps to chromosome 11q23
-
Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F, Reis A, Monnens LA, Knoers NV: Hereditary isolated renal magnesium loss maps to chromosome 11q23. Am J Hum Genet 64: 180-188, 1999
-
(1999)
Am J Hum Genet
, vol.64
, pp. 180-188
-
-
Meij, I.C.1
Saar, K.2
Van den Heuvel, L.P.3
Nuernberg, G.4
Vollmer, M.5
Hildebrandt, F.6
Reis, A.7
Monnens, L.A.8
Knoers, N.V.9
-
21
-
-
0034836615
-
Immunocytochemical localization of Na-K-ATPase alpha- and gamma-subunits in rat kidney
-
Wetzel RK, Sweadner KJ: Immunocytochemical localization of Na-K-ATPase alpha- and gamma-subunits in rat kidney. Am J Physiol Renal Physiol 281: F531-F545, 2001
-
(2001)
Am J Physiol Renal Physiol
, vol.281
-
-
Wetzel, R.K.1
Sweadner, K.J.2
-
22
-
-
0033763089
-
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+), K(+)-ATPase gamma-subunit
-
Meij IC, Koenderink JB, van Bokhoven H, Assink KF, Groenestege WT, de Pont JJ, Bindels RJ, Monnens LA, van den Heuvel LP, Knoers NV: Dominant isolated renal magnesium loss is caused by misrouting of the Na(+), K(+)-ATPase gamma-subunit. Nat Genet 26: 265-266, 2000
-
(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
-
23
-
-
0037036441
-
Distinct regulatory effects of the Na, K-ATPase gamma subunit
-
Pu HX, Scanzano R, Blostein R: Distinct regulatory effects of the Na, K-ATPase gamma subunit. J Biol Chem 277: 20270-20276, 2002
-
(2002)
J Biol Chem
, vol.277
, pp. 20270-20276
-
-
Pu, H.X.1
Scanzano, R.2
Blostein, R.3
-
24
-
-
0012296824
-
-
Thesis, Department of Pediatrics and Human Genetics. Nijmegen, Catholic University Nijmegen
-
Meij IC: Gaining Insights in Renal Magnesium Handling. In: Thesis, Department of Pediatrics and Human Genetics. Nijmegen, Catholic University Nijmegen, 2002
-
(2002)
Gaining Insights in Renal Magnesium Handling
-
-
Meij, I.C.1
-
25
-
-
0036169182
-
Genetic heterogeneity in familial renal magnesium wasting
-
Kantorovich V, Adams JS, Gaines JE, Guo X, Pandian MR, Cohn DH, Rude RK: Genetic heterogeneity in familial renal magnesium wasting. J Clin Endocrinol Metab 87: 612-617, 2002
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 612-617
-
-
Kantorovich, V.1
Adams, J.S.2
Gaines, J.E.3
Guo, X.4
Pandian, M.R.5
Cohn, D.H.6
Rude, R.K.7
-
26
-
-
0023513620
-
Isolated autosomal recessive renal magnesium loss in two sisters
-
Geven WB, Monnens LA, Willems JL, Buijs W, Hamel CJ: Isolated autosomal recessive renal magnesium loss in two sisters. Clin Genet 32: 398-402, 1987
-
(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
-
27
-
-
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 MF, Drash AL, Linarelli LG, De Rubertis FR, Davis BB: Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone). Metabolism 21: 905-920, 1972
-
(1972)
Metabolism
, 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
-
28
-
-
0017852004
-
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings
-
Manz F, Scharer K, Janka P, Lombeck J: Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings. Eur J Pediatr 128: 67-79, 1978
-
(1978)
Eur J Pediatr
, vol.128
, pp. 67-79
-
-
Manz, F.1
Scharer, K.2
Janka, P.3
Lombeck, J.4
-
30
-
-
0028872719
-
Familial hypomagnesaemia-hypercalciuria leading to end-stage renal failure
-
Nicholson JC, Jones CL, Powell HR, Walker RG, McCredie DA: Familial hypomagnesaemia-hypercalciuria leading to end-stage renal failure. Pediatr Nephrol 9: 74-76, 1995
-
(1995)
Pediatr Nephrol
, vol.9
, pp. 74-76
-
-
Nicholson, J.C.1
Jones, C.L.2
Powell, H.R.3
Walker, R.G.4
McCredie, D.A.5
-
31
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga M, Vara J, Gonzalez-Parra E, Andres A, Alamo C, Araque A, Ortiz A, Rodicio JL: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 47: 1419-1425, 1995
-
(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
-
32
-
-
0034093572
-
Hypomagnesaemia-hypercalciurianephrocalcinosis: A report of nine cases and a review
-
Benigno V, Canonica CS, Bettinelli A, von Vigier RO, Truttmann AC, Bianchetti MG: Hypomagnesaemia-hypercalciurianephrocalcinosis: A report of nine cases and a review. Nephrol Dial Transplant 15: 605-610, 2000
-
(2000)
Nephrol Dial Transplant
, vol.15
, pp. 605-610
-
-
Benigno, V.1
Canonica, C.S.2
Bettinelli, A.3
Von Vigier, R.O.4
Truttmann, A.C.5
Bianchetti, M.G.6
-
33
-
-
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 KE, Seeman T, Sulakova T, Kuwertz-Broking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Scharer K, Seyberth HW, Konrad M: Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 12: 1872-1881, 2001
-
(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
Gregoric, A.11
Palcoux, J.B.12
Tasic, V.13
Manz, F.14
Scharer, K.15
Seyberth, H.W.16
Konrad, M.17
-
34
-
-
0033516683
-
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
-
Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, Casari G, Bettinelli A, Colussi G, Rodriguez-Soriano J, McCredie D, Milford D, Sanjad S, Lifton RP: Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 285: 103-106, 1999
-
(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
McCredie, D.11
Milford, D.12
Sanjad, S.13
Lifton, R.P.14
-
35
-
-
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, Houillier P: Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle. Kidney Int 59: 2206- 2215, 2001
-
(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
-
36
-
-
0033582334
-
Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands
-
Morita K, Furuse M, Fujimoto K, Tsukita S: Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. Proc Natl Acad Sci USA 96: 511-516, 1999
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 511-516
-
-
Morita, K.1
Furuse, M.2
Fujimoto, K.3
Tsukita, S.4
-
37
-
-
0035013499
-
Regulated expression of claudin-4 decreases paracellular conductance through a selective decrease in sodium permeability
-
Van Itallie C, Rahner C, Anderson JM: Regulated expression of claudin-4 decreases paracellular conductance through a selective decrease in sodium permeability. J Clin Invest 107: 1319-1327, 2001
-
(2001)
J Clin Invest
, vol.107
, pp. 1319-1327
-
-
Van Itallie, C.1
Rahner, C.2
Anderson, J.M.3
-
38
-
-
0036085515
-
Claudins create charge-selective channels in the paracellular pathway between epithelial cells
-
Colegio OR, Van Itallie CM, McCrea HJ, Rahner C, Anderson JM: Claudins create charge-selective channels in the paracellular pathway between epithelial cells. Am J Physiol Cell Physiol 283: C142-C147, 2002
-
(2002)
Am J Physiol Cell Physiol
, vol.283
-
-
Colegio, O.R.1
Van Itallie, C.M.2
McCrea, H.J.3
Rahner, C.4
Anderson, J.M.5
-
39
-
-
0034665199
-
A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle
-
Ohba Y, Kitagawa H, Kitoh K, Sasaki Y, Takami M, Shinkai Y, Kunieda T: A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle. Genomics 68: 229-236, 2000
-
(2000)
Genomics
, vol.68
, pp. 229-236
-
-
Ohba, Y.1
Kitagawa, H.2
Kitoh, K.3
Sasaki, Y.4
Takami, M.5
Shinkai, Y.6
Kunieda, T.7
-
40
-
-
0035200258
-
Primary gene structure and expression studies of rodent paracellin-1
-
Weber S, Schlingmann KP, Peters M, Nejsum LN, Nielsen S, Engel H, Grzeschik KH, Seyberth HW, Grone HJ, Nusing R, Konrad M: Primary gene structure and expression studies of rodent paracellin-1. J Am Soc Nephrol 12: 2664-2672, 2001
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 2664-2672
-
-
Weber, S.1
Schlingmann, K.P.2
Peters, M.3
Nejsum, L.N.4
Nielsen, S.5
Engel, H.6
Grzeschik, K.H.7
Seyberth, H.W.8
Grone, H.J.9
Nusing, R.10
Konrad, M.11
-
41
-
-
0034068924
-
Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis
-
Hirano T, Kobayashi N, Itoh T, Takasuga A, Nakamaru T, Hirotsune S, Sugimoto Y: Null mutation of PCLN-1/Claudin-16 results in bovine chronic interstitial nephritis. Genome Res 10: 659-663, 2000
-
(2000)
Genome Res
, vol.10
, pp. 659-663
-
-
Hirano, T.1
Kobayashi, N.2
Itoh, T.3
Takasuga, A.4
Nakamaru, T.5
Hirotsune, S.6
Sugimoto, Y.7
-
42
-
-
0037956769
-
Paracellin-1 kock-out mouse model of recessive renal hypomagnesemia, hypercalciuria and nephrocalcinosis
-
Lu Y, Choate KA, Wang T, Lifton RP: Paracellin-1 kock-out mouse model of recessive renal hypomagnesemia, hypercalciuria and nephrocalcinosis [Abstract]. J Am Soc Nephrol 12: 2001
-
(2001)
J Am Soc Nephrol
, vol.12
-
-
Lu, Y.1
Choate, K.A.2
Wang, T.3
Lifton, R.P.4
-
44
-
-
0012294337
-
Mutationen im PDZ-Motif von Paracellin-1 als Ursache der Hyperkalziurie im Kindesalter
-
Müller D, Claverie-Martin F, Eggert P, Garcia-Nieto V: Mutationen im PDZ-Motif von Paracellin-1 als Ursache der Hyperkalziurie im Kindesalter [Abstract]. Nieren-und Hochdruckkrankheiten 31: 52, 2002
-
(2002)
Nieren-und Hochdruckkrankheiten
, vol.31
, pp. 52
-
-
Müller, D.1
Claverie-Martin, F.2
Eggert, P.3
Garcia-Nieto, V.4
-
45
-
-
0014249537
-
Primary hypomagnesemia with secondary hypocalcemia in an infant
-
Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D: Primary hypomagnesemia with secondary hypocalcemia in an infant. Pediatrics 41: 385-402, 1968
-
(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
-
46
-
-
0015515015
-
Evidence for parathyroid failure in magnesium deficiency
-
Anast CS, Mohs JM, Kaplan SL, Burns TW: Evidence for parathyroid failure in magnesium deficiency. Science 177: 606- 608, 1972
-
(1972)
Science
, vol.177
, pp. 606-608
-
-
Anast, C.S.1
Mohs, J.M.2
Kaplan, S.L.3
Burns, T.W.4
-
47
-
-
0031892059
-
Clinical presentation and outcome in primary familial hypomagnesaemia
-
Shalev H, Phillip M, Galil A, Carmi R, Landau D: Clinical presentation and outcome in primary familial hypomagnesaemia. Arch Dis Child 78: 127-130, 1998
-
(1998)
Arch Dis Child
, vol.78
, pp. 127-130
-
-
Shalev, H.1
Phillip, M.2
Galil, A.3
Carmi, R.4
Landau, D.5
-
48
-
-
0034002903
-
Primary infantile hypomagnesaemia: Outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion
-
Cole DE, Kooh SW, Vieth R: Primary infantile hypomagnesaemia: Outcome after 21 years and treatment with continuous nocturnal nasogastric magnesium infusion. Eur J Pediatr 159: 38-43, 2000
-
(2000)
Eur J Pediatr
, vol.159
, pp. 38-43
-
-
Cole, D.E.1
Kooh, S.W.2
Vieth, R.3
-
49
-
-
0018645514
-
Studies in primary hypomagnesaemia: Evidence for defective carrier-mediated small intestinal transport of magnesium
-
Milla PJ, Aggett PJ, Wolff OH, Harries JT: Studies in primary hypomagnesaemia: Evidence for defective carrier-mediated small intestinal transport of magnesium. Gut 20: 1028-1033, 1979
-
(1979)
Gut
, vol.20
, pp. 1028-1033
-
-
Milla, P.J.1
Aggett, P.J.2
Wolff, O.H.3
Harries, J.T.4
-
50
-
-
0024518053
-
Primary hypomagnesemia with a probable double magnesium transport defect
-
Matzkin H, Lotan D, Boichis H: Primary hypomagnesemia with a probable double magnesium transport defect. Nephron 52: 83-86, 1989
-
(1989)
Nephron
, vol.52
, pp. 83-86
-
-
Matzkin, H.1
Lotan, D.2
Boichis, H.3
-
51
-
-
9844227346
-
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: Genetic linkage mapping and analysis of a balanced translocation breakpoint
-
Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC: Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: Genetic linkage mapping and analysis of a balanced translocation breakpoint. Hum Mol Genet 6: 1491-1497, 1997
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1491-1497
-
-
Walder, R.Y.1
Shalev, H.2
Brennan, T.M.3
Carmi, R.4
Elbedour, K.5
Scott, D.A.6
Hanauer, A.7
Mark, A.L.8
Patil, S.9
Stone, E.M.10
Sheffield, V.C.11
-
52
-
-
0000375316
-
Hypomagnesemia with secondary hypocalcemia (HSH): Narrowing the disease region on chromosome 9
-
Walder RY, Borochowitz Z, Shalev H, Carmi R, Elbedour K, Scott DA, Stone EM, Sheffield VC: Hypomagnesemia with secondary hypocalcemia (HSH): Narrowing the disease region on chromosome 9 [Abstract]. Am J Hum Genet 65: A451, 1999
-
(1999)
Am J Hum Genet
, vol.65
-
-
Walder, R.Y.1
Borochowitz, Z.2
Shalev, H.3
Carmi, R.4
Elbedour, K.5
Scott, D.A.6
Stone, E.M.7
Sheffield, V.C.8
-
53
-
-
18544369466
-
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM 6, a new member of the TRPM gene family
-
Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 31: 166-170, 2002
-
(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
Dinour, D.10
Syrrou, M.11
Nielsen, S.12
Sassen, M.13
Waldegger, S.14
Seyberth, H.W.15
Konrad, M.16
-
54
-
-
0036592004
-
Mutation of TRPM 6 causes familial hypomagnesemia with secondary hypocalcemia
-
Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC: Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 31: 171-174, 2002
-
(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
-
55
-
-
0034177642
-
From worm to man: Three subfamilies of TRP channels
-
Harteneck C, Plant TD, Schultz G: From worm to man: Three subfamilies of TRP channels. Trends Neurosci 23: 159-166, 2000
-
(2000)
Trends Neurosci
, vol.23
, pp. 159-166
-
-
Harteneck, C.1
Plant, T.D.2
Schultz, G.3
-
56
-
-
0035978239
-
LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability
-
Nadler MJ, Hermosura MC, Inabe K, Perraud AL, Zhu Q, Stokes AJ, Kurosaki T, Kinet JP, Penner R, Scharenberg AM, Fleig A: LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability. Nature 411: 590-595, 2001
-
(2001)
Nature
, vol.411
, pp. 590-595
-
-
Nadler, M.J.1
Hermosura, M.C.2
Inabe, K.3
Perraud, A.L.4
Zhu, Q.5
Stokes, A.J.6
Kurosaki, T.7
Kinet, J.P.8
Penner, R.9
Scharenberg, A.M.10
Fleig, A.11
-
57
-
-
12644260466
-
Identification of a new class of protein kinases represented by eukaryotic elongation factor-2 kinase
-
Ryazanov AG, Ward MD, Mendola CE, Pavur KS, Dorovkov MV, Wiedmann M, Erdjument-Bromage H, Tempst P, Parmer TG, Prostko CR, Germino FJ, Hait WN: Identification of a new class of protein kinases represented by eukaryotic elongation factor-2 kinase. Proc Natl Acad Sci USA 94: 4884-4889, 1997
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 4884-4889
-
-
Ryazanov, A.G.1
Ward, M.D.2
Mendola, C.E.3
Pavur, K.S.4
Dorovkov, M.V.5
Wiedmann, M.6
Erdjument-Bromage, H.7
Tempst, P.8
Parmer, T.G.9
Prostko, C.R.10
Germino, F.J.11
Hait, W.N.12
-
58
-
-
0027765508
-
Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid
-
Brown EM, Gamba G, Riccardi D, Lombardi M, Butters R, Kifor O, Sun A, Hediger MA, Lytton J, Hebert SC: Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid. Nature 366: 575-580, 1993
-
(1993)
Nature
, vol.366
, pp. 575-580
-
-
Brown, E.M.1
Gamba, G.2
Riccardi, D.3
Lombardi, M.4
Butters, R.5
Kifor, O.6
Sun, A.7
Hediger, M.A.8
Lytton, J.9
Hebert, S.C.10
-
59
-
-
0033020243
-
Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function
-
Bai M, Trivedi S, Kifor O, Quinn SJ, Brown EM: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. Proc Natl Acad Sci USA 96: 2834-2839, 1999
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 2834-2839
-
-
Bai, M.1
Trivedi, S.2
Kifor, O.3
Quinn, S.J.4
Brown, E.M.5
-
60
-
-
0032161088
-
Activation of Mg2+/Ca2+ sensing inhibits hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells
-
Bapty BW, Dai LJ, Ritchie G, Canaff L, Hendy GN, Quamme GA: Activation of Mg2+/Ca2+ sensing inhibits hormone-stimulated Mg2+ uptake in mouse distal convoluted tubule cells. Am J Physiol 275: F353-F360, 1998
-
(1998)
Am J Physiol
, vol.275
-
-
Bapty, B.W.1
Dai, L.J.2
Ritchie, G.3
Canaff, L.4
Hendy, G.N.5
Quamme, G.A.6
-
61
-
-
0029951194
-
Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney
-
Hebert SC: Extracellular calcium-sensing receptor: Implications for calcium and magnesium handling in the kidney. Kidney Int 50:2129-2139, 1996
-
(1996)
Kidney Int
, vol.50
, pp. 2129-2139
-
-
Hebert, S.C.1
-
62
-
-
0027787680
-
Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG: Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75: 1297-1303, 1993
-
(1993)
Cell
, vol.75
, pp. 1297-1303
-
-
Pollak, M.R.1
Brown, E.M.2
Chou, Y.H.3
Hebert, S.C.4
Marx, S.J.5
Steinmann, B.6
Levi, T.7
Seidman, C.E.8
Seidman, J.G.9
-
63
-
-
0028220464
-
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype
-
Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, et al: Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype. J Clin Invest 93: 1108-1112, 1994
-
(1994)
J Clin Invest
, vol.93
, pp. 1108-1112
-
-
Pollak, M.R.1
Chou, Y.H.2
Marx, S.J.3
Steinmann, B.4
Cole, D.E.5
Brandi, M.L.6
Papapoulos, S.E.7
Menko, F.H.8
Hendy, G.N.9
Brown, E.M.10
-
64
-
-
0019788427
-
The hypocalciuric or benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds
-
Marx SJ, Attie MF, Levine MA, Spiegel AM, Downs RW Jr, Lasker RD: The hypocalciuric or benign variant of familial hypercalcemia: Clinical and biochemical features in fifteen kindreds. Medicine (Baltimore) 60: 397-412, 1981
-
(1981)
Medicine (Baltimore)
, vol.60
, pp. 397-412
-
-
Marx, S.J.1
Attie, M.F.2
Levine, M.A.3
Spiegel, A.M.4
Downs R.W., Jr.5
Lasker, R.D.6
-
65
-
-
0028037143
-
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation
-
Pollak MR, Brown EM, Estep HL, McLaine PN, Kifor O, Park J, Hebert SC, Seidman CE, Seidman JG: Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 8: 303-307, 1994
-
(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
-
66
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Bamed N, McCredie D, Powell H, Kendall-Taylor P, Brown EM, Thakker RV: A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor [see comments]. N Engl J Med 335: 1115-1122, 1996
-
(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-Bamed, N.7
McCredie, D.8
Powell, H.9
Kendall-Taylor, P.10
Brown, E.M.11
Thakker, R.V.12
-
67
-
-
0032906973
-
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia
-
Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, Fujita T, Arai M, Totsuka Y, Tanaka K, Fukumoto S: A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 84: 363-366, 1999
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 363-366
-
-
Okazaki, R.1
Chikatsu, N.2
Nakatsu, M.3
Takeuchi, Y.4
Ajima, M.5
Miki, J.6
Fujita, T.7
Arai, M.8
Totsuka, Y.9
Tanaka, K.10
Fukumoto, S.11
-
68
-
-
0035138842
-
Extracellular calcium sensing and extracellular calcium signaling
-
Brown EM, MacLeod RJ: Extracellular calcium sensing and extracellular calcium signaling. Physiol Rev 81: 239-297, 2001
-
(2001)
Physiol Rev
, vol.81
, pp. 239-297
-
-
Brown, E.M.1
MacLeod, R.J.2
-
69
-
-
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 RT, Antignac C: 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
-
(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
-
70
-
-
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, Fujita T: Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 360: 692-694, 2002
-
(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
-
71
-
-
0031779521
-
Bartter and related syndromes: The puzzle is almost solved
-
Rodriguez-Soriano J: Bartter and related syndromes: The puzzle is almost solved. Pediatr Nephrol 12: 315-327, 1998
-
(1998)
Pediatr Nephrol
, vol.12
, pp. 315-327
-
-
Rodriguez-Soriano, J.1
-
72
-
-
0028787681
-
Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder
-
Landau D, Shalev H, Ohaly M, Carmi R: Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder. Am J Med Genet 59: 454-459, 1995
-
(1995)
Am J Med Genet
, vol.59
, pp. 454-459
-
-
Landau, D.1
Shalev, H.2
Ohaly, M.3
Carmi, R.4
-
73
-
-
0037082531
-
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
-
Peters M, Jeck N, Reinalter S, Leonhardt A, Tonshoff B, Klaus G, Konrad M, Seyberth HW: Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 112: 183-190, 2002
-
(2002)
Am J Med
, vol.112
, pp. 183-190
-
-
Peters, M.1
Jeck, N.2
Reinalter, S.3
Leonhardt, A.4
Tonshoff, B.5
Klaus, G.6
Konrad, M.7
Seyberth, H.W.8
-
74
-
-
0030357628
-
Impaired response to furosemide in hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle
-
Kockerling A, Reinalter SC, Seyberth HW: Impaired response to furosemide in hyperprostaglandin E syndrome: Evidence for a tubular defect in the loop of Henle. J Pediatr 129: 519-528, 1996
-
(1996)
J Pediatr
, vol.129
, pp. 519-528
-
-
Kockerling, A.1
Reinalter, S.C.2
Seyberth, H.W.3
-
75
-
-
0030032699
-
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
-
Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183-188, 1996
-
(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
-
76
-
-
0029794875
-
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
-
Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP: Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14: 152-156, 1996
-
(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
-
77
-
-
0034625084
-
Uncompensated polyuria in a mouse model of Bartter's syndrome
-
Takahashi N, Chernavvsky DR, Gomez RA, Igarashi P, Gitelman HJ, Smithies O: Uncompensated polyuria in a mouse model of Bartter's syndrome. Proc Natl Acad Sci USA 97: 5434-5439, 2000
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 5434-5439
-
-
Takahashi, N.1
Chernavvsky, D.R.2
Gomez, R.A.3
Igarashi, P.4
Gitelman, H.J.5
Smithies, O.6
-
78
-
-
0032209771
-
PGE2 stimulates Mg2+ uptake in mouse distal convoluted tubule cells
-
Dai LJ, Bapty B, Ritchie G, Quamme GA: PGE2 stimulates Mg2+ uptake in mouse distal convoluted tubule cells. Am J Physiol 275: F833-F839, 1998
-
(1998)
Am J Physiol
, vol.275
-
-
Dai, L.J.1
Bapty, B.2
Ritchie, G.3
Quamme, G.A.4
-
79
-
-
50849151835
-
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
-
Bartter F, Pronove P, Gill J Jr, MacCardle R: Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 33: 811-828, 1962
-
(1962)
Am J Med
, vol.33
, pp. 811-828
-
-
Bartter, F.1
Pronove, P.2
Gill J., Jr.3
MacCardle, R.4
-
80
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP: Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17: 171-178, 1997
-
(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
Rodriguez-Soriano, J.11
Morales, J.M.12
Sanjad, S.A.13
Taylor, C.M.14
Pilz, D.15
Brem, A.16
Trachtman, H.17
Griswold, W.18
Richard, G.A.19
John, E.20
Lifton, R.P.21
more..
-
81
-
-
0033914432
-
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
-
Konrad M, Vollmer M, Lemmink HH, Van Den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. J Am Soc Nephrol 11: 1449-1459, 2000
-
(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
Guay-Woodford, L.11
Knoers, N.V.12
Seyberth, H.W.13
Feldmann, D.14
Hildebrandt, F.15
-
82
-
-
0032128096
-
The electroneutral cation-chloride cotransporters
-
Mount DB, Delpire E, Gamba G, Hall AE, Poch E, Hoover RS, Hebert SC: The electroneutral cation-chloride cotransporters. J Exp Biol 201: 2091-2102, 1998
-
(1998)
J Exp Biol
, vol.201
, pp. 2091-2102
-
-
Mount, D.B.1
Delpire, E.2
Gamba, G.3
Hall, A.E.4
Poch, E.5
Hoover, R.S.6
Hebert, S.C.7
-
83
-
-
0035408815
-
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
-
Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M: Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 108: E5, 2001
-
(2001)
Pediatrics
, vol.108
-
-
Jeck, N.1
Reinalter, S.C.2
Henne, T.3
Marg, W.4
Mallmann, R.5
Pasel, K.6
Vollmer, M.7
Klaus, G.8
Leonhardt, A.9
Seyberth, H.W.10
Konrad, M.11
-
84
-
-
0031937693
-
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p
-
Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC: Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. Am J Hum Genet 62: 355-361, 1998
-
(1998)
Am J Hum Genet
, vol.62
, pp. 355-361
-
-
Brennan, T.M.1
Landau, D.2
Shalev, H.3
Lamb, F.4
Schutte, B.C.5
Walder, R.Y.6
Mark, A.L.7
Carmi, R.8
Sheffield, V.C.9
-
85
-
-
0035189356
-
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
-
Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29: 310-314, 2001
-
(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
Milford, D.V.11
Jeck, N.12
Konrad, M.13
Landau, D.14
Knoers, N.V.15
Antignac, C.16
Sudbrak, R.17
Kispert, A.18
Hildebrandt, F.19
-
86
-
-
0035969520
-
Barttin is a Cl-channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion
-
Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ: Barttin is a Cl-channel beta-subunit crucial for renal Cl-reabsorption and inner ear K+ secretion. Nature 414: 558-561, 2001
-
(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
-
87
-
-
0036452353
-
Barttin increases expression and changes current properties of ClC-K channels
-
Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW: Barttin increases expression and changes current properties of ClC-K channels. Pflugers Arch 444: 411-418, 2002
-
(2002)
Pflugers Arch
, vol.444
, pp. 411-418
-
-
Waldegger, S.1
Jeck, N.2
Barth, P.3
Peters, M.4
Vitzthum, H.5
Wolf, K.6
Kurtz, A.7
Konrad, M.8
Seyberth, H.W.9
-
88
-
-
0013976561
-
A new familial disorder characterized by hypokalemia and hypomagnesemia
-
Gitelman HJ, Graham JB, Welt LG: A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221-235, 1966
-
(1966)
Trans Assoc Am Physicians
, vol.79
, pp. 221-235
-
-
Gitelman, H.J.1
Graham, J.B.2
Welt, L.G.3
-
89
-
-
0026512508
-
Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes
-
Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G, et al: Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38-43, 1992
-
(1992)
J Pediatr
, vol.120
, pp. 38-43
-
-
Bettinelli, A.1
Bianchetti, M.G.2
Girardin, E.3
Caringella, A.4
Cecconi, M.5
Appiani, A.C.6
Pavanello, L.7
Gastaldi, R.8
Isimbaldi, C.9
Lama, G.10
-
90
-
-
0033667558
-
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
-
Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW: Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 48: 754-758, 2000
-
(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
-
91
-
-
0035136314
-
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
-
Cruz DN, Shaer AJ, Bia MJ, Lifton RP, Simon DB: Gitelman's syndrome revisited: An evaluation of symptoms and health- related quality of life. Kidney Int 59: 710-717, 2001
-
(2001)
Kidney Int
, vol.59
, pp. 710-717
-
-
Cruz, D.N.1
Shaer, A.J.2
Bia, M.J.3
Lifton, R.P.4
Simon, D.B.5
-
92
-
-
9044235777
-
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
-
Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP: 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
-
(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
Gainza, F.J.11
Gitleman, H.J.12
Lifton, R.P.13
-
93
-
-
0032698959
-
Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome
-
Kunchaparty S, Palcso M, Berkman J, Velazquez H, Desir GV, Bernstein P, Reilly RF, Ellison DH: Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman's syndrome. Am J Physiol 277: F643-F649, 1999
-
(1999)
Am J Physiol
, vol.277
-
-
Kunchaparty, S.1
Palcso, M.2
Berkman, J.3
Velazquez, H.4
Desir, G.V.5
Bernstein, P.6
Reilly, R.F.7
Ellison, D.H.8
-
94
-
-
0036014925
-
Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome
-
De Jong JC, Van Der Vliet WA, Van Den Heuvel LP, Willems PH, Knoers NV, Bindels RJ: Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13: 1442-1448, 2002
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 1442-1448
-
-
De Jong, J.C.1
Van Der Vliet, W.A.2
Van Den Heuvel, L.P.3
Willems, P.H.4
Knoers, N.V.5
Bindels, R.J.6
-
95
-
-
15444355650
-
Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl-cotransporter of the distal convoluted tubule
-
Schultheis PJ, Lorenz JN, Meneton P, Nieman ML, Riddle TM, Flagella M, Duffy JJ, Doetschman T, Miller ML, Shull GE: Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl-cotransporter of the distal convoluted tubule. J Biol Chem 273: 29150-29155, 1998
-
(1998)
J Biol Chem
, vol.273
, pp. 29150-29155
-
-
Schultheis, P.J.1
Lorenz, J.N.2
Meneton, P.3
Nieman, M.L.4
Riddle, T.M.5
Flagella, M.6
Duffy, J.J.7
Doetschman, T.8
Miller, M.L.9
Shull, G.E.10
-
96
-
-
0033963206
-
Mammalian distal tubule: Physiology, pathophysiology, and molecular anatomy
-
Reilly RF, Ellison DH: Mammalian distal tubule: Physiology, pathophysiology, and molecular anatomy. Physiol Rev 80: 277- 313, 2000
-
(2000)
Physiol Rev
, vol.80
, pp. 277-313
-
-
Reilly, R.F.1
Ellison, D.H.2
-
97
-
-
0033695807
-
Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndromes
-
Ellison DH: Divalent cation transport by the distal nephron: Insights from Bartter's and Gitelman's syndromes. Am J Physiol Renal Physiol 279: F616-F625, 2000
-
(2000)
Am J Physiol Renal Physiol
, vol.279
-
-
Ellison, D.H.1
-
98
-
-
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, Tsukita S: Differential expression patterns of claudins, tight junction membrane proteins, in mouse nephron segments. J Am Soc Nephrol 13: 875-886, 2002
-
(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
-
99
-
-
0030707887
-
Renal magnesium handling: New insights in understanding old problems
-
Quamme GA: Renal magnesium handling: New insights in understanding old problems. Kidney Int 52: 1180-1195, 1997
-
(1997)
Kidney Int
, vol.52
, pp. 1180-1195
-
-
Quamme, G.A.1
-
100
-
-
0029827662
-
Thiazide treatment of rats provokes apoptosis in distal tubule cells
-
Loffing J, Loffing-Cueni D, Hegyi I, Kaplan MR, Hebert SC, Le Hir M, Kaissling B: Thiazide treatment of rats provokes apoptosis in distal tubule cells. Kidney Int 50: 1180-1190, 1996
-
(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
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