-
2
-
-
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 JG, Verslype C, 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
-
3
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga M, Vara J, González-Parra E, Andrés A, Alamo C, Araque A, Ortiz A, Rodicio JL (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
González-Parra, E.3
Andrés, A.4
Alamo, C.5
Araque, A.6
Ortiz, A.7
Rodicio, J.L.8
-
4
-
-
0017852004
-
Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria, and nephrocalcinosis in siblings
-
Manz F, Scharer K, Janka P, Lombeck J (1978) Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria, and nephrocalcinosis in siblings. Eur J Pediatr 128:67-79
-
(1978)
Eur J Pediatr
, vol.128
, pp. 67-79
-
-
Manz, F.1
Scharer, K.2
Janka, P.3
Lombeck, J.4
-
5
-
-
0019482285
-
The congenital "magnesium-loosing kidney". Report of two patients
-
Evans RA, Carter JN, George CR, Walls RS, Newland RC, McDonnell GD, Lawrence JR (1981) The congenital "magnesium-loosing kidney". Report of two patients. QJM 50:39-52
-
(1981)
QJM
, vol.50
, pp. 39-52
-
-
Evans, R.A.1
Carter, J.N.2
George, C.R.3
Walls, R.S.4
Newland, R.C.5
McDonnell, G.D.6
Lawrence, J.R.7
-
7
-
-
0015413157
-
Decreased bicarnonate 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 (1972) Decreased bicarnonate 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)
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
-
8
-
-
0028361174
-
Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesemia-hypercalciuria
-
Rodriguez-Soriano J, Vallo A (1994) Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesemia-hypercalciuria. Pediatr Nephrol 8:431-435
-
(1994)
Pediatr Nephrol
, vol.8
, pp. 431-435
-
-
Rodriguez-Soriano, J.1
Vallo, A.2
-
9
-
-
0021985026
-
Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: Effect of oral phosphorus and magnesium supplements
-
Ulmann A, Hadj S, Lacour B, Bourdeau A, Bader C (1985) Renal magnesium and phosphate wastage in a patient with hypercalciuria and nephrocalcinosis: Effect of oral phosphorus and magnesium supplements. Nephron 40:83-87
-
(1985)
Nephron
, vol.40
, pp. 83-87
-
-
Ulmann, A.1
Hadj, S.2
Lacour, B.3
Bourdeau, A.4
Bader, C.5
-
11
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M (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
Rönnefarth, G.5
Böswald, M.6
Bonzel, K.E.7
Seeman, T.8
Suláková, T.9
Kuwertz-Bröking, E.10
Gregoric, A.11
Palcoux, J.B.12
Tasic, V.13
Manz, F.14
Schärer, K.15
Seyberth, H.W.16
Konrad, M.17
-
12
-
-
26044455716
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations
-
Kang JH, Choi HJ, Cho HY, Lee JH, Sa IS, Cheig HI, Choi Y (2005) Familial hypomagnesemia with hypercalciuria and nephrocalcinosis associated with CLDN16 mutations. Pediatr Nephrol 20:1490-1493
-
(2005)
Pediatr Nephrol
, vol.20
, pp. 1490-1493
-
-
Kang, J.H.1
Choi, H.J.2
Cho, H.Y.3
Lee, J.H.4
Sa, I.S.5
Cheig, H.I.6
Choi, Y.7
-
13
-
-
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
McCredie, D.11
Milford, D.12
Sanjad, S.13
Lifton, R.P.14
-
14
-
-
38149095530
-
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T, Kuwertz-Bröking E, Peco-Antic A, Tasic V, Dittrich K, Alshaya HO, von Vigier RO, Gallati S, Goodenough DA, Schaller A (2008) CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 19:171-181
-
(2008)
J Am Soc Nephrol
, vol.19
, pp. 171-181
-
-
Konrad, M.1
Hou, J.2
Weber, S.3
Dötsch, J.4
Kari, J.A.5
Seeman, T.6
Kuwertz-Bröking, E.7
Peco-Antic, A.8
Tasic, V.9
Dittrich, K.10
Alshaya, H.O.11
von Vigier, R.O.12
Gallati, S.13
Goodenough, D.A.14
Schaller, A.15
-
15
-
-
0033582334
-
Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands
-
Morita K, Furuse M, Fukimoto K, Tsukita S (1999) Claudin multigene family encoding four-transmembrane domain protein components of tight junction strands. Proc Natl Acad Sci USA 96:511-516
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 511-516
-
-
Morita, K.1
Furuse, M.2
Fukimoto, K.3
Tsukita, S.4
-
16
-
-
17544399838
-
A novel claudin 16 mutation associated with childhood hypercalciuria abolished binding to ZO-1 and results in lysosomal mistargeting
-
Muller D, Kausalya J, Claverie-Martin F, Meij IC, Eggert P, Garcia-Nieto V, Hunziker W (2003) A novel claudin 16 mutation associated with childhood hypercalciuria abolished 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, J.2
Claverie-Martin, F.3
Meij, I.C.4
Eggert, P.5
Garcia-Nieto, V.6
Hunziker, W.7
-
17
-
-
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 AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S (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
Schlingmann, K.P.11
Schmid, M.12
Rodriguez-Soriano, J.13
Ariceta, G.14
Cano, F.15
Enriquez, R.16
Juppner, H.17
Bakkaloglu, S.A.18
Hediger, M.A.19
Gallati, S.20
Neuhauss, S.C.21
Nurnberg, P.22
Weber, S.23
more..
-
18
-
-
27944501678
-
Paracellin-1 and the modulation of ion selectivity of tight junctions
-
Hou J, Paul DL, Goodenough DA (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
-
19
-
-
34447126892
-
Transgenic RNAi depletion of claudin-16 and the renal handling of magnesium
-
Hou J, Shan Q, Wang T, Gomes AS, Yan Q, Paul DL, Bleigh M, Goodenough DA (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
Bleigh, M.7
Goodenough, D.A.8
-
20
-
-
0013976561
-
A familial disorder characterized by hypokalemia and hypomagnesemia
-
Gitelman HJ, Graham JB, Welt LG (1966) A 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
-
21
-
-
0033817445
-
Genetic variants of thiazide-senstive NaCl cotransporter in Gitelman's syndrome and primary hypertension
-
Melander O, Ohro-Melander M, Bengtsson K, Lindblad U, Rastam L, Groop L, Hulthen UL (2000) Genetic variants of thiazide-senstive NaCl cotransporter in Gitelman's syndrome and primary hypertension. Hypertension 36:389-394
-
(2000)
Hypertension
, vol.36
, pp. 389-394
-
-
Melander, O.1
Ohro-Melander, M.2
Bengtsson, K.3
Lindblad, U.4
Rastam, L.5
Groop, L.6
Hulthen, U.L.7
-
22
-
-
34047239789
-
Belgian Network for Study of Gitelman Syndrome. Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of Gitelman syndrome
-
Riveira-Munoz E, Chang Q, Godefroid N, Hoenderop JG, Bindels RJ, Dahan K, Devuyst O (2007) Belgian Network for Study of Gitelman Syndrome. Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 1:1271-1283
-
(2007)
J Am Soc Nephrol
, vol.1
, pp. 1271-1283
-
-
Riveira-Munoz, E.1
Chang, Q.2
Godefroid, N.3
Hoenderop, J.G.4
Bindels, R.J.5
Dahan, K.6
Devuyst, O.7
-
23
-
-
0033651381
-
Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: Review of the pathogenetic mechanisms
-
Caló L, Punzi L, Semplicini A (2000) Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: Review of the pathogenetic mechanisms. Am J Nephrol 20:347-350
-
(2000)
Am J Nephrol
, vol.20
, pp. 347-350
-
-
Caló, L.1
Punzi, L.2
Semplicini, A.3
-
24
-
-
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 (2001) Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life. Kidney Int 59:710-717
-
(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
-
25
-
-
2942722504
-
Cardiac work up in primary hypokalemia-hypomagnesemia (Gitelman syndrome)
-
Foglia PEG, Bettineli A, Tosetto C, Cortesi C, Crosazzo L, Edefonti A, Bianchetti MG (2004) Cardiac work up in primary hypokalemia-hypomagnesemia (Gitelman syndrome). Nephrol Dial Transplant 19:1398-1402
-
(2004)
Nephrol Dial Transplant
, vol.19
, pp. 1398-1402
-
-
Foglia, P.E.G.1
Bettineli, A.2
Tosetto, C.3
Cortesi, C.4
Crosazzo, L.5
Edefonti, A.6
Bianchetti, M.G.7
-
26
-
-
33947285760
-
Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes
-
Scognamiglio R, Negut C, Calò LA (2007) Aborted sudden cardiac death in two patients with Bartter's/Gitelman's syndromes. Clin Nephrol 67:193-197
-
(2007)
Clin Nephrol
, vol.67
, pp. 193-197
-
-
Scognamiglio, R.1
Negut, C.2
Calò, L.A.3
-
27
-
-
38349124458
-
Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure
-
Fava C, Montagnana M, Rosberg L, Burri P, Almgren P, Jönsson A, Wanby P, Lippi G, Minuz P, Hulthèn LU, Aurell M, Melander O (2008) Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure. Hum Mol Genet 17:413-418
-
(2008)
Hum Mol Genet
, vol.17
, pp. 413-418
-
-
Fava, C.1
Montagnana, M.2
Rosberg, L.3
Burri, P.4
Almgren, P.5
Jönsson, A.6
Wanby, P.7
Lippi, G.8
Minuz, P.9
Hulthèn, L.U.10
Aurell, M.11
Melander, O.12
-
28
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP (2008) Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet 40:592-599
-
(2008)
Nat Genet
, vol.40
, pp. 592-599
-
-
Ji, W.1
Foo, J.N.2
O'Roak, B.J.3
Zhao, H.4
Larson, M.G.5
Simon, D.B.6
Newton-Cheh, C.7
State, M.W.8
Levy, D.9
Lifton, R.P.10
-
29
-
-
0035571328
-
Mutations in the Na-Cl cotransporter reduce blood pressure in humans
-
Cruz DN, Simon DB, Nelson-Williams C, Farhi A, Finberg K, Burleson L, Gill JR, Lifton RP (2001) Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension 37:1458-1464
-
(2001)
Hypertension
, vol.37
, pp. 1458-1464
-
-
Cruz, D.N.1
Simon, D.B.2
Nelson-Williams, C.3
Farhi, A.4
Finberg, K.5
Burleson, L.6
Gill, J.R.7
Lifton, R.P.8
-
30
-
-
0742270766
-
Intrafamiliar phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter
-
Lin SH, Cheng NL, Hsu YJ, Halperin ML (2004) Intrafamiliar phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Am J Kidney Dis 43:304-312
-
(2004)
Am J Kidney Dis
, vol.43
, pp. 304-312
-
-
Lin, S.H.1
Cheng, N.L.2
Hsu, Y.J.3
Halperin, M.L.4
-
31
-
-
0035748332
-
Bioavailability of U.S. commercial magnesium preparations
-
Firoz M, Braber M (2001) Bioavailability of U.S. commercial magnesium preparations. Magnesium Res 4:257-262
-
(2001)
Magnesium Res
, vol.4
, pp. 257-262
-
-
Firoz, M.1
Braber, M.2
-
32
-
-
0034976865
-
Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome
-
Bonfante L, Davis PA, Spinello M, Antonello A, D'Angelo A, Semplicini A, Galo L (2001) Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman's syndrome. Am J Kidney Dis 38:165-168
-
(2001)
Am J Kidney Dis
, vol.38
, pp. 165-168
-
-
Bonfante, L.1
Davis, P.A.2
Spinello, M.3
Antonello, A.4
D'Angelo, A.5
Semplicini, A.6
Galo, L.7
-
33
-
-
33645405404
-
Hypokalemic tubular disorders
-
In Davidson AM, Cameron JS, Grunfeld J-P, Ponticelli C, Ritz E, Winearls CG, van Ypersele C (eds) 3rd edn. Oxford University Press, Oxford
-
Knoers NVAM, Starremans PGJF, Monnens LAH (2005) Hypokalemic tubular disorders. In Davidson AM, Cameron JS, Grunfeld J-P, Ponticelli C, Ritz E, Winearls CG, van Ypersele C (eds) Oxford textbook in clinical nephrology, 3rd edn. Oxford University Press, Oxford, pp 995-1004
-
(2005)
Oxford Textbook in Clinical Nephrology
, pp. 995-1004
-
-
Knoers, N.V.A.M.1
Starremans, P.G.J.F.2
Monnens, L.A.H.3
-
34
-
-
0027405688
-
Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter
-
Gamba G, Saltzberg SN, Lombardi M, Miyanoshita A, Lytton J, Hediger MA, Brenner BM, Hebert SC (1993) Primary structure and functional expression of a cDNA encoding the thiazide-sensitive, electroneutral sodium-chloride cotransporter. Proc Natl Acad Sci USA 90:2749-2753
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2749-2753
-
-
Gamba, G.1
Saltzberg, S.N.2
Lombardi, M.3
Miyanoshita, A.4
Lytton, J.5
Hediger, M.A.6
Brenner, B.M.7
Hebert, S.C.8
-
35
-
-
0036014925
-
Functional expression of mutations in the human NaCl cotransporter (NCC): Evidence for impaired routing mechanisms in Gitelman's syndrome
-
de Jong JC, van der Vliet WA, van den Heuvel LPWJ, Willems PHGM, Knoers NVAM, Bindels RJM (2002) Functional expression of mutations in the human NaCl cotransporter (NCC): Evidence for impaired routing mechanisms in Gitelman's syndrome. J Am Soc Nephrol 13:1442-1448
-
(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.W.J.3
Willems, P.H.G.M.4
Knoers, N.V.A.M.5
Bindels, R.J.M.6
-
36
-
-
0042591321
-
The structural unit of the thiazide-sensitive NaCl cotransporter (NCC) is a homodimer
-
de Jong JC, Willems PHGM, Mooren FJM, van den Heuvel PWJ, Knoers NVAM, Bindels RJM (2003) The structural unit of the thiazide-sensitive NaCl cotransporter (NCC) is a homodimer. J Biol Chem 278:24302-24307
-
(2003)
J Biol Chem
, vol.278
, pp. 24302-24307
-
-
de Jong, J.C.1
Willems, P.H.G.M.2
Mooren, F.J.M.3
van den Heuvel, P.W.J.4
Knoers, N.V.A.M.5
Bindels, R.J.M.6
-
37
-
-
3242671652
-
Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease
-
Sabath E, Meade P, Berkman J, de los Heros P, Moreno E, Bobadilla NA, Vazquez N, Ellison DH, Gamba G (2004) Pathophysiology of functional mutations of the thiazide-sensitive Na-Cl cotransporter in Gitelman disease. Am J Physiol Renal Physiol 287:F195-F203
-
(2004)
Am J Physiol Renal Physiol
, vol.287
-
-
Sabath, E.1
Meade, P.2
Berkman, J.3
de los Heros, P.4
Moreno, E.5
Bobadilla, N.A.6
Vazquez, N.7
Ellison, D.H.8
Gamba, G.9
-
39
-
-
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 (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
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..
-
40
-
-
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, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F (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
Deschênes, G.9
Antignac, C.10
Guay-Woodford, L.11
Knoers, N.V.12
Seyberth, H.W.13
Feldmann, D.14
Hildebrandt, F.15
-
42
-
-
0023241734
-
Renal magnesium wasting in two families with autosomal dominant inheritance
-
Geven WB, Monnens LA, Willems HL, Buijs WC, ter Haar BG (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
-
43
-
-
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 KFH, Tiel Groenestege W, de Pont JJHHM, Bindels RJM, Monnens LAH, van den Heuvel LPWJ, Knoers NVAM (2000) Dominant isolated renal magnesium loss is caused by misrouting of the Na(+), K(+)-ATPase gamma subunit. Nat Genet 26:265-266
-
(2000)
Nat Genet
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
van Bokhoven, H.3
Assink, K.F.H.4
Tiel Groenestege, W.5
de Pont, J.J.H.H.M.6
Bindels, R.J.M.7
Monnens, L.A.H.8
van den Heuvel, L.P.W.J.9
Knoers, N.V.A.M.10
-
45
-
-
0038239949
-
Dominant isolated renal magnesium loss is caused by misrouting of the Na,K, ATPase gamma subunit
-
Meij IC, Koenderink JB, De Jong JC, De Pont JJ, Monnens LA, Van Den Heuvel LP, Knoers NV (2003) Dominant isolated renal magnesium loss is caused by misrouting of the Na,K, ATPase gamma subunit. Ann NY Acad Sci 986:437-443
-
(2003)
Ann NY Acad Sci
, vol.986
, pp. 437-443
-
-
Meij, I.C.1
Koenderink, J.B.2
De Jong, J.C.3
De Pont, J.J.4
Monnens, L.A.5
Van Den Heuvel, L.P.6
Knoers, N.V.7
-
46
-
-
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
Arysarkhova, 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
-
48
-
-
0036169182
-
Genetic heterogeneity in familial renal magnesium wasting
-
Kantorovich V, Adams JS, Gaines JE, Guo X, Pandian M, Cohn D, Rude R (2002) Genetic heterogeneity in familial renal magnesium wasting. J Endocrinol Metab 87:612-617
-
(2002)
J Endocrinol Metab
, vol.87
, pp. 612-617
-
-
Kantorovich, V.1
Adams, J.S.2
Gaines, J.E.3
Guo, X.4
Pandian, M.5
Cohn, D.6
Rude, R.7
-
49
-
-
0014249537
-
Primary hypomagnesemia with secondary hypocalcemia in an infant
-
Paunier L, Radde IC, Kooh SW, Conen PE, 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
-
50
-
-
0015515015
-
Evidence for parathyroid failure in magnesium deficiency
-
Anast CS, Mohs JM, Kaplan SL, Bruns TW (1972) Evidence for parathyroid failure in magnesium deficiency. Science 177:606-608
-
(1972)
Science
, vol.177
, pp. 606-608
-
-
Anast, C.S.1
Mohs, J.M.2
Kaplan, S.L.3
Bruns, T.W.4
-
51
-
-
33645252352
-
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
-
Schlingmann KP, Sassen MC, Weber S, Pechmann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DEC, Metger DL, Rahman S, Tajima T, Shu S-G, Waldegger S, Seyberth HW, Konrad M (2005) Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 16:3061-3069
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 3061-3069
-
-
Schlingmann, K.P.1
Sassen, M.C.2
Weber, S.3
Pechmann, U.4
Kusch, K.5
Pelken, L.6
Lotan, D.7
Syrrou, M.8
Prebble, J.J.9
Cole, D.E.C.10
Metger, D.L.11
Rahman, S.12
Tajima, T.13
Shu, S.-G.14
Waldegger, S.15
Seyberth, H.W.16
Konrad, M.17
-
52
-
-
0031892059
-
Clinical presentation and outcome in primary familial hypomagnesemia
-
Shalev H, Phillip M, Galil A, Carmi R, Landau D (1998) Clinical presentation and outcome in primary familial hypomagnesemia. 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
-
53
-
-
18544369466
-
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, 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 (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
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 the TRPM6 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 (2002) Mutation of the 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
-
55
-
-
0347504835
-
TRP channels as cellular sensors
-
Clapham DE (2003) TRP channels as cellular sensors. Nature 426:517-524
-
(2003)
Nature
, vol.426
, pp. 517-524
-
-
Clapham, D.E.1
-
56
-
-
0023513620
-
Isolated autosomal recessive renal magnesium loss in two sisters
-
Geven WB, Monnens LA, Willems JL, Buijs W, Hamel BCJ (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, B.C.J.5
-
57
-
-
34547700632
-
Impaired basolateral sorting of the pro-EGF causes isolated renal hypomagnesemia
-
Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ (2007) Impaired basolateral sorting of the pro-EGF causes isolated 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
-
58
-
-
0023047209
-
Human epidermal growth factor precursor: CDNA sequence, expression in vitro and gene organization
-
Bell GI, Fong NM, Stempien MM, Wormsted MA, Caput D, Ku LL, Urdea MS, Rall LB, Sanchez-Pescador R (1986) Human epidermal growth factor precursor: CDNA sequence, expression in vitro and gene organization. Nucleic Acids Res 14:8427-8446
-
(1986)
Nucleic Acids Res
, vol.14
, pp. 8427-8446
-
-
Bell, G.I.1
Fong, N.M.2
Stempien, M.M.3
Wormsted, M.A.4
Caput, D.5
Ku, L.L.6
Urdea, M.S.7
Rall, L.B.8
Sanchez-Pescador, R.9
-
59
-
-
0035662188
-
Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron
-
Loffing J, Loffing-Cueni D, Valderrabano V, Kläusli L, Hebert SC, Rossier BC, Hoenderop JG, Bindels RJ, 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
Kläusli, L.4
Hebert, S.C.5
Rossier, B.C.6
Hoenderop, J.G.7
Bindels, R.J.8
Kaissling, B.9
-
60
-
-
0030857115
-
Apical enrichment of human EGF precursor on Madin-Darby canine kidney cells involves preferential basolateral ectodomain cleavage sensitive to metalloprotease inhibitor
-
Dempsey PJ, Meisse KS, Yoshitake Y, Nishikawa K, Coffey RJ (1997) Apical enrichment of human EGF precursor on Madin-Darby canine kidney cells involves preferential basolateral ectodomain cleavage sensitive to metalloprotease inhibitor. J Cell Biol 138:747-758
-
(1997)
J Cell Biol
, vol.138
, pp. 747-758
-
-
Dempsey, P.J.1
Meisse, K.S.2
Yoshitake, Y.3
Nishikawa, K.4
Coffey, R.J.5
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