-
1
-
-
0028220576
-
Renal magnesium handling and its hormonal control
-
de Rouffignac C, Quamme G. Renal magnesium handling and its hormonal control. Physiol Rev 1994; 74: 305-322
-
(1994)
Physiol Rev
, vol.74
, pp. 305-322
-
-
De Rouffignac, C.1
Quamme, G.2
-
2
-
-
0033516683
-
Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
-
Simon DB, Lu Y, Choate KA et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science 1999; 285: 103-106
-
(1999)
Science
, vol.285
, pp. 103-106
-
-
Simon, D.B.1
Lu, Y.2
Choate, K.A.3
-
3
-
-
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 et al. 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 2006; 79: 949-957
-
(2006)
Am J Hum Genet
, vol.79
, pp. 949-957
-
-
Konrad, M.1
Schaller, A.2
Seelow, D.3
-
4
-
-
84862881925
-
Lecture: New light on the role of claudins in the kidney
-
Hou J. Lecture: new light on the role of claudins in the kidney. Organogenesis 2012; 8: 1-9
-
(2012)
Organogenesis
, vol.8
, pp. 1-9
-
-
Hou, J.1
-
5
-
-
84873733575
-
Electrolyte disorders in community subjects: Prevalence and risk factors
-
Liamis G, Rodenburg EM, Hofman A et al. Electrolyte disorders in community subjects: prevalence and risk factors. Am J Med 2013; 126: 256-263
-
(2013)
Am J Med
, vol.126
, pp. 256-263
-
-
Liamis, G.1
Rodenburg, E.M.2
Hofman, A.3
-
6
-
-
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 2001; 14: 283-290
-
(2001)
Magnes Res
, vol.14
, pp. 283-290
-
-
Schimatschek, H.F.1
Rempis, R.2
-
7
-
-
12944308345
-
Total and ionized serum magnesium in critically ill patients
-
Escuela MP, Guerra M, Anon JM et al. Total and ionized serum magnesium in critically ill patients. Intensive Care Med 2005; 31: 151-156
-
(2005)
Intensive Care Med
, vol.31
, pp. 151-156
-
-
Escuela, M.P.1
Guerra, M.2
Anon, J.M.3
-
8
-
-
35948987114
-
Admission hypomagnesemia - Impact on mortality or morbidity in critically ill patients
-
Safavi M, Honarmand A. Admission hypomagnesemia - impact on mortality or morbidity in critically ill patients. Middle East J Anesthesiol 2007; 19: 645-660
-
(2007)
Middle East J Anesthesiol
, vol.19
, pp. 645-660
-
-
Safavi, M.1
Honarmand, A.2
-
9
-
-
84883977334
-
Mechanisms and disorders of magnesium metabolism
-
Alpern RJ, Moe OW, Caplan M (eds). 5th edn. London: Academic Press
-
Schlingmann KP, Konrad M. Mechanisms and disorders of magnesium metabolism. In: Alpern RJ, Moe OW, Caplan M (eds). Seldin and Giebisch's The Kidney Physiology and Pathophysiology, 5th edn. London: Academic Press, 2013, pp. 2139-2165
-
(2013)
Seldin and Giebisch's the Kidney Physiology and Pathophysiology
, pp. 2139-2165
-
-
Schlingmann, K.P.1
Konrad, M.2
-
10
-
-
50849151835
-
Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
-
Bartter FC, Pronove P, Gill JR et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962; 33: 811-828
-
(1962)
Am J Med
, vol.33
, pp. 811-828
-
-
Bartter, F.C.1
Pronove, P.2
Gill, J.R.3
-
11
-
-
16944366243
-
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
-
Simon DB, Bindra RS, Mansfield TA et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997; 17: 171-178
-
(1997)
Nat Genet
, vol.17
, pp. 171-178
-
-
Simon, D.B.1
Bindra, R.S.2
Mansfield, T.A.3
-
12
-
-
84865979527
-
PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor
-
Loupy A, Ramakrishnan SK, Wootla B et al. PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor. J Clin Invest 2012; 122: 3355-3367
-
(2012)
J Clin Invest
, vol.122
, pp. 3355-3367
-
-
Loupy, A.1
Ramakrishnan, S.K.2
Wootla, B.3
-
14
-
-
0028037143
-
Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation
-
Pollak MR, Brown EM, Estep HL et al. Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nat Genet 1994; 8: 303-307
-
(1994)
Nat Genet
, vol.8
, pp. 303-307
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
-
15
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce SH,Williamson C, Kifor O et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 1996; 335: 1115-1122
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.H.1
Williamson, C.2
Kifor, O.3
-
16
-
-
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 et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002; 13: 2259-2266
-
(2002)
J Am Soc Nephrol
, vol.13
, pp. 2259-2266
-
-
Vargas-Poussou, R.1
Huang, C.2
Hulin, P.3
-
17
-
-
0037206034
-
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
-
Watanabe S, Fukumoto S, Chang H et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002; 360: 692-694
-
(2002)
Lancet
, vol.360
, pp. 692-694
-
-
Watanabe, S.1
Fukumoto, S.2
Chang, H.3
-
18
-
-
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 1966; 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
-
19
-
-
0029148777
-
Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome
-
Peters N, Bettinelli A, Spicher I et al. Renal tubular function in children and adolescents with Gitelman's syndrome, the hypocalciuric variant of Bartter's syndrome. Nephrol Dial Transplant 1995; 10: 1313-1319
-
(1995)
Nephrol Dial Transplant
, vol.10
, pp. 1313-1319
-
-
Peters, N.1
Bettinelli, A.2
Spicher, I.3
-
20
-
-
34047239789
-
Transcriptional and functional analyses of SLC12A3 mutations: New clues for the pathogenesis of Gitelman syndrome
-
Riveira-Munoz E, Chang Q, Godefroid N et al. Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome. J Am Soc Nephrol 2007; 18: 1271-1283
-
(2007)
J Am Soc Nephrol
, vol.18
, pp. 1271-1283
-
-
Riveira-Munoz, E.1
Chang, Q.2
Godefroid, N.3
-
21
-
-
0033651381
-
Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: Review of the pathogenetic mechanisms
-
Calo L, Punzi L, Semplicini A. Hypomagnesemia and chondrocalcinosis in Bartter's and Gitelman's syndrome: review of the pathogenetic mechanisms. Am J Nephrol 2000; 20: 347-350
-
(2000)
Am J Nephrol
, vol.20
, pp. 347-350
-
-
Calo, L.1
Punzi, L.2
Semplicini, A.3
-
22
-
-
0035136314
-
Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life
-
Cruz DN, Shaer AJ, Bia MJ et al. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001; 59: 710-717
-
(2001)
Kidney Int
, vol.59
, pp. 710-717
-
-
Cruz, D.N.1
Shaer, A.J.2
Bia, M.J.3
-
23
-
-
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 et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996; 12: 24-30
-
(1996)
Nat Genet
, vol.12
, pp. 24-30
-
-
Simon, D.B.1
Nelson-Williams, C.2
Bia, M.J.3
-
25
-
-
20444432260
-
Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazideinduced hypocalciuria and hypomagnesemia
-
Nijenhuis T, Vallon V, van der Kemp AW et al. Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazideinduced hypocalciuria and hypomagnesemia. J Clin Invest 2005; 115: 1651-1658
-
(2005)
J Clin Invest
, vol.115
, pp. 1651-1658
-
-
Nijenhuis, T.1
Vallon, V.2
Van Der Kemp, A.W.3
-
26
-
-
65649112786
-
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations
-
Bockenhauer D, Feather S, Stanescu HC et al. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 2009; 360: 1960-1970
-
(2009)
N Engl J Med
, vol.360
, pp. 1960-1970
-
-
Bockenhauer, D.1
Feather, S.2
Stanescu, H.C.3
-
27
-
-
65249156553
-
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10
-
Scholl UI, Choi M, Liu T et al. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci USA 2009; 106: 5842-5847
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 5842-5847
-
-
Scholl, U.I.1
Choi, M.2
Liu, T.3
-
28
-
-
84868131967
-
SeSAME/EAST syndrome - Phenotypic variability and delayed activity of the distal convoluted tubule
-
Scholl UI, Dave HB, Lu M et al. SeSAME/EAST syndrome - phenotypic variability and delayed activity of the distal convoluted tubule. Pediatr Nephrol 2012; 27: 2081-2090
-
(2012)
Pediatr Nephrol
, vol.27
, pp. 2081-2090
-
-
Scholl, U.I.1
Dave, H.B.2
Lu, M.3
-
29
-
-
79953695340
-
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel
-
Bandulik S, Schmidt K, Bockenhauer D et al. The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel. Pflugers Arch 2011; 461: 423-435
-
(2011)
Pflugers Arch
, vol.461
, pp. 423-435
-
-
Bandulik, S.1
Schmidt, K.2
Bockenhauer, D.3
-
30
-
-
0029020519
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Praga M, Vara J, González-Parra E et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis. Kidney Int 1995; 47: 1419-1425
-
(1995)
Kidney Int
, vol.47
, pp. 1419-1425
-
-
Praga, M.1
Vara, J.2
González-Parra, E.3
-
31
-
-
0034863148
-
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Weber S, Schneider L, Peters M et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001; 12: 1872-1881
-
(2001)
J Am Soc Nephrol
, vol.12
, pp. 1872-1881
-
-
Weber, S.1
Schneider, L.2
Peters, M.3
-
32
-
-
84860758973
-
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: Phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations
-
Godron A, Harambat J, Boccio V et al. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations. Clin J Am Soc Nephrol 2012; 7: 801-809
-
(2012)
Clin J Am Soc Nephrol
, vol.7
, pp. 801-809
-
-
Godron, A.1
Harambat, J.2
Boccio, V.3
-
33
-
-
84871869257
-
Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Claverie-Martin F, Garcia-Nieto V, Loris C et al. Claudin-19 mutations and clinical phenotype in Spanish patients with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. PLoS One 2013; 8: e53151
-
(2013)
PLoS One
, vol.8
-
-
Claverie-Martin, F.1
Garcia-Nieto, V.2
Loris, C.3
-
34
-
-
0034665199
-
A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle
-
Ohba Y, Kitagawa H, Kitoh K et al. A deletion of the paracellin-1 gene is responsible for renal tubular dysplasia in cattle. Genomics 2000; 68: 229-236
-
(2000)
Genomics
, vol.68
, pp. 229-236
-
-
Ohba, Y.1
Kitagawa, H.2
Kitoh, K.3
-
35
-
-
77951551390
-
Targeted deletion of murine Cldn16 identifies extra-and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting
-
Will C, Breiderhoff T, Thumfart J et al. Targeted deletion of murine Cldn16 identifies extra-and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting. Am J Physiol Renal Physiol 2010; 298: F1152-F1161
-
(2010)
Am J Physiol Renal Physiol
, vol.298
, pp. F1152-F1161
-
-
Will, C.1
Breiderhoff, T.2
Thumfart, J.3
-
36
-
-
38149095530
-
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
-
Konrad M, Hou J, Weber S et al. CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2008; 19: 171-181
-
(2008)
J Am Soc Nephrol
, vol.19
, pp. 171-181
-
-
Konrad, M.1
Hou, J.2
Weber, S.3
-
37
-
-
77955926292
-
Claudin-16 and claudin-19 function in the thick ascending limb
-
Hou J, Goodenough DA. Claudin-16 and claudin-19 function in the thick ascending limb. Curr Opin Nephrol Hypertens 2010; 19: 483-488
-
(2010)
Curr Opin Nephrol Hypertens
, vol.19
, pp. 483-488
-
-
Hou, J.1
Goodenough, D.A.2
-
38
-
-
70349326768
-
Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium
-
Hou J, Renigunta A, Gomes AS et al. Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium. Proc Natl Acad Sci USA 2009; 106: 15350-15355
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 15350-15355
-
-
Hou, J.1
Renigunta, A.2
Gomes, A.S.3
-
39
-
-
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 et al. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002; 31: 166-170
-
(2002)
Nat Genet
, vol.31
, pp. 166-170
-
-
Schlingmann, K.P.1
Weber, S.2
Peters, M.3
-
40
-
-
0036592004
-
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
-
Walder RY, Landau D, Meyer P et al. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. Nat Genet 2002; 31: 171-174
-
(2002)
Nat Genet
, vol.31
, pp. 171-174
-
-
Walder, R.Y.1
Landau, D.2
Meyer, P.3
-
41
-
-
33645252352
-
Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia
-
Schlingmann KP, Sassen MC, Weber S et al. Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nephrol 2005; 16: 3061-3069
-
(2005)
J Am Soc Nephrol
, vol.16
, pp. 3061-3069
-
-
Schlingmann, K.P.1
Sassen, M.C.2
Weber, S.3
-
42
-
-
84896548481
-
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia
-
Lainez S, Schlingmann KP, van der Wijst J et al. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. Eur J Hum Genet 2014; 22: 197-504
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 197-504
-
-
Lainez, S.1
Schlingmann, K.P.2
Van Der Wijst, J.3
-
43
-
-
0942265537
-
Characterization of the protein kinase activity of TRPM7/ChaK1, a protein kinase fused to the transient receptor potential ion channel
-
Ryazanova LV, Dorovkov MV, Ansari A et al. Characterization of the protein kinase activity of TRPM7/ChaK1, a protein kinase fused to the transient receptor potential ion channel. J Biol Chem 2004; 279: 3708-3716
-
(2004)
J Biol Chem
, vol.279
, pp. 3708-3716
-
-
Ryazanova, L.V.1
Dorovkov, M.V.2
Ansari, A.3
-
44
-
-
0035978239
-
LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability
-
Nadler MJ, Hermosura MC, Inabe K et al. LTRPC7 is a Mg.ATP-regulated divalent cation channel required for cell viability. Nature 2001; 411: 590-595
-
(2001)
Nature
, vol.411
, pp. 590-595
-
-
Nadler, M.J.1
Hermosura, M.C.2
Inabe, K.3
-
45
-
-
0042197392
-
Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7
-
Schmitz C, Perraud AL, Johnson CO et al. Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7. Cell 2003; 114: 191-200
-
(2003)
Cell
, vol.114
, pp. 191-200
-
-
Schmitz, C.1
Perraud, A.L.2
Johnson, C.O.3
-
46
-
-
0347683487
-
TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption
-
Voets T, Nilius B, Hoefs S et al. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption. J Biol Chem 2004; 279: 19-25
-
(2004)
J Biol Chem
, vol.279
, pp. 19-25
-
-
Voets, T.1
Nilius, B.2
Hoefs, S.3
-
47
-
-
1542297755
-
Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia
-
Chubanov V, Waldegger S, Mederos y Schnitzler M et al. Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc Natl Acad Sci USA 2004; 101: 2894-2899
-
(2004)
Proc Natl Acad Sci USA
, vol.101
, pp. 2894-2899
-
-
Chubanov, V.1
Waldegger, S.2
Mederos y Schnitzler, M.3
-
48
-
-
34147109145
-
Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative poreforming region of TRPM6
-
Chubanov V, Schlingmann KP, Wäring J et al. Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative poreforming region of TRPM6. J Biol Chem 2007; 282: 7656-7667
-
(2007)
J Biol Chem
, vol.282
, pp. 7656-7667
-
-
Chubanov, V.1
Schlingmann, K.P.2
Wäring, J.3
-
49
-
-
77957311476
-
Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: A case-control study
-
Romero JR, Castonguay AJ, Barton NS et al. Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study. Transl Res 2010; 156: 235-241
-
(2010)
Transl Res
, vol.156
, pp. 235-241
-
-
Romero, J.R.1
Castonguay, A.J.2
Barton, N.S.3
-
50
-
-
84863938534
-
Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy
-
Nair AV, Hocher B, Verkaart S et al. Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy. Proc Natl Acad Sci USA 2012; 109: 11324-9
-
(2012)
Proc Natl Acad Sci USA
, vol.109
, pp. 11324-11329
-
-
Nair, A.V.1
Hocher, B.2
Verkaart, S.3
-
51
-
-
0023241734
-
Renal magnesium wasting in two families with autosomal dominant inheritance
-
Geven WB, Monnens LA, Willems HL et al. Renal magnesium wasting in two families with autosomal dominant inheritance. Kidney Int 1987; 31: 1140-1144
-
(1987)
Kidney Int
, vol.31
, pp. 1140-1144
-
-
Geven, W.B.1
Monnens, L.A.2
Willems, H.L.3
-
52
-
-
0033763089
-
Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit
-
Meij IC, Koenderink JB, van Bokhoven H et al. Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet 2000; 26: 265-266
-
(2000)
Nat Genet
, vol.26
, pp. 265-266
-
-
Meij, I.C.1
Koenderink, J.B.2
Van Bokhoven, H.3
-
53
-
-
0037902500
-
Structure/function studies of the gamma subunit of the Na,K-ATPase
-
Blostein R, Pu HX, Scanzano R et al. Structure/function studies of the gamma subunit of the Na,K-ATPase. Ann N Y Acad Sci 2003; 986: 420-427
-
(2003)
Ann N y Acad Sci
, vol.986
, pp. 420-427
-
-
Blostein, R.1
Pu, H.X.2
Scanzano, R.3
-
54
-
-
38349046659
-
Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia
-
Cairo ER, Friedrich T, Swarts HG et al. Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia. Biochim Biophys Acta 2008; 1778: 398-404
-
(2008)
Biochim Biophys Acta
, vol.1778
, pp. 398-404
-
-
Cairo, E.R.1
Friedrich, T.2
Swarts, H.G.3
-
55
-
-
21444445095
-
Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability
-
Jones DH, Li TY, Arystarkhova E et al. Na,K-ATPase from mice lacking the gamma subunit (FXYD2) exhibits altered Na+ affinity and decreased thermal stability. J Biol Chem 2005; 280: 19003-19011
-
(2005)
J Biol Chem
, vol.280
, pp. 19003-19011
-
-
Jones, D.H.1
Li, T.Y.2
Arystarkhova, E.3
-
56
-
-
65249096581
-
A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia
-
Glaudemans B, van der Wijst J, Scola RH et al. A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. J Clin Invest 2009; 119: 936-942
-
(2009)
J Clin Invest
, vol.119
, pp. 936-942
-
-
Glaudemans, B.1
Van Der Wijst, J.2
Scola, R.H.3
-
57
-
-
73649084782
-
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia
-
van der Wijst J, Glaudemans B, Venselaar H et al. Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia. J Biol Chem 2010; 285: 171-178
-
(2010)
J Biol Chem
, vol.285
, pp. 171-178
-
-
Van Der Wijst, J.1
Glaudemans, B.2
Venselaar, H.3
-
58
-
-
79952469460
-
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia
-
Stuiver M, Lainez S, Will C et al. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet 2011; 88: 333-343
-
(2011)
Am J Hum Genet
, vol.88
, pp. 333-343
-
-
Stuiver, M.1
Lainez, S.2
Will, C.3
-
59
-
-
77957345374
-
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels
-
Meyer TE, Verwoert GC, Hwang SJ et al. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet 2010; 6: e1001045
-
(2010)
PLoS Genet
, vol.6
-
-
Meyer, T.E.1
Verwoert, G.C.2
Hwang, S.J.3
-
60
-
-
80052844338
-
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood
-
Faguer S, Decramer S, Chassaing N et al. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int 2011; 80: 768-776
-
(2011)
Kidney Int
, vol.80
, pp. 768-776
-
-
Faguer, S.1
Decramer, S.2
Chassaing, N.3
-
61
-
-
77953343713
-
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases
-
Heidet L, Decramer S, Pawtowski A et al. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010; 5: 1079-1090
-
(2010)
Clin J Am Soc Nephrol
, vol.5
, pp. 1079-1090
-
-
Heidet, L.1
Decramer, S.2
Pawtowski, A.3
-
62
-
-
65649146156
-
HNF1B mutations associate with hypomagnesemia and renal magnesium wasting
-
Adalat S, Woolf AS, Johnstone KA et al. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2009; 20: 1123-1131
-
(2009)
J Am Soc Nephrol
, vol.20
, pp. 1123-1131
-
-
Adalat, S.1
Woolf, A.S.2
Johnstone, K.A.3
-
63
-
-
84896816867
-
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting
-
Ferre S, de Baaij JH, Ferreira Pet al.Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 2014; 25: 574-586
-
(2014)
J Am Soc Nephrol
, vol.25
, pp. 574-586
-
-
Ferre, S.1
De Baaij, J.H.2
Ferreira, P.3
-
64
-
-
0023513620
-
Isolated autosomal recessive renal magnesium loss in two sisters
-
Geven WB, Monnens LA, Willems JL et al. Isolated autosomal recessive renal magnesium loss in two sisters. Clin Genet 1987; 32: 398-402
-
(1987)
Clin Genet
, vol.32
, pp. 398-402
-
-
Geven, W.B.1
Monnens, L.A.2
Willems, J.L.3
-
65
-
-
34547700632
-
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
-
Groenestege WM, Thébault S, van der Wijst J et al. Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest 2007; 117: 2260-2267
-
(2007)
J Clin Invest
, vol.117
, pp. 2260-2267
-
-
Groenestege, W.M.1
Thébault, S.2
Van Der Wijst, J.3
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