|
1）Choi M, Scholl UI, Yue P, et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science. 2011; 331: 768-72
|
|
|
|
2）Boulkroun S, Beuschlein F, Rossi GP, et al. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. Hypertension. 2012; 59: 592-8
|
|
|
|
|
|
3）Kitamoto T, Suematsu S, Matsuzawa Y, et al. Comparison of cardiovascular complications in patients with and without KCNJ5 gene mutations harboring aldosterone-producing adenomas. J Atheroscler Thromb. 2015; 22: 191-200
|
|
|
|
|
4）Azizan EA, Poulsen H, Tuluc P, et al. Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet. 2013; 45: 1055-60
|
|
|
|
|
|
5）Beuschlein F, Boulkroun S, Osswald A, et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet. 2013; 45: 440-4, 4e1-2
|
|
|
|
|
|
6）Scholl UI, Goh G, Stolting G, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013; 45: 1050-4
|
|
|
|
|
|
7）Scholl UI, Stolting G, Nelson-Williams C, et al. Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. eLife. 2015; 4(e06315)
|
|
|
|
|
|
8）Cruz DN, Simon DB, Nelson-Williams C, et al. Mutations in the Na-Cl cotransporter reduce blood pressure in humans. Hypertension. 2001; 37: 1458-64
|
|
|
|
|
|
9）Wall SM, Weinstein AM. Cortical distal nephron Cl(-) transport in volume homeostasis and blood pressure regulation. Am J Physiol Renal Physiol. 2013; 305: F427-38
|
|
|
|
|
|
10）Hou J, Renigunta A, Yang J, et al. Claudin-4 forms paracellular chloride channel in the kidney and requires claudin-8 for tight junction localization. Proc Natl Acad Sci U S A. 2010; 107: 18010-5
|
|
|
|
|
|
11）Royaux IE, Wall SM, Karniski LP, et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A. 2001; 98: 4221-6
|
|
|
|
|
|
12）Jacques T, Picard N, Miller RL, et al. Overexpression of pendrin in intercalated cells produces chloride-sensitive hypertension. J Am Soc Nephrol. 2013; 24: 1104-13
|
|
|
|
|
|
13）Soleimani M, Barone S, Xu J, et al. Double knockout of pendrin and Na-Cl cotransporter (NCC) causes severe salt wasting, volume depletion, and renal failure. Proc Natl Acad Sci U S A. 2012; 109: 13368-73
|
|
|
|
|
|
14）Kurtz TW, Al-Bander HA, Morris RC Jr. “Salt-sensitive” essential hypertension in men. Is the sodium ion alone important? N Engl J Med. 1987; 317: 1043-8
|
|
|
|
|
|
15）Luke RG, Galla JH. It is chloride depletion alkalosis, not contraction alkalosis. J Am Soc Nephrol. 2012; 23: 204-7
|
|
|
|
|
|
16）Terada Y, Knepper MA. Thiazide-sensitive NaCl absorption in rat cortical collecting duct. Am J Physiol. 1990; 259(3 Pt 2): F519-28
|
|
|
|
|
|
17）Leviel F, Hubner CA, Houillier P, et al. The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice. J Clin Invest. 2010; 120: 1627-35
|
|
|
|
|
|
18）Karet FE, Finberg KE, Nelson RD, et al. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. Nat Genet. 1999; 21: 84-90
|
|
|
|
|
|
19）Finberg KE, Wagner CA, Bailey MA, et al. The B1-subunit of the H(+) ATPase is required for maximal urinary acidification. Proc Natl Acad Sci U S A. 2005; 102: 13616-21
|
|
|
|
|
|
20）Gueutin V, Vallet M, et al. Renal beta-intercalated cells maintain body fluid and electrolyte balance. J Clin Invest. 2013; 123: 4219-31
|
|
|
|
|
|
21）Hollenberg AN. Metabolic health and nuclear-receptor sensitivity. N Engl J Med. 2012; 366: 1345-7
|
|
|
|
|
|
22）Shibata S, Nagase M, Yoshida S, et al. Modification of mineralocorticoid receptor function by Rac1 GTPase: implication in proteinuric kidney disease. Nat Med. 2008; 14: 1370-6
|
|
|
|
|
|
23）Shibata S, Mu S, Kawarazaki H, et al. Rac1 GTPase in rodent kidneys is essential for salt-sensitive hypertension via a mineralocorticoid receptor-dependent pathway. J Clin Invest. 2011; 121: 3233-43
|
|
|
|
|
|
24）Choi JH, Banks AS, Estall JL, et al. Anti-diabetic drugs inhibit obesity-linked phosphorylation of PPARgamma by Cdk5. Nature. 2010; 466: 451-6
|
|
|
|
|
|
25）Shibata S, Rinehart J, Zhang J, et al. Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metab. 2013; 18: 660-71
|
|
|
|
|
|
26）Ortlund EA, Bridgham JT, Redinbo MR, et al. Crystal structure of an ancient protein: evolution by conformational epistasis. Science. 2007; 317: 1544-8
|
|
|
|
|
|
27）Terker AS, Zhang C, McCormick JA, et al. Potassium modulates electrolyte balance and blood pressure through effects on distal cell voltage and chloride. Cell Metab. 2015; 21: 39-50
|
|
|
|
|
|
28）Kahle KT, Ring AM, Lifton RP. Molecular physiology of the WNK kinases. Annu Rev Physiol. 2008; 70: 329-55
|
|
|
|
|
|
29）Ohta A, Schumacher FR, Mehellou Y, et al. The CUL3-KLHL3 E3 ligase complex mutated in Gordon’s hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing mutations in KLHL3 and WNK4 disrupt interaction. Biochem J. 2013; 451: 111-22
|
|
|
|
|
|
30）Wakabayashi M, Mori T, Isobe K, et al. Impaired KLHL3-mediated ubiquitination of WNK4 causes human hypertension. Cell Rep. 2013; 3: 858-68
|
|
|
|
|
|
31）Shibata S, Zhang J, Puthumana J, et al. Kelch-like 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4. Proc Natl Acad Sci U S A. 2013; 110: 7838-43
|
|
|
|
|
|
32）Shibata S, Arroyo JP, Castaneda-Bueno M, et al. Angiotensin II signaling via protein kinase C phosphorylates Kelch-like 3, preventing WNK4 degradation. Proc Natl Acad Sci U S A. 2014; 111: 15556-61
|
|
|
|
|