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89
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90
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This landmark paper reported a germline mutation in KCNJ5, a potassium channel gene, in a family with florid PA, and somatic KCNJ5 mutations in 8 (36%) of 22 APAs. When expressed in vitro, the mutations led to increased sodium conductance and cell depolarization, which in adrenal glomerulosa cells produces calcium entry, the signal for aldosterone production and cell proliferation
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94
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95
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Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, et al. KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism. Hypertension. 2012;59:235-40.
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96
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84863393293
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Somatic mutations affecting the selectivity filter of KCNJ5 are frequent in 2 large unselected collections of adrenal aldosteronomas
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97
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84891628322
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98
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84864612057
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Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter
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Akerstrom T, Crona J, Delgado VA, Starker LF, Cupisti K, Willenberg HS, et al. Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS ONE. 2012;7:e41926.
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99
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100
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84857623168
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101
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103
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Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
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This paper reported somatic mutations in CACNA1D (encodes a voltage-gated calcium channel) in 11% of APAs
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.• Scholl UI, Goh G, Stolting G, de Oliviera RC, Choi M, Overton JD, et al. Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet. 2013;45:1050-4. This paper reported somatic mutations in CACNA1D (encodes a voltage-gated calcium channel) in 11% of APAs.
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Scholl, U.I.1
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104
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105
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84897054016
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Murthy M, Xu S, Massimo G,Wolley M, Gordon RD, Stowasser M, et al. Role for germline mutations and a rare coding single nucleotide polymorphism within the KCNJ5 potassium channel in a large cohort of sporadic cases of primary aldosteronism. Hypertension. 2014;63:783-9.
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Hypertension
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Murthy, M.1
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