Published in Proc Natl Acad Sci U S A on January 30, 2012
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09
Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat Genet (2014) 1.63
Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter. PLoS One (2012) 1.30
Role of KCNJ5 in familial and sporadic primary aldosteronism. Nat Rev Endocrinol (2012) 1.20
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension. J Clin Endocrinol Metab (2012) 1.20
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III. J Clin Endocrinol Metab (2013) 1.05
A novel KCNJ5-insT149 somatic mutation close to, but outside, the selectivity filter causes resistant hypertension by loss of selectivity for potassium. J Clin Endocrinol Metab (2014) 1.02
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife (2015) 1.01
Genetics and epigenetics of adrenocortical tumors. Mol Cell Endocrinol (2013) 1.01
cAMP/PKA signaling defects in tumors: genetics and tissue-specific pluripotential cell-derived lesions in human and mouse. Mol Cell Endocrinol (2013) 0.97
Primary Aldosteronism and ARMC5 Variants. J Clin Endocrinol Metab (2015) 0.97
The potassium channel, Kir3.4 participates in angiotensin II-stimulated aldosterone production by a human adrenocortical cell line. Endocrinology (2012) 0.92
Overview of the genetic determinants of primary aldosteronism. Appl Clin Genet (2014) 0.88
Minireview: potassium channels and aldosterone dysregulation: is primary aldosteronism a potassium channelopathy? Endocrinology (2013) 0.87
Prevalence and characterization of somatic mutations in Chinese aldosterone-producing adenoma patients. Medicine (Baltimore) (2015) 0.87
Prevalence and clinical correlates of somatic mutation in aldosterone producing adenoma-Taiwanese population. Sci Rep (2015) 0.86
Integrated analysis of genome-wide methylation and gene expression shows epigenetic regulation of CYP11B2 in aldosteronomas. J Clin Endocrinol Metab (2013) 0.85
Different Somatic Mutations in Multinodular Adrenals With Aldosterone-Producing Adenoma. Hypertension (2015) 0.84
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism. EBioMedicine (2016) 0.84
A case of severe hyperaldosteronism caused by a de novo mutation affecting a critical salt bridge Kir3.4 residue. J Clin Endocrinol Metab (2015) 0.84
Altered and dynamic ion selectivity of K+ channels in cell development and excitability. Trends Pharmacol Sci (2014) 0.83
Understanding primary aldosteronism: impact of next generation sequencing and expression profiling. Mol Cell Endocrinol (2014) 0.83
Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas. Proc Natl Acad Sci U S A (2015) 0.83
Intracellular Molecular Differences in Aldosterone- Compared to Cortisol-Secreting Adrenal Cortical Adenomas. Front Endocrinol (Lausanne) (2016) 0.82
Genetic variations in the KCNJ5 gene in primary aldosteronism patients from Xinjiang, China. PLoS One (2013) 0.82
Ion channel associated diseases: overview of molecular mechanisms. Chem Rev (2012) 0.82
Management of Resistant Hypertension: Do Not Give Up on Medication. Nephrol Self Assess Program (2014) 0.81
Role of the Renin-Angiotensin-Aldosterone System beyond Blood Pressure Regulation: Molecular and Cellular Mechanisms Involved in End-Organ Damage during Arterial Hypertension. Int J Mol Sci (2016) 0.80
Mutated KCNJ5 activates the acute and chronic regulatory steps in aldosterone production. J Mol Endocrinol (2016) 0.79
Molecular and Cellular Mechanisms of Aldosterone Producing Adenoma Development. Front Endocrinol (Lausanne) (2015) 0.79
Two-pore domain potassium channels in the adrenal cortex. Pflugers Arch (2014) 0.78
Somatic mutations of the ATP1A1 gene and aldosterone-producing adenomas. Mol Cell Endocrinol (2014) 0.78
Regulation of aldosterone biosynthesis by the Kir3.4 (KCNJ5) potassium channel. Clin Exp Pharmacol Physiol (2013) 0.78
The molecular basis of blood pressure variation. Pediatr Nephrol (2012) 0.78
Channels and pumps in aldosterone-producing adenomas. J Clin Endocrinol Metab (2014) 0.78
Disordered zonal and cellular CYP11B2 enzyme expression in familial hyperaldosteronism type 3. Mol Cell Endocrinol (2016) 0.78
Recent genetic discoveries implicating ion channels in human cardiovascular diseases. Curr Opin Pharmacol (2013) 0.77
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion. Clin Endocrinol (Oxf) (2016) 0.77
Role of ACTH and Other Hormones in the Regulation of Aldosterone Production in Primary Aldosteronism. Front Endocrinol (Lausanne) (2016) 0.76
A Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome. J Clin Endocrinol Metab (2016) 0.76
Uncoupling of secretion from growth in some hormone secretory tissues. J Clin Endocrinol Metab (2014) 0.75
Gene mutations that promote adrenal aldosterone production, sodium retention, and hypertension. Appl Clin Genet (2013) 0.75
Immunohistochemistry of the adrenal in primary aldosteronism. Curr Opin Endocrinol Diabetes Obes (2016) 0.75
The Challenges of Arterial Hypertension. Front Cardiovasc Med (2015) 0.75
Primary aldosteronism: a channelopathy? Hypertension (2014) 0.75
Familial hyperaldosteronism type III. J Hum Hypertens (2017) 0.75
Macrolides selectively inhibit mutant KCNJ5 potassium channels that cause aldosterone-producing adenoma. J Clin Invest (2017) 0.75
The Future of "Omics" in Hypertension. Can J Cardiol (2016) 0.75
The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure: the JNC 7 report. JAMA (2003) 97.28
The structure of the potassium channel: molecular basis of K+ conduction and selectivity. Science (1998) 39.86
Global burden of hypertension: analysis of worldwide data. Lancet (2005) 32.76
Molecular mechanisms of human hypertension. Cell (2001) 11.17
Mutations in the K+ channel signature sequence. Biophys J (1994) 6.81
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
The G-protein-gated atrial K+ channel IKACh is a heteromultimer of two inwardly rectifying K(+)-channel proteins. Nature (1995) 4.96
A prospective study of the prevalence of primary aldosteronism in 1,125 hypertensive patients. J Am Coll Cardiol (2006) 3.74
A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature (1992) 3.40
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab (2008) 2.48
Genetic dissection of human blood pressure variation: common pathways from rare phenotypes. Harvey Lect (2006) 2.32
Recent trends in the prevalence of high blood pressure and its treatment and control, 1999-2008. NCHS Data Brief (2010) 1.77
Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan. Hypertens Res (2004) 1.68
TASK (TWIK-related acid-sensitive K+ channel) is expressed in glomerulosa cells of rat adrenal cortex and inhibited by angiotensin II. Mol Endocrinol (2000) 1.57
An ACTH- and ATP-regulated background K+ channel in adrenocortical cells is TREK-1. J Biol Chem (2002) 1.37
Primary aldosteronism: clinical staff conference at the National Institutes of Health. Ann Intern Med (1958) 1.17
Familial hyperaldosteronism, not suppressed by dexamethasone. J Clin Endocrinol Metab (1982) 1.11
Adrenocortical stem and progenitor cells: unifying model of two proposed origins. Mol Cell Endocrinol (2010) 1.09
Characterization of rat capsular adrenal (zona glomerulosa) (Na,K)-ATPase activity. J Steroid Biochem (1982) 0.83
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med (2002) 11.28
Diverse somatic mutation patterns and pathway alterations in human cancers. Nature (2010) 10.83
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature (2010) 10.04
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA (2007) 7.12
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med (2010) 6.45
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med (2009) 4.96
Somatic mutations in p85alpha promote tumorigenesis through class IA PI3K activation. Cancer Cell (2009) 4.47
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Deubiquitinase USP9X stabilizes MCL1 and promotes tumour cell survival. Nature (2009) 4.12
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet (2003) 4.08
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet (2006) 3.57
Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A (2003) 3.48
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
Management of high blood pressure in children and adolescents: recommendations of the European Society of Hypertension. J Hypertens (2009) 3.13
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
L-histidine decarboxylase and Tourette's syndrome. N Engl J Med (2010) 2.92
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
Aberrantly glycosylated IgA1 in IgA nephropathy patients is recognized by IgG antibodies with restricted heterogeneity. J Clin Invest (2009) 2.82
Androgen deprivation causes epithelial-mesenchymal transition in the prostate: implications for androgen-deprivation therapy. Cancer Res (2011) 2.71
Molecular physiology of the WNK kinases. Annu Rev Physiol (2008) 2.58
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab (2008) 2.48
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet (2008) 2.31
Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proc Natl Acad Sci U S A (2009) 2.30
C1q nephropathy: features at presentation and outcome. Pediatr Nephrol (2005) 2.29
The pathophysiology of IgA nephropathy. J Am Soc Nephrol (2011) 2.27
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (2010) 2.21
Roles of the cation-chloride cotransporters in neurological disease. Nat Clin Pract Neurol (2008) 2.19
IgA1-secreting cell lines from patients with IgA nephropathy produce aberrantly glycosylated IgA1. J Clin Invest (2008) 2.15
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09
Individual genomes on the horizon. N Engl J Med (2010) 2.09
IgA1-containing immune complexes in IgA nephropathy differentially affect proliferation of mesangial cells. Kidney Int (2005) 2.08
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet (2006) 2.07
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A (2013) 2.02
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet (2009) 2.02
Aberrant glycosylation of IgA1 is inherited in both pediatric IgA nephropathy and Henoch-Schönlein purpura nephritis. Kidney Int (2011) 2.01
Genomic distribution and functional analyses of potential G-quadruplex-forming sequences in Saccharomyces cerevisiae. Nucleic Acids Res (2007) 1.98
Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96
WNK3 kinase is a positive regulator of NKCC2 and NCC, renal cation-Cl- cotransporters required for normal blood pressure homeostasis. Proc Natl Acad Sci U S A (2005) 1.96
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science (2004) 1.95
Sites of regulated phosphorylation that control K-Cl cotransporter activity. Cell (2009) 1.93
Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet (2008) 1.90
Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat Genet (2011) 1.89
Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases. Proc Natl Acad Sci U S A (2008) 1.88
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet (2004) 1.87
Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet (2010) 1.86
WNK1, a kinase mutated in inherited hypertension with hyperkalemia, localizes to diverse Cl- -transporting epithelia. Proc Natl Acad Sci U S A (2003) 1.82
Bcl-2, Bcl-x(L), and Bcl-w are not equivalent targets of ABT-737 and navitoclax (ABT-263) in lymphoid and leukemic cells. Blood (2012) 1.81
TRPS1 targeting by miR-221/222 promotes the epithelial-to-mesenchymal transition in breast cancer. Sci Signal (2011) 1.81
Phosphatidylinositol 4,5-bisphosphate mediates the targeting of the exocyst to the plasma membrane for exocytosis in mammalian cells. Mol Biol Cell (2007) 1.77
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability. Proc Natl Acad Sci U S A (2005) 1.76
Aberrant IgA1 glycosylation is inherited in familial and sporadic IgA nephropathy. J Am Soc Nephrol (2008) 1.76
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. J Clin Invest (2013) 1.74
Mineralocorticoid receptor phosphorylation regulates ligand binding and renal response to volume depletion and hyperkalemia. Cell Metab (2013) 1.72
WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia. Proc Natl Acad Sci U S A (2004) 1.71
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci U S A (2011) 1.71
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis. PLoS Genet (2012) 1.69
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest (2015) 1.69
Paracellular Cl- permeability is regulated by WNK4 kinase: insight into normal physiology and hypertension. Proc Natl Acad Sci U S A (2004) 1.68
Renal angiography in children with polyarteritis nodosa. Pediatr Nephrol (2002) 1.68
APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy. J Am Soc Nephrol (2011) 1.67
An SGK1 site in WNK4 regulates Na+ channel and K+ channel activity and has implications for aldosterone signaling and K+ homeostasis. Proc Natl Acad Sci U S A (2007) 1.65
Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol (2006) 1.63
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
Clinical features in 17 paediatric patients with Wegener granulomatosis. Pediatr Nephrol (2002) 1.62
Salt-sensitive hypertension is associated with dysfunctional Cyp4a10 gene and kidney epithelial sodium channel. J Clin Invest (2006) 1.59
Adrenal involvement in the antiphospholipid syndrome: clinical and immunologic characteristics of 86 patients. Medicine (Baltimore) (2003) 1.58