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MacKenzie, S. M. , Freel, M., Connell, J. M., Fraser, R. and Davies, E. (2017) ACTH and polymorphisms at steroidogenic loci as determinants of aldosterone secretion and blood pressure. International Journal of Molecular Sciences, 18(3), 579. (doi: 10.3390/ijms18030579) (PMID:28272372) (PMCID:PMC5372595)

Alvarez-Madrazo, S. et al. (2013) Common polymorphisms in the CYP11B1 and CYP11B2 genes: evidence for a digenic influence on hypertension. Hypertension, 61(1), pp. 232-239. (doi: 10.1161/HYPERTENSIONAHA.112.200741)

MacKenzie, S. M. , Connell, J. M.C. and Davies, E. (2012) Non-adrenal synthesis of aldosterone: A reality check. Molecular and Cellular Endocrinology, 350(2), pp. 163-167. (doi: 10.1016/j.mce.2011.06.026)

Johnson, T. et al. (2011) Blood pressure loci identified with a gene-centric array. American Journal of Human Genetics, 89(6), pp. 688-700. (doi: 10.1016/j.ajhg.2011.10.013)

Ehret, G. B. et al. (2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature, 478(7367), pp. 103-109. (doi: 10.1038/nature10405)

Alvarez-Madrazo, S., Connell, J.M. and Freel, E.M. (2011) Role of genetic variation in regulation of aldosterone biosynthesis. Endocrine Development, 20, pp. 106-115. [Book Review]

Arlt, W. et al. (2010) Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. Journal of Clinical Endocrinology and Metabolism, 95(11), pp. 5110-5121. (doi: 10.1210/jc.2010-0917)

Chambers, J. C. et al. (2010) Genetic loci influencing kidney function and chronic kidney disease. Nature Genetics, 42(5), pp. 373-375. (doi: 10.1038/ng.566)

Dorrian, C. A., Toole, B. J., Alvarez-Madrazo, S., Kelly, A., Connell, J. M. C. and Wallace, A. M. (2010) A screening procedure for primary aldosteronism based on the Diasorin Liaison® automated chemiluminescent immunoassay for direct renin. Annals of Clinical Biochemistry, 47(3), pp. 195-199. (doi: 10.1258/acb.2010.009230)

McNeilly, A. D. et al. (2010) Bile acids modulate glucocorticoid metabolism and the hypothalamic-pituitary-adrenal axis in obstructive jaundice. Journal of Hepatology, 52(5), pp. 705-711. (doi: 10.1016/j.jhep.2009.10.037)

Craddock, N. et al. (2010) Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature, 464(7289), 713-U86. (doi: 10.1038/nature08979)

Paul, L., Hastie, C. E. , Li, W. S., Harrow, C., Muir, S., Connell, J. M.C., Dominiczak, A. F. , McInnes, G. T. and Padmanabhan, S. (2010) Resting heart rate pattern during follow-up and mortality in hypertensive patients. Hypertension, 55(2), pp. 567-574. (doi: 10.1161/HYPERTENSIONAHA.109.144808)

Parthasarathy, H. K., Alhashmi, K., McMahon, A. D. , Struthers, A. D., McInnes, G. T., Ford, I. , Connell, J. M. and MacDonald, T. M. (2010) Does the ratio of serum aldosterone to plasma renin activity predict the efficacy of diuretics in hypertension? Results of RENALDO. Journal of Hypertension, 28(1), pp. 170-177. (doi: 10.1097/HJH.0b013e328332b79b)

Padmanabhan, S. et al. (2010) Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genetics, 6(10), e1001177. (doi: 10.1371/journal.pgen.1001177)

Freel, E.M., Tsorlalis, I.K., Lewsey, J.D., Latini, R., Maggioni, A.P., Solomon, S., Pitt, B., Connell, J.M.C. and McMurray, J.J.V. (2009) Aldosterone status associates with insulin resistance in patients with heart failure-data from the ALOFT study. Heart, 95(23), pp. 1920-1924. (doi: 10.1136/hrt.2009.173344)

Alvarez-Madrazo, S., Padmanabhan, S., Mayosi, B. M., Watkins, H., Avery, P., Wallace, A. M., Fraser, R., Davies, E., Connell, J. M. and Keavney, B. (2009) Familial and phenotypic associations of the aldosterone renin ratio. Journal of Clinical Endocrinology and Metabolism, 94(11), pp. 4324-4333. (doi: 10.1210/jc.2009-1406)

Nolte, I. M. et al. (2009) Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies. PLoS ONE, 4(7), e6138. (doi: 10.1371/journal.pone.0006138)

Sõber, S. et al. (2009) Targeting 160 candidate genes for blood pressure regulation with a genome-wide genotyping array. PLoS ONE, 4(6), e6034. (doi: 10.1371/journal.pone.0006034)

Org, E. et al. (2009) Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations. Human Molecular Genetics, 18(12), pp. 2288-2296. (doi: 10.1093/hmg/ddp135)

Newton-Cheh, C. et al. (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nature Genetics, 41(6), pp. 666-676. (doi: 10.1038/ng.361)

Reynolds, R. M., Walker, B. R., Phillips, D. I., Dennison, E. M., Fraser, R., MacKenzie, S. M., Davies, E. and Connell, J. M. (2009) Programming of hypertension: associations of plasma aldosterone in adult men and women with birthweight, cortisol, and blood pressure. Hypertension, 53(6), pp. 932-936. (doi: 10.1161/​HYPERTENSIONAHA.109.129320)

Brand, O. J. et al. (2009) Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. Human Molecular Genetics, 18(9), pp. 1704-1713. (doi: 10.1093/hmg/ddp087)

Newhouse, S. et al. (2009) Polymorphisms in the WNK1 gene are associated with blood pressure variation and urinary potassium excretion. PLoS ONE, 4(4), e5003. (doi: 10.1371/journal.pone.0005003)

Davies, E., MacKenzie, S. M., Freel, E. M., Alvarez-Madrazo, S., Fraser, R. and Connell, J. M.C. (2009) Altered corticosteroid biosynthesis in essential hypertension: a digenic phenomenon. Molecular and Cellular Endocrinology, 300(1-2), pp. 185-191. (doi: 10.1016/j.mce.2008.09.014)

Holloway, C.D. et al. (2009) Effects of genetic variation in the aldosterone synthase (CYP11B2) gene on enzyme function. Clinical Endocrinology, 70(3), pp. 363-371. (doi: 10.1111/j.1365-2265.2008.03383.x)

Willer, C. J. et al. (2009) Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nature Genetics, 41(1), pp. 25-34. (doi: 10.1038/ng.287)

Kolz, M. et al. (2009) Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genetics, 5(6), e1000504. (doi: 10.1371/journal.pgen.1000504)

Huda, S. S., MacKenzie, S. M., Sattar, N., Fraser, R., Connell, J. M. C. and Davies, E. (2008) Depot-specific steroidogenic gene transcription in human adipose tissue. Clinical Endocrinology, 69(6), pp. 848-854. (doi: 10.1111/j.1365-2265.2008.03262.x)

Caulfield, M. J. et al. (2008) SLC2A9 is a high-capacity urate transporter in humans. PLoS Medicine, 5(10), e197. (doi: 10.1371/journal.pmed.0050197)

Lavery, G. G. et al. (2008) Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. Journal of Clinical Endocrinology and Metabolism, 93(10), pp. 3827-3832. (doi: 10.1210/jc.2008-0743)

Loos, R. J. F. et al. (2008) Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics, 40(6), pp. 768-775. (doi: 10.1038/ng.140)

Padmanabhan, S. , Melander, O., Hastie, C., Menni, C., Delles, C. , Connell, J. M. and Dominiczak, A. F. (2008) Hypertension and genome-wide association studies: combining high fidelity phenotyping and hypercontrols. Journal of Hypertension, 26(7), pp. 1275-1281. (doi: 10.1097/HJH.0b013e3282ff634f)

Delles, C. et al. (2008) Glutathione S-transferase variants and hypertension. Journal of Hypertension, 26(7), pp. 1343-1352. (doi: 10.1097/HJH.0b013e3282fe1d67)

Freel, E.M., Ingram, M., Wallace, A.M., White, A., Fraser, R., Davies, E. and Connell, J.M.C. (2008) Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. Clinical Endocrinology, 68(5), pp. 700-706. (doi: 10.1111/j.1365-2265.2007.03116.x)

Boyle, J. G., Logan, P. J., Ewart, M.-A., Reihill, J. A., Ritchie, S. A., Connell, J. M.C., Cleland, S. J. and Salt, I. P. (2008) Rosiglitazone stimulates nitric oxide synthesis in human aortic endothelial cells via AMP-activated protein kinase. Journal of Biological Chemistry, 283(17), pp. 11210-11217. (doi: 10.1074/jbc.M710048200)

Connell, J. M.C., MacKenzie, S. M. , Freel, E. M., Fraser, R. and Davies, E. (2008) A lifetime of aldosterone excess: long-term consequences of altered regulation of aldosterone production for cardiovascular function. Endocrine Reviews, 29(2), pp. 133-154. (doi: 10.1210/er.2007-0030)

Parnaby, C.N., Chong, P.S., Chisholm, L., Farrow, J., Connell, J. and Dwyer, P.J.O. (2008) The role of laparoscopic adrenalectomy for adrenal tumours of 6 cm or greater. Surgical Endoscopy, 22(3), pp. 617-621. (doi: 10.1007/s00464-007-9709-7)

Ye, P., Kenyon, C. J., MacKenzie, S. M. , Nichol, K., Seckl, J. R., Fraser, R., Connell, J. M.C. and Davies, E. (2008) Effects of ACTH, dexamethasone, and adrenalectomy on 11 β-hydroxylase (CYP11B1) and aldosterone synthase(CYP11B2) gene expression in the rat central nervous system. Journal of Endocrinology, 196(2), pp. 305-311. (doi: 10.1677/JOE-07-0439)

Wallace, C. et al. (2008) Genome-wide association study identifies genes for biomarkers of cardiovascular disease: Serum urate and dyslipiclemia. American Journal of Human Genetics, 82(1), pp. 139-149. (doi: 10.1016/j.ajhg.2007.11.001)

MacKenzie, S. M. , Dewar, D. , Stewart, W. , Fraser, R., Connell, J. M. C. and Davies, E. (2008) The transcription of steroidogenic genes in the human cerebellum and hippocampus: a comparative survey of normal and Alzheimer's tissue. Journal of Endocrinology, 196(1), pp. 123-130. (doi: 10.1677/JOE-07-0427)

McManus, F., McInnes, G. T. and McConnell, J. M. C. (2008) Drug Insight: eplerenone, a mineralocorticoid-receptor antagonist. Nature Reviews Endocrinology, 4(1), pp. 44-52. (doi: 10.1038/ncpendmet0676)

Parthasarathy, H., Alhashmi, K., Struthers, A., Connell, J., McInnes, G., Ford, I. and MacDonald, T. (2008) Does the aldosterone: Renin ratio predict the efficacy of spironolactone over bendroflumethiazide in hypertension: The Renaldo study. Heart, 94, A19-A19.

Freel, E.M. et al. (2007) Phenotypic consequences of variation across the aldosterone synthase and 11-beta hydroxylase locus in a hypertensive cohort: data from the MRC BRIGHT Study. Clinical Endocrinology, 67(6), pp. 832-838. (doi: 10.1111/j.1365-2265.2007.02971.x)

Thomson, A.H., Devers, M.C., Wallace, A.M., Grant, D., Campbell, K., Freel, E.M. and Connell, J.M.C. (2007) Variability in hydrocortisone plasma and saliva pharmacokinetics following intravenous and oral administration to patients with adrenal insufficiency. Clinical Endocrinology, 66(6), pp. 789-796. (doi: 10.1111/j.1365-2265.2007.02812.x)

Freel, E.M., Bernhardt, M., Ingram, R., Wallace, A.M., Fraser, R., Davies, E. and Connell, J.M.C. (2007) Endogenous corticosteroid biosynthesis in subjects after bilateral adrenalectomy. Clinical Endocrinology, 66(5), pp. 659-665. (doi: 10.1111/j.1365-2265.2007.02791.x)

Kernohan, A. F. B., Sattar, N., Hilditch, T., Cleland, S. J., Small, M., Lumsden, M. A., Connell, J. M. C. and Petrie, J. R. (2007) Effects of low-dose continuous combined hormone replacement therapy on glucose homeostasis and markers of cardiovascular risk in women with type 2 diabetes. Clinical Endocrinology, 66(1), pp. 27-34. (doi: 10.1111/j.1365-2265.2006.02679.x)

Parthasarathy, H., Alhashmi, K., Mcmahon, A., Struthers, A., Connell, J., McInnes, G., Ford, I. and MacDonald, T. (2007) Does the aldosterone: renin ratio (ARR) predict the efficacy of spironolactone over bendroflumethiazide in hypertension? The RENALDO study. Journal of Human Hypertension, 21(10), p. 828.

Barr, M. et al. (2007) Polymorphic variation in the 11 beta-hydroxylase gene associates with reduced 11-hydroxylase efficiency. Hypertension, 49(1), pp. 113-119. (doi: 10.1161/01.HYP.0000249904.93940.7a)

Marcano, A. C. B. et al. (2007) Genetic association analysis of inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) variants with essential hypertension. Journal of Medical Genetics, 44(9), pp. 603-605. (doi: 10.1136/jmg.2007.049718)

Baker, M., Rahman, T., Hall, D., Avery, P., Mayosi, B., Connell, J., Farrall, M., Watkins, H. and Keavneyl, B. (2007) The C-532T polymorphism of the angiotensinogen gene is associated with pulse pressure: A possible explanation for heterogeneity in genetic association studies of AGT and hypertension. International Journal of Epidemiology, 36(6), pp. 1356-1362.

McManus, F., Freel, E. and Connell, J. (2007) Hypertension. Scottish Medical Journal, 52(4), pp. 36-42.

Parthasarathy, H.K., Alhashmi, K., McMahon, A., Struthers, A.D., Connell, J.M.C., McInnes, G.T., Ford, I. and MacDonald, T.M. (2007) Does the aldosterone : renin ratio predict the efficacy of spironolactone over bendroflumethiazide in hypertension? A clinical trial protocol for RENALDO (RENin-ALDOsterone) study. BMC Cardiovascular Disorders, 7(14), (doi: 10.1186/1471-2261-7-14)

Padmanabhan, S. et al. (2006) Chromosome 2p shows significant linkage to antihypertensive response in the British genetics of hypertension study. Hypertension, 47(3), pp. 603-608. (doi: 10.1161/01.HYP.0000197947.62601.9d)

Wallace, C. et al. (2006) Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension. American Journal of Human Genetics, 79(2), pp. 323-331. (doi: 10.1086/506370)

Imrie, H. et al. (2006) Association between aldosterone production and variation in the 11 beta-hydroxylase (CYP11B1) gene. Journal of Clinical Endocrinology and Metabolism, 91(12), pp. 5051-5056. (doi: 10.1210/jc.2006-1481)

Barr, M., MacKenzie, S. , Wilkinson, D., Holloway, C., Friel, E., Miller, S., MacDonald, T., Fraser, R., Connell, J. and Davies, E. (2006) Functional effects of genetic variants in the 11 beta-hydroxylase (CYP11B1) gene. Clinical Endocrinology, 65, pp. 816-825. (doi: 10.1111/j.1365-2265.2006.02673.x)

Munroe, P. et al. (2006) Increased support for linkage of a novel locus on chromosome 5q13 for essential hypertension in the British genetics of hypertension study. Hypertension, 48(1), pp. 105-111. (doi: 10.1161/01.HYP.0000228324.74255.f1)

Bell, J. et al. (2006) Two-dimensional genome-scan identifies novel epistatic loci for essential hypertension. Human Molecular Genetics, 15(8), pp. 1365-1374. (doi: 10.1093/hmg/ddl058)

Taylor, J. et al. (2006) A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease. Journal of Clinical Endocrinology and Metabolism, 91, pp. 646-653. (doi: 10.1210/jc.2005-0686)

Freel, E. M. and Connell, J. M. C. (2005) Diagnosis of adenomatous primary aldosteronism in a patient with severe hypertension. Nature Clinical Practice Endocrinology and Metabolism, 1(2), pp. 111-115. (doi: 10.1038/ncpendmet0047)

Ye, P. et al. (2005) The aldosterone synthase (CYP11B2) and 11 beta-hydroxylase (CYP11B1) genes are not expressed in the rat heart. Endocrinology, 146(12), pp. 5287-5293. (doi: 10.1210/en.2005-0370) (PMID:16179417)

Newhouse, S. et al. (2005) Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study. Human Molecular Genetics, 14(13), pp. 1805-1814. (doi: 10.1093/hmg/ddi187)

McCallum, R., Sainsbury, C., Spiers, A., Dominiczak, A., Petrie, J. , Sattar, N. and Connell, J. (2005) Growth hormone replacement reduces C-reactive protein and large-artery stiffness but does not alter endothelial function in patients with adult growth hormone deficiency. Clinical Endocrinology, 62(4), pp. 473-479. (doi: 10.1111/j.1365-2265.2005.02245.x)

Gaukrodger, N., Mayosi, B., Imrie, H., Avery, P., Baker, M., Connell, J., Watkins, H., Farrall, M. and Keavney, B. (2005) A rare variant of the leptin gene has large effects on blood pressure and carotid intima-medial thickness: a study of 1428 individuals in 248 families. Journal of Medical Genetics, 42, pp. 474-478. (doi: 10.1136/jmg.2004.027631)

Stergiou, G., Efstathiou, S., Inglis, G., Connell, J., McInnes, G. and Mountokalakis, T. (2005) Association of renin-angiotensin system gene polymorphisms with antihypertensive responses to angiotensin-converting enzyme inhibition or angiotensin receptor blockade. Journal of Human Hypertension, 19, pp. 971-974. (doi: 10.1038/sj.jhh.1001918)

Connell, J. and Davies, E. (2005) The new biology of aldosterone. Journal of Endocrinology, 186, pp. 1-20. (doi: 10.1677/joe.1.06017)

Imrie, H., Mayosi, B., Baker, M., Fraser, R., Davies, E. , Ingram, M., Watkins, H., Farrall, M., Connell, J. and Keavney, B. (2005) Genetic variation at the locus encompassing 11-beta hydroxylase and aldosterone synthase accounts for heritability in cortisol precursor (11-deoxycortisol) urinary metabolite excretion. Journal of Clinical Endocrinology and Metabolism, 90, pp. 1072-1077. (doi: 10.1210/jc.2004-0870)

This list was generated on Wed Dec 6 10:39:05 2023 GMT.