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Progress and perspectives in plant sterol and plant stanol research.

Jones PJH, Shamloo M, MacKay DS, Rideout TC, Myrie SB, Plat J, Roullet JB, Baer DJ, Calkins KL, Davis HR, Barton Duell P, Ginsberg H, Gylling H, Jenkins D, Lütjohann D, Moghadasian M, Moreau RA, Mymin D, Ostlund RE Jr, Ras RT, Ochoa Reparaz J, Trautwein EA, Turley S, Vanmierlo T, Weingärtner O.

Nutr Rev. 2018 Oct 1;76(10):725-746. doi: 10.1093/nutrit/nuy032.


Phenotypic Trait Identification Using a Multimodel Bayesian Method: A Case Study Using Photosynthesis in Brassica rapa Genotypes.

Pleban JR, Mackay DS, Aston TL, Ewers BE, Weinig C.

Front Plant Sci. 2018 Apr 17;9:448. doi: 10.3389/fpls.2018.00448. eCollection 2018.


Response to "The importance of study design in the assessment of nonnutritive sweeteners and cardiometabolic health".

Azad MB, MacKay DS, Zarychanski R.

CMAJ. 2017 Nov 20;189(46):E1426. doi: 10.1503/cmaj.733441. No abstract available.


Nonnutritive sweeteners and cardiometabolic health: a systematic review and meta-analysis of randomized controlled trials and prospective cohort studies.

Azad MB, Abou-Setta AM, Chauhan BF, Rabbani R, Lys J, Copstein L, Mann A, Jeyaraman MM, Reid AE, Fiander M, MacKay DS, McGavock J, Wicklow B, Zarychanski R.

CMAJ. 2017 Jul 17;189(28):E929-E939. doi: 10.1503/cmaj.161390. Review.


Best practices for design and implementation of human clinical trials studying dietary oils.

Mackay DS, Jew S, Jones PJ.

Prog Lipid Res. 2017 Jan;65:1-11. doi: 10.1016/j.plipres.2016.10.003. Epub 2016 Oct 26. Review.


Predicting stomatal responses to the environment from the optimization of photosynthetic gain and hydraulic cost.

Sperry JS, Venturas MD, Anderegg WRL, Mencuccini M, Mackay DS, Wang Y, Love DM.

Plant Cell Environ. 2017 Jun;40(6):816-830. doi: 10.1111/pce.12852. Epub 2016 Dec 21.


Plant hydraulics improves and topography mediates prediction of aspen mortality in southwestern USA.

Tai X, Mackay DS, Anderegg WR, Sperry JS, Brooks PD.

New Phytol. 2017 Jan;213(1):113-127. doi: 10.1111/nph.14098. Epub 2016 Jul 19.


Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

Hull S, Malik AN, Arno G, Mackay DS, Plagnol V, Michaelides M, Mansour S, Albanese A, Brown KT, Holder GE, Webster AR, Heath PT, Moore AT.

JAMA Ophthalmol. 2016 Sep 1;134(9):1049-53. doi: 10.1001/jamaophthalmol.2015.5833.


Pragmatic hydraulic theory predicts stomatal responses to climatic water deficits.

Sperry JS, Wang Y, Wolfe BT, Mackay DS, Anderegg WR, McDowell NG, Pockman WT.

New Phytol. 2016 Nov;212(3):577-589. doi: 10.1111/nph.14059. Epub 2016 Jun 22.


Early Exposure to Nonnutritive Sweeteners and Long-term Metabolic Health: A Systematic Review.

Reid AE, Chauhan BF, Rabbani R, Lys J, Copstein L, Mann A, Abou-Setta AM, Fiander M, MacKay DS, McGavock J, Wicklow B, Zarychanski R, Azad MB.

Pediatrics. 2016 Mar;137(3):e20153603. doi: 10.1542/peds.2015-3603. Epub 2016 Feb 25. Review.


CYP7A1-rs3808607 and APOE isoform associate with LDL cholesterol lowering after plant sterol consumption in a randomized clinical trial.

MacKay DS, Eck PK, Gebauer SK, Baer DJ, Jones PJ.

Am J Clin Nutr. 2015 Oct;102(4):951-7. doi: 10.3945/ajcn.115.109231. Epub 2015 Sep 2.


Cholesterol ester transfer protein polymorphism rs5882 is associated with triglyceride-lowering in response to plant sterol consumption.

Mackay DS, Eck PK, Rideout TC, Baer DJ, Jones PJ.

Appl Physiol Nutr Metab. 2015 Aug;40(8):846-9. doi: 10.1139/apnm-2015-0039.


Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.

Mackay DS, Bennett TM, Shiels A.

PLoS One. 2015 Jul 10;10(7):e0132529. doi: 10.1371/journal.pone.0132529. eCollection 2015.


Author reply: To PMID 24480711.

Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2015 Apr;122(4):e22. doi: 10.1016/j.ophtha.2014.08.041. No abstract available.


Lathosterol-to-cholesterol ratio in serum predicts cholesterol-lowering response to plant sterol consumption in a dual-center, randomized, single-blind placebo-controlled trial.

Mackay DS, Gebauer SK, Eck PK, Baer DJ, Jones PJ.

Am J Clin Nutr. 2015 Mar;101(3):432-9. doi: 10.3945/ajcn.114.095356. Epub 2015 Jan 14.


High-oleic canola oil consumption enriches LDL particle cholesteryl oleate content and reduces LDL proteoglycan binding in humans.

Jones PJ, MacKay DS, Senanayake VK, Pu S, Jenkins DJ, Connelly PW, Lamarche B, Couture P, Kris-Etherton PM, West SG, Liu X, Fleming JA, Hantgan RR, Rudel LL.

Atherosclerosis. 2015 Feb;238(2):231-8. doi: 10.1016/j.atherosclerosis.2014.12.010. Epub 2014 Dec 9.


Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.

Mackay DS, Bennett TM, Culican SM, Shiels A.

Hum Genomics. 2014 Nov 18;8:19. doi: 10.1186/s40246-014-0019-6.


Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma.

Bennett TM, Mackay DS, Siegfried CJ, Shiels A.

PLoS One. 2014 Aug 4;9(8):e104000. doi: 10.1371/journal.pone.0104000. eCollection 2014.


Methodological considerations for the harmonization of non-cholesterol sterol bio-analysis.

Mackay DS, Jones PJ, Myrie SB, Plat J, Lütjohann D.

J Chromatogr B Analyt Technol Biomed Life Sci. 2014 Apr 15;957:116-22. doi: 10.1016/j.jchromb.2014.02.052. Epub 2014 Mar 12. Review.


Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2014 Jun;121(6):1174-84. doi: 10.1016/j.ophtha.2013.11.042. Epub 2014 Jan 28.


A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.

Borman AD, Pearce LR, Mackay DS, Nagel-Wolfrum K, Davidson AE, Henderson R, Garg S, Waseem NH, Webster AR, Plagnol V, Wolfrum U, Farooqi IS, Moore AT.

Hum Mutat. 2014 Mar;35(3):289-93. doi: 10.1002/humu.22482. Epub 2013 Dec 20.


Evaluating theories of drought-induced vegetation mortality using a multimodel-experiment framework.

McDowell NG, Fisher RA, Xu C, Domec JC, Hölttä T, Mackay DS, Sperry JS, Boutz A, Dickman L, Gehres N, Limousin JM, Macalady A, Martínez-Vilalta J, Mencuccini M, Plaut JA, Ogée J, Pangle RE, Rasse DP, Ryan MG, Sevanto S, Waring RH, Williams AP, Yepez EA, Pockman WT.

New Phytol. 2013 Oct;200(2):304-21. doi: 10.1111/nph.12465. Epub 2013 Sep 5. Review.


Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Qamar R, Webster AR, Cremers FPM, Moore AT, Koenekoop RK; [LCA5 Study Group (see acknowledgements for Universities), Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CCW, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B.

Hum Mutat. 2013 Nov;34(11):1537-1546. doi: 10.1002/humu.22398. Epub 2013 Sep 17. Erratum in: Hum Mutat. 2014 Jan;35(1):149. Ramsear, Raj [corrected to Ramesar, Raj].


The clinical effect of homozygous ABCA4 alleles in 18 patients.

Fujinami K, Sergouniotis PI, Davidson AE, Mackay DS, Tsunoda K, Tsubota K, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR.

Ophthalmology. 2013 Nov;120(11):2324-31. doi: 10.1016/j.ophtha.2013.04.016. Epub 2013 Jun 12.


A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.

Fujinami K, Lois N, Davidson AE, Mackay DS, Hogg CR, Stone EM, Tsunoda K, Tsubota K, Bunce C, Robson AG, Moore AT, Webster AR, Holder GE, Michaelides M.

Am J Ophthalmol. 2013 Jun;155(6):1075-1088.e13. doi: 10.1016/j.ajo.2013.01.018. Epub 2013 Mar 15.


A novel α-synuclein missense mutation in Parkinson disease.

Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH.

Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.


RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.

Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17.


NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA.

Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29.


Limitations of lathosterol to plant sterol ratios and serum plant sterols as surrogate markers for cholesterol absorption during plant sterol supplementation.

MacKay DS, Jones P.

Nutr Metab Cardiovasc Dis. 2012 Sep;22(9):e21. doi: 10.1016/j.numecd.2011.11.007. Epub 2012 Jul 13. No abstract available.


Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT.

Invest Ophthalmol Vis Sci. 2012 Jun 22;53(7):3927-38. doi: 10.1167/iovs.12-9548.


Plasma noncholesterol sterols: current uses, potential and need for standardization.

Mackay DS, Jones PJ.

Curr Opin Lipidol. 2012 Jun;23(3):241-7. doi: 10.1097/MOL.0b013e328353292e. Review.


Metabolic and genetic factors modulating subject specific LDL-C responses to plant sterol therapy.

Rideout TC, Harding SV, Mackay DS.

Can J Physiol Pharmacol. 2012 May;90(5):509-14. doi: 10.1139/y2012-060. Epub 2012 Apr 17. Review.


Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

Tan MH, Mackay DS, Cowing J, Tran HV, Smith AJ, Wright GA, Dev-Borman A, Henderson RH, Moradi P, Russell-Eggitt I, MacLaren RE, Robson AG, Cheetham ME, Thompson DA, Webster AR, Michaelides M, Ali RR, Moore AT.

PLoS One. 2012;7(3):e32330. doi: 10.1371/journal.pone.0032330. Epub 2012 Mar 6.


Glucose tolerance is affected by visceral adiposity and sex, but not birth weight, in Yucatan miniature pigs.

McKnight LL, Myrie SB, Mackay DS, Brunton JA, Bertolo RF.

Appl Physiol Nutr Metab. 2012 Feb;37(1):106-14. doi: 10.1139/h11-142. Epub 2012 Jan 11.


Early programming of adult blood pressure in the low birth weight Yucatan miniature pig is exacerbated by a post-weaning high-salt-fat-sugar diet.

Myrie SB, MacKay DS, Van Vliet BN, Bertolo RF.

Br J Nutr. 2012 Oct;108(7):1218-25. Epub 2011 Dec 16.


Intrauterine growth restriction leads to changes in sulfur amino acid metabolism, but not global DNA methylation, in Yucatan miniature piglets.

MacKay DS, Brophy JD, McBreairty LE, McGowan RA, Bertolo RF.

J Nutr Biochem. 2012 Sep;23(9):1121-7. doi: 10.1016/j.jnutbio.2011.06.005. Epub 2011 Dec 1.


Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR.

Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1.


RDH12 retinopathy: novel mutations and phenotypic description.

Mackay DS, Dev Borman A, Moradi P, Henderson RH, Li Z, Wright GA, Waseem N, Gandra M, Thompson DA, Bhattacharya SS, Holder GE, Webster AR, Moore AT.

Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.


Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR.

Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002.


Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2).

Mackay DS, Halford S.

Exp Eye Res. 2012 Sep;102:111-2. doi: 10.1016/j.exer.2011.06.019. Epub 2011 Jul 2. No abstract available.


Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT.

Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025.


Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT.

Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17.


A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR.

Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043.


Online learning to improve hand hygiene knowledge and compliance among health care workers.

Alemagno SA, Guten SM, Warthman S, Young E, Mackay DS.

J Contin Educ Nurs. 2010 Oct;41(10):463-71. doi: 10.3928/00220124-20100610-06. Epub 2010 Jun 8.


Focus on molecules: centrosomal protein 290 (CEP290).

Moradi P, Davies WL, Mackay DS, Cheetham ME, Moore AT.

Exp Eye Res. 2011 May;92(5):316-7. doi: 10.1016/j.exer.2010.05.009. Epub 2010 May 20. No abstract available.


Identification of environmental covariates of West Nile virus vector mosquito population abundance.

Trawinski PR, Mackay DS.

Vector Borne Zoonotic Dis. 2010 Jun;10(5):515-26. doi: 10.1089/vbz.2008.0063.


A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR.

Mol Vis. 2010 Mar 26;16:540-8.


Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT.

Mol Vis. 2010 Mar 9;16:369-77.


Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR.

Mol Vis. 2010 Jan 15;16:46-52.


Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR.

Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.

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