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Results: 14

1.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.

Schmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J, Plaza JM, van Beersum SE, Yap ZM, Letteboer SJ, Taylor SP, Herridge W, Johnson CA, Scambler PJ, Ueffing M, Kayserili H, Krakow D, King SM; UK10K, Beales PL, Al-Gazali L, Wicking C, Cormier-Daire V, Roepman R, Mitchison HM, Witman GB.

Nat Commun. 2015 Jun 5;6:7074. doi: 10.1038/ncomms8074.

2.

Circulating levels of antioxidant vitamins correlate with better lung function and reduced exposure to ambient pollution.

Menni C, Metrustry SJ, Mohney RP, Beevers S, Barratt B, Spector TD, Kelly FJ, Valdes AM.

Am J Respir Crit Care Med. 2015 May 15;191(10):1203-7. doi: 10.1164/rccm.201411-2059LE. No abstract available.

PMID:
25978575
3.

Whole-genome sequence-based analysis of thyroid function.

Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium.

Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Erratum in: Nat Commun. 2015;6:7172. Lotchkova, Valentina [corrected to Iotchkova, Valentina]; Quai, Michael A [corrected to Quail, Michael].

4.

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans.

Timpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin SY, Chen L, Futema M, Southam L, Iotchkova V, Cocca M, Huang J, Memari Y, McCarthy S, Danecek P, Muddyman D, Mangino M, Menni C, Perry JR, Ring SM, Gaye A, Dedoussis G, Farmaki AE, Burton P, Talmud PJ, Gambaro G, Spector TD, Smith GD, Durbin R, Richards JB, Humphries SE, Zeggini E, Soranzo N; UK1OK Consortium Members; UK1OK Consortium Members.

Nat Commun. 2014 Sep 16;5:4871. doi: 10.1038/ncomms5871. Erratum in: Nat Commun. 2015;6:7171.

5.

Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.

Ramos YF, Metrustry S, Arden N, Bay-Jensen AC, Beekman M, de Craen AJ, Cupples LA, Esko T, Evangelou E, Felson DT, Hart DJ, Ioannidis JP, Karsdal M, Kloppenburg M, Lafeber F, Metspalu A, Panoutsopoulou K, Slagboom PE, Spector TD, van Spil EW, Uitterlinden AG, Zhu Y; arcOGEN Consortium; TreatOA Collaborators, Valdes AM, van Meurs JB, Meulenbelt I.

J Med Genet. 2014 Sep;51(9):596-604. doi: 10.1136/jmedgenet-2014-102478. Epub 2014 Jul 23.

PMID:
25057126
6.

Variants close to NTRK2 gene are associated with birth weight in female twins.

Metrustry SJ, Edwards MH, Medland SE, Holloway JW, Montgomery GW, Martin NG, Spector TD, Cooper C, Valdes AM.

Twin Res Hum Genet. 2014 Aug;17(4):254-61. doi: 10.1017/thg.2014.34. Epub 2014 Jun 20.

PMID:
24950379
7.

Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.

Styrkarsdottir U, Thorleifsson G, Helgadottir HT, Bomer N, Metrustry S, Bierma-Zeinstra S, Strijbosch AM, Evangelou E, Hart D, Beekman M, Jonasdottir A, Sigurdsson A, Eiriksson FF, Thorsteinsdottir M, Frigge ML, Kong A, Gudjonsson SA, Magnusson OT, Masson G; TREAT-OA Consortium; arcOGEN Consortium, Hofman A, Arden NK, Ingvarsson T, Lohmander S, Kloppenburg M, Rivadeneira F, Nelissen RG, Spector T, Uitterlinden A, Slagboom PE, Thorsteinsdottir U, Jonsdottir I, Valdes AM, Meulenbelt I, van Meurs J, Jonsson H, Stefansson K.

Nat Genet. 2014 May;46(5):498-502. doi: 10.1038/ng.2957. Epub 2014 Apr 13.

PMID:
24728293
8.

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip.

Evangelou E, Kerkhof HJ, Styrkarsdottir U, Ntzani EE, Bos SD, Esko T, Evans DS, Metrustry S, Panoutsopoulou K, Ramos YF, Thorleifsson G, Tsilidis KK; arcOGEN Consortium, Arden N, Aslam N, Bellamy N, Birrell F, Blanco FJ, Carr A, Chapman K, Day-Williams AG, Deloukas P, Doherty M, Engström G, Helgadottir HT, Hofman A, Ingvarsson T, Jonsson H, Keis A, Keurentjes JC, Kloppenburg M, Lind PA, McCaskie A, Martin NG, Milani L, Montgomery GW, Nelissen RG, Nevitt MC, Nilsson PM, Ollier WE, Parimi N, Rai A, Ralston SH, Reed MR, Riancho JA, Rivadeneira F, Rodriguez-Fontenla C, Southam L, Thorsteinsdottir U, Tsezou A, Wallis GA, Wilkinson JM, Gonzalez A, Lane NE, Lohmander LS, Loughlin J, Metspalu A, Uitterlinden AG, Jonsdottir I, Stefansson K, Slagboom PE, Zeggini E, Meulenbelt I, Ioannidis JP, Spector TD, van Meurs JB, Valdes AM.

Ann Rheum Dis. 2014 Dec;73(12):2130-6. doi: 10.1136/annrheumdis-2012-203114. Epub 2013 Aug 29. Review.

9.

Prediction model for knee osteoarthritis incidence, including clinical, genetic and biochemical risk factors.

Kerkhof HJ, Bierma-Zeinstra SM, Arden NK, Metrustry S, Castano-Betancourt M, Hart DJ, Hofman A, Rivadeneira F, Oei EH, Spector TD, Uitterlinden AG, Janssens AC, Valdes AM, van Meurs JB.

Ann Rheum Dis. 2014 Dec;73(12):2116-21. doi: 10.1136/annrheumdis-2013-203620. Epub 2013 Aug 20.

PMID:
23962456
10.

The effect of FTO variation on increased osteoarthritis risk is mediated through body mass index: a Mendelian randomisation study.

Panoutsopoulou K, Metrustry S, Doherty SA, Laslett LL, Maciewicz RA, Hart DJ, Zhang W, Muir KR, Wheeler M, Cooper C, Spector TD, Cicuttini FM, Jones G, Arden NK, Doherty M, Zeggini E, Valdes AM; arcOGEN Consortium.

Ann Rheum Dis. 2014 Dec;73(12):2082-6. doi: 10.1136/annrheumdis-2013-203772. Epub 2013 Aug 6.

11.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

12.

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

arcOGEN Consortium; arcOGEN Collaborators, Zeggini E, Panoutsopoulou K, Southam L, Rayner NW, Day-Williams AG, Lopes MC, Boraska V, Esko T, Evangelou E, Hoffman A, Houwing-Duistermaat JJ, Ingvarsson T, Jonsdottir I, Jonnson H, Kerkhof HJ, Kloppenburg M, Bos SD, Mangino M, Metrustry S, Slagboom PE, Thorleifsson G, Raine EV, Ratnayake M, Ricketts M, Beazley C, Blackburn H, Bumpstead S, Elliott KS, Hunt SE, Potter SC, Shin SY, Yadav VK, Zhai G, Sherburn K, Dixon K, Arden E, Aslam N, Battley PK, Carluke I, Doherty S, Gordon A, Joseph J, Keen R, Koller NC, Mitchell S, O'Neill F, Paling E, Reed MR, Rivadeneira F, Swift D, Walker K, Watkins B, Wheeler M, Birrell F, Ioannidis JP, Meulenbelt I, Metspalu A, Rai A, Salter D, Stefansson K, Stykarsdottir U, Uitterlinden AG, van Meurs JB, Chapman K, Deloukas P, Ollier WE, Wallis GA, Arden N, Carr A, Doherty M, McCaskie A, Willkinson JM, Ralston SH, Valdes AM, Spector TD, Loughlin J.

Lancet. 2012 Sep 1;380(9844):815-23. doi: 10.1016/S0140-6736(12)60681-3. Epub 2012 Jul 3.

13.

Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.

Castaño Betancourt MC, Cailotto F, Kerkhof HJ, Cornelis FM, Doherty SA, Hart DJ, Hofman A, Luyten FP, Maciewicz RA, Mangino M, Metrustry S, Muir K, Peters MJ, Rivadeneira F, Wheeler M, Zhang W, Arden N, Spector TD, Uitterlinden AG, Doherty M, Lories RJ, Valdes AM, van Meurs JB.

Proc Natl Acad Sci U S A. 2012 May 22;109(21):8218-23. doi: 10.1073/pnas.1119899109. Epub 2012 May 7.

14.

Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations.

Valdes AM, Styrkarsdottir U, Doherty M, Morris DL, Mangino M, Tamm A, Doherty SA, Kisand K, Kerna I, Tamm A, Wheeler M, Maciewicz RA, Zhang W, Muir KR, Dennison EM, Hart DJ, Metrustry S, Jonsdottir I, Jonsson GF, Jonsson H, Ingvarsson T, Cooper C, Vyse TJ, Spector TD, Stefansson K, Arden NK.

PLoS One. 2011;6(8):e23371. doi: 10.1371/journal.pone.0023371. Epub 2011 Aug 10.

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