8684 results
Cited 98 times since 2012 (7.5 per year)
source: EuropePMC
Nature genetics,
Volume 44, Issue 5, 15 3 2012, Pages 532-538
Common variants at 12q15 and 12q24 are associated with infant head circumference.
Taal HR, Pourcain BS, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, Kaakinen M, Kreiner-Møller E, Bradfield JP, Freathy RM, Geller F, Guxens M, Cousminer DL, Kerkhof M, Timpson NJ, Ikram MA, Beilin LJ, Bønnelykke K, Buxton JL, Charoen P, Chawes BLK, Eriksson J, Evans DM, Hofman A, Kemp JP, Kim CE, Klopp N, Lahti J, Lye SJ, McMahon G, Mentch FD, Müller M, O'Reilly PF, Prokopenko I, Rivadeneira F, Steegers EAP, Sunyer J, Tiesler C, Yaghootkar H, Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) Consortium, Breteler MMB, Debette S, Fornage M, Gudnason V, Launer LJ, van der Lugt A, Mosley TH, Seshadri S, Smith AV, Vernooij MW, Early Genetics & Lifecourse Epidemiology (EAGLE) consortium, Blakemore AI, Chiavacci RM, Feenstra B, Fernandez-Benet J, Grant SFA, Hartikainen AL, van der Heijden AJ, Iñiguez C, Lathrop M, McArdle WL, Mølgaard A, Newnham JP, Palmer LJ, Palotie A, Palotie A, Pouta A, Ring SM, Sovio U, Standl M, Uitterlinden AG, Wichmann HE, Vissing NH, DeCarli C, van Duijn CM, McCar
To identify genetic variants associated with head circumference in infancy, we performed a meta-analysis of seven genome-wide association studies (GWAS) (N = 10,768 individuals of European ancestry enrolled in pregnancy and/or birth cohorts) and followed up three lead signals in six replication studies (combined N = 19,089). rs7980687 on chromosome 12q24 (P = 8.1 × 10(-9)) and rs1042725 on chromosome 12q15 (P = 2.8 × 10(-10)) were robustly associated with head circumference in infancy. Although...
Abstract
Cited 867 times since 2012 (65.9 per year)
source: EuropePMC
Nature genetics,
Volume 44, Issue 5, 15 3 2012, Pages 491-501
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, Aragaki AK, Aspelund T, Center JR, Dailiana Z, Duggan DJ, Garcia M, Garcia-Giralt N, Giroux S, Hallmans G, Hocking LJ, Husted LB, Jameson KA, Khusainova R, Kim GS, Kooperberg C, Koromila T, Kruk M, Laaksonen M, Lacroix AZ, Lee SH, Leung PC, Lewis JR, Masi L, Mencej-Bedrac S, Nguyen TV, Nogues X, Nogues X, Patel MS, Prezelj J, Rose LM, Scollen S, Siggeirsdottir K, Smith AV, Svensson O, Trompet S, Trummer O, van Schoor NM, Woo J, Zhu K, Balcells S, Brandi ML, Buckley BM, Cheng S, Christiansen C, Cooper C, Dedoussis G, Ford I, Frost M, Goltzman D, González-Macías J, Kähönen M, Karlsson M, Khusnutdinova E, Koh JM, Kollia P, Langdahl BL, Leslie WD, Lips P, Ljunggren Ö, Lorenc RS, Marc J, M
Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identifi...
Abstract
Cited 7 times since 2012 (0.5 per year)
source: EuropePMC
Antonie van Leeuwenhoek,
Volume 102, Issue 2, 10 2 2012, Pages 401-406
In vivo analysis of Saccharomyces cerevisiae plasma membrane ATPase Pma1p isoforms with increased in vitro H+/ATP stoichiometry.
de Kok S, Yilmaz D, Daran JM, Pronk JT, van Maris AJ
Plasma membrane H(+)-ATPase isoforms with increased H(+)/ATP ratios represent a desirable asset in yeast metabolic engineering. In vivo proton coupling of two previously reported Pma1p isoforms (Ser800Ala, Glu803Gln) with increased in vitro H(+)/ATP stoichiometries was analysed by measuring biomass yields of anaerobic maltose-limited chemostat cultures expressing only the different PMA1 alleles. In vivo H(+)/ATP stoichiometries of wildtype Pma1p and the two isoforms did not differ significantly.
Abstract
Cited 18 times since 2012 (1.4 per year)
source: EuropePMC
Injury,
Volume 43, Issue 7, 6 1 2012, Pages 1107-1111
Below-elbow cast for metaphyseal both-bone fractures of the distal forearm in children: a randomised multicentre study.
Colaris JW, Biter LU, Allema JH, Bloem RM, van de Ven CP, de Vries MR, Kerver AJ, Reijman M, Verhaar JA
Introduction: Minimally displaced metaphyseal both-bone fractures of the distal forearm in children are often treated with an above-elbow cast (AEC). Treatment with a below-elbow cast (BEC) could give more comfort, but might lead to fracture displacement reducing pronation and supination. Because this has not been systematically investigated, we set up a randomised multicentre study. The purpose of this study was to find out whether BEC causes equal limitation of pronation and supination but wit...
Abstract
Cited 34 times since 2012 (2.6 per year)
source: EuropePMC
Clinical infectious diseases : an official publication of the Infectious Diseases Society of America,
Volume 54, Issue 11, 4 1 2012, Pages 1618-1620
Successful Veterans Affairs initiative to prevent methicillin-resistant Staphylococcus aureus infections revisited.
Gurieva T, Bootsma MC, Bonten MJ
In 2011 Jain et al reported a 62% reduction of healthcare-associated methicillin-resistant Staphylococcus aureus infections that resulted from an intervention bundle. Here we present a mathematical model and prove, using parameters from the study by Jain et al, that the universal screen and isolate strategy can have contributed only marginally to the reduction in infections.
Abstract
Cited 8 times since 2012 (0.6 per year)
source: EuropePMC
The Netherlands journal of medicine,
Volume 70, Issue 3, 1 1 2012, Pages 155
Valproic acid-induced DRESS syndrome with acute liver failure.
van Zoelen MA, de Graaf M, van Dijk MR, Bogte A, van Erpecum KJ, Rockmann H, Maarschalk-Ellerbroek LJ
Abstract
Cited 16 times since 2012 (1.2 per year)
source: EuropePMC
EuroIntervention : journal of EuroPCR in collaboration with the Working Group on Interventional Cardiology of the European Society of Cardiology,
Volume 7, Issue 12, 1 1 2012, Pages 1396-1405
Pre-infarction angina predicts thrombus burden in patients admitted for ST-segment elevation myocardial infarction.
Ahmed TA, Sorgdrager BJ, Cannegieter SC, van der Laarse A, Schalij MJ, Jukema W
Aims: In patients with ST-elevation myocardial infarction (STEMI), high thrombotic burden, subsequent distal embolisation and myocardial no-reflow remain a large obstacle that may negate the benefits of urgent coronary revascularisation. We aimed at assessing the predictors of: 1) thrombus grade in patients undergoing primary percutaneous coronary intervention (PPCI) and 2) infarct size, in order to optimise therapy to reduce thrombus burden. Methods and results: One-hundred and fifty-three cons...
Abstract
Cited 24 times since 2012 (1.8 per year)
source: EuropePMC
Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation,
Volume 20, Issue 4, 1 1 2012, Pages 167-175
Treatment options in end-stage heart failure: where to go from here?
Haeck ML, Hoogslag GE, Rodrigo SF, Atsma DE, Klautz RJ, van der Wall EE, Schalij MJ, Verwey HF
Chronic heart failure is a major healthcare problem associated with high morbidity and mortality. Despite significant progress in treatment strategies, the prognosis of heart failure patients remains poor. The golden standard treatment for heart failure is heart transplantation after failure of medical therapy, surgery and/or cardiac resynchronisation therapy. In order to improve patients' outcome and quality of life, new emerging treatment modalities are currently being investigated, inclu...
Abstract
Cited 18 times since 2012 (1.4 per year)
source: EuropePMC
Circulation. Arrhythmia and electrophysiology,
Volume 5, Issue 2, 1 1 2012, Pages e38-40
Bipolar ablation of ventricular tachycardia in a patient after atrial switch operation for dextro-transposition of the great arteries.
Piers SR, Dyrda K, Tao Q, Zeppenfeld K
Abstract
Cited 96 times since 2012 (7.3 per year)
source: EuropePMC
Cold Spring Harbor perspectives in biology,
Volume 4, Issue 4, 1 1 2012, Pages a007989
Wnt signaling, stem cells, and cancer of the gastrointestinal tract.
Schepers A, Clevers H
The Wnt signaling pathway was originally uncovered as one of the prototype developmental signaling cascades in invertebrates as well as in vertebrates. The first indication that Wnt signaling also plays a role in the adult animal came from the study of the intestine of Tcf-4 (Tcf7L2) knockout mice. The gastrointestinal epithelium continuously self-renews over the lifetime of an organism and is, in fact, the most rapidly self-renewing tissue of the mammalian body. Recent studies indicate that Wnt...
Abstract
Cited 41 times since 2012 (3.1 per year)
source: EuropePMC
PloS one,
Volume 7, Issue 3, 30 5 2012, Pages e32963
Inflammation aggravates disease severity in Marfan syndrome patients.
Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, Hilhorst-Hofstee Y, van den Berg MP, van Tintelen JP, Pals G, Baars MJ, Mulder BJ, Zwinderman AH
Background: Marfan syndrome (MFS) is a pleiotropic genetic disorder with major features in cardiovascular, ocular and skeletal systems, associated with large clinical variability. Numerous studies reveal an involvement of TGF-β signaling. However, the contribution of tissue inflammation is not addressed so far. Methodology/principal findings: Here we showed that both TGF-β and inflammation are up-regulated in patients with MFS. We analyzed transcriptome-wide gene expression in 55 MFS patients us...
Abstract
Cited 153 times since 2012 (11.6 per year)
source: EuropePMC
PLoS genetics,
Volume 8, Issue 3, 29 5 2012, Pages e1002584
Genome-wide association and functional follow-up reveals new loci for kidney function.
Pattaro C, Köttgen A, Teumer A, Garnaas M, Böger CA, Fuchsberger C, Olden M, Chen MH, Tin A, Taliun D, Li M, Gao X, Gorski M, Yang Q, Hundertmark C, Foster MC, O'Seaghdha CM, Glazer N, Isaacs A, Liu CT, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Johnson AD, Gierman HJ, Feitosa M, Hwang SJ, Atkinson EJ, Lohman K, Cornelis MC, Johansson Å, Tönjes A, Dehghan A, Chouraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimäki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, CARDIoGRAM Consortium, ICBP Consortium, CARe Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Cavalieri M, Rao M, Hu FB, Demirkan A, Oostra BA, de Andrade M, Turner ST, Ding J, Andrews JS, Freedman BI, Koenig W, Illig T, Döring A, Wichmann HE, Kolcic I, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Nöthlings U, Jacobs G, Biffar R, Endlic
Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte...
Abstract
Cited 28 times since 2012 (2.1 per year)
source: EuropePMC
The Journal of infectious diseases,
Volume 205, Issue 10, 28 4 2012, Pages 1539-1543
Latent acyclovir-resistant herpes simplex virus type 1 in trigeminal ganglia of immunocompetent individuals.
van Velzen M, van Loenen FB, Meesters RJ, de Graaf M, Remeijer L, Luider TM, Osterhaus AD, Verjans GM
Specific mutations within the hypervariable herpes simplex virus (HSV) gene thymidine kinase (TK) gene lead to acyclovir (ACV) resistance. To uncover the existence of latent ACV-resistant (ACV(R)) HSV-1, we determined the genetic and functional variability of the HSV-1 TK gene pool in paired trigeminal ganglia (TG) of 5 immunocompetent individuals. The latent virus pool consisted of a donor-specific HSV-1 quasispecies, including one major ACV-sensitive (ACV(S)) and multiple phylogenetic-related...
Abstract
Cited 11 times since 2012 (0.8 per year)
source: EuropePMC
Journal of internal medicine,
Volume 271, Issue 6, 26 4 2012, Pages 521-536
Management of acute coronary syndrome: achievements and goals still to pursue. Novel developments in diagnosis and treatment.
Boden H, van der Hoeven BL, Karalis I, Schalij MJ, Jukema JW
Acute coronary syndromes contribute a substantial part of the global disease burden. To realize a reduction in mortality and morbidity, the management of patients with these conditions involves the integration of several different approaches. Timely delivery of appropriate care is a key factor, as the beneficial effect of reperfusion is greatest when performed as soon as possible. Innovations in antithrombotic therapy have also contributed significantly to improvements in the prevention of ischa...
Abstract
Cited 83 times since 2012 (6.3 per year)
source: EuropePMC
The American journal of cardiology,
Volume 109, Issue 11, 23 4 2012, Pages 1657-1663
Social burden and lifestyle in adults with congenital heart disease.
Zomer AC, Vaartjes I, Uiterwaal CS, van der Velde ET, Sieswerda GJ, Wajon EM, Plomp K, van Bergen PF, Verheugt CL, Krivka E, de Vries CJ, Lok DJ, Grobbee DE, Mulder BJ
We aimed to evaluate how the presence and severity of congenital heart disease (CHD) influence social life and lifestyle in adult patients. A random sample (n = 1,496) from the CONgenital CORvitia (n = 11,047), the Dutch national registry of adult patients with CHD, completed a questionnaire on educational attainment, employment and marital statuses, and lifestyle (response 76%). The Utrecht Health Project provided a large reference group (n = 6,810) of unaffected subjects. Logistic regression m...
Abstract
Cited 1 times since 2012 (0.1 per year)
source: EuropePMC
Early human development,
Volume 88, Issue 9, 22 4 2012, Pages 711-716
Genetic variants associated with adult blood pressure and kidney function do not affect fetal kidney volume. The Generation R Study.
Taal HR, van den Hil LC, Hofman A, van der Heijden AJ, Jaddoe VW
Background: Smaller kidneys with reduced number of nephrons in early life lead to impaired kidney function and risk for hypertension and chronic kidney disease. These associations might be partly explained by common genetic variation. Aims: To assess the associations between common genetic variants, which have recently shown to be associated with blood pressure or kidney function, with fetal kidney volume. Study design: A prospective population based cohort study in Rotterdam, The Netherlands. S...
Abstract
Cited 9 times since 2012 (0.7 per year)
source: EuropePMC
The American journal of cardiology,
Volume 109, Issue 12, 22 4 2012, Pages 1792-1796
Relation of prolonged tissue Doppler imaging-derived atrial conduction time to atrial arrhythmia in adult patients with congenital heart disease.
van der Hulst AE, Roest AA, Holman ER, Vliegen HW, Hazekamp MG, Bax JJ, Blom NA, Delgado V
Atrial arrhythmia (AA) is common in adult patients with congenital heart disease (CHD). To enable the prevention of AA or its complications, timely identification of adult patients with CHD at risk of AA is crucial. Long total atrial activation times have been related to AA. Tissue Doppler imaging (TDI) permits noninvasive evaluation of the total atrial conduction time (PA-TDI duration). The present study evaluated the association between the PA-TDI duration and the development of AA in adult pa...
Abstract
Cited 3 times since 2012 (0.2 per year)
source: EuropePMC
The American journal of cardiology,
Volume 109, Issue 12, 20 3 2012, Pages 1738-1742
Comparison of lipid profiles and attainment of lipid goals in patients <65 years versus patients ≥65 years (from the Lipid Treatment Assessment Project [L-TAP] 2).
Rodriguez F, Santos RD, Messig M, Tarasenko L, Ferrières J, Jukema JW, Chiang CW, Waters DD, Foody JM, L-TAP 2 Investigators
There is a well-established link between dyslipidemia and cardiovascular events, although this risk is modified by age. Little is known about how treatment of dyslipidemia and low-density lipoprotein (LDL) cholesterol goal attainment differ between older and younger patients. We obtained clinical data from 9,926 dyslipidemic patients across 9 countries in North and Latin America, Europe, and Asia from 2006 through 2007. Multivariate regressions were performed to determine predictors of lipid lev...
Abstract
Cited 729 times since 2012 (55.1 per year)
source: EuropePMC
Lancet (London, England),
Volume 379, Issue 9822, 14 2 2012, Pages 1214-1224
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium, Swerdlow DI, Holmes MV, Kuchenbaecker KB, Engmann JE, Shah T, Sofat R, Sofat R, Guo Y, Chung C, Peasey A, Pfister R, Mooijaart SP, Ireland HA, Leusink M, Langenberg C, Li KW, Palmen J, Howard P, Cooper JA, Drenos F, Hardy J, Nalls MA, Li YR, Lowe G, Stewart M, Bielinski SJ, Peto J, Timpson NJ, Gallacher J, Dunlop M, Houlston R, Tomlinson I, Tzoulaki I, Luan J, Boer JM, Forouhi NG, Onland-Moret NC, van der Schouw YT, Schnabel RB, Hubacek JA, Kubinova R, Baceviciene M, Tamosiunas A, Pajak A, Topor-Madry R, Malyutina S, Baldassarre D, Sennblad B, Tremoli E, de Faire U, Ferrucci L, Bandenelli S, Tanaka T, Meschia JF, Singleton A, Navis G, Mateo Leach I, Bakker SJ, Gansevoort RT, Ford I, Epstein SE, Burnett MS, Devaney JM, Jukema JW, Westendorp RG, Jan de Borst G, van der Graaf Y, de Jong PA, Mailand-van der Zee AH, Klungel OH, de Boer A, Doevendans PA, Stephens JW, Eaton CB, Robinson JG, Manson JE, Fowkes FG, Frayling TM, Price JF, Whin
Background: A high circulating concentration of interleukin 6 is associated with increased risk of coronary heart disease. Blockade of the interleukin-6 receptor (IL6R) with a monoclonal antibody (tocilizumab) licensed for treatment of rheumatoid arthritis reduces systemic and articular inflammation. However, whether IL6R blockade also reduces risk of coronary heart disease is unknown. Methods: Applying the mendelian randomisation principle, we used single nucleotide polymorphisms (SNPs) in the...
Abstract
Cited 17 times since 2012 (1.3 per year)
source: EuropePMC
European journal of cardiovascular nursing,
Volume 11, Issue 3, 13 2 2012, Pages 349-355
Patients with a congenital heart defect and type D personality feel functionally more impaired, report a poorer health status and quality of life, but use less healthcare.
Schoormans D, Mulder BJ, van Melle JP, Pieper EG, van Dijk AP, Sieswerda GJ, Hulsbergen-Zwarts MS, Plokker TH, Brunninkhuis LG, Vliegen HW, Sprangers MA
Background: Type D personality, characterized by high levels of negative affectivity and social inhibition, is related to mortality, morbidity, poor health status, quality of life (QoL) and less healthcare utilization in various cardiovascular patient groups. To date, studies in patients with congenital heart disease (CHD) are lacking. Aims: (1) To examine the prevalence of type D personality in CHD patients; (2) to compare type D to non-type D patients with regard to disease severity, functiona...
Abstract
