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Page 1
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Verkerk AJMH, Andrei D, Vermeer MCSC, Kramer D, Schouten M, Arp P, Verlouw JAM, Pas HH, Meijer HJ, van der Molen M, Oberdorf-Maass S, Nijenhuis M, Romero-Herrera PH, Hoes MF, Bremer J, Slotman JA, van den Akker PC, Diercks GFH, Giepmans BNG, Stoop H, Saris JJ, van den Ouweland AMW, Willemsen R, Hublin JJ, Dean MC, Hoogeboom AJM, Silljé HHW, Uitterlinden AG, van der Meer P, Bolling MC. Verkerk AJMH, et al. Among authors: uitterlinden ag. J Invest Dermatol. 2024 Feb;144(2):284-295.e16. doi: 10.1016/j.jid.2023.02.044. Epub 2023 Sep 15. J Invest Dermatol. 2024. PMID: 37716648 Free article.
Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.
Karlsson Linnér R, Biroli P, Kong E, Meddens SFW, Wedow R, Fontana MA, Lebreton M, Tino SP, Abdellaoui A, Hammerschlag AR, Nivard MG, Okbay A, Rietveld CA, Timshel PN, Trzaskowski M, Vlaming R, Zünd CL, Bao Y, Buzdugan L, Caplin AH, Chen CY, Eibich P, Fontanillas P, Gonzalez JR, Joshi PK, Karhunen V, Kleinman A, Levin RZ, Lill CM, Meddens GA, Muntané G, Sanchez-Roige S, Rooij FJV, Taskesen E, Wu Y, Zhang F; 23and Me Research Team; eQTLgen Consortium; International Cannabis Consortium; Social Science Genetic Association Consortium; Auton A, Boardman JD, Clark DW, Conlin A, Dolan CC, Fischbacher U, Groenen PJF, Harris KM, Hasler G, Hofman A, Ikram MA, Jain S, Karlsson R, Kessler RC, Kooyman M, MacKillop J, Männikkö M, Morcillo-Suarez C, McQueen MB, Schmidt KM, Smart MC, Sutter M, Thurik AR, Uitterlinden AG, White J, Wit H, Yang J, Bertram L, Boomsma DI, Esko T, Fehr E, Hinds DA, Johannesson M, Kumari M, Laibson D, Magnusson PKE, Meyer MN, Navarro A, Palmer AA, Pers TH, Posthuma D, Schunk D, Stein MB, Svento R, Tiemeier H, Timmers PRHJ, Turley P, Ursano RJ, Wagner GG, Wilson JF, Gratten J, Lee JJ, Cesarini D, Benjamin DJ, Koellinger PD, Beauchamp JP. Karlsson Linnér R, et al. Among authors: uitterlinden ag. Nat Genet. 2019 Feb;51(2):245-257. doi: 10.1038/s41588-018-0309-3. Epub 2019 Jan 14. Nat Genet. 2019. PMID: 30643258 Free PMC article.
Inter-individual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivors - a genome-wide association study: results from PanCareLIFE.
van der Perk MEM, Broer L, Yasui Y, Laven JSE, Robison LL, Tissing WJE, Versluys B, Bresters D, Kaspers GJL, Lambalk CB, Overbeek A, Loonen JJ, Beerendonk CCM, Byrne J, Berger C, Clemens E, van Dulmen-den Broeder E, Dirksen U, van der Pal HJ, de Vries ACH, Winther JF, Ranft A, Fosså SD, Grabow D, Muraca M, Kaiser M, Kepák T, Kruseova J, Modan-Moses D, Spix C, Zolk O, Kaatsch P, Kremer LCM, Brooke RJ, Wang F, Baedke JL, Uitterlinden AG, Bos AME, van Leeuwen FE, Ness KK, Hudson MM, van der Kooi ALF, van den Heuvel-Eibrink MM; PanCareLIFE consortium. van der Perk MEM, et al. Among authors: uitterlinden ag. Fertil Steril. 2024 May 8:S0015-0282(24)00312-1. doi: 10.1016/j.fertnstert.2024.05.002. Online ahead of print. Fertil Steril. 2024. PMID: 38729340 Free article.
Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.
Burns K, Mullin BH, Moolhuijsen LME, Laisk T, Tyrmi JS, Cui J, Actkins KV, Louwers YV; Estonian Biobank Research Team; Davis LK, Dudbridge F, Azziz R, Goodarzi MO, Laivuori H, Mägi R, Visser JA, Laven JSE, Wilson SG; FinnGen; International PCOS Consortium; Day FR, Stuckey BGA. Burns K, et al. BMC Genomics. 2024 Feb 26;25(1):208. doi: 10.1186/s12864-024-09990-w. BMC Genomics. 2024. PMID: 38408933 Free PMC article.
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications.
Sterenborg RBTM, Steinbrenner I, Li Y, Bujnis MN, Naito T, Marouli E, Galesloot TE, Babajide O, Andreasen L, Astrup A, Åsvold BO, Bandinelli S, Beekman M, Beilby JP, Bork-Jensen J, Boutin T, Brody JA, Brown SJ, Brumpton B, Campbell PJ, Cappola AR, Ceresini G, Chaker L, Chasman DI, Concas MP, Coutinho de Almeida R, Cross SM, Cucca F, Deary IJ, Kjaergaard AD, Echouffo Tcheugui JB, Ellervik C, Eriksson JG, Ferrucci L, Freudenberg J; GHS DiscovEHR; Regeneron Genetics Center; Fuchsberger C, Gieger C, Giulianini F, Gögele M, Graham SE, Grarup N, Gunjača I, Hansen T, Harding BN, Harris SE, Haunsø S, Hayward C, Hui J, Ittermann T, Jukema JW, Kajantie E, Kanters JK, Kårhus LL, Kiemeney LALM, Kloppenburg M, Kühnel B, Lahti J, Langenberg C, Lapauw B, Leese G, Li S, Liewald DCM, Linneberg A, Lominchar JVT, Luan J, Martin NG, Matana A, Meima ME, Meitinger T, Meulenbelt I, Mitchell BD, Møllehave LT, Mora S, Naitza S, Nauck M, Netea-Maier RT, Noordam R, Nursyifa C, Okada Y, Onano S, Papadopoulou A, Palmer CNA, Pattaro C, Pedersen O, Peters A, Pietzner M, Polašek O, Pramstaller PP, Psaty BM, Punda A, Ray D, Redmond P, Richards JB, Ridker PM, Russ TC, Ryan KA, Olesen MS, Schultheiss UT, Selvin E, … See abstract for full author list ➔ Sterenborg RBTM, et al. Among authors: uitterlinden ag. Nat Commun. 2024 Jan 30;15(1):888. doi: 10.1038/s41467-024-44701-9. Nat Commun. 2024. PMID: 38291025 Free PMC article.
Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci.
de Las Fuentes L, Schwander KL, Brown MR, Bentley AR, Winkler TW, Sung YJ, Munroe PB, Miller CL, Aschard H, Aslibekyan S, Bartz TM, Bielak LF, Chai JF, Cheng CY, Dorajoo R, Feitosa MF, Guo X, Hartwig FP, Horimoto A, Kolčić I, Lim E, Liu Y, Manning AK, Marten J, Musani SK, Noordam R, Padmanabhan S, Rankinen T, Richard MA, Ridker PM, Smith AV, Vojinovic D, Zonderman AB, Alver M, Boissel M, Christensen K, Freedman BI, Gao C, Giulianini F, Harris SE, He M, Hsu FC, Kühnel B, Laguzzi F, Li X, Lyytikäinen LP, Nolte IM, Poveda A, Rauramaa R, Riaz M, Robino A, Sofer T, Takeuchi F, Tayo BO, van der Most PJ, Verweij N, Ware EB, Weiss S, Wen W, Yanek LR, Zhan Y, Amin N, Arking DE, Ballantyne C, Boerwinkle E, Brody JA, Broeckel U, Campbell A, Canouil M, Chai X, Chen YI, Chen X, Chitrala KN, Concas MP, de Faire U, de Mutsert R, de Silva HJ, de Vries PS, Do A, Faul JD, Fisher V, Floyd JS, Forrester T, Friedlander Y, Girotto G, Gu CC, Hallmans G, Heikkinen S, Heng CK, Homuth G, Hunt S, Ikram MA, Jacobs DR Jr, Kavousi M, Khor CC, Kilpeläinen TO, Koh WP, Komulainen P, Langefeld CD, Liang J, Liu K, Liu J, Lohman K, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Milaneschi Y, Nauck M, Nelson CP, O… See abstract for full author list ➔ de Las Fuentes L, et al. Among authors: uitterlinden ag. Front Genet. 2023 Nov 2;14:1235337. doi: 10.3389/fgene.2023.1235337. eCollection 2023. Front Genet. 2023. PMID: 38028628 Free PMC article.
The role of plasma concentrations and drug characteristics of beta-blockers in fall risk of older persons.
Ploegmakers KJ, van Poelgeest EP, Seppala LJ, van Dijk SC, de Groot LCPGM, Oliai Araghi S, van Schoor NM, Stricker B, Swart KMA, Uitterlinden AG, Mathôt RAA, van der Velde N. Ploegmakers KJ, et al. Among authors: uitterlinden ag. Pharmacol Res Perspect. 2023 Dec;11(6):e01126. doi: 10.1002/prp2.1126. Pharmacol Res Perspect. 2023. PMID: 37885367 Free PMC article.
Multi-ancestry genome-wide study identifies effector genes and druggable pathways for coronary artery calcification.
Kavousi M, Bos MM, Barnes HJ, Lino Cardenas CL, Wong D, Lu H, Hodonsky CJ, Landsmeer LPL, Turner AW, Kho M, Hasbani NR, de Vries PS, Bowden DW, Chopade S, Deelen J, Benavente ED, Guo X, Hofer E, Hwang SJ, Lutz SM, Lyytikäinen LP, Slenders L, Smith AV, Stanislawski MA, van Setten J, Wong Q, Yanek LR, Becker DM, Beekman M, Budoff MJ, Feitosa MF, Finan C, Hilliard AT, Kardia SLR, Kovacic JC, Kral BG, Langefeld CD, Launer LJ, Malik S, Hoesein FAAM, Mokry M, Schmidt R, Smith JA, Taylor KD, Terry JG, van der Grond J, van Meurs J, Vliegenthart R, Xu J, Young KA, Zilhão NR, Zweiker R, Assimes TL, Becker LC, Bos D, Carr JJ, Cupples LA, de Kleijn DPV, de Winther M, den Ruijter HM, Fornage M, Freedman BI, Gudnason V, Hingorani AD, Hokanson JE, Ikram MA, Išgum I, Jacobs DR Jr, Kähönen M, Lange LA, Lehtimäki T, Pasterkamp G, Raitakari OT, Schmidt H, Slagboom PE, Uitterlinden AG, Vernooij MW, Bis JC, Franceschini N, Psaty BM, Post WS, Rotter JI, Björkegren JLM, O'Donnell CJ, Bielak LF, Peyser PA, Malhotra R, van der Laan SW, Miller CL. Kavousi M, et al. Among authors: uitterlinden ag. Nat Genet. 2023 Oct;55(10):1651-1664. doi: 10.1038/s41588-023-01518-4. Epub 2023 Sep 28. Nat Genet. 2023. PMID: 37770635 Free PMC article.
1,283 results