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Page 1
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine H, Raud L, Foulquier F, Sayer JA, Lambert B, Olinger E, Lefèvre S, Knebelmann B, Harris PC, Trouvé P, Desprès A, Duneau G, Matignon M, Poyet A, Jourde-Chiche N, Guerrot D, Lemoine S, Seret G, Barroso-Gil M, Bingham C, Gilbert R; Genomics England Research Consortium; Genkyst Study Group; Le Meur Y, Audrézet MP, Cornec-Le Gall E. Lemoine H, et al. Among authors: despres a. Am J Hum Genet. 2022 Aug 4;109(8):1484-1499. doi: 10.1016/j.ajhg.2022.06.013. Epub 2022 Jul 26. Am J Hum Genet. 2022. PMID: 35896117 Free PMC article.
Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease.
Huynh VT, Audrézet MP, Sayer JA, Ong AC, Lefevre S, Le Brun V, Després A, Senum SR, Chebib FT, Barroso-Gil M, Patel C, Mallett AJ, Goel H, Mallawaarachchi AC, Van Eerde AM, Ponlot E, Kribs M; Genkyst Study Group, Genomics England Research Consortium; Le Meur Y, Harris PC, Cornec-Le Gall E. Huynh VT, et al. Among authors: despres a. Kidney Int. 2020 Aug;98(2):476-487. doi: 10.1016/j.kint.2020.02.022. Epub 2020 Mar 23. Kidney Int. 2020. PMID: 32631624 Free PMC article.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R. Bezzina CR, et al. Among authors: despres a. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Lipoprotein Proteomics and Aortic Valve Transcriptomics Identify Biological Pathways Linking Lipoprotein(a) Levels to Aortic Stenosis.
Bourgeois R, Bourgault J, Despres AA, Perrot N, Guertin J, Girard A, Mitchell PL, Gotti C, Bourassa S, Scipione CA, Gaudreault N, Boffa MB, Koschinsky ML, Pibarot P, Droit A, Thériault S, Mathieu P, Bossé Y, Arsenault BJ. Bourgeois R, et al. Among authors: despres aa. Metabolites. 2021 Jul 16;11(7):459. doi: 10.3390/metabo11070459. Metabolites. 2021. PMID: 34357353 Free PMC article.
A Comparative Analysis of the Lipoprotein(a) and Low-Density Lipoprotein Proteomic Profiles Combining Mass Spectrometry and Mendelian Randomization.
Bourgeois R, Girard A, Perrot N, Guertin J, Mitchell PL, Couture C, Gotti C, Bourassa S, Poggio P, Mass E, Capoulade R, Scipione CA, Després AA, Couture P, Droit A, Pibarot P, Boffa MB, Thériault S, Koschinsky ML, Mathieu P, Arsenault BJ. Bourgeois R, et al. Among authors: despres aa. CJC Open. 2020 Dec 3;3(4):450-459. doi: 10.1016/j.cjco.2020.11.019. eCollection 2021 Apr. CJC Open. 2020. PMID: 34027348 Free PMC article.
Interaction of Autotaxin With Lipoprotein(a) in Patients With Calcific Aortic Valve Stenosis.
Bourgeois R, Devillers R, Perrot N, Després AA, Boulanger MC, Mitchell PL, Guertin J, Couture P, Boffa MB, Scipione CA, Pibarot P, Koschinsky ML, Mathieu P, Arsenault BJ. Bourgeois R, et al. Among authors: despres aa. JACC Basic Transl Sci. 2020 Aug 26;5(9):888-897. doi: 10.1016/j.jacbts.2020.06.012. eCollection 2020 Sep. JACC Basic Transl Sci. 2020. PMID: 33015412 Free PMC article.
Lipoprotein(a), Oxidized Phospholipids, and Aortic Valve Microcalcification Assessed by 18F-Sodium Fluoride Positron Emission Tomography and Computed Tomography.
Després AA, Perrot N, Poulin A, Tastet L, Shen M, Chen HY, Bourgeois R, Trottier M, Tessier M, Guimond J, Nadeau M, Engert JC, Thériault S, Bossé Y, Witztum JL, Couture P, Mathieu P, Dweck MR, Tsimikas S, Thanassoulis G, Pibarot P, Clavel MA, Arsenault BJ. Després AA, et al. CJC Open. 2019 Apr 12;1(3):131-140. doi: 10.1016/j.cjco.2019.03.004. eCollection 2019 May. CJC Open. 2019. PMID: 32159096 Free PMC article.
18 results