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Page 1
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A. Elouej S, et al. Among authors: deleuze jf. Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9. Nat Commun. 2020. PMID: 32917887 Free PMC article.
Histone variant H2A.J accumulates in senescent cells and promotes inflammatory gene expression.
Contrepois K, Coudereau C, Benayoun BA, Schuler N, Roux PF, Bischof O, Courbeyrette R, Carvalho C, Thuret JY, Ma Z, Derbois C, Nevers MC, Volland H, Redon CE, Bonner WM, Deleuze JF, Wiel C, Bernard D, Snyder MP, Rübe CE, Olaso R, Fenaille F, Mann C. Contrepois K, et al. Among authors: deleuze jf. Nat Commun. 2017 May 10;8:14995. doi: 10.1038/ncomms14995. Nat Commun. 2017. PMID: 28489069 Free PMC article.
Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.
Letouzé E, Shinde J, Renault V, Couchy G, Blanc JF, Tubacher E, Bayard Q, Bacq D, Meyer V, Semhoun J, Bioulac-Sage P, Prévôt S, Azoulay D, Paradis V, Imbeaud S, Deleuze JF, Zucman-Rossi J. Letouzé E, et al. Among authors: deleuze jf. Nat Commun. 2017 Nov 3;8(1):1315. doi: 10.1038/s41467-017-01358-x. Nat Commun. 2017. PMID: 29101368 Free PMC article.
Cyclin A2/E1 activation defines a hepatocellular carcinoma subclass with a rearrangement signature of replication stress.
Bayard Q, Meunier L, Peneau C, Renault V, Shinde J, Nault JC, Mami I, Couchy G, Amaddeo G, Tubacher E, Bacq D, Meyer V, La Bella T, Debaillon-Vesque A, Bioulac-Sage P, Seror O, Blanc JF, Calderaro J, Deleuze JF, Imbeaud S, Zucman-Rossi J, Letouzé E. Bayard Q, et al. Among authors: deleuze jf. Nat Commun. 2018 Dec 7;9(1):5235. doi: 10.1038/s41467-018-07552-9. Nat Commun. 2018. PMID: 30531861 Free PMC article.
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Elouej S, Harhouri K, Mao ML, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Lévy N, De Sandre-Giovannoli A. Elouej S, et al. Among authors: deleuze jf. Nat Commun. 2020 Oct 19;11(1):5349. doi: 10.1038/s41467-020-19290-y. Nat Commun. 2020. PMID: 33077719 Free PMC article.
Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.
Georges A, Yang ML, Berrandou TE, Bakker MK, Dikilitas O, Kiando SR, Ma L, Satterfield BA, Sengupta S, Yu M, Deleuze JF, Dupré D, Hunker KL, Kyryachenko S, Liu L, Sayoud-Sadeg I, Amar L, Brummett CM, Coleman DM, d'Escamard V, de Leeuw P, Fendrikova-Mahlay N, Kadian-Dodov D, Li JZ, Lorthioir A, Pappaccogli M, Prejbisz A, Smigielski W, Stanley JC, Zawistowski M, Zhou X, Zöllner S; FEIRI investigators; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; MEGASTROKE; Amouyel P, De Buyzere ML, Debette S, Dobrowolski P, Drygas W, Gornik HL, Olin JW, Piwonski J, Rietzschel ER, Ruigrok YM, Vikkula M, Warchol Celinska E, Januszewicz A, Kullo IJ, Azizi M; ARCADIA Investigators; Jeunemaitre X, Persu A, Kovacic JC, Ganesh SK, Bouatia-Naji N. Georges A, et al. Among authors: deleuze jf. Nat Commun. 2021 Oct 15;12(1):6031. doi: 10.1038/s41467-021-26174-2. Nat Commun. 2021. PMID: 34654805 Free PMC article.
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B. Szenker-Ravi E, et al. Among authors: deleuze jf. Nat Genet. 2022 Jan;54(1):62-72. doi: 10.1038/s41588-021-00970-4. Epub 2021 Dec 13. Nat Genet. 2022. PMID: 34903892
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
Romero DM, Poirier K, Belvindrah R, Moutkine I, Houllier A, LeMoing AG, Petit F, Boland A, Collins SC, Soiza-Reilly M, Yalcin B, Chelly J, Deleuze JF, Bahi-Buisson N, Francis F. Romero DM, et al. Among authors: deleuze jf. Nat Commun. 2022 May 18;13(1):2746. doi: 10.1038/s41467-022-30443-z. Nat Commun. 2022. PMID: 35585091 Free PMC article.
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Ziegler A, Steindl K, Hanner AS, Kar RK, Prouteau C, Boland A, Deleuze JF, Coubes C, Bézieau S, Küry S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D, Park MH. Ziegler A, et al. Among authors: deleuze jf. Am J Hum Genet. 2022 Aug 4;109(8):1549-1558. doi: 10.1016/j.ajhg.2022.06.010. Epub 2022 Jul 19. Am J Hum Genet. 2022. PMID: 35858628 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: deleuze jf. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
441 results