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Page 1
Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort.
Carapito R, Li R, Helms J, Carapito C, Gujja S, Rolli V, Guimaraes R, Malagon-Lopez J, Spinnhirny P, Lederle A, Mohseninia R, Hirschler A, Muller L, Bastard P, Gervais A, Zhang Q, Danion F, Ruch Y, Schenck M, Collange O, Chamaraux-Tran TN, Molitor A, Pichot A, Bernard A, Tahar O, Bibi-Triki S, Wu H, Paul N, Mayeur S, Larnicol A, Laumond G, Frappier J, Schmidt S, Hanauer A, Macquin C, Stemmelen T, Simons M, Mariette X, Hermine O, Fafi-Kremer S, Goichot B, Drenou B, Kuteifan K, Pottecher J, Mertes PM, Kailasan S, Aman MJ, Pin E, Nilsson P, Thomas A, Viari A, Sanlaville D, Schneider F, Sibilia J, Tharaux PL, Casanova JL, Hansmann Y, Lidar D, Radosavljevic M, Gulcher JR, Meziani F, Moog C, Chittenden TW, Bahram S. Carapito R, et al. Among authors: rolli v. Sci Transl Med. 2022 Jan 19;14(628):eabj7521. doi: 10.1126/scitranslmed.abj7521. Epub 2022 Jan 19. Sci Transl Med. 2022. PMID: 34698500 Free article.
Lipolysis is altered in MHC class I zinc-alpha(2)-glycoprotein deficient mice.
Rolli V, Radosavljevic M, Astier V, Macquin C, Castan-Laurell I, Visentin V, Guigné C, Carpéné C, Valet P, Gilfillan S, Bahram S. Rolli V, et al. FEBS Lett. 2007 Feb 6;581(3):394-400. doi: 10.1016/j.febslet.2006.12.047. Epub 2007 Jan 10. FEBS Lett. 2007. PMID: 17234189 Free article.
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Carapito R, et al. Among authors: rolli v. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3. J Clin Invest. 2017. PMID: 28972538 Free PMC article.
Zinc-Alpha-2-Glycoprotein in Inflammatory Bowel Disease.
Rolli V, Macquin C, Kokten T, Hablot J, Ndiaye NC, Netter P, Bahram S, Jouzeau JY, Peyrin-Biroulet L, Georgel P, Moulin D. Rolli V, et al. Inflamm Bowel Dis. 2018 Apr 23;24(5):e10. doi: 10.1093/ibd/izy120. Inflamm Bowel Dis. 2018. PMID: 29688476 No abstract available.
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.
Carapito R, Carapito C, Morlon A, Paul N, Vaca Jacome AS, Alsaleh G, Rolli V, Tahar O, Aouadi I, Rompais M, Delalande F, Pichot A, Georgel P, Messer L, Sibilia J, Cianferani S, Van Dorsselaer A, Bahram S. Carapito R, et al. Among authors: rolli v. Ann Rheum Dis. 2018 Nov;77(11):1675-1687. doi: 10.1136/annrheumdis-2018-213524. Epub 2018 Jul 20. Ann Rheum Dis. 2018. PMID: 30030262 Free PMC article.
Compatibility at amino acid position 98 of MICB reduces the incidence of graft-versus-host disease in conjunction with the CMV status.
Carapito R, Aouadi I, Pichot A, Spinnhirny P, Morlon A, Kotova I, Macquin C, Rolli V, Cesbron A, Gagne K, Oudshoorn M, van der Holt B, Labalette M, Spierings E, Picard C, Loiseau P, Tamouza R, Toubert A, Parissiadis A, Dubois V, Paillard C, Maumy-Bertrand M, Bertrand F, von dem Borne PA, Kuball JHE, Michallet M, Lioure B, Peffault de Latour R, Blaise D, Cornelissen JJ, Yakoub-Agha I, Claas F, Moreau P, Charron D, Mohty M, Morishima Y, Socié G, Bahram S. Carapito R, et al. Among authors: rolli v. Bone Marrow Transplant. 2020 Jul;55(7):1367-1378. doi: 10.1038/s41409-020-0886-5. Epub 2020 Apr 14. Bone Marrow Transplant. 2020. PMID: 32286503 Free article.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. Castro CN, et al. Among authors: rolli v. J Exp Med. 2020 Dec 7;217(12):e20192275. doi: 10.1084/jem.20192275. J Exp Med. 2020. PMID: 32766723 Free PMC article.
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: rolli v. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Zinc-α2-Glycoprotein Exerts Antifibrotic Effects in Kidney and Heart.
Sörensen-Zender I, Bhayana S, Susnik N, Rolli V, Batkai S, Baisantry A, Bahram S, Sen P, Teng B, Lindner R, Schiffer M, Thum T, Melk A, Haller H, Schmitt R. Sörensen-Zender I, et al. Among authors: rolli v. J Am Soc Nephrol. 2015 Nov;26(11):2659-68. doi: 10.1681/ASN.2014050485. Epub 2015 Mar 18. J Am Soc Nephrol. 2015. PMID: 25788525 Free PMC article.
20 results