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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: pichot a. 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.
Matching for the nonconventional MHC-I MICA gene significantly reduces the incidence of acute and chronic GVHD.
Carapito R, Jung N, Kwemou M, Untrau M, Michel S, Pichot A, Giacometti G, Macquin C, Ilias W, Morlon A, Kotova I, Apostolova P, Schmitt-Graeff A, 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, Lafarge X, Maumy-Bertrand M, Bertrand F, Vago L, Ciceri F, Paillard C, Querol S, Sierra J, Fleischhauer K, Nagler A, Labopin M, Inoko H, von dem Borne PA, Kuball J, Ota M, Katsuyama Y, Michallet M, Lioure B, Peffault de Latour R, Blaise D, Cornelissen JJ, Yakoub-Agha I, Claas F, Moreau P, Milpied N, Charron D, Mohty M, Zeiser R, Socié G, Bahram S. Carapito R, et al. Among authors: pichot a. Blood. 2016 Oct 13;128(15):1979-1986. doi: 10.1182/blood-2016-05-719070. Epub 2016 Aug 22. Blood. 2016. PMID: 27549307 Free PMC article. Clinical Trial.
A new MHC-linked susceptibility locus for primary Sjögren's syndrome: MICA.
Carapito R, Gottenberg JE, Kotova I, Untrau M, Michel S, Naegely L, Aouadi I, Kwemou M, Paul N, Pichot A, Locke J, Bowman SJ, Griffiths B, Sivils KL, Sibilia J, Inoko H, Micelli-Richard C, Nocturne G, Ota M, Ng WF, Mariette X, Bahram S. Carapito R, et al. Among authors: pichot a. Hum Mol Genet. 2017 Jul 1;26(13):2565-2576. doi: 10.1093/hmg/ddx135. Hum Mol Genet. 2017. PMID: 28379387 Free PMC article.
Hemodynamic Forces Tune the Arrest, Adhesion, and Extravasation of Circulating Tumor Cells.
Follain G, Osmani N, Azevedo AS, Allio G, Mercier L, Karreman MA, Solecki G, Garcia Leòn MJ, Lefebvre O, Fekonja N, Hille C, Chabannes V, Dollé G, Metivet T, Hovsepian F, Prudhomme C, Pichot A, Paul N, Carapito R, Bahram S, Ruthensteiner B, Kemmling A, Siemonsen S, Schneider T, Fiehler J, Glatzel M, Winkler F, Schwab Y, Pantel K, Harlepp S, Goetz JG. Follain G, et al. Among authors: pichot a. Dev Cell. 2018 Apr 9;45(1):33-52.e12. doi: 10.1016/j.devcel.2018.02.015. Dev Cell. 2018. PMID: 29634935 Free article.
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: pichot a. 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.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito R, Ivanova EL, Morlon A, Meng L, Molitor A, Erdmann E, Kieffer B, Pichot A, Naegely L, Kolmer A, Paul N, Hanauer A, Tran Mau-Them F, Jean-Marçais N, Hiatt SM, Cooper GM, Tvrdik T, Muir AM, Dimartino C, Chopra M, Amiel J, Gordon CT, Dutreux F, Garde A, Thauvin-Robinet C, Wang X, Leduc MS, Phillips M, Crawford HP, Kukolich MK, Hunt D, Harrison V, Kharbanda M; Deciphering Developmental Disorders Study; University of Washington Center for Mendelian Genomics; Smigiel R, Gold N, Hung CY, Viskochil DH, Dugan SL, Bayrak-Toydemir P, Joly-Helas G, Guerrot AM, Schluth-Bolard C, Rio M, Wentzensen IM, McWalter K, Schnur RE, Lewis AM, Lalani SR, Mensah-Bonsu N, Céraline J, Sun Z, Ploski R, Bacino CA, Mefford HC, Faivre L, Bodamer O, Chelly J, Isidor B, Bahram S. Carapito R, et al. Among authors: pichot a. Am J Hum Genet. 2019 Feb 7;104(2):319-330. doi: 10.1016/j.ajhg.2018.12.007. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639322 Free PMC article.
44 results