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Page 1
Dominant negative ADA2 mutations cause ADA2 deficiency in heterozygous carriers.
Wouters M, Ehlers L, Van Eynde W, Kars ME, Delafontaine S, Kienapfel V, Dzhus M, Schrijvers R, De Haes P, Struyf S, Bucciol G, Itan Y, Bolze A, Voet A, Hombrouck A, Moens L, Ogunjimi B, Meyts I. Wouters M, et al. Among authors: itan y. medRxiv [Preprint]. 2024 Dec 11:2024.12.09.24317629. doi: 10.1101/2024.12.09.24317629. medRxiv. 2024. PMID: 39711711 Free PMC article. Preprint.
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X, Betti MJ, Kars ME, Patterson A, Medina-Torres EA, Scheffler Mendoza SC, Herrera Sánchez DA, Lopez-Herrera G, Svyryd Y, Mutchinick OM, Gamazon E, Rathmell JC, Itan Y, Markle J, O'Farrill Romanillos P, Lugo-Reyes SO, Martinez-Barricarte R. Zhen X, et al. Among authors: itan y. medRxiv [Preprint]. 2024 May 14:2024.05.13.24307299. doi: 10.1101/2024.05.13.24307299. medRxiv. 2024. Update in: J Clin Immunol. 2024 Dec 4;45(1):53. doi: 10.1007/s10875-024-01836-0. PMID: 38798393 Free PMC article. Updated. Preprint.
Correction: Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Horesh ME, Martin-Fernandez M, Gruber C, Buta S, Le Voyer T, Puzenat E, Lesmana H, Wu Y, Richardson A, Stein D, Hodeib S, Youssef M, Kurowski JA, Feuille E, Pedroza LA, Fuleihan RL, Haseley A, Hovnanian A, Quartier P, Rosain J, Davis G, Mullan D, Stewart O, Patel R, Lee AE, Rubinstein R, Ewald L, Maheshwari N, Rahming V, Chinn IK, Lupski JR, Orange JS, Sancho-Shimizu V, Casanova JL, Abul-Husn NS, Itan Y, Milner JD, Bustamante J, Bogunovic D. Horesh ME, et al. Among authors: itan y. J Exp Med. 2024 Jun 3;221(6):e2023238704302024c. doi: 10.1084/jem.2023238704302024c. Epub 2024 May 6. J Exp Med. 2024. PMID: 38709237 Free PMC article. No abstract available.
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL. Liu L, et al. Among authors: itan y. J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4. J Exp Med. 2011. PMID: 21727188 Free PMC article.
Evolutionary genetic dissection of human interferons.
Manry J, Laval G, Patin E, Fornarino S, Itan Y, Fumagalli M, Sironi M, Tichit M, Bouchier C, Casanova JL, Barreiro LB, Quintana-Murci L. Manry J, et al. Among authors: itan y. J Exp Med. 2011 Dec 19;208(13):2747-59. doi: 10.1084/jem.20111680. Epub 2011 Dec 12. J Exp Med. 2011. PMID: 22162829 Free PMC article. Clinical Trial.
Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.
Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S. Kong XF, et al. Among authors: itan y. Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161749 Free PMC article.
The human gene connectome as a map of short cuts for morbid allele discovery.
Itan Y, Zhang SY, Vogt G, Abhyankar A, Herman M, Nitschke P, Fried D, Quintana-Murci L, Abel L, Casanova JL. Itan Y, et al. Proc Natl Acad Sci U S A. 2013 Apr 2;110(14):5558-63. doi: 10.1073/pnas.1218167110. Epub 2013 Mar 18. Proc Natl Acad Sci U S A. 2013. PMID: 23509278 Free PMC article.
126 results