검색결과 : 3건
| No. | Article |
|---|---|
| 1 |
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang YP, Burkhardt JK, Latour S, Chen BY, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ Science, 369(6500), 202, 2020 |
| 2 |
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL Science, 349(6248), 606, 2015 |
| 3 |
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Degli Esposti M, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S Nature, 510(7504), 288, 2014 |