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Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, Pignata C. Giardino G, et al. Among authors: rota ia. J Clin Immunol. 2021 May;41(4):756-768. doi: 10.1007/s10875-021-00967-y. Epub 2021 Jan 19. J Clin Immunol. 2021. PMID: 33464451 Free PMC article.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Rota IA, Handel AE, Maio S, Klein F, Dhalla F, Deadman ME, Cheuk S, Newman JA, Michaels YS, Zuklys S, Prevot N, Hublitz P, Charles PD, Gkazi AS, Adamopoulou E, Qasim W, Davies EG, Hanson I, Pagnamenta AT, Camps C, Dreau HM, White A, James K, Fischer R, Gileadi O, Taylor JC, Fulga T, Lagerholm BC, Anderson G, Sezgin E, Holländer GA. Rota IA, et al. Sci Adv. 2021 Dec 3;7(49):eabj9247. doi: 10.1126/sciadv.abj9247. Epub 2021 Dec 3. Sci Adv. 2021. PMID: 34860543 Free PMC article.
Keratinocyte growth factor impairs human thymic recovery from lymphopenia.
Coles AJ, Azzopardi L, Kousin-Ezewu O, Mullay HK, Thompson SA, Jarvis L, Davies J, Howlett S, Rainbow D, Babar J, Sadler TJ, Brown JWL, Needham E, May K, Georgieva ZG, Handel AE, Maio S, Deadman M, Rota I, Holländer G, Dawson S, Jayne D, Seggewiss-Bernhardt R, Douek DC, Isaacs JD, Jones JL. Coles AJ, et al. JCI Insight. 2019 May 7;5(12):e125377. doi: 10.1172/jci.insight.125377. JCI Insight. 2019. PMID: 31063156 Free PMC article. Clinical Trial.
15 results