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Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice.
Bao J, Perez CJ, Kim J, Zhang H, Murphy CJ, Hamidi T, Jaubert J, Platt CD, Chou J, Deng M, Zhou MH, Huang Y, Gaitán-Peñas H, Guénet JL, Lin K, Lu Y, Chen T, Bedford MT, Dent SY, Richburg JH, Estévez R, Pan HL, Geha RS, Shi Q, Benavides F. Bao J, et al. Among authors: platt cd. JCI Insight. 2018 Aug 23;3(16):e99767. doi: 10.1172/jci.insight.99767. eCollection 2018 Aug 23. JCI Insight. 2018. PMID: 30135305 Free PMC article.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: platt cd. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
A novel variant in STAT2 presenting with hemophagocytic lymphohistiocytosis.
Alosaimi MF, Maciag MC, Platt CD, Geha RS, Chou J, Bartnikas LM. Alosaimi MF, et al. Among authors: platt cd. J Allergy Clin Immunol. 2019 Aug;144(2):611-613.e3. doi: 10.1016/j.jaci.2019.05.008. Epub 2019 May 15. J Allergy Clin Immunol. 2019. PMID: 31102697 Free PMC article.
60 results