Publications

NOVEMBER 2022

Pecquet, C., Papadopoulos, N., Balligand, T., Chachoua, I., Tisserand, A., Vertenoeil, G., Nédélec, A., Vertommen, D., Roy, A., Marty, C., Nivarthi, H., Defour, J. P., El-Khoury, M., Hug, E., Majoros, A., Xu, E., Zagrijtschuk, O., Fertig, T. E., Marta, D. S., Gisslinger, H., … Constantinescu, S. N. (2022). Secreted Mutant Calreticulins As Rogue Cytokines in Myeloproliferative Neoplasms. Blood. Advance online publication.

Zhang, Q., Pizzorno, A., Miorin, L., Bastard, P., Gervais, A., Le Voyer, T., Bizien, L., Manry, J., Rosain, J., Philippot, Q., Goavec, K., Padey, B., Cupic, A., Laurent, E., Saker, K., Vanker, M., Särekannu, K., COVID Human Genetic Effort (Ozcelik, T.), Etablissement Français du Sang Study Group, Constances Cohort, … Casanova, J. L. (2022). Autoantibodies against type I IFNs in patients with critical influenza pneumonia. The Journal of Experimental Medicine, 219(11).

OCTOBER 2022

Bolze, A., Mogensen, T. H., Zhang, S. Y., Abel, L., Andreakos, E., Arkin, L. M., Borghesi, A., Brodin, P., Hagin, D., Novelli, G., Okada, S., Peter, J., Renia, L., Severe, K., Tiberghien, P., Vinh, D. C., COVID human genetic effort (Ozcelik, T.), Cirulli, E. T., Casanova, J. L., & Hsieh, E. (2022). Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis. Journal of Clinical Immunology, 1–6.

Kabbani, M., Michailidis, E., Steensels, S., Fulmer, C. G., Luna, J. M., Le Pen, J., Tardelli, M., Razooky, B., Ricardo-Lax, I., Zou, C., Zeck, B., Stenzel, A. F., Quirk, C., Foquet, L., Ashbrook, A. W., Schneider, W. M., Belkaya, S., Lalazar, G., Liang, Y., Pittman, M., … de Jong, Y. P. (2022). Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric mice. Cell Reports, 40(11), 111321.

Korol, C. B., Belkaya, S., Alsohime, F., Lorenzo, L., Boisson-Dupuis, S., Brancale, J., Neehus, A. L., Vilarinho, S., Zobaida, A., Halwani, R., Al-Muhsen, S., Casanova, J. L., & Jouanguy, E. (2022). Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. Journal of Clinical Immunology.

Özçelik, E., Kalaycı, A., Çelik, B., Avcı, A., Akyol, H., Kılıç, İ. B., Güzel, T., Çetin, M., Öztürk, M. T., Çalışkaner, Z. O., Tombaz, M., Yoleri, D., Konu, Ö., & Kandilci, A. (2022). Doxorubicin induces prolonged DNA damage signal in cells overexpressing DEK isoform-2. PloS One, 17(10), e0275476.

Yildirim, A. D., Citir, M., Dogan, A. E., Veli, Z., Yildirim, Z., Tufanli, O., Traynor-Kaplan, A., Schultz, C., & Erbay, E. (2022). ER Stress-Induced Sphingosine-1-Phosphate Lyase Phosphorylation Potentiates the Mitochondrial Unfolded Protein Response. Journal of Lipid Research, 63(10), 100279.

SEPTEMBER 2022

Tepe, Z. G., Yazıcı, Y. Y., Tank, U., Köse, L. I., Özer, M., Aytekin, C., & Belkaya, S. (2022). Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis. Journal of Clinical Immunology, 1–14.

AUGUST 2022

Zhang, Q., Matuozzo, D., Le Pen, J., Lee, D., Moens, L., Asano, T., Bohlen, J., Liu, Z., Moncada-Velez, M., Kendir-Demirkol, Y., Jing, H., Bizien, L., Marchal, A., Abolhassani, H., Delafontaine, S., Bucciol, G., COVID Human Genetic Effort (Ozcelik, T.), Bayhan, G. I., Keles, S., Kiykim, A., … Casanova, J. L. (2022). Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. The Journal of Experimental Medicine, 219(8).

JULY 2022

Dogan, A. E., Hamid, S. M., Yildirim, A. D., Yildirim, Z., Sen, G., Riera, C. E., Gottlieb, R. A., & Erbay, E. (2022). PACT establishes a posttranscriptional brake on mitochondrial biogenesis by promoting the maturation of miR-181c. The Journal of Biological Chemistry, 298(7), 102050.

JUNE 2022

Bastard, P., Vazquez, S., Liu, J., Laurie, M. T., Wang, C. Y., Gervais, A., Le Voyer, T., Bizien, L., Zamecnik, C., Philippot, Q., Rosain, J., Catherinot, E., Willmore, A., Mitchell, A. M., Bair, R., Garçon, P., Kenney, H., Fekkar, A., Salagianni, M., Poulakou, G., Ozcelik, T. … DeRisi, J. L. (2022). Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs. Science Immunology.

Campbell, T. M., Liu, Z., Zhang, Q., Moncada-Velez, M., Covill, L. E., Zhang, P., Alavi Darazam, I., Bastard, P., Bizien, L., Bucciol, G., Lind Enoksson, S., Jouanguy, E., Karabela, Ş. N., Khan, T., Kendir-Demirkol, Y., Arias, A. A., Mansouri, D., Marits, P., Marr, N., Migeotte, I., Ozcelik, T., … Bryceson, Y. T. (2022). Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency. The Journal of Experimental Medicine, 219(7).

Pehlevan Özel, H., Dinç, T., Tiryaki, R. S., Keşküş, A. G., Konu, Ö., Kayilioğlu, S. I., & Coşkun, F. (2022). Targeted MicroRNA Profiling in Gastric Cancer with Clinical Assessement. Balkan journal of medical genetics : BJMG, 24(2), 55–64.

APRIL 2022

Yildirim, Z., Baboo, S., Hamid, S. M., Dogan, A. E., Tufanli, O., Robichaud, S., Emerton, C., Diedrich, J. K., Vatandaslar, H., Nikolos, F., Gu, Y., Iwawaki, T., Tarling, E., Ouimet, M., Nelson, D. L., Yates, J. R., 3rd, Walter, P., & Erbay, E. (2022). Intercepting IRE1 kinase-FMRP signaling prevents atherosclerosis progression. EMBO Molecular Medicine, 14(4).

MAY 2022

Brodin, P., Casari, G., Townsend, L., O'Farrelly, C., Tancevski, I., Löffler-Ragg, J., Mogensen, T. H., Casanova, J. L., Ozcelik, T., ... COVID Human Genetic Effort (2022). Studying severe long COVID to understand post-infectious disorders beyond COVID-19. Nature Medicine, 28(5), 879–882.

Demir, M., & Cizmecioglu, O. (2022). ZAP70 Activation Compensates for Loss of Class IA PI3K Isoforms Through Activation of the JAK-STAT3 Pathway. Cancer Diagnosis & Prognosis, 2(3), 391–404.

Gao, X., Wang, Y., Ribeiro, C. F., Manokaran, C., Chang, H., Von, T., Rodrigues, S., Cizmecioglu, O., Jia, S., Korpal, M., Korn, J. M., Wang, Z., Schmit, F., Jiang, L., Pagliarini, R., Yang, Y., Sethi, I., Signoretti, S., Yuan, G. C., Loda, M., … Roberts, T. M. (2022). Blocking PI3K p110β Attenuates Development of PTEN-Deficient Castration-Resistant Prostate Cancer. Molecular Cancer Research, 20(5), 673–685.

Manry, J., Bastard, P., Gervais, A., Le Voyer, T., Rosain, J., Philippot, Q., Michailidis, E., Hoffmann, H. H., Eto, S., Garcia-Prat, M., Bizien, L., Parra-Martínez, A., Yang, R., Haljasmägi, L., Migaud, M., Särekannu, K., Maslovskaja, J., de Prost, N., Tandjaoui-Lambiotte, Y., Luyt, C. E., Ozcelik, T., … Cobat, A. (2022). The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies. Proceedings of the National Academy of Sciences of the United States of America, 119(21).

MARCH 2022

Zhang, Q., Bastard, P., ... COVID Human Genetic Effort (Ozcelik, T.), Cobat, A., & Casanova, J. L. (2022). Human genetic and immunological determinants of critical COVID-19 pneumonia. Nature, 603(7902), 587–598.

FEBRUARY 2022

Andreakos, E., Abel, L., Vinh, D. C., Kaja, E., Drolet, B. A., Zhang, Q., O'Farrelly, C., Novelli, G., Rodríguez-Gallego, C., Haerynck, F., Prando, C., Pujol, A., ... COVID Human Genetic Effort (Ozcelik, T.), Su, H. C., Casanova, J. L., & Spaan, A. N. (2022). A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection. Nature Immunology, 23(2), 159–164.

Keskus, A. G., Tombaz, M., Arici, B. I., Dincaslan, F. B., Nabi, A., Shehwana, H., & Konu, O. (2022). Functional analysis of co-expression networks of zebrafish ace2 reveals enrichment of pathways associated with development and disease. Genome, 65(2), 57–74.

Göktuna S. I. (2022). IKBKE-driven TPL2 and MEK1 phosphorylations sustain constitutive ERK1/2 activation in tumor cells. EXCLI journal, 21, 436–453.

JANUARY 2022

Cagnan, I., Keles, M., Keskus, A. G., Tombaz, M., Sahan, O. B., Aerts-Kaya, F., Uckan-Cetinkaya, D., Konu, O., & Gunel-Ozcan, A. (2022). Global miRNA expression of bone marrow mesenchymal stem/stromal cells derived from Fanconi anemia patients. Human Cell, 35(1), 111–124.

Chachoua, I., Tzelepis, I., Dai, H., Lim, J. P., Lewandowska-Ronnegren, A., Casagrande, F. B., Wu, S., Vestlund, J., Mallet de Lima, C. D., Bhartiya, D., Scholz, B. A., Martino, M., Mehmood, R., & Göndör, A. (2022). Canonical WNT signaling-dependent gating of MYC requires a noncanonical CTCF function at a distal binding site. Nature Communications, 13(1), 204.

Chen, Q., Cevher, M. A., Jiang, Q., Wang, S., Sun, X., Roeder, R. G., & Chen, M. (2022). LYL1 facilitates AETFC assembly and gene activation by recruiting CARM1 in t(8;21) AML. Proceedings of the National Academy of Sciences of the United States of America, 119(42).