Publications

Auerbach, S., Puka, B., Golla, U., & Chachoua, I. (2024). Recent Advances towards the Understanding of Secondary Acute Myeloid Leukemia Progression. Life, 14(3), 309.

Bastard, P., Gervais, A., Taniguchi, M., Saare, L., Särekannu, K., Le Voyer, T., Philippot, Q., Rosain, J., Bizien, L., Asano, T., Garcia-Prat, M., Parra-Martínez, A., Migaud, M., Tsumura, M., Conti, F., Belot, A., Rivière, J. G., Morio, T., Tanaka, J., Javouhey, E., Ozcelik, T., … Casanova, J. L. (2024). Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children. The Journal of Experimental Medicine, 221(2), e20231353.

Lucena, M. I., Villanueva-Paz, M., Alvarez-Alvarez, I., Aithal, G. P., Björnsson, E. S., Cakan-Akdogan, G., Cubero, F. J., Esteves, F., Falcon-Perez, J. M., Fromenty, B., Garcia-Ruiz, C., Grove, J. I., Konu, O., Kranendonk, M., Kullak-Ublick, G. A., Miranda, J. P., Remesal-Doblado, A., Sancho-Bru, P., Nelson, L., Andrade, R. J., … Fernandez-Checa, J. C. (2024). Roadmap to DILI research in Europe. A proposal from COST action ProEuroDILINet. Pharmacological Research, 200, 107046.

Vural-Ozdeniz, M., Calisir, K., Acar, R., Yavuz, A., Ozgur, M. M., Dalgıc, E., & Konu, O. (2024). CAP-RNAseq: an integrated pipeline for functional annotation and prioritization of co-expression clusters. Briefings in Bioinformatics, 25(2), bbad536.

Bishop, T. R., Onal, P., Xu, Z., Zheng, M., Gunasinghe, H., Nien, C. Y., Small, S., & Datta, R. R. (2023). Multi-level regulation of even-skipped stripes by the ubiquitous factor Zelda. Development (Cambridge, England), 150(23), dev201860.

Karoglu-Eravsar, E. T., Tuz-Sasik, M. U., Karaduman, A., Keskus, A. G., Arslan-Ergul, A., Konu, O., Kafaligonul, H., & Adams, M. M. (2023). Long-Term Acetylcholinesterase Depletion Alters the Levels of Key Synaptic Proteins while Maintaining Neuronal Markers in the Aging Zebrafish (Danio rerio) Brain. Gerontology, 69(12), 1424–1436.

Kaysudu, I., Gungul, T. B., Atici, S., Yilmaz, S., Bayram, E., Guven, G., Cizmecioglu, N. T., Sahin, O., Yesiloz, G., Haznedaroglu, B. Z., & Cizmecioglu, O. (2023). Cholesterol biogenesis is a PTEN-dependent actionable node for the treatment of endocrine therapy-refractory cancers. Cancer Science, 114(11), 4365–4375.

Le Voyer, T., Parent, A. V., Liu, X., Cederholm, A., Gervais, A., Rosain, J., Nguyen, T., Perez Lorenzo, M., Rackaityte, E., Rinchai, D., Zhang, P., Bizien, L., Hancioglu, G., Ghillani-Dalbin, P., Charuel, J. L., Philippot, Q., Gueye, M. S., Maglorius Renkilaraj, M. R. L., Ogishi, M., Soudée, C., COVID Human Genetic Effort (Ozcelik, T.), … Puel, A. (2023). Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency. Nature, 623(7988), 803–813.

Sahin, A., Kara-Aksay, A., Bicmen, C., Belkaya, S., Kaya, A., & Yilmaz, D. (2023). Isolated Subcutaneous Abscess: A Rare Presentation of Extrapulmonary Tuberculosis. The Pediatric Infectious Disease Journal, 42(8), e316–e318.

Beyaz, Ş., Belkaya, S., & Öztop, N. (2023). Circulating Pentraxin-3 and its association with C-reactive protein levels and disease activity in patients with chronic spontaneous urticaria. Allergologia et Immunopathologia, 51(4), 87–93.

Üstündağ, G., Şahin, A., Yazıcı, Y. Y., Kara Aksay, A., Biçmen, C., Belkaya, S., & Yılmaz, D. (2023). Mycobacterium bovis’e Bağlı Zoonotik Pulmoner Tüberküloz Tanılı Bir İnfant [An Infant with Zoonotic Pulmonary Tuberculosis due to Mycobacterium bovis]. Mikrobiyoloji Bulteni, 57(3), 473–480.

Yazıcı, Y. Y., Belkaya, S., & Timucin, E. (2023). A small non-interface surface epitope in human IL18 mediates the dynamics and self-assembly of IL18-IL18BP heterodimers. Computational and Structural Biotechnology Journal, 21, 3522–3531.

García-García, A., Pérez de Diego, R., Flores, C., Rinchai, D., Solé-Violán, J., Deyà-Martínez, À., García-Solis, B., Lorenzo-Salazar, J. M., Hernández-Brito, E., Lanz, A. L., Moens, L., Bucciol, G., Almuqamam, M., Domachowske, J. B., Colino, E., Santos-Perez, J. L., Marco, F. M., Pignata, C., Bousfiha, A., Turvey, S. E., COVID Human Genetic Effort (Ozcelik, T.) … Rodríguez-Gallego, C. (2023). Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia. The Journal of Experimental Medicine, 220(5), e20220170.

Matuozzo, D., Talouarn, E., Marchal, A., Zhang, P., Manry, J., Seeleuthner, Y., Zhang, Y., Bolze, A., Chaldebas, M., Milisavljevic, B., Gervais, A., Bastard, P., Asano, T., Bizien, L., Barzaghi, F., Abolhassani, H., Abou Tayoun, A., Aiuti, A., Alavi Darazam, I., Allende, L. M., COVID Human Genetic Effort (Ozcelik, T.) … Cobat, A. (2023). Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19. Genome Medicine, 15(1), 22.

Papadopoulos, N., Nédélec, A., Derenne, A., Şulea, T. A., Pecquet, C., Chachoua, I., Vertenoeil, G., Tilmant, T., Petrescu, A.-J., Mazzucchelli, G., Iorga, B. I., Vertommen, D., & Constantinescu, S. N. (2023). Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation. Nature Communications, 14(4), 1881.

Gök, V., Erdem, Ş., Haliloğlu, Y., Bişgin, A., Belkaya, S., Başaran, K. E., Canatan, M. F., Özcan, A., Yılmaz, E., Acıpayam, C., Karakükcü, M., Canatan, H., Per, H., Patıroğlu, T., Eken, A., & Ünal, E. (2023). Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment. Genes and Immunity, 24(1), 12–20

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. (2023). Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. Journal of Clinical Immunology, 43(2), 406–420.

Lee, D., Le Pen, J., Yatim, A., Dong, B., Aquino, Y., Ogishi, M., Pescarmona, R., Talouarn, E., Rinchai, D., Zhang, P., Perret, M., Liu, Z., Jordan, I., Elmas Bozdemir, S., Bayhan, G. I., Beaufils, C., Bizien, L., Bisiaux, A., Lei, W., Hasan, M., Belkaya, S., COVID Human Genetic Effort (Ozcelik, T.) … Casanova, J. L. (2023). Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children. Science (New York, N.Y.), 379(6632), eabo3627.

Isik, O. A., & Cizmecioglu, O. (2023). Rafting on the Plasma Membrane: Lipid Rafts in Signaling and Disease. Advances in Experimental Medicine and Biology. Advance online publication.

Nakadai, T., Shimada, M., Ito, K., Cevher, M. A., Chu, C. S., Kumegawa, K., Maruyama, R., Malik, S., & Roeder, R. G. (2023). Two target gene activation pathways for orphan ERR nuclear receptors. Cell Research,  33(1), 165–183.

Tepe, Z. G., Yazıcı, Y. Y., Tank, U., Köse, L. I., Özer, M., Aytekin, C., & Belkaya, S. (2023). Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis. Journal of Clinical Immunology, 43(1), 192–205.

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. (2023). Secreted mutant calreticulins as rogue cytokines in myeloproliferative neoplasms. Blood, 141(8), 917–929.

Datta, R. R., & Onal, P. (2023). In Situ Hybridization as a Method to Examine Gene Regulatory Activity In Vivo. Methods in Molecular Biology (Clifton, N.J.), 2599, 241–254.

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).

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.

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.

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).

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.

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.

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).

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).

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.

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.