Research output per year
Research output per year
- 18 results
Search results
-
2024
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains
Kuehn, H. S., Sakovich, I. S., Niemela, J. E., Silva, A. A. G., Stoddard, J. L., Polyakova, E. A., Sole, A. E., Aleshkevich, S. N., Uglova, T. A., Belevtsev, M. V., Vertelko, V. R., Shman, T. V., Kupchinskaya, A. N., Walter, J. E., Fleisher, T. A., Notarangelo, L. D., Peng, X. P., Delmonte, O. M., Sharapova, S. O. & Rosenzweig, S. D., Feb 10 2024, In: Journal of Clinical Investigation. 134, 3, e172573.Research output: Contribution to journal › Article › peer-review
Open Access -
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity
Caballero-Oteyza, A., Crisponi, L., Peng, X. P., Yauy, K., Volpi, S., Giardino, S., Freeman, A. F., Grimbacher, B. & Proietti, M., Mar 2024, In: Journal of Allergy and Clinical Immunology. 153, 3, p. 831-843 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
OTULIN-related conditions: Report of a new case and review of the literature using GenIA
Caballero-Oteyza, A., Crisponi, L., Peng, X. P., Wang, H., Mrovecova, P., Olla, S., Siguri, C., Marnissi, F., Jouhadi, Z., Aksentijevich, I., Grimbacher, B. & Proietti, M., Aug 2024, In: Clinical Immunology. 265, 110292.Research output: Contribution to journal › Article › peer-review
Open Access -
2023
ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality
Sindram, E., Caballero-Oteyza, A., Kogata, N., Huang, S. C. M., Alizadeh, Z., Gámez-Dıáz, L., Fazlollhi, M. R., Peng, X., Grimbacher, B., Way, M. & Proietti, M., Jul 2023, In: DMM Disease Models and Mechanisms. 16, 7, dmm050145.Research output: Contribution to journal › Article › peer-review
Open Access -
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
Peng, X. P., Al-Ddafari, M. S., Caballero-Oteyza, A., El Mezouar, C., Mrovecova, P., Dib, S. E., Massen, Z., Smahi, M. C. E., Faiza, A., Hassaïne, R. T., Lefranc, G., Aribi, M. & Grimbacher, B., Nov 2023, In: Clinical Immunology. 256, 109758.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation
Hoshino, A., Boutboul, D., Zhang, Y., Kuehn, H. S., Hadjadj, J., Özdemir, N., Celkan, T., Walz, C., Picard, C., Lenoir, C., Mahlaoui, N., Klein, C., Peng, X., Azar, A., Reigh, E., Cheminant, M., Fischer, A., Rieux-Laucat, F., Callebaut, I. & Hauck, F. & 3 others, , Mar 2022, In: Science Immunology. 7, 69, eabi7160.Research output: Contribution to journal › Article › peer-review
Open Access -
2021
Surgical Debulking for Refractory Hyperammonemic Encephalopathy in Fibrolamellar Hepatocellular Carcinoma
Solipuram, V., Baretti, M., Kim, A. Y., Chen, L. X., Fahrner, J. A., Gunay-Aygun, M., Peng, X. P., Hardenbergh, D., Ferguson, A., Griffith, P., Wang, Y., Brancati, M., Gopalakrishna, H., Kato, T., Shubert, C., Laheru, D. & Yarchoan, M., Nov 2021, In: Hepatology. 74, 5, p. 2899-2901 3 p.Research output: Contribution to journal › Article › peer-review
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2020
Case of Cowden Syndrome with 15 Spinal Arteriovenous Fistulas
Hedjoudje, A., Peng, X., Gautam, A., Pardo, C. A., Sciubba, D. & Gailloud, P., Jul 2020, In: World neurosurgery. 139, p. 567-576 10 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
2019
Sumoylation of the DNA polymerase ε by the Smc5/6 complex contributes to DNA replication
Meng, X., Wei, L., Peng, X. P. & Zhao, X., 2019, In: PLoS genetics. 15, 11, e1008426.Research output: Contribution to journal › Article › peer-review
Open Access -
2018
Acute Smc5/6 depletion reveals its primary role in rDNA replication by restraining recombination at fork pausing sites
Peng, X. P., Lim, S., Li, S., Marjavaara, L., Chabes, A. & Zhao, X., Jan 2018, In: PLoS genetics. 14, 1, e1007129.Research output: Contribution to journal › Article › peer-review
Open Access -
2014
ESCRT-II/Vps25 constrains digit number by endosome-mediated selective modulation of FGF-SHH signaling
Handschuh, K., Feenstra, J., Koss, M., Ferretti, E., Risolino, M., Zewdu, R., Sahai, M. A., Bénazet, J. D., Peng, X. P., Depew, M. J., Quintana, L., Sharpe, J., Wang, B., Alcorn, H., Rivi, R., Butcher, S., Robert Manak, J., Vaccari, T., Weinstein, H. & Anderson, K. V. & 2 others, , 2014, In: Cell Reports. 9, 2, p. 674-687 14 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2012
Foxp3 exploits a pre-existent enhancer landscape for regulatory T cell lineage specification
Samstein, R. M., Arvey, A., Josefowicz, S. Z., Peng, X., Reynolds, A., Sandstrom, R., Neph, S., Sabo, P., Kim, J. M., Liao, W., Li, M. O., Leslie, C., Stamatoyannopoulos, J. A. & Rudensky, A. Y., Sep 28 2012, In: Cell. 151, 1, p. 153-166 14 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2010
Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate
Zheng, Y., Josefowicz, S., Chaudhry, A., Peng, X. P., Forbush, K. & Rudensky, A. Y., Feb 11 2010, In: Nature. 463, 7282, p. 808-812 5 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2009
Bead-based profiling of tyrosine kinase phosphorylation identifies SRC as a potential target for glioblastoma therapy
Du, J., Bernasconi, P., Clauser, K. R., Mani, D. R., Finn, S. P., Beroukhim, R., Burns, M., Julian, B., Peng, X. P., Hieronymus, H., Maglathlin, R. L., Lewis, T. A., Liau, L. M., Nghiemphu, P., Mellinghoff, I. K., Louis, D. N., Loda, M., Carr, S. A., Kung, A. L. & Golub, T. R., Jan 25 2009, In: Nature biotechnology. 27, 1, p. 77-83 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2008
MicroRNA-Mediated Control of Cell Fate in Megakaryocyte-Erythrocyte Progenitors
Lu, J., Guo, S., Ebert, B. L., Zhang, H., Peng, X., Bosco, J., Pretz, J., Schlanger, R., Wang, J. Y., Mak, R. H., Dombkowski, D. M., Preffer, F. I., Scadden, D. T. & Golub, T. R., Jun 10 2008, In: Developmental Cell. 14, 6, p. 843-853 11 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Processing of G4 DNA by Dna2 helicase/nuclease and replication protein A (RPA) provides insights into the mechanism of Dna2/RPA substrate recognition
Masuda-Sasa, T., Polaczek, P., Peng, X. P., Chen, L. & Campbell, J. L., Sep 5 2008, In: Journal of Biological Chemistry. 283, 36, p. 24359-24373 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2006
Gene expression signature-based chemical genomic prediction identifies a novel class of HSP90 pathway modulators
Hieronymus, H., Lamb, J., Ross, K. N., Peng, X. P., Clement, C., Rodina, A., Nieto, M., Du, J., Stegmaier, K., Raj, S. M., Maloney, K. N., Clardy, J., Hahn, W. C., Chiosis, G. & Golub, T. R., Oct 2006, In: Cancer cell. 10, 4, p. 321-330 10 p.Research output: Contribution to journal › Article › peer-review
Open Access -
2005
A network of multi-tasking proteins at the DNA replication fork preserves genome stability
Budd, M. E., Tong, A. H. Y., Polaczek, P., Peng, X., Boone, C. & Campbell, J. L., 2005, In: PLoS genetics. 1, 6, p. 634-650 17 p.Research output: Contribution to journal › Article › peer-review
Open Access