A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency
Abolhassani, Hassan, MD, Wang, Ning, PhD, Aghamohammadi, Asghar, MD, PhD, Rezaei, Nima, MD, PhD, Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Notarangelo, Luigi D., MD, Pan-Hammarström, Qiang, MD, PhD, Hammarström, Lennart, MD, PhD
Published in Journal of allergy and clinical immunology (01.12.2014)
Published in Journal of allergy and clinical immunology (01.12.2014)
Get full text
Journal Article
Next‐Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis
Henderson, Lauren A., Volpi, Stefano, Frugoni, Francesco, Janssen, Erin, Kim, Susan, Sundel, Robert P., Dedeoglu, Fatma, Lo, Mindy S., Hazen, Melissa M., Beth Son, Mary, Mathieu, Ronald, Zurakowski, David, Yu, Neng, Lebedeva, Tatiana, Fuhlbrigge, Robert C., Walter, Jolan E., Nee Lee, Yu, Nigrovic, Peter A., Notarangelo, Luigi D.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2016)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.07.2016)
Get full text
Journal Article
Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity
Henderson, Lauren A., MD, Frugoni, Francesco, MS, Hopkins, Gregory, BS, de Boer, Helen, BAS, Pai, Sung-Yun, MD, Lee, Yu Nee, PhD, Walter, Jolan E., MD, PhD, Hazen, Melissa M., MD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.10.2013)
Published in Journal of allergy and clinical immunology (01.10.2013)
Get full text
Journal Article
Human RAG mutations: biochemistry and clinical implications
Notarangelo, Luigi D, Kim, Min-Sung, Walter, Jolan E, Lee, Yu Nee
Published in Nature reviews. Immunology (01.04.2016)
Published in Nature reviews. Immunology (01.04.2016)
Get full text
Journal Article
Differential utilization of T cell receptor TCRα/TCRδ locus variable region gene segments is mediated by accessibility
Lee, Yu Nee, Alt, Frederick W, Reyes, Julia, Gleason, Megan, Zarrin, Ali A, Jung, David
Published in Proceedings of the National Academy of Sciences - PNAS (13.10.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (13.10.2009)
Get full text
Journal Article
Lessons in gene hunting: A RAG1 mutation presenting with agammaglobulinemia and absence of B cells
Hedayat, Mona, MD, Massaad, Michel J., PhD, Lee, Yu Nee, PhD, Conley, Mary Ellen, MD, Orange, Jordan S., MD, PhD, Ohsumi, Toshiro K., PhD, Al-Herz, Waleed, MD, Notarangelo, Luigi D., MD, Geha, Raif S., MD, Chou, Janet, MD
Published in Journal of allergy and clinical immunology (01.10.2014)
Published in Journal of allergy and clinical immunology (01.10.2014)
Get full text
Journal Article
Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B
Somech, Raz, Lev, Atar, Lee, Yu Nee, Simon, Amos J, Barel, Ortal, Schiby, Ginette, Avivi, Camila, Barshack, Iris, Rhodes, Michele, Yin, Jiejing, Wang, Minshi, Yang, Yibin, Rhodes, Jennifer, Marcus, Nufar, Garty, Ben-Zion, Stein, Jerry, Amariglio, Ninette, Rechavi, Gideon, Wiest, David L, Zhang, Yong
Published in The Journal of immunology (1950) (15.12.2017)
Published in The Journal of immunology (1950) (15.12.2017)
Get full text
Journal Article
Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype
Tirosh, Irit, Yamazaki, Yasuhiro, Frugoni, Francesco, Ververs, Francesca A., Allenspach, Eric J., Zhang, Yu, Burns, Siobhan, Al-Herz, Waleed, Noroski, Lenora, Walter, Jolan E., Gennery, Andrew R., van der Burg, Mirjam, Notarangelo, Luigi D., Lee, Yu Nee
Published in Journal of allergy and clinical immunology (01.02.2019)
Published in Journal of allergy and clinical immunology (01.02.2019)
Get full text
Journal Article
CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications
Allen, Daniel, Knop, Orli, Itkowitz, Bryan, Kalter, Nechama, Rosenberg, Michael, Iancu, Ortal, Beider, Katia, Lee, Yu Nee, Nagler, Arnon, Somech, Raz, Hendel, Ayal
Published in Nature communications (27.10.2023)
Published in Nature communications (27.10.2023)
Get full text
Journal Article
Identifying a common molecular mechanism for inhibition of MITF and STAT3 by PIAS3
Levy, Carmit, Lee, Yu-Nee, Nechushtan, Hovav, Schueler-Furman, Ora, Sonnenblick, Amir, Hacohen, Shelley, Razin, Ehud
Published in Blood (01.04.2006)
Published in Blood (01.04.2006)
Get full text
Journal Article
Immune and TRG repertoire signature of the thymus in Down syndrome patients
Rabinowicz, Shira, Lev, Atar, Lee, Yu Nee, Machnes-Maayan, Diti, Katz, Uriel, Vardi, Amir, Mishali, David, Somech, Raz
Published in Pediatric research (01.01.2021)
Published in Pediatric research (01.01.2021)
Get full text
Journal Article
Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire
Frizinsky, Shirly, Rechavi, Erez, Barel, Ortal, Najeeb, Rose H., Greenberger, Shoshana, Lee, Yu Nee, Simon, Amos J., Lev, Atar, Ma, Chi A., Sun, Guangping, Blackstone, Sarah A., Milner, Joshua D., Somech, Raz, Stauber, Tali
Published in Journal of clinical immunology (01.05.2019)
Published in Journal of clinical immunology (01.05.2019)
Get full text
Journal Article
Suppression of Microphthalmia Transcriptional Activity by Its Association with Protein Kinase C-interacting Protein 1 in Mast Cells
Razin, E, Zhang, Z C, Nechushtan, H, Frenkel, S, Lee, Y N, Arudchandran, R, Rivera, J
Published in The Journal of biological chemistry (26.11.1999)
Published in The Journal of biological chemistry (26.11.1999)
Get full text
Journal Article
Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs
Iancu, Ortal, Allen, Daniel, Knop, Orli, Zehavi, Yonathan, Breier, Dor, Arbiv, Adaya, Lev, Atar, Lee, Yu Nee, Beider, Katia, Nagler, Arnon, Somech, Raz, Hendel, Ayal
Published in Molecular therapy. Nucleic acids (14.03.2023)
Published in Molecular therapy. Nucleic acids (14.03.2023)
Get full text
Journal Article
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects
Lev, Atar, Lee, Yu Nee, Sun, Guangping, Hallumi, Enas, Simon, Amos J., Zrihen, Keren S., Levy, Shiran, Beit Halevi, Tal, Papazian, Maria, Shwartz, Neta, Somekh, Ido, Levy-Mendelovich, Sarina, Wolach, Baruch, Gavrieli, Ronit, Vernitsky, Helly, Barel, Ortal, Javasky, Elisheva, Stauber, Tali, Ma, Chi A., Zhang, Yuan, Amariglio, Ninette, Rechavi, Gideon, Hendel, Ayal, Yablonski, Deborah, Milner, Joshua D., Somech, Raz
Published in The Journal of experimental medicine (01.03.2021)
Published in The Journal of experimental medicine (01.03.2021)
Get full text
Journal Article
A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic Analysis
Greenberg-Kushnir, Noa, Lee, Yu Nee, Simon, Amos J., Lev, Atar, Marcus, Nufar, Abuzaitoun, Omar, Somech, Raz, Stauber, Tali
Published in Journal of clinical immunology (2020)
Published in Journal of clinical immunology (2020)
Get full text
Journal Article
Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices
Daley, Stephen R., Koay, Hui-Fern, Dobbs, Kerry, Bosticardo, Marita, Wirasinha, Rushika C., Pala, Francesca, Castagnoli, Riccardo, Rowe, Jared H., Ott de Bruin, Lisa M., Keles, Sevgi, Lee, Yu Nee, Somech, Raz, Holland, Steven M., Delmonte, Ottavia M., Draper, Debbie, Maxwell, Sandra, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Poliani, Pietro Luigi, Capo, Valentina, Villa, Anna, Godfrey, Dale I., Notarangelo, Luigi D.
Published in Journal of allergy and clinical immunology (01.07.2019)
Published in Journal of allergy and clinical immunology (01.07.2019)
Get full text
Journal Article
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency
Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Dobbs, Kerry, BS, Walter, Jolan E., MD, PhD, Giliani, Silvia, PhD, Gennery, Andrew R., MD, Al-Herz, Waleed, MD, Haddad, Elie, MD, PhD, LeDeist, Francoise, MD, PhD, Bleesing, Jack H., MD, PhD, Henderson, Lauren A., MD, Pai, Sung-Yun, MD, Nelson, Robert P., MD, El-Ghoneimy, Dalia H., MD, El-Feky, Reem A., MD, Reda, Shereen M., MD, PhD, Hossny, Elham, MD, PhD, Soler-Palacin, Pere, MD, Fuleihan, Ramsay L., MD, Patel, Niraj C., MD, Massaad, Michel J., PhD, Geha, Raif S., MD, Puck, Jennifer M., MD, Palma, Paolo, MD, Cancrini, Caterina, MD, Chen, Karin, MD, Vihinen, Mauno, PhD, Alt, Frederick W., PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.04.2014)
Published in Journal of allergy and clinical immunology (01.04.2014)
Get full text
Journal Article
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Felgentreff, Kerstin, MD, Lee, Yu Nee, PhD, Frugoni, Francesco, PhD, Du, Likun, PhD, van der Burg, Mirjam, PhD, Giliani, Silvia, PhD, Tezcan, Ilhan, MD, Reisli, Ismail, MD, Mejstrikova, Ester, MD, de Villartay, Jean-Pierre, PhD, Sleckman, Barry P., MD, PhD, Manis, John, MD, PhD, Notarangelo, Luigi D., MD
Published in Journal of allergy and clinical immunology (01.07.2015)
Published in Journal of allergy and clinical immunology (01.07.2015)
Get full text
Journal Article