Nonconventional Involvement of LysRS in the Molecular Mechanism of USF2 Transcriptional Activity in FcɛRI-Activated Mast Cells

Por Lee, Yu-Nee, Razin, Ehud
Publicado em 2005

Human RAG mutations: biochemistry and clinical implications

Por Notarangelo, Luigi D., Kim, Min-Sung, Walter, Jolan E., Lee, Yu Nee
Publicado no Nat Rev Immunol (2016)

Differential utilization of T cell receptor TCRα/TCRδ locus variable region gene segments is mediated by accessibility

Por Lee, Yu Nee, Alt, Frederick W., Reyes, Julia, Gleason, Megan, Zarrin, Ali A., Jung, David
Publicado em 2009

RAG1 reversion mosaicism in a patient with Omenn syndrome

Por Crestani, Elena, Choo, Sharon, Frugoni, Francesco, Lee, Yu Nee, Richards, Stephanie, Smart, Joanne, Notarangelo, Luigi D
Publicado em 2014

A Hypomorphic RAG1 Mutation Resulting in a Phenotype Resembling Common Variable Immunodeficiency

Por Abolhassani, Hassan, Wang, Ning, Aghamohammadi, Asghar, Rezaei, Nima, Lee, Yu Nee, Frugoni, Francesco, Notrangelo, Luigi D., Pan-Hammarström, Qiang, Hammarström, Lennart
Publicado no J Allergy Clin Immunol (2014)

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

Por Abraham, Roshini S., Recher, Mike, Giliani, Silvia, Walter, Jolan E., Lee, Yu Nee, Frugoni, Francesco, Maddox, Daniel E., Kirmani, Salman, Notarangelo, Luigi D.
Publicado em 2012

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes

Por de Bruin, Lisa Ott, Yang, Wei, Capuder, Kelly, Lee, Yu Nee, Antolini, Maddalena, Meyers, Robin, Gellert, Martin, Musunuru, Kiran, Manis, John, Notarangelo, Luigi
Publicado no Oncotarget (2016)

Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity

Por Henderson, Lauren A., Frugoni, Francesco, Hopkins, Gregory, de Boer, Helen, Pai, Sung-Yun, Lee, Yu Nee, Walter, Jolan E., Hazen, Melissa M., Notarangelo, Luigi D.
Publicado em 2013

Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

Por Hedayat, Mona, Massaad, Michel J., Lee, Yu Nee, Conley, Mary Ellen, Orange, Jordan S., Ohsumi, Toshiro K., Al-Herz, Waleed, Notarangelo, Luigi D., Geha, Raif S., Chou, Janet
Publicado em 2014

Ligase-4 deficiency causes distinctive immune abnormalities in asymptomatic individuals

Por Felgentreff, Kerstin, Baxi, Sachin N., Lee, Yu Nee, Dobbs, Kerry, Henderson, Lauren A., Csomos, Krisztian, Tsitsikov, Erdyni N., Armanios, Mary, Walter, Jolan E., Notarangelo, Luigi D.
Publicado no J Clin Immunol (2016)

Estimated disease incidence of RAG1/2 mutations: a case report and querying the Exome Aggregation Consortium

Por Kumánovics, Attila, Lee, Yu Nee, Close, Devin W., Coonrod, Emily M., Ujhazi, Boglarka, Chen, Karin, MacArthur, Daniel, Krivan, Gergely, Notarangelo, Luigi D., Walter, Jolan E.
Publicado no J Allergy Clin Immunol (2016)

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection

Por Dutmer, Cullen M., Asturias, Edwin J., Smith, Christiana, Dishop, Megan K., Schmid, D. Scott, Bellini, William J., Tirosh, Irit, Lee, Yu Nee, Notarangelo, Luigi D., Gelfand, Erwin W.
Publicado no J Clin Immunol (2015)

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

Por Felgentreff, Kerstin, Lee, Yu Nee, Frugoni, Francesco, Du, Likun, van der Burg, Mirjam, Giliani, Silvia, Tezcan, Ilhan, Reisli, Ismail, Mejstrikova, E, Villartay, JP, Sleckman, Barry P, Manis, John, Notarangelo, Luigi D
Publicado no J Allergy Clin Immunol (2015)

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

Por Walter, Jolan E., Lo, Mindy S., Kis-Toth, Katalin, Tirosh, Irit, Frugoni, Francesco, Lee, Yu Nee, Csomos, Krisztian, Chen, Karin, Pillai, Shiv, Dunham, Jonathan, Tsokos, George C., Prak, Eline T. Luning, Notarangelo, Luigi D
Publicado no J Allergy Clin Immunol (2014)

A novel homozygous mutation in Recombination Activating Gene 2 in two relatives with different clinical phenotypes: Omenn syndrome and Hyper-IgM syndrome

Por Chou, Janet, Hanna-Wakim, Rima, Tirosh, Irit, Kane, Jennifer, Fraulino, David, Lee, Yu Nee, Ghanem, Soha, Mahfouz, Iman, Mégarbané, André, Lefranc, Gérard, Inati, Adlette, Dbaibo, Ghassan, Giliani, Silvia, Notarangelo, Luigi D., Geha, Raif S., Massaad, Michel J.
Publicado em 2012

Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Por Buchbinder, David, Baker, Rebecca, Lee, Yu Nee, Ravell, Juan, Zhang, Yu, McElwee, Joshua, Nugent, Diane, Coonrod, Emily M., Durtschi, Jacob D., Augustine, Nancy H., Voelkerding, Karl V., Csomos, Krisztian, Rosen, Lindsey, Browne, Sarah, Walter, Jolan E., Notarangelo, Luigi D., Hill, Harry R., Kumánovics, Attila
Publicado no J Clin Immunol (2014)

Disruption of thrombocyte and T lymphocyte development by a mutation in ARPC1B

Por 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
Publicado no J Immunol (2017)

Next Generation Sequencing Reveals Restriction and Clonotypic Expansion of Regulatory T Cells in Juvenile Idiopathic Arthritis

Por Henderson, Lauren A., Volpi, Stefano, Frugoni, Francesco, Janssen, Erin, Kim, Susan, Sundel, Robert P., Dedeoglu, Fatma, Lo, Mindy S., Hazen, Melissa M., Son, Mary Beth, Mathieu, Ronald, Zurakowski, David, Yu, Neng, Lebedeva, Tatiana, Fuhlbrigge, Robert C., Walter, Jolan E., Lee, Yu Nee, Nigrovic, Peter A., Notarangelo, Luigi D.
Publicado no Arthritis Rheumatol (2016)

Abnormalities of T-cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity

Por Rowe, Jared H., Stadinski, Brian D., Henderson, Lauren A., de Bruin, Lisa Ott, Delmonte, Ottavia, Lee, Yu Nee, de la Morena, M. Teresa, Goyal, Rakesh K., Hayward, Anthony, Huang, Chiung-Hui, Kanariou, Maria, King, Alejandra, Kuijpers, Taco W., Soh, Jian Yi, Neven, Benedicte, Walter, Jolan E., Huseby, Eric S., Notarangelo, Luigi D.
Publicado no J Allergy Clin Immunol (2017)

Next Generation Sequencing Reveals Skewing of the T and B Cell Receptor Repertoires in Patients with Wiskott–Aldrich Syndrome

Por O’Connell, Amy E., Volpi, Stefano, Dobbs, Kerry, Fiorini, Claudia, Tsitsikov, Erdyni, de Boer, Helen, Barlan, Isil B., Despotovic, Jenny M., Espinosa-Rosales, Francisco J., Hanson, I. Celine, Kanariou, Maria G., Martínez-Beckerat, Roxana, Mayorga-Sirera, Alvaro, Mejia-Carvajal, Carmen, Radwan, Nesrine, Weiss, Aaron R., Pai, Sung-Yun, Lee, Yu Nee, Notarangelo, Luigi D.
Publicado em 2014