Search Results - "Francesca Rucci"

Corrigendum: Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency by Rucci, Francesca, Poliani, Pietro Luigi, Caraffi, Stefano, Paganini, Tiziana, Fontana, Elena, Giliani, Silvia, Alt, Frederick W, Notarangelo, Luigi Daniele

“…[This corrects the article DOI: 10.3389/fimmu.2011.00015.]…”
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Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency by Walter, Jolan E, Rucci, Francesca, Patrizi, Laura, Recher, Mike, Regenass, Stephan, Paganini, Tiziana, Keszei, Marton, Pessach, Itai, Lang, Philipp A, Poliani, Pietro Luigi, Giliani, Silvia, Al-Herz, Waleed, Cowan, Morton J, Puck, Jennifer M, Bleesing, Jack, Niehues, Tim, Schuetz, Catharina, Malech, Harry, DeRavin, Suk See, Facchetti, Fabio, Gennery, Andrew R, Andersson, Emma, Kamani, Naynesh R, Sekiguchi, JoAnn, Alenezi, Hamid M, Chinen, Javier, Dbaibo, Ghassan, ElGhazali, Gehad, Fontana, Adriano, Pasic, Srdjan, Detre, Cynthia, Terhorst, Cox, Alt, Frederick W, Notarangelo, Luigi D

“…The contribution of B cells to the pathology of Omenn syndrome and leaky severe combined immunodeficiency (SCID) has not been previously investigated. We have…”
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Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies by Pessach, Itai M., MD, PhD, Ordovas-Montanes, Jose, BA, Zhang, Shen-Ying, MD, Casanova, Jean-Laurent, MD, PhD, Giliani, Silvia, PhD, Gennery, Andrew R., MD, Al-Herz, Waleed, MD, Manos, Philip D., PhD, Schlaeger, Thorsten M., PhD, Park, In-Hyun, PhD, Rucci, Francesca, PhD, Agarwal, Suneet, MD, PhD, Mostoslavsky, Gustavo, MD, PhD, Daley, George Q., MD, Notarangelo, Luigi D., MD

“…Background The novel ability to epigenetically reprogram somatic cells into induced pluripotent stem cells (iPSCs) through the exogenous expression of…”
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Distinct pathogenic roles for resident and monocyte-derived macrophages in lupus nephritis by Richoz, Nathan, Tuong, Zewen K., Loudon, Kevin W., Patiño-Martínez, Eduardo, Ferdinand, John R., Portet, Anaïs, Bashant, Kathleen R., Thevenon, Emeline, Rucci, Francesca, Hoyler, Thomas, Junt, Tobias, Kaplan, Mariana J., Siegel, Richard M., Clatworthy, Menna R.

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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome by Marrella, Veronica, Poliani, Pietro Luigi, Casati, Anna, Rucci, Francesca, Frascoli, Laura, Gougeon, Marie-Lise, Lemercier, Brigitte, Bosticardo, Marita, Ravanini, Maria, Battaglia, Manuela, Roncarolo, Maria Grazia, Cavazzana-Calvo, Marina, Facchetti, Fabio, Notarangelo, Luigi D, Vezzoni, Paolo, Grassi, Fabio, Villa, Anna

“…Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes. Hypomorphic Rag mutations in humans,…”
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Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome by Rucci, Francesca, Notarangelo, Luigi D, Fazeli, Alex, Patrizi, Laura, Hickernell, Thomas, Paganini, Tiziana, Coakley, Kristen M, Detre, Cynthia, Keszei, Marton, Walter, Jolan E, Feldman, Lauren, Cheng, Hwei-Ling, Poliani, Pietro Luigi, Wang, Jing H, Balter, Barbara B, Recher, Mike, Andersson, Emma-Maria, Zha, Shan, Giliani, Silvia, Terhorst, Cox, Alt, Frederick W, Yan, Catherine T

“…DNA ligase IV (LIG4) is an essential component of the nonhomologous end-joining (NHEJ) repair pathway and plays a key role in V(D)J recombination. Hypomorphic…”
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Rescue of ATPa3-Deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation in utero by Frattini, Annalisa, Blair, Harry C., Maria Grazia Sacco, Cerisoli, Francesco, Francesca Faggioli, Enrica Mira Catò, Alessandra Pangrazio, Antonio Musio, Francesca Rucci, Sobacchi, Cristina, Allison C. Sharrow, Kalla, Sara E., Bruzzone, Maria Grazia, Roberto Colombo, Magli, Maria Cristina, Vezzoni, Paolo, Villa, Anna

“…Autosomal recessive osteopetrosis (ARO) is a paradigm for genetic diseases that cause severe, often irreversible, defects before birth. In ARO, osteoclasts…”
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Damaging‐agent sensitivity of Artemis‐deficient cell lines by Musio, Antonio, Marrella, Veronica, Sobacchi, Cristina, Rucci, Francesca, Fariselli, Laura, Giliani, Silvia, Lanzi, Gaetana, Notarangelo, Luigi D., Delia, Domenico, Colombo, Roberto, Vezzoni, Paolo, Villa, Anna

“…Defects in repairing double‐strand breaks can lead to genome instability and tumorigenesis. In humans, most T–B– severe combined immunodeficiencies (SCID) have…”
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Tissue-specific sensitivity to AID expression in transgenic mouse models by Rucci, Francesca, Cattaneo, Leonardo, Marrella, Veronica, Sacco, Maria Grazia, Sobacchi, Cristina, Lucchini, Franco, Nicola, Stefania, Bella, Silvia Della, Villa, Maria Luisa, Imberti, Luisa, Gentili, Francesca, Montagna, Cristina, Tiveron, Cecilia, Tatangelo, Laura, Facchetti, Fabio, Vezzoni, Paolo, Villa, Anna

“…Activation-induced cytidine deaminase (AID), an enzyme with homology to members of the APOBEC family, is involved in somatic hypermutation (SHM) of…”
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RAG-dependent primary immunodeficiencies by Sobacchi, Cristina, Marrella, Veronica, Rucci, Francesca, Vezzoni, Paolo, Villa, Anna

“…Mutations in recombination activating genes 1 and 2 (RAG1 and RAG2) cause a spectrum of severe immunodeficiencies ranging from classical T cell–B cell–severe…”
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PIT565, a First-in-Class Anti-CD19, Anti-CD3, Anti-CD2 Trispecific Antibody for the Treatment of B Cell Malignancies by Lu, Haihui, Oka, Adwait, Coulson, Michelle, Polli, Joseph Ryan, Aardalen, Kimberly, Ramones, Melissa, Walker, Dana B, Carrion, Ana, Alexander, Dylan, Klopfenstein, Matthieu, Akiyama, Masaki, Rucci, Francesca, Granda, Brian, Pastore, Alessandro

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Nano Plasma Membrane Vesicle‐Lipid Nanoparticle Hybrids for Enhanced Gene Delivery and Expression by Alter, Claudio Luca, Lotter, Claudia, Puligilla, Ramya Deepthi, Bolten, Jan Stephan, Sedzicki, Jaroslaw, Marchese, Jason, Schittny, Valentin, Rucci, Francesca, Beverly, Michael, Palivan, Cornelia G., Detampel, Pascal, Einfalt, Tomaž, Huwyler, Jörg

“…Abstract Lipid nanoparticles (LNPs) have emerged as the leading nonviral nucleic acid (NA) delivery system, gaining widespread attention for their use in…”
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Distinct pathogenic roles for resident and monocyte-derived macrophages in lupus nephritis by Richoz, Nathan, Tuong, Zewen K, Loudon, Kevin W, Patiño-Martínez, Eduardo, Ferdinand, John R, Portet, Anaïs, Bashant, Kathleen R, Thevenon, Emeline, Rucci, Francesca, Hoyler, Thomas, Junt, Tobias, Kaplan, Mariana J, Siegel, Richard M, Clatworthy, Menna R

“…Lupus nephritis is a serious complication of systemic lupus erythematosus, mediated by IgG immune complex (IC) deposition in kidneys, with limited treatment…”
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Distinct pathogenic roles for resident and monocyte-derived macrophages in lupus nephritis by Nathan Richoz, Zewen K. Tuong, Kevin W. Loudon, Eduardo Patiño-Martínez, John R. Ferdinand, Jorge Romo-Tena, Anaïs Portet, Kathleen R. Bashant, Emeline Thevenon, Francesca Rucci, Thomas Hoyler, Tobias Junt, Mariana J. Kaplan, Richard M. Siegel, Menna R. Clatworthy

“…Lupus nephritis is a serious complication of systemic lupus erythematosus, mediated by IgG immune complex (IC) deposition in kidneys, with limited treatment…”
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Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement by Pangrazio, Alessandra, Poliani, Pietro Luigi, Megarbane, André, Lefranc, Gérard, Lanino, Edoardo, Di Rocco, Maja, Rucci, Francesca, Lucchini, Franco, Ravanini, Maria, Facchetti, Fabio, Abinun, Mario, Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa

“…We report three novel osteopetrosis patients with OSTM1 mutations and review two that have been previously described. Our analysis suggests that OSTM1 defines…”
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Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency by Rucci, Francesca, Poliani, Pietro Luigi, Caraffi, Stefano, Paganini, Tiziana, Fontana, Elena, Giliani, Silvia, Alt, Frederick W, Notarangelo, Luigi Daniele

“…Lymphostromal cross-talk in the thymus is essential to allow generation of a diversified repertoire of T lymphocytes and to prevent autoimmunity by…”
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Genetically determined lymphopenia and autoimmune manifestations by Villa, Anna, Marrella, Veronica, Rucci, Francesca, Notarangelo, Luigi D

“…Hypomorphic defects of V(D)J recombination in humans lead to residual T cell development. In these lymphopenic conditions, homeostatic lymphocyte proliferation…”
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Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis by Prinetti, Alessandro, Rocchetta, Federica, Costantino, Elvira, Frattini, Annalisa, Caldana, Elena, Rucci, Francesca, Bettiga, Arianna, Poliani, Pietro L, Chigorno, Vanna, Sonnino, Sandro

“…The grey-lethal mouse (gl/gl) mutant most closely resembles the severe human malignant autosomal recessive OSTM1-dependent form of osteopetrosis that it has…”
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Defects of B Cell Tolerance and Expansion of Immunoglobulin Secreting Cells in Rag-dependent Immunodeficiency by Walter, Jolan, Rucci, Francesca, Detre, Cynthia, Patrizi, Laura, Recher, Mike, Keszei, Marton, Pessach, Itai, Lang, Philipp, Regenass, Stephan, Sekiguchi, JoAnn, Alt, Frederick, Notarangelo, Luigi

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F.121. B Cell-mediated Autoimmunity in Hypomorphic rag1 and lig4 Mouse Mutants as Models for Human Leaky SCID by Walter, Jolan, Rucci, Francesca, Patrizi, Laura, Andersson, Emma-Maria, Keszei, Marton, Yan, Catherine, Gavanescu, Irina, Poliani, Pietro, Sekiguchi, JoAnn, Alt, Frederick, Notarangelo, Luigi

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