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Anna Villa

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Samantha Scaramuzza; Manfred Schmidt; Elisa Vicenzi; Anna Villa; Christof von Kalle; Cynthia C Bartholomae; Fabrizio Benedicenti; Luca Biasco; Alessandra Biffi; Marita Bosticardo; Robbert Bredius; Maria C Castiello; Elena Draghici; Andrea Finocchi; Raisa J Hernandez; Mariana Loperfido; Eugenio Montini; Luigi Naldini; Marina Radrizzani; Marco Ranzani; Anna Ripamonti; Maria-Grazia Roncarolo; Monica Salomoni; Alessandro Aiuti
Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome.
Nadia Lo Iacono; Virginia Maina; Stefano Mantero; Veronica Marrella; Alessandra Pangrazio; Marianna Paulis; Pietro Luigi Poliani; Francesca Schena; Harry C Blair; Barbara Cassani; Laura Crisafulli; Fabio Facchetti; Francesca Ficara; Elena Fontana; Matteo M Guerrini; Antonio Inforzato; Paul Kostenuik; Elisabetta Traggiai; Serenella Valaperta; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.
M Catucci; Elena Draghici; M Locci; F Prete; Maria-Grazia Roncarolo; Alessandro Aiuti; F Benvenuti; M Bosticardo; M C Castiello; Anna Villa
Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome.

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All Publications

2013: Samantha Scaramuzza; Manfred Schmidt; Elisa Vicenzi; Anna Villa; Christof von Kalle; Cynthia C Bartholomae; Fabrizio Benedicenti; Luca Biasco; Alessandra Biffi; Marita Bosticardo; Robbert Bredius; Maria C Castiello; Elena Draghici; Andrea Finocchi; Raisa J Hernandez; Mariana Loperfido; Eugenio Montini; Luigi Naldini; Marina Radrizzani; Marco Ranzani; Anna Ripamonti; Maria-Grazia Roncarolo; Monica Salomoni; Alessandro Aiuti
Preclinical safety and efficacy of human CD34(+) cells transduced with lentiviral vector for the treatment of Wiskott-Aldrich syndrome.
Molecular therapy : the journal of the American Society of Gene Therapy 2013;21(1):175-84.
2012: Nadia Lo Iacono; Virginia Maina; Stefano Mantero; Veronica Marrella; Alessandra Pangrazio; Marianna Paulis; Pietro Luigi Poliani; Francesca Schena; Harry C Blair; Barbara Cassani; Laura Crisafulli; Fabio Facchetti; Francesca Ficara; Elena Fontana; Matteo M Guerrini; Antonio Inforzato; Paul Kostenuik; Elisabetta Traggiai; Serenella Valaperta; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2012;27(12):2501-10.
2012: M Catucci; Elena Draghici; M Locci; F Prete; Maria-Grazia Roncarolo; Alessandro Aiuti; F Benvenuti; M Bosticardo; M C Castiello; Anna Villa
Dendritic cell functional improvement in a preclinical model of lentiviral-mediated gene therapy for Wiskott-Aldrich syndrome.
Gene therapy 2012;19(12):1150-8.
2012: Alessandro Aiuti; Rosa Bacchetta; Reinhard Seger; Anna Villa; Marina Cavazzana-Calvo
Gene therapy for primary immunodeficiencies: Part 2.
Current opinion in immunology 2012;24(5):585-91.
2012: Alessandra Pangrazio; Waleed Al-Herz; Annalisa Frattini; Emanuela Maserati; Lucia Susani; Roberto Valli; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
Calcified tissue international 2012;91(4):250-4.
2012: Veronica Marrella; Marianna Paulis; Pietro Luigi Poliani; Francesca Schena; Elisabetta Traggiai; Paolo Vezzoni; Anna Casati; Barbara Cassani; Manuela Cominelli; Francesca Ficara; Elena Fontana; Fabio Grassi; Virginia Maina; Anna Villa
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.
Blood 2012;120(5):1005-14.
2012: Shruti Malu; Jesse Pena; Paul Tempst; Paolo Vezzoni; Anna Villa; Noritaka Adachi; Aneel K Aggarwal; Pablo De Ioannes; Hediye Erdjument-Bromage; Carlos R Escalante; Dailia Francis; Marsha Greene; Mary Hanna; Mikhail Kozlov; Aya Kurosawa; Patricia Cortes
Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs.
The Journal of experimental medicine 2012;209(5):955-63.
2012: Aisha V Sauer; Samantha Scaramuzza; Antonella Tabucchi; Elisabetta Traggiai; Anna Villa; Raisa Jofra Hernandez; Immacolata Brigida; Filippo Carlucci; Nicola Carriglio; Daniela Clavenna; Nicola Gagliani; Pietro Luigi Poliani; Maria-Grazia Roncarolo; Francesca Sanvito; Alessandro Aiuti
Alterations in the adenosine metabolism and CD39/CD73 adenosinergic machinery cause loss of Treg cell function and autoimmunity in ADA-deficient SCID.
Blood 2012;119(6):1428-39.
2012: Alessandra Pangrazio; Claire Schlack; Ansgar Schulz; D Strina; Ashok Vellodi; Paul Veys; Paolo Vezzoni; Anna Villa; Luca Zammataro; Barbara Cassani; Robert Chiesa; Julie Crockett; Anne Durandy; Angela Duthie; Alain Fischer; Matteo M Guerrini; Miep H Helfrich; Uwe Kornak; Nadia Lo Iacono; Veronica Marrella; David J Mellis; Despina Moshous; Cristina Sobacchi
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2012;27(2):342-51.
2012: Marco Catucci; Francesca Pala; Marita Bosticardo; Maria Carmina Castiello; Anna Villa
Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma.
Frontiers in immunology 2012;3():209.
2011: Alessandra Pangrazio; Elke Piters; Eveline Boudin; Giuseppe Damante; Angela Valentina D'Elia; Wim Van Hul; Paolo Vezzoni; Anna Villa; Nadia Lo Iacono; Cristina Sobacchi
Identification of the first deletion in the LRP5 gene in a patient with autosomal dominant osteopetrosis type I.
Bone 2011;49(3):568-71.
2011: Marita Bosticardo; Elena Draghici; Francesca Schena; Aisha Vanessa Sauer; Elena Fontana; Maria Carmina Castiello; Marco Catucci; Michela Locci; Luigi Naldini; Alessandro Aiuti; Maria-Grazia Roncarolo; Pietro Luigi Poliani; Elisabetta Traggiai; Anna Villa
Lentiviral-mediated gene therapy leads to improvement of B-cell functionality in a murine model of Wiskott-Aldrich syndrome.
The Journal of allergy and clinical immunology 2011;127(6):1376-84.e5.
2010: giorgia mangili; Giovanna Scarfone; A Gadducci; C Sigismondi; G Ferrandina; G Scibilia; Riccardo Viganò; S Tateo; Anna Villa; D Lorusso
Is adjuvant chemotherapy indicated in stage I pure immature ovarian teratoma (IT)? A multicentre Italian trial in ovarian cancer (MITO-9).
Gynecologic oncology 2010;119(1):48-52.
2010: Barbara Cassani; Pietro Luigi Poliani; Veronica Marrella; Francesca Schena; Aisha V Sauer; Maria Ravanini; Dario Strina; Christian E Busse; Stephan Regenass; Hedda Wardemann; Alberto Martini; Fabio Facchetti; Mirjam van der Burg; Antonius G Rolink; Paolo Vezzoni; Fabio Grassi; Elisabetta Traggiai; Anna Villa
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome.
The Journal of experimental medicine 2010;207(7):1525-40.
2010: Eliane Chouery; Alessandra Pangrazio; Annalisa Frattini; Anna Villa; Liesbeth Van Wesenbeeck; Elke Piters; Wim Van Hul; Fraser Coxon; Tabitha Schouten; Miep H Helfrich; Gérard Lefranc; André Mégarbané
A new familial sclerosing bone dysplasia.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2010;25(3):676-80.
2010: Pietro Luigi Poliani; Kai Kisand; Veronica Marrella; Maria Ravanini; Luigi Daniele Notarangelo; Anna Villa; Pärt Peterson; Fabio Facchetti
Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
The American journal of pathology 2010;176(3):1104-12.
2010: Sara Trifari; Samantha Scaramuzza; Marco Catucci; Maurilio Ponzoni; Luca Mollica; Robert Chiesa; Federica Cattaneo; Fanny Lafouresse; Ronan Calvez; william vermi; Daniela Medicina; Maria Carmina Castiello; Francesco Marangoni; Marita Bosticardo; Claudio Doglioni; Maurizio Caniglia; Alessandro Aiuti; Anna Villa; Maria-Grazia Roncarolo; Loïc Dupré
Revertant T lymphocytes in a patient with Wiskott-Aldrich syndrome: analysis of function and distribution in lymphoid organs.
The Journal of allergy and clinical immunology 2010;125(2):439-448.e8.
2010: Barbara Cassani; Pietro Luigi Poliani; Daniele Moratto; Cristina Sobacchi; Veronica Marrella; Laura Imperatori; Donatella Vairo; Alessandro Plebani; Silvia Giliani; Paolo Vezzoni; Fabio Facchetti; Fulvio Porta; Luigi D Notarangelo; Anna Villa; Raffaele Badolato
Defect of regulatory T cells in patients with Omenn syndrome.
The Journal of allergy and clinical immunology 2010;125(1):209-16.
2010: Alessandra Pangrazio; Michael Pusch; Elena Caldana; Annalisa Frattini; Edoardo Lanino; Parag M Tamhankar; Shubha Phadke; Antonio Gonzalez Meneses Lopez; Paul J Orchard; Ercan Mihci; Mario Abinun; Michael Wright; Kim Vettenranta; Ivo Bariae; Daniela Melis; Ilhan Tezcan; Clarisse Baumann; Franco Locatelli; Marco Zecca; Edwin Horwitz; Lamia Sfaihi Ben Mansour; Mirjam Van Roij; Paolo Vezzoni; Anna Villa; Cristina Sobacchi
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations.
Human mutation 2010;31(1):E1071-80.
2009: Aisha V Sauer; Emanuela Mrak; Raisa Jofra Hernandez; Elena Zacchi; Francesco Cavani; Monica Casiraghi; Eyal Grunebaum; Chaim M Roifman; Maria C Cervi; alessandro ambrosi; Filippo Carlucci; Maria-Grazia Roncarolo; Anna Villa; Alessandro Rubinacci; Alessandro Aiuti
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency.
Blood 2009;114(15):3216-26.
2009: Pietro Luigi Poliani; Fabio Facchetti; Maria Ravanini; Andrew Richard Gennery; Anna Villa; Chaim M Roifman; Luigi D Notarangelo
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Blood 2009;114(1):105-8.
2009: Thorsten Schinke; Arndt F Schilling; Anke Baranowsky; Sebastian Seitz; Robert P Marshall; Tilman Linn; Michael Blaeker; Antje K Huebner; Ansgar Schulz; Ronald Simon; Matthias Gebauer; Matthias Priemel; Uwe Kornak; Sandra Perkovic; Florian Barvencik; F Timo Beil; Andrea Del Fattore; Annalisa Frattini; Thomas Streichert; Klaus Pueschel; Anna Villa; Klaus-Michael Debatin; Johannes M Rueger; Anna Teti; Jozef Zustin; Guido Sauter; Michael Amling
Impaired gastric acidification negatively affects calcium homeostasis and bone mass.
Nature medicine 2009;15(6):674-81.
2009: Anna Villa; Matteo M Guerrini; Barbara Cassani; Alessandra Pangrazio; Cristina Sobacchi
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Calcified tissue international 2009;84(1):1-12.
2008: Anna Villa; Alessandra Pangrazio; Elena Caldana; Matteo Guerrini; Paolo Vezzoni; Annalisa Frattini; Cristina Sobacchi
Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation.
Cytotechnology 2008;58(1):57-62.
2008: Matteo M Guerrini; Cristina Sobacchi; Barbara Cassani; Mario Abinun; Sara S Kilic; Alessandra Pangrazio; Daniele Moratto; Evelina Mazzolari; Jill Clayton-Smith; Paul Orchard; Fraser Coxon; Miep H Helfrich; Julie Crockett; David Mellis; Ashok Vellodi; Ilhan Tezcan; Luigi D Notarangelo; Michael J Rogers; Paolo Vezzoni; Anna Villa; Annalisa Frattini
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
American journal of human genetics 2008;83(1):64-76.
2008: Anna Villa; Veronica Marrella; Francesca Rucci; Luigi D Notarangelo
Genetically determined lymphopenia and autoimmune manifestations.
Current opinion in immunology 2008;20(3):318-24.
2008: Veronica Marrella; Pietro Luigi Poliani; Cristina Sobacchi; Fabio Grassi; Anna Villa
Of Omenn and mice.
Trends in immunology 2008;29(3):133-40.
2008: Ponpan Matangkasombut; Muriel Pichavant; Doris E Saez; Silvia Giliani; Evelina Mazzolari; Andrea Finocchi; Anna Villa; Cristina Sobacchi; Patricia Cortes; Dale T Umetsu; Luigi D Notarangelo
Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
Blood 2008;111(1):271-4.
2007: Cristina Sobacchi; Annalisa Frattini; Matteo M Guerrini; Mario Abinun; Alessandra Pangrazio; Lucia Susani; R G M Bredius; Grazia Mancini; Andrew Cant; Nick Bishop; Peter Stanislaw Grabowski; Andrea Del Fattore; Chiara Messina; Gabriella Errigo; Fraser Coxon; Debbie I Scott; Anna Teti; Michael J Rogers; Paolo Vezzoni; Anna Villa; Miep H Helfrich
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Nature genetics 2007;39(8):960-2.
2007: Veronica Marrella; Pietro Luigi Poliani; Anna Casati; Francesca Rucci; Laura Frascoli; Marie-lise GOUGEON; Brigitte Lemercier; Marita Bosticardo; Maria Ravanini; Manuela Battaglia; Maria Grazia Roncarolo; Marina Cavazzana-Calvo; Fabio Facchetti; Luigi D Notarangelo; Paolo Vezzoni; Fabio Grassi; Anna Villa
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
The Journal of clinical investigation 2007;117(5):1260-9.
2007: Noëlle Souraty; Peter Noun; Claudia Djambas-Khayat; Eliane Chouery; Alessandra Pangrazio; Anna Villa; Gérard Lefranc; Annalisa Frattini; André Mégarbané
Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis.
European journal of medical genetics 2007;50(3):188-99.
2007: Liesbeth Van Wesenbeeck; Paul R Odgren; Fraser Coxon; Annalisa Frattini; Pierre Moens; Bram Perdu; Carole A MacKay; Els Van Hul; Jean-Pierre Timmermans; Filip Vanhoenacker; Ruben Jacobs; Barbara Peruzzi; Anna Teti; Miep H Helfrich; Michael J Rogers; Anna Villa; Wim Van Hul
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
The Journal of clinical investigation 2007;117(4):919-30.
2006: Cristina Sobacchi; Veronica Marrella; Francesca Rucci; Paolo Vezzoni; Anna Villa
RAG-dependent primary immunodeficiencies.
Human mutation 2006;27(12):1174-84.
2006: Francesca Rucci; Leonardo Cattaneo; Veronica Marrella; Maria Grazia Sacco; Cristina Sobacchi; Franco Lucchini; Stefania Nicola; Silvia Della Bella; Maria Luisa Villa; Luisa Imberti; Francesca Gentili; Cristina Montagna; Cecilia Tiveron; Laura Tatangelo; Fabio Facchetti; Paolo Vezzoni; Anna Villa
Tissue-specific sensitivity to AID expression in transgenic mouse models.
Gene 2006;377():150-8.
2006: Alessandra Pangrazio; Pietro Luigi Poliani; André Megarbane; Gérard Lefranc; Edoardo Lanino; Maja Di Rocco; Francesca Rucci; Franco Lucchini; Maria Ravanini; Fabio Facchetti; Mario Abinun; Paolo Vezzoni; Anna Villa; Annalisa Frattini
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2006;21(7):1098-105.
2005: Ulrika Pettersson; Omar Albagha; Max Mirolo; Anna Taranta; Annalisa Frattini; Fiona E A McGuigan; Paolo Vezzoni; Anna Teti; Wim Van Hul; David M Reid; Anna Villa; Stuart H Ralston
Polymorphisms of the CLCN7 gene are associated with BMD in women.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2005;20(11):1960-7.
2005: Annalisa Frattini; Harry C Blair; Maria Grazia Sacco; Francesco Cerisoli; Francesca Faggioli; Enrica Mira Catò; Alessandra Pangrazio; Antonio Musio; Francesca Rucci; Cristina Sobacchi; Allison C Sharrow; Sara E Kalla; Maria Grazia Bruzzone; Roberto Colombo; M Cristina Magli; Paolo Vezzoni; Anna Villa
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(41):14629-34.
2005: Annabel N Smith; François Jouret; Sharyn Bord; Katherine Borthwick; Rafia S Al-Lamki; Carsten A Wagner; Deborah C Ireland; Valérie Cormier-Daire; Annalisa Frattini; Anna Villa; Uwe Kornak; Olivier Devuyst; Fiona E Karet
Vacuolar H+-ATPase d2 subunit: molecular characterization, developmental regulation, and localization to specialized proton pumps in kidney and bone.
Journal of the American Society of Nephrology : JASN 2005;16(5):1245-56.
2005: Antonio Musio; Veronica Marrella; Cristina Sobacchi; Francesca Rucci; Laura Fariselli; Silvia Giliani; Gaetana Lanzi; Luigi D Notarangelo; Domenico Delia; Roberto Colombo; Paolo Vezzoni; Anna Villa
Damaging-agent sensitivity of Artemis-deficient cell lines.
European journal of immunology 2005;35(4):1250-6.
2004: Lucia Susani; Alessandra Pangrazio; Cristina Sobacchi; Anna Taranta; Geert Mortier; Ravi Savarirayan; Anna Villa; Paul J Orchard; Paolo Vezzoni; Alberto Albertini; Annalisa Frattini; Franco Pagani
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Human mutation 2004;24(3):225-35.
2004: Harry C Blair; Christopher W Borysenko; Anna Villa; Paul H Schlesinger; Sara E Kalla; Beatrice B Yaroslavskiy; Verónica Garćia-Palacios; Jennifer I Oakley; Paul J Orchard
In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2004;19(8):1329-38.
2004: Cristina Sobacchi; Paolo Vezzoni; David M Reid; Fiona E A McGuigan; Annalisa Frattini; Max Mirolo; O M E Albhaga; Antonio Musio; Anna Villa; Stuart H Ralston
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women.
Calcified tissue international 2004;74(1):35-41.
2003: Annalisa Frattini; Alessandra Pangrazio; Lucia Susani; Cristina Sobacchi; Max Mirolo; Mario Abinun; Marino Andolina; Adrienne Flanagan; Edwin M Horwitz; Ercan Mihci; Luigi D Notarangelo; Ugo Ramenghi; Anna Teti; Johan L K Van Hove; Dragana Vujic; Terri Young; Alberto Albertini; Paul J Orchard; Paolo Vezzoni; Anna Villa
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003;18(10):1740-7.
2003: Antonio Musio; Cristina Montagna; Desirée Zambroni; Esterina Indino; Ottavia Barbieri; Lorenzo Citti; Anna Villa; Thomas Ried; Paolo Vezzoni
Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts.
Cancer research 2003;63(11):2855-63.
2002: Anna Villa; Cristina Sobacchi; Paolo Vezzoni
Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies.
The Israel Medical Association journal : IMAJ 2002;4(3):218-21.
2001: Anna Villa; Cristina Sobacchi; Paolo Vezzoni
Recombination activating gene and its defects.
Current opinion in allergy and clinical immunology 2001;1(6):491-5.
2001: Mauno Vihinen; Francisco X Arredondo-Vega; J L Casanova; A Etzioni; Silvia Giliani; L Hammarström; Michael S Hershfield; P G Heyworth; Amy P Hsu; A Lähdesmäki; Ilkka Lappalainen; Luigi D Notarangelo; Jennifer M Puck; W Reith; D Roos; R Fabian Schumacher; K Schwarz; Paolo Vezzoni; Anna Villa; Jouni Väliaho; C I Edvard Smith
Primary immunodeficiency mutation databases.
Advances in genetics 2001;43():103-88.
2000: S Santagata; CA Gomez; Cristina Sobacchi; F Bozzi; Mario Abinun; Srdjan Pasic; Patricia Cortes; Paolo Vezzoni; Anna Villa
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(26):14572-7.
2000: S Santagata; Anna Villa; Cristina Sobacchi; Patricia Cortes; Paolo Vezzoni
The genetic and biochemical basis of Omenn syndrome.
Immunological reviews 2000;178():64-74.
2000: Maria Grazia Sacco; M Ungari; Enrica Mira Catò; Anna Villa; D Strina; Luigi D Notarangelo; J Jonkers; Luigi Zecca; Fabio Facchetti; Paolo Vezzoni
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
Cancer gene therapy 2000;7(10):1299-306.
2000: Mauno Vihinen; Anna Villa; Patrizia Mella; R Fabian Schumacher; Gianfranco Savoldi; John O'Shea; Fabio Candotti; Luigi D Notarangelo
Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.
Clinical immunology (Orlando, Fla.) 2000;96(2):108-18.
2000: CA Gomez; L M Ptaszek; Anna Villa; F Bozzi; Cristina Sobacchi; E G Brooks; Luigi D Notarangelo; E Spanopoulou; Zhen-Qiang Pan; Paolo Vezzoni; Patricia Cortes; S Santagata
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Molecular and cellular biology 2000;20(15):5653-64.
2000: Annalisa Frattini; Paul J Orchard; Cristina Sobacchi; Silvia Giliani; Mario Abinun; JP Mattsson; DJ Keeling; A K Andersson; Pia Wallbrandt; Luigi Zecca; Luigi D Notarangelo; Paolo Vezzoni; Anna Villa
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
Nature genetics 2000;25(3):343-6.
2000: R Fabian Schumacher; Patrizia Mella; Raffaele Badolato; Maurilia Fiorini; Gianfranco Savoldi; Silvia Giliani; Anna Villa; Fabio Candotti; A Tampalini; John O'Shea; Luigi D Notarangelo
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
Human genetics 2000;106(1):73-9.
2000: Anna Villa; F Bozzi; Cristina Sobacchi; D Strina; A Fasth; Srdjan Pasic; Luigi D Notarangelo; Paolo Vezzoni
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Prenatal diagnosis 2000;20(1):56-9.
1999: S Santagata; Eva Besmer; Anna Villa; F Bozzi; John S Allingham; Cristina Sobacchi; David B Haniford; Paolo Vezzoni; Michel C Nussenzweig; Zhen-Qiang Pan; Patricia Cortes
The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination.
Molecular cell 1999;4(6):935-47.
1999: S Signorini; Luisa Imberti; Silvia Pirovano; Anna Villa; Fabio Facchetti; M Ungari; F Bozzi; Alberto Albertini; Alberto G Ugazio; Paolo Vezzoni; Luigi D Notarangelo
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome.
Blood 1999;94(10):3468-78.
1999: Maria Grazia Sacco; S Benedetti; Enrica Mira Catò; Mario Caniatti; Roberta Ceruti; Eugenio Scanziani; B Pirola; Anna Villa; Gaetano Finocchiaro; Paolo Vezzoni
Retrovirus-mediated IL-4 gene therapy in spontaneous adenocarcinomas from MMTV-neu transgenic mice.
Gene therapy 1999;6(11):1893-7.
1999: R Fabian Schumacher; Patrizia Mella; F Lalatta; Maurilia Fiorini; Silvia Giliani; Anna Villa; Fabio Candotti; Luigi D Notarangelo
Prenatal diagnosis of JAK3 deficient SCID.
Prenatal diagnosis 1999;19(7):653-6.
1999: Anna Villa; S Santagata; F Bozzi; Luisa Imberti; Luigi D Notarangelo
Omenn syndrome: a disorder of Rag1 and Rag2 genes.
Journal of clinical immunology 1999;19(2):87-97.
1998: F Bozzi; Gérard Lefranc; Anna Villa; Raffaele Badolato; R Fabian Schumacher; G Khalil; Jacques Loiselet; S Bresciani; John O'Shea; Paolo Vezzoni; Luigi D Notarangelo; Fabio Candotti
Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment.
British journal of haematology 1998;102(5):1363-6.
1998: Anna Villa; S Santagata; F Bozzi; Silvia Giliani; Annalisa Frattini; Luisa Imberti; L B Gatta; H D Ochs; K Schwarz; Luigi D Notarangelo; Paolo Vezzoni; E Spanopoulou
Partial V(D)J recombination activity leads to Omenn syndrome.
Cell 1998;93(5):885-96.
1998: Maria Grazia Sacco; Ottavia Barbieri; D Piccini; E Noviello; M Zoppé; Ileana Zucchi; Annalisa Frattini; Anna Villa; Paolo Vezzoni
In vitro and in vivo antisense-mediated growth inhibition of a mammary adenocarcinoma from MMTV-neu transgenic mice.
Gene therapy 1998;5(3):388-93.
1998: D Brugnoni; Luigi D Notarangelo; Alessandra Sottini; Paolo Airò; M Pennacchio; Evelina Mazzolari; S Signorini; Fabio Candotti; Anna Villa; Patrizia Mella; Paolo Vezzoni; Roberto Cattaneo; Alberto G Ugazio; Luisa Imberti
Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase.
Blood 1998;91(3):949-55.
1998: Maria Grazia Sacco; Laura Gribaldo; Ottavia Barbieri; G Turchi; Ileana Zucchi; Angelo Collotta; L Bagnasco; D Barone; Cristina Montagna; Anna Villa; Erminio Marafante; Paolo Vezzoni
Establishment and characterization of a new mammary adenocarcinoma cell line derived from MMTV neu transgenic mice.
Breast cancer research and treatment 1998;47(2):171-80.
1997: Fabio Candotti; S A Oakes; J A Johnston; Silvia Giliani; R Fabian Schumacher; Patrizia Mella; Maurilia Fiorini; Alberto G Ugazio; Raffaele Badolato; Luigi D Notarangelo; F Bozzi; P Macchi; D Strina; Paolo Vezzoni; R. Michael Blaese; John O'Shea; Anna Villa
Structural and functional basis for JAK3-deficient severe combined immunodeficiency.
Blood 1997;90(10):3996-4003.