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The Journal of Experimental Medicine|March 2, 2016
Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defectsRosita Rigoni, Elena Fontana, Simone Guglielmetti, et al.The American Journal of Pathology|January 1, 2003
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosisAnna Taranta, Silvia Migliaccio, Irene Recchia, et al.Stem Cells Translational Medicine|May 30, 2019
Gene Modification and Three-Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration ApproachesIleana Bortolomai, Monica Sandri, Elena Draghici, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 2, 2015
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive OsteopetrosisEleonora Palagano, Harry C Blair, Alessandra Pangrazio, et al.Blood Advances|September 21, 2021
Ablation of collagen VI leads to the release of platelets with altered functionVittorio Abbonante, Cristian Gruppi, Monica Battiston, et al.Nature Genetics|July 17, 2007
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKLCristina Sobacchi, Annalisa Frattini, Matteo M Guerrini, et al.The Journal of Allergy and Clinical Immunology|December 17, 2013
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndromeNiek P van Til, Roya Sarwari, Trudi P Visser, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 30, 2020
Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 MutantsEleonora Di Zanni, Eleonora Palagano, Laura Lagostena, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|July 28, 2012
Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARONadia Lo Iacono, Harry C Blair, Pietro L Poliani, et al.Frontiers in Immunology|November 29, 2023
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutationsMaria Carmina Castiello, Martina Di Verniere, Elena Draghici, et al.Pageof 17