Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis

Young‐Yun Kong, Hiroki Yoshida, Ildiko Sarosi et al. · Nature · 1999 · 3.4K citations

Medicine, Cell Biology, Immunology +14

Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice

Philippe Soriano, Charles A. Montgomery, Robert S. Geske et al. · Cell · 1991 · 2K citations

Medicine, Molecular Biology, Oncology +12

Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice

Paul Säftig, Ernst B. Hunziker, Olaf Wehmeyer et al. · Proceedings of the National Academy of Sciences · 1998 · 910 citations

Medicine, Cell Biology, Molecular Biology +17

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 885 citations

Life Sciences, Genetics, Molecular Genetics +13

Osteoclastic Bone Resorption by a Polarized Vacuolar Proton Pump

Harry C. Blair, Steven L. Teitelbaum, Robert W. Ghiselli et al. · Science · 1989 · 859 citations

Medicine, Biochemistry, Cell Biology +17