Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations
- 1 July 2008
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (1) , 64-76
- https://doi.org/10.1016/j.ajhg.2008.06.015
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- RANK signals from CD4+3− inducer cells regulate development of Aire-expressing epithelial cells in the thymic medullaThe Journal of Experimental Medicine, 2007
- Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humansJournal of Clinical Investigation, 2007
- A Novel Method for Efficient Generation of Transfected Human OsteoclastsCalcified Tissue International, 2007
- Functional Identification of Three Receptor Activator of NF-κB Cytoplasmic Motifs Mediating Osteoclast Differentiation and FunctionJournal of Biological Chemistry, 2004
- In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment DefectsJournal of Bone and Mineral Research, 2004
- Phenotypic Characterization of Early Onset Paget's Disease of Bone Caused by a 27-bp Duplication in the TNFRSF11A GeneJournal of Bone and Mineral Research, 2003
- Loss of the ClC-7 Chloride Channel Leads to Osteopetrosis in Mice and ManCell, 2001
- Regulation of Peripheral Lymph Node Genesis by the Tumor Necrosis Factor Family Member TranceThe Journal of Experimental Medicine, 2000
- Diverse roles of the tumor necrosis factor family member TRANCE in skeletal physiology revealed by TRANCE deficiency and partial rescue by a lymphocyte-expressed TRANCE transgeneProceedings of the National Academy of Sciences, 2000
- Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisNature Genetics, 2000