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The Roles of Osteoprotegerin and Osteoprotegerin Ligand in the Paracrine Regulation of Bone Resorption

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RANK Is the Essential Signaling Receptor for Osteoclast Differentiation Factor in Osteoclastogenesis

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

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Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

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Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification

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CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

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The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes

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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

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Loss of the chloride channel ClC‐7 leads to lysosomal storage disease and neurodegeneration

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ClC-7 requires Ostm1 as a β-subunit to support bone resorption and lysosomal function

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A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

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Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

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Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

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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 transgene

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The v-ATPase V 0 Subunit a1 Is Required for a Late Step in Synaptic Vesicle Exocytosis in Drosophila

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Genetics, pathogenesis and complications of osteopetrosis

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Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

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Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

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Rubicon controls endosome maturation as a Rab7 effector

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Lysosomal Pathology and Osteopetrosis upon Loss of H + -Driven Lysosomal Cl – Accumulation

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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans

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Osteoclast Activity and Subtypes as a Function of Physiology and Pathology—Implications for Future Treatments of Osteoporosis

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New developments in osteoimmunology

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ClC‐7 is a slowly voltage‐gated 2Cl−/1H+‐exchanger and requires Ostm1 for transport activity

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Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis

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The mutational spectrum of human malignant autosomal recessive osteopetrosis

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Autosomal Recessive Osteopetrosis: Variability of Findings at Diagnosis and During the Natural Course

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Osteoclasts promote the formation of hematopoietic stem cell niches in the bone marrow

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Chloride in Vesicular Trafficking and Function

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The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

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Risk of osteonecrosis of the jaw in cancer patients receiving denosumab: a meta-analysis of seven randomized controlled trials

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Impaired gastric acidification negatively affects calcium homeostasis and bone mass

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Endosomal Chloride-Proton Exchange Rather Than Chloride Conductance Is Crucial for Renal Endocytosis

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Molecular regulation of osteoclast activity

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The Amino-terminal Domain of the B Subunit of Vacuolar H+-ATPase Contains a Filamentous Actin Binding Site

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Neurological aspects of osteopetrosis

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Osteoclasts are dispensable for hematopoietic stem cell maintenance and mobilization

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Inhibition of osteoclast function reduces hematopoietic stem cell numbers in vivo

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New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis

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Kindlin-3: a new gene involved in the pathogenesis of LAD-III

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Structural and Functional Insights of RANKL–RANK Interaction and Signaling

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SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway

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An SNX10 mutation causes malignant osteopetrosis of infancy

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Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

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Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide

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Genotype-Phenotype Relationship in Human ATP6i-Dependent Autosomal Recessive Osteopetrosis

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Advances in osteoclast biology resulting from the study of osteopetrotic mutations

Segovia‐Silvestre, T., Neutzsky-Wulff, A. V., Sørensen, M. G., Christiansen, C., Bollerslev, J., Karsdal, M. A., & Henriksen, K. (2008) · Human Genetics · doi:10.1007/s00439-008-0583-8 · Cited by 127 · see citing works

Animal models of osteopetrosis: the impact of recent molecular developments on novel strategies for the therapeutic intervention

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