osteopetrosis

Summary

Summary: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).

Top Publications

  1. Sobacchi C, Schulz A, Coxon F, Villa A, Helfrich M. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013;9:522-36 pubmed publisher
    b>Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in osteoclast formation and function...
  2. Sugatani T, Hruska K. Impaired micro-RNA pathways diminish osteoclast differentiation and function. J Biol Chem. 2009;284:4667-78 pubmed publisher
    ..In vivo, CD11b(+)-cre/Dicer-null mice had mild osteopetrosis caused by decreased osteoclast number and bone resorption...
  3. Segovia Silvestre T, Neutzsky Wulff A, Sorensen M, Christiansen C, Bollerslev J, Karsdal M, et al. Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet. 2009;124:561-77 pubmed publisher
    b>Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption...
  4. Josephsen K, Praetorius J, Frische S, Gawenis L, Kwon T, Agre P, et al. Targeted disruption of the Cl-/HCO3- exchanger Ae2 results in osteopetrosis in mice. Proc Natl Acad Sci U S A. 2009;106:1638-41 pubmed publisher
    ..seems prerequisite for bone resorption, because genetic disruption of either of these proteins leads to osteopetrosis. We aimed to complete the molecular model for lacunar acidification, hypothesizing that a HCO(3)(-) extruding ..
  5. Askmyr M, Holmberg J, Flores C, Ehinger M, Hjalt T, Richter J. Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. Exp Hematol. 2009;37:302-8 pubmed publisher
    Infantile malignant osteopetrosis is a fatal disease caused by lack of functional osteoclasts. In most of patients, TCIRG1, encoding a subunit of a proton pump essential for bone resorption, is mutated...
  6. Marx R, Sawatari Y, Fortin M, Broumand V. Bisphosphonate-induced exposed bone (osteonecrosis/osteopetrosis) of the jaws: risk factors, recognition, prevention, and treatment. J Oral Maxillofac Surg. 2005;63:1567-75 pubmed
  7. Landa J, Margolis N, Di Cesare P. Orthopaedic management of the patient with osteopetrosis. J Am Acad Orthop Surg. 2007;15:654-62 pubmed
    b>Osteopetrosis is a sclerosing bone dysplasia characterized by hard, brittle bone secondary to dysfunctional osteoclast resorption...
  8. Jansen I, Mardones P, Lecanda F, de Vries T, Recalde S, Hoeben K, et al. Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria. FASEB J. 2009;23:3470-81 pubmed publisher
    ..Possibly, this might compensate for the absence of Ae2 in calvaria osteoclasts of Ae2(a,b)(-/-) mice. ..
  9. Krithika C, Neelakandan R, Sivapathasundaram B, Koteeswaran D, Rajaram P, Shetkar G. Osteopetrosis-associated osteomyelitis of the jaws: a report of 4 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108:e56-65 pubmed publisher
    b>Osteopetrosis represents a heterogeneous group of rare, hereditary bone disorders with variable clinical features and an increase in bone density...
  10. Waguespack S, Koller D, White K, Fishburn T, Carn G, Buckwalter K, et al. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res. 2003;18:1513-8 pubmed
    ..Autosomal dominant osteopetrosis, type II (ADO2) is an uncommon sclerosing bone disorder with a distinct radiographic appearance and unique ..

Detail Information

Publications97

  1. Sobacchi C, Schulz A, Coxon F, Villa A, Helfrich M. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013;9:522-36 pubmed publisher
    b>Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in osteoclast formation and function...
  2. Sugatani T, Hruska K. Impaired micro-RNA pathways diminish osteoclast differentiation and function. J Biol Chem. 2009;284:4667-78 pubmed publisher
    ..In vivo, CD11b(+)-cre/Dicer-null mice had mild osteopetrosis caused by decreased osteoclast number and bone resorption...
  3. Segovia Silvestre T, Neutzsky Wulff A, Sorensen M, Christiansen C, Bollerslev J, Karsdal M, et al. Advances in osteoclast biology resulting from the study of osteopetrotic mutations. Hum Genet. 2009;124:561-77 pubmed publisher
    b>Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of osteopetrosis have provided instrumental information on bone remodeling, including the coupling of bone formation to bone resorption...
  4. Josephsen K, Praetorius J, Frische S, Gawenis L, Kwon T, Agre P, et al. Targeted disruption of the Cl-/HCO3- exchanger Ae2 results in osteopetrosis in mice. Proc Natl Acad Sci U S A. 2009;106:1638-41 pubmed publisher
    ..seems prerequisite for bone resorption, because genetic disruption of either of these proteins leads to osteopetrosis. We aimed to complete the molecular model for lacunar acidification, hypothesizing that a HCO(3)(-) extruding ..
  5. Askmyr M, Holmberg J, Flores C, Ehinger M, Hjalt T, Richter J. Low-dose busulphan conditioning and neonatal stem cell transplantation preserves vision and restores hematopoiesis in severe murine osteopetrosis. Exp Hematol. 2009;37:302-8 pubmed publisher
    Infantile malignant osteopetrosis is a fatal disease caused by lack of functional osteoclasts. In most of patients, TCIRG1, encoding a subunit of a proton pump essential for bone resorption, is mutated...
  6. Marx R, Sawatari Y, Fortin M, Broumand V. Bisphosphonate-induced exposed bone (osteonecrosis/osteopetrosis) of the jaws: risk factors, recognition, prevention, and treatment. J Oral Maxillofac Surg. 2005;63:1567-75 pubmed
  7. Landa J, Margolis N, Di Cesare P. Orthopaedic management of the patient with osteopetrosis. J Am Acad Orthop Surg. 2007;15:654-62 pubmed
    b>Osteopetrosis is a sclerosing bone dysplasia characterized by hard, brittle bone secondary to dysfunctional osteoclast resorption...
  8. Jansen I, Mardones P, Lecanda F, de Vries T, Recalde S, Hoeben K, et al. Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria. FASEB J. 2009;23:3470-81 pubmed publisher
    ..Possibly, this might compensate for the absence of Ae2 in calvaria osteoclasts of Ae2(a,b)(-/-) mice. ..
  9. Krithika C, Neelakandan R, Sivapathasundaram B, Koteeswaran D, Rajaram P, Shetkar G. Osteopetrosis-associated osteomyelitis of the jaws: a report of 4 cases. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;108:e56-65 pubmed publisher
    b>Osteopetrosis represents a heterogeneous group of rare, hereditary bone disorders with variable clinical features and an increase in bone density...
  10. Waguespack S, Koller D, White K, Fishburn T, Carn G, Buckwalter K, et al. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res. 2003;18:1513-8 pubmed
    ..Autosomal dominant osteopetrosis, type II (ADO2) is an uncommon sclerosing bone disorder with a distinct radiographic appearance and unique ..
  11. Xue Y, Wang W, Mao T, Duan X. Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia. J Craniomaxillofac Surg. 2012;40:416-20 pubmed publisher
    b>Osteopetrosis is a group of genetic bone disorders...
  12. Odgren P, Kim N, MacKay C, Mason Savas A, Choi Y, Marks S. The role of RANKL (TRANCE/TNFSF11), a tumor necrosis factor family member, in skeletal development: effects of gene knockout and transgenic rescue. Connect Tissue Res. 2003;44 Suppl 1:264-71 pubmed
    ..RANKL-null mice exhibit severe osteopetrosis, no tooth eruption, markedly reduced skeletal growth, and growth plate chondrodystrophy...
  13. Mocsai A, Humphrey M, Van Ziffle J, Hu Y, Burghardt A, Spusta S, et al. The immunomodulatory adapter proteins DAP12 and Fc receptor gamma-chain (FcRgamma) regulate development of functional osteoclasts through the Syk tyrosine kinase. Proc Natl Acad Sci U S A. 2004;101:6158-63 pubmed
    ..These results provide new insight into the biology of osteoclasts and suggest novel therapeutic targets in diseases of bony remodeling. ..
  14. Besbas N, Draaken M, Ludwig M, Deren O, Orhan D, Bilginer Y, et al. A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. Eur J Pediatr. 2009;168:1449-54 pubmed publisher
    b>Osteopetrosis is a bone disease characterized by osteoclast failure and impaired bone resorption...
  15. Kawata T, Tsutsui K, Kohno S, Kaku M, Fujita T, Tenjou K, et al. Amyloid beta protein deposition in osteopetrotic (op/op) mice is reduced by injections of macrophage colony stimulating factor. J Int Med Res. 2005;33:654-60 pubmed
    ..Animals with the osteopetrosis (op/op) mutation suffer from a general skeletal sclerosis, a significantly reduced number of macrophages and ..
  16. Nuss K, Spiess A, Hilbe M, Sterr K, Reiser M, Matis U. Transient benign osteopetrosis in a calf persistently infected with bovine virus diarrhoea virus. Vet Comp Orthop Traumatol. 2005;18:100-4 pubmed
    ..The radiographic abnormalities seen in this case are similar to those of the transient form of osteopetrosis in humans...
  17. Al Tamimi Y, Tyagi A, Chumas P, Crimmins D. Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatr. 2008;1:103-6 pubmed publisher
    b>Osteopetrosis is a heterogeneous group of disorders characterized by abnormal bone sclerosis. As a result, patients often require input regarding various neurological complications...
  18. Dlouhy B, Menezes A. Osteopetrosis with Chiari I malformation: presentation and surgical management. J Neurosurg Pediatr. 2011;7:369-74 pubmed publisher
    b>Osteopetrosis is a heterogeneous group of rare, inherited disorders of the skeleton that results in neurological manifestations due to restriction of growth of cranial foramina and calvarial thickening...
  19. Shinohara M, Nakamura M, Masuda H, Hirose J, Kadono Y, Iwasawa M, et al. Class IA phosphatidylinositol 3-kinase regulates osteoclastic bone resorption through protein kinase B-mediated vesicle transport. J Bone Miner Res. 2012;27:2464-75 pubmed publisher
    ..Thus, the class IA PI3K-Akt pathway regulates the cellular machinery crucial for osteoclastic bone resorption, and may provide a molecular basis for therapeutic strategies against bone diseases...
  20. Tabrizi R, Arabi A, Arabion H, Gholami M. Jaw osteomyelitis as a complication in osteopetrosis. J Craniofac Surg. 2010;21:136-41 pubmed publisher
    b>Osteopetrosis is a rare bone dysplasia. The disease is characterized by osteoclast dysfunction, producing diffuse symmetrical increase in skeletal bone density and exhibiting various clinical manifestation because of heterogeneous entity...
  21. de Oliveira H, Pereira Filho V, Gabrielli M, Gabrielli M, Vieira E. Marginal resection for treatment of mandibular osteomyelitis associated with osteopetrosis: case report. J Craniomaxillofac Surg. 2011;39:525-9 pubmed publisher
    b>Osteopetrosis (OP) is a rare hereditary disorder characterized by a dysfunction of the osteoclasts that impairs bone resorption, which together with the normal osteoblastic activity forms intense bone sclerosis with reduction of marrow...
  22. Dabovic B, Levasseur R, Zambuto L, Chen Y, Karsenty G, Rifkin D. Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice. Bone. 2005;37:25-31 pubmed
    ..We hypothesize that lack of Ltbp-3 results in decreased levels of TGF-beta in bone and cartilage, which leads to compromised osteoclast function and decreased bone turnover. ..
  23. Douni E, Rinotas V, Makrinou E, Zwerina J, Penninger J, Eliopoulos E, et al. A RANKL G278R mutation causing osteopetrosis identifies a functional amino acid essential for trimer assembly in RANKL and TNF. Hum Mol Genet. 2012;21:784-98 pubmed publisher
    ..Functional mutations in RANKL lead to human autosomal recessive osteopetrosis (ARO), whereas RANKL overexpression has been implicated in the pathogenesis of bone degenerative diseases such ..
  24. Campeau P, Lu J, Sule G, Jiang M, Bae Y, Madan S, et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet. 2012;21:4904-9 pubmed publisher
    Dysosteosclerosis (DSS) is the form of osteopetrosis distinguished by the presence of skin findings such as red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses...
  25. Shah G, Bonapace G, Hu P, Strisciuglio P, Sly W. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat. 2004;24:272 pubmed
    The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification...
  26. Coudert A, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, et al. Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology. Lab Invest. 2014;94:275-85 pubmed publisher
    Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. Mutations in the CLCN7 gene have been reported to cause ADO II...
  27. Weinert S, Jabs S, Supanchart C, Schweizer M, Gimber N, Richter M, et al. Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science. 2010;328:1401-3 pubmed publisher
    ..However, their osteopetrosis was milder, and they lacked a coat color phenotype...
  28. Yarali N, Fisgin T, Duru F, Kara A. Osteopetrosis and Glanzmann's thrombasthenia in a child. Ann Hematol. 2003;82:254-6 pubmed
    Autosomal recessive osteopetrosis is a rare, fatal disease characterized by accumulation of excessive bone mass due to defective bone resorption. The pathogenesis of osteopetrosis is controversial...
  29. Pangrazio A, Cassani B, Guerrini M, Crockett J, Marrella V, Zammataro L, et al. RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. J Bone Miner Res. 2012;27:342-51 pubmed publisher
    Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts...
  30. Yamada T, Mishima K, Imura H, Ueno T, Matsumura T, Moritani N, et al. Osteomyelitis of the mandible secondary to infantile osteopetrosis: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2009;107:e25-9 pubmed publisher
    A case of infantile malignant osteopetrosis with refractory mandibular osteomyelitis is reported...
  31. Blin Wakkach C, Breuil V, Quincey D, Bagnis C, Carle G. Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice. Bone. 2006;39:53-60 pubmed
    Malignant infantile osteopetrosis is a rare and lethal disease characterized by the absence of bone resorption due to inactive osteoclasts (OCLs)...
  32. Sh Ali A, Al Mashta S. Cerebral calcification, osteopetrosis and renal tubular acidosis: is it carbonic anhydrase-II deficiency?. Saudi J Kidney Dis Transpl. 2013;24:561-5 pubmed
    Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal)...
  33. Chhabra A, Westerlund L, Kline A, McLaughlin R. Management of proximal femoral shaft fractures in osteopetrosis: a case series using internal fixation. Orthopedics. 2005;28:587-92 pubmed
    b>Osteopetrosis is a group of rare sclerosing bone dysplasias...
  34. Nicholls B, Bredius R, Hamdy N, Gerritsen E, Lankester A, Hogendoorn P, et al. Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. J Bone Miner Res. 2005;20:2264-70 pubmed
    We report on a case of osteoclast-poor osteopetrosis who received a hematopoietic stem cell graft and, despite hematological engraftment, showed little signs of response in the skeletal defect...
  35. Luzzi V, Consoli G, Daryanani V, Santoro G, Sfasciotti G, Polimeni A. Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports. Eur J Paediatr Dent. 2006;7:39-44 pubmed
    Malignant Infantile Osteopetrosis is a hereditary pathology caused due to osteoclastic cells which are incapable of carrying out their functions and hence do not resorb osseous tissue where required...
  36. Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med. 2003;9:399-406 pubmed
    ..is responsible for a coat color defect and for the development of the most severe autosomal recessive form of osteopetrosis. Using a positional cloning approach, we have mapped and isolated the gl locus from a approximately 1...
  37. Kaku M, Tsutsui K, Motokawa M, Kawata T, Fujita T, Kohno S, et al. Amyloid beta protein deposition and neuron loss in osteopetrotic (op/op) mice. Brain Res Brain Res Protoc. 2003;12:104-8 pubmed
    ..These results demonstrate that Abeta deposition influence neuron loss and it may be suspected that expression of SPs may be in part regulated by microglia under physiological conditions...
  38. Khan M, Datta P, Hasan M, Hossain M, Patwary K, Ferdous J. Osteopetrosis. Mymensingh Med J. 2011;20:715-8 pubmed
    ..Overlapping clinical features of both intermediate autosomal recessive and adult autosomal dominant variety of osteopetrosis were found in this patient but diagnosis were made on the basis of typical radiological finding which was ..
  39. Krimmel M, Niemann G, Will B, Reinert S. Surgical correction of craniosynostosis in malignant osteopetrosis. J Craniofac Surg. 2004;15:218-20; discussion 221 pubmed
    In osteopetrosis, bone healing is complicated by progressive sclerosis. A 2-year-old blind boy with malignant osteopetrosis developed increased intracranial pressure secondary to craniosynostosis...
  40. Kaste S, Kasow K, Horwitz E. Quantitative bone mineral density assessment in malignant infantile osteopetrosis. Pediatr Blood Cancer. 2007;48:181-5 pubmed
    To investigate the use of quantitative computed tomography (QCT) and dual energy absorptiometry (DXA) for assessing bone mineral density (BMD) in the evaluation of children with malignant infantile osteopetrosis (MIOP).
  41. Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008;42:19-29 pubmed
    Human osteopetrosis is a rare genetic disorder caused by osteoclast failure, which ranges widely in severity...
  42. Kulkarni M, Marakkanavar S, Sushanth S, Pradeep N, Ashok C, Balaji M, et al. Osteopetrosis with Arnold Chiari malformation type I and brain stem compression. Indian J Pediatr. 2007;74:412-5 pubmed
    b>Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts...
  43. Jaing T, Hou J, Chen S, Huang I, Wang C, Lee W. Successful unrelated mismatched cord blood transplantation in a child with malignant infantile osteopetrosis. Pediatr Transplant. 2006;10:629-31 pubmed
    Allogeneic hematopoietic stem cell transplantation represents the only curative option for malignant infantile osteopetrosis (MIOP), a rare disease of infants and young children, characterized by excessive accumulation of mineralized ..
  44. Del Fattore A, Fornari R, Van Wesenbeeck L, de Freitas F, Timmermans J, Peruzzi B, et al. A new heterozygous mutation (R714C) of the osteopetrosis gene, pleckstrin homolog domain containing family M (with run domain) member 1 (PLEKHM1), impairs vesicular acidification and increases TRACP secretion in osteoclasts. J Bone Miner Res. 2008;23:380-91 pubmed
    ..Plekhm1 is involved in osteoclast endosomal vesicle acidification and TRACP exocytosis, contributing to events involved in osteoclast-osteoblast cross-talk...
  45. Kapur R, Yao Z, Iida M, Clarke C, Doggett B, Xing L, et al. Malignant autosomal recessive osteopetrosis caused by spontaneous mutation of murine Rank. J Bone Miner Res. 2004;19:1689-97 pubmed
    We report the first case of lethal autosomal recessive osteopetrosis in mice caused by a spontaneous 8-bp deletion in exon 2 of the Rank gene...
  46. Shinohara M, Koga T, Okamoto K, Sakaguchi S, Arai K, Yasuda H, et al. Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals. Cell. 2008;132:794-806 pubmed publisher
    ..Here we report that mice lacking the tyrosine kinases Btk and Tec show severe osteopetrosis caused by a defect in bone resorption...
  47. Blin Wakkach C, Wakkach A, Sexton P, Rochet N, Carle G. Hematological defects in the oc/oc mouse, a model of infantile malignant osteopetrosis. Leukemia. 2004;18:1505-11 pubmed
    Infantile malignant osteopetrosis (IMO) is a rare and lethal disease characterized by an absence of bone resorption due to inactive OCLs. Affected patients display an increased bone mass and hematological defects...
  48. Henriksen K, Tanko L, Qvist P, Delmas P, Christiansen C, Karsdal M. Assessment of osteoclast number and function: application in the development of new and improved treatment modalities for bone diseases. Osteoporos Int. 2007;18:681-5 pubmed
  49. Tondelli B, Blair H, Guerrini M, Patrene K, Cassani B, Vezzoni P, et al. Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse. Am J Pathol. 2009;174:727-35 pubmed publisher
    Autosomal recessive osteopetrosis (ARO) is a group of genetic disorders that involve defects that preclude the normal function of osteoclasts, which differentiate from hematopoietic precursors...
  50. Van Wesenbeeck L, Odgren P, Coxon F, Frattini A, Moens P, Perdu B, et al. Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest. 2007;117:919-30 pubmed
    ..to underlie the osteopetrotic phenotype of the incisors absent rat as well as an intermediate type of human osteopetrosis. Electron and confocal microscopic analysis demonstrated that monocytes from a patient homozygous for the ..
  51. Bhargava A, Voronov I, Wang Y, Glogauer M, Kartner N, Manolson M. Osteopetrosis mutation R444L causes endoplasmic reticulum retention and misprocessing of vacuolar H+-ATPase a3 subunit. J Biol Chem. 2012;287:26829-39 pubmed publisher
    b>Osteopetrosis is a genetic bone disease characterized by increased bone density and fragility...
  52. Kadono Y, Tanaka S, Nishino J, Nishimura K, Nakamura I, Miyazaki T, et al. Rheumatoid arthritis associated with osteopetrosis. Mod Rheumatol. 2009;19:687-90 pubmed publisher
    b>Osteopetrosis is an inherited disorder characterized by reduced bone resorption. We here report a rare case of osteopetrosis associated with rheumatoid arthritis...
  53. Boskey A. Mineral changes in osteopetrosis. Crit Rev Eukaryot Gene Expr. 2003;13:109-16 pubmed
    Bones of animal models of osteopetrosis in a variety of animal species are characterized by increased density but impaired mechanical properties...
  54. Steward C, Pellier I, Mahajan A, Ashworth M, Stuart A, Fasth A, et al. Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis. Br J Haematol. 2004;124:63-71 pubmed
    ..hypertension (PAH) at days -2 to +89 after allogeneic stem cell transplantation (SCT) for malignant infantile osteopetrosis (MIOP)...
  55. Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo L. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol. 2009;84:473-9 pubmed publisher
    Infantile malignant osteopetrosis (IMO) includes various genetic disorders that affect osteoclast development and/or function...
  56. Engiz O, Kara S, Bagrul D, Lahr G, Alioglu B, Arikan I, et al. Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. J Pediatr Endocrinol Metab. 2012;25:1205-7 pubmed publisher
    Infantile malignant osteopetrosis (IMO; OMIM 259700) is a rare inherited bone disease characterized by reduced or dysregulated activity of osteoclasts, resulting in generalized osteosclerosis...
  57. Whyte M, McAlister W, Novack D, Clements K, Schoenecker P, Wenkert D. Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. J Bone Miner Res. 2008;23:1698-707 pubmed publisher
    In 2003, we reported on a 12-yr-old boy who had developed osteopetrosis (OPT) while receiving pamidronate (PMD) for idiopathic bone pain and enigmatic elevation in circulating bone alkaline phosphatase...
  58. Birmingham P, McHale K. Case reports: treatment of subtrochanteric and ipsilateral femoral neck fractures in an adult with osteopetrosis. Clin Orthop Relat Res. 2008;466:2002-8 pubmed publisher
    We describe a patient with autosomal-dominant osteopetrosis, a subtrochanteric fracture, and an ipsilateral femoral neck fracture treated with a hip spica cast Although the fracture united with coxa vara and external rotation deformities,..
  59. Letizia C, Taranta A, Migliaccio S, Caliumi C, Diacinti D, Delfini E, et al. Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. Calcif Tissue Int. 2004;74:42-6 pubmed
    A 16-year-old male patient with type II autosomal dominant benign osteopetrosis (ADO) was genotyped and found to harbor a novel mutation in exon 25 of the gene encoding for the osteoclast-specific chloride channel, CLCN7, inherited from ..
  60. Pangrazio A, Fasth A, Sbardellati A, Orchard P, Kasow K, Raza J, et al. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013;28:1041-9 pubmed publisher
    Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts...
  61. Blin Wakkach C, Wakkach A, Quincey D, Carle G. Interleukin-7 partially rescues B-lymphopoiesis in osteopetrotic oc/oc mice through the engagement of B220+ CD11b+ progenitors. Exp Hematol. 2006;34:851-9 pubmed
    ..Among the possible factors, interleukin (IL)-7 is involved in the control of B lymphopoiesis and osteoclastogenesis. Therefore, we hypothesized that IL-7 could regulate the accumulation of the B220+ CD11b+ population in oc/oc mice...
  62. Moscatelli I, Thudium C, Flores C, Schulz A, Askmyr M, Gudmann N, et al. Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis. Bone. 2013;57:1-9 pubmed publisher
    Infantile malignant osteopetrosis (IMO) is a rare, lethal, autosomal recessive disorder characterized by non-functional osteoclasts...
  63. Bhargava A, Vagela M, Lennox C. "Challenges in the management of fractures in osteopetrosis"! Review of literature and technical tips learned from long-term management of seven patients. Injury. 2009;40:1167-71 pubmed publisher
    b>Osteopetrosis is a metabolic disorder with diminished bone resorption due to osteoclastic abnormality. It causes hard and brittle marble bone which fractures easily. Most of these fractures can be treated conservatively...
  64. Salanitri G, Hennessy O. Osteopetrosis with intrathoracic extramedullary hematopoiesis. AJR Am J Roentgenol. 2005;184:702-3 pubmed
  65. Ochotny N, Flenniken A, Owen C, Voronov I, Zirngibl R, Osborne L, et al. The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice. J Bone Miner Res. 2011;26:1484-93 pubmed publisher
    ..These results suggest that the V(0) complex has proton-pumping-independent functions in mammalian cells...
  66. Lam D, Sandor G, Holmes H, Carmichael R, Clokie C. Marble bone disease: a review of osteopetrosis and its oral health implications for dentists. J Can Dent Assoc. 2007;73:839-43 pubmed
    b>Osteopetrosis is one cause of osteosclerosis and may result in such serious oral complications as osteomyelitis and exposed necrotic bone...
  67. Whyte M, Kempa L, McAlister W, Zhang F, Mumm S, Wenkert D. Elevated serum lactate dehydrogenase isoenzymes and aspartate transaminase distinguish Albers-Schönberg disease (Chloride Channel 7 Deficiency Osteopetrosis) among the sclerosing bone disorders. J Bone Miner Res. 2010;25:2515-26 pubmed publisher
    b>Osteopetrosis (OPT) refers to the consequences of generalized failure of skeletal resorption during growth...
  68. Johansson M, Jansson L, Ehinger M, Fasth A, Karlsson S, Richter J. Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis. Exp Hematol. 2006;34:242-9 pubmed
    Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disorder affecting osteoclast function. Fifty percent of the patients have a mutation in the TCIRG1 gene coding for one subunit of an osteoclast proton pump...
  69. Karsdal M, Martin T, Bollerslev J, Christiansen C, Henriksen K. Are nonresorbing osteoclasts sources of bone anabolic activity?. J Bone Miner Res. 2007;22:487-94 pubmed
    ..When this delicate balance is disturbed, the net result is pathological situations, such as osteopetrosis or osteoporosis...
  70. Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, et al. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Hum Mutat. 2004;24:225-35 pubmed
    Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism...
  71. Lu X, Rios H, Jiang B, Xing L, Kadlcek R, Greenfield E, et al. A new osteopetrosis mutant mouse strain (ntl) with odontoma-like proliferations and lack of tooth roots. Eur J Oral Sci. 2009;117:625-35 pubmed publisher
    A new spontaneous mouse mutant (ntl) with autosomal-recessive osteopetrosis was characterized...
  72. Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, et al. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006;43:315-25 pubmed
    b>Osteopetrosis, a genetic disease characterised by osteoclast failure, is classified into three forms: infantile malignant autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IRO), and autosomal ..
  73. Koh A, Demiralp B, Neiva K, Hooten J, Nohutcu R, Shim H, et al. Cells of the osteoclast lineage as mediators of the anabolic actions of parathyroid hormone in bone. Endocrinology. 2005;146:4584-96 pubmed
    ..These results indicate that c-fos in osteoblasts is not critical for PTH action but that cells of the osteoclast lineage are intermediate targets for the anabolic action of PTH...
  74. Fotiadou A, Arvaniti M, Kiriakou V, Tsitouridis I. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease. Skeletal Radiol. 2009;38:1015-21 pubmed publisher
    ..patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations...
  75. Song K, Kim H. Femoral neck fracture in a child with autosomal-dominant osteopetrosis: failure of spica cast treatment and successful outcome by internal fixation. J Orthop Trauma. 2005;19:494-7 pubmed
    A case report of a 6-year-old child with autosomal dominant osteopetrosis who sustained a closed femoral neck fracture initially treated with a spica cast with subsequent fracture displacement is presented...
  76. Crockett J, Mellis D, Scott D, Helfrich M. New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis. Osteoporos Int. 2011;22:1-20 pubmed publisher
    ..and genetic studies have over the past decade identified many causative genes in the osteoclast diseases osteopetrosis and Paget's disease of bone...
  77. Dozier T, Duncan I, Klein A, Lambert P, Key L. Otologic manifestations of malignant osteopetrosis. Otol Neurotol. 2005;26:762-6 pubmed
    To determine the incidence of hearing loss and describe the neurotologic manifestations over time in a large series of patients with malignant osteopetrosis.
  78. Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4:5 pubmed publisher
    b>Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs...
  79. Junquera L, Rodríguez Recio C, Villarreal P, García Consuegra L. Autosomal dominant osteopetrosis and maxillomandibular osteomyelitis. Am J Otolaryngol. 2005;26:275-8 pubmed
    ..They range from a devastating neurometabolic disease (including severe malignant infantile osteopetrosis) to 2 more benign conditions principally affecting adults: autosomal dominant osteopetrosis (ADO) type I and ..
  80. Aïoub M, Lezot F, Molla M, Castaneda B, Robert B, Goubin G, et al. Msx2 -/- transgenic mice develop compound amelogenesis imperfecta, dentinogenesis imperfecta and periodental osteopetrosis. Bone. 2007;41:851-9 pubmed
    ..Decreased alveolar osteoclast activity was observed in Msx2 -/- mice, similar to that seen in osteopetrosis, another condition in which osteoclast activity is impaired and odontogenic tumours form...
  81. Wu J, Glimcher L, Aliprantis A. HCO3-/Cl- anion exchanger SLC4A2 is required for proper osteoclast differentiation and function. Proc Natl Acad Sci U S A. 2008;105:16934-9 pubmed publisher
    ..These data highlight SLC4A2 as a critical mediator of osteoclast differentiation and function in vitro and in vivo...
  82. Whyte M, Wenkert D, Clements K, McAlister W, Mumm S. Bisphosphonate-induced osteopetrosis. N Engl J Med. 2003;349:457-63 pubmed
  83. Sui W, Ou M, Liang J, Ding M, Chen J, Liu W, et al. Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing. Gene. 2013;516:311-5 pubmed publisher
    b>Osteopetrosis is a rare genetically heterogeneous disorder of bone metabolism characterized by increased skeleton density...
  84. Kajiya H, Okamoto F, Ohgi K, Nakao A, Fukushima H, Okabe K. Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells. Pflugers Arch. 2009;458:1049-59 pubmed publisher
    ..channels (Clcn7) are crucial for osteoclastic bone resorption and have heterozygous mutation in autosomal osteopetrosis type II (ADO II) patients...
  85. Croke M, Ross F, Korhonen M, Williams D, Zou W, Teitelbaum S. Rac deletion in osteoclasts causes severe osteopetrosis. J Cell Sci. 2011;124:3811-21 pubmed publisher
    ..or Rac2 alone has no effect, variable reduction of Rac1 in osteoclastic cells of Rac2(-/-) mice causes severe osteopetrosis. Osteoclasts lacking Rac1 and Rac2 in combination (Rac double-knockout, RacDKO), fail to effectively resorb ..
  86. Pavlos N, Xu J, Riedel D, Yeoh J, Teitelbaum S, Papadimitriou J, et al. Rab3D regulates a novel vesicular trafficking pathway that is required for osteoclastic bone resorption. Mol Cell Biol. 2005;25:5253-69 pubmed
    ..Collectively, our data suggest that Rab3D modulates a post-TGN trafficking step that is required for osteoclastic bone resorption...
  87. Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stöckle C, et al. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Hum Mutat. 2004;23:471-6 pubmed
    Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia...
  88. Tolar J, Teitelbaum S, Orchard P. Osteopetrosis. N Engl J Med. 2004;351:2839-49 pubmed
  89. Blair H, Borysenko C, Villa A, Schlesinger P, Kalla S, Yaroslavskiy B, et al. In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects. J Bone Miner Res. 2004;19:1329-38 pubmed
    ..Analysis of genotypes showed that TCIRG1 anomalies correlated with acid transport defects, but surprisingly, organic matrix removal failure correlated with CLCN7 defects; an attachment defect had normal TCIRG1 and CLCN7...
  90. Phadke S, Fischer B, Gupta N, Ranganath P, Kabra M, Kornak U. Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis. Indian J Med Res. 2010;131:508-14 pubmed
    Although clinical reports have described infantile malignant autosomal recessive osteopetrosis (ARO) in Indian patients, no published data are available about the genetic causes of ARO in this population...
  91. Megarbane A, Pangrazio A, Villa A, Chouery E, Maarawi J, Sabbagh S, et al. Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia. Eur J Med Genet. 2013;56:32-5 pubmed publisher
    ..belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p...