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. 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...
  2. 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)...
  3. 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...
  4. 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...
  5. 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)...
  6. 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...
  7. 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).
  8. 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 ..
  9. 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...
  10. 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 ..

Detail Information

Publications62

  1. 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...
  2. 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)...
  3. 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...
  4. 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...
  5. 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)...
  6. 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...
  7. 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).
  8. 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 ..
  9. 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...
  10. 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 ..
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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
    ....
  16. 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...
  17. 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 ..
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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...
  24. 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...
  25. 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,..
  26. 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...
  27. 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...
  28. 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...
  29. 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)...
  30. 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...
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. 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 ..
  37. 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...
  38. Salanitri G, Hennessy O. Osteopetrosis with intrathoracic extramedullary hematopoiesis. AJR Am J Roentgenol. 2005;184:702-3 pubmed
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. 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.
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. 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 ..
  49. 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...
  50. Whyte M, Wenkert D, Clements K, McAlister W, Mumm S. Bisphosphonate-induced osteopetrosis. N Engl J Med. 2003;349:457-63 pubmed
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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 ..
  57. Tolar J, Teitelbaum S, Orchard P. Osteopetrosis. N Engl J Med. 2004;351:2839-49 pubmed
  58. 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...
  59. 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...
  60. 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...
  61. 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 ..
  62. 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...