Infantile malignant, autosomal recessive osteopetrosis: The rich and the poor

Calcified Tissue International

Volumn 84, Issue 1, 2009, Pages 1-12

  Villa, Anna ^a,b   Guerrini, Matteo M ^a,b   Cassani, Barbara ^b   Pangrazio, Alessandra ^a,b   Sobacchi, Cristina ^a,b  

^a CNR   (Italy)

^b HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

Author keywords

Bone turnover; Cell differentiation; Cytokines; OPG; Osteoclasts; Osteopetrosis; Osteosclerosis; RANK; RANKL; Remodeling

Indexed keywords

CALCIUM; CARBONATE DEHYDRATASE II; OSTEOCLAST DIFFERENTIATION FACTOR;

ACIDIFICATION; ALBERS SCHOENBERG DISEASE; BIOCHEMISTRY; BONE MARROW TRANSPLANTATION; CELL DIFFERENTIATION; CELLULAR DISTRIBUTION; CYTOLOGY; DISSECTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; HUMAN; IMMUNOLOGY; MESENCHYME CELL; MOUSE MUTANT; NONHUMAN; OSTEOCLAST; OSTEOLYSIS; PRIORITY JOURNAL; REVIEW;

ANIMALS; CELL DIFFERENTIATION; CHILD; HUMANS; INFANT; MICE; OSTEOCLASTS; OSTEOPETROSIS; RANK LIGAND; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR-KAPPA B;

EID: 58149308297     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-008-9196-4     Document Type: Review

References (108)

1. L Van Wesenbeeck W Van Hul 2005 Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology Crit Rev Eukaryot Gene Expr 15 133 162
2. SL Teitelbaum FP Ross 2003 Genetic regulation of osteoclast development and function Nat Rev Genet 4 638 649
3. W Balemans L Van Wesenbeeck W Van Hul 2005 A clinical and molecular overview of the human osteopetroses Calcif Tissue Int 77 263 274
4. J Tolar SL Teitelbaum PJ Orchard 2004 Osteopetrosis N Engl J Med 351 2839 2849
5. EJ Gerritsen JM Vossen IH van Loo J Hermans MH Helfrich C Griscelli A Fischer 1994 Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course Pediatrics 93 247 253
6. J Cohen 1951 Osteopetrosis; case report, autopsy findings, and pathological interpretation: failure of treatment with vitamin A J Bone Joint Surg Am 33-A 923 938
7. H Rees LC Ang R Casey DH George 1995 Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder Pediatr Neurosurg 22 321 327
8. K Takahashi M Naito F Yamamura T Taki S Sugino K Taku T Miike 1990 Infantile osteopetrosis complicating neuronal ceroid lipofuscinosis Pathol Res Pract 186 697 706
9. F Younai L Eisenbud JJ Sciubba 1988 Osteopetrosis: a case report including gross and microscopic findings in the mandible at autopsy Oral Surg Oral Med Oral Pathol 65 214 221
10. WS Sly D Hewett-Emmett MP Whyte YS Yu RE Tashian 1983 Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification Proc Natl Acad Sci USA 80 2752 2756
11. R Baron L Neff D Louvard PJ Courtoy 1985 Cell-mediated extracellular acidification and bone resorption: evidence for a low pH in resorbing lacunae and localization of a 100-kD lysosomal membrane protein at the osteoclast ruffled border J Cell Biol 101 2210 2222
12. HC Blair SL Teitelbaum R Ghiselli S Gluck 1989 Osteoclastic bone resorption by a polarized vacuolar proton pump Science 245 855 857
13. KC Jefferies DJ Cipriano M Forgac 2008 Function, structure and regulation of the vacuolar (H+)-ATPases Arch Biochem Biophys 476 33 42
14. HK Vaananen H Zhao M Mulari JM Halleen 2000 The cell biology of osteoclast function J Cell Sci 113 Pt 3 377 381
15. T Nishi M Forgac 2002 The vacuolar (H+)-ATPases-nature's most versatile proton pumps Nat Rev Mol Cell Biol 3 94 103
16. MF Manolson H Yu W Chen Y Yao K Li RL Lees JN Heersche 2003 The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (≥10 nuclei) and small (≤nuclei) osteoclasts J Biol Chem 278 49271 49278
17. N Utku T Heinemann SG Tullius GC Bulwin S Beinke RS Blumberg F Beato J Randall R Kojima L Busconi ES Robertson R Schulein HD Volk EL Milford SR Gullans 1998 Prevention of acute allograft rejection by antibody targeting of TIRC7, a novel T cell membrane protein Immunity 9 509 518
18. YP Li W Chen Y Liang E Li P Stashenko 1999 Atp6i-deficient mice exhibit severe osteopetrosis due to loss of osteoclast-mediated extracellular acidification Nat Genet 23 447 451
19. C Heaney H Shalev K Elbedour R Carmi JB Staack VC Sheffield DR Beier 1998 Human autosomal recessive osteopetrosis maps to 11q13, a position predicted by comparative mapping of the murine osteosclerosis (oc) mutation Hum Mol Genet 7 1407 1410
20. A Del Fattore B Peruzzi N Rucci I Recchia A Cappariello M Longo D Fortunati P Ballanti M Iacobini M Luciani R Devito R Pinto M Caniglia E Lanino C Messina S Cesaro C Letizia G Bianchini H Fryssira P Grabowski N Shaw N Bishop D Hughes RP Kapur HK Datta A Taranta R Fornari S Migliaccio A Teti 2006 Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment J Med Genet 43 315 325
21. A Frattini PJ Orchard C Sobacchi S Giliani M Abinun JP Mattsson DJ Keeling AK Andersson P Wallbrandt L Zecca LD Notarangelo P Vezzoni A Villa 2000 Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis Nat Genet 25 343 346
22. U Kornak A Schulz W Friedrich S Uhlhaas B Kremens T Voit C Hasan U Bode TJ Jentsch C Kubisch 2000 Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis Hum Mol Genet 9 2059 2063
23. L Susani A Pangrazio C Sobacchi A Taranta G Mortier R Savarirayan A Villa P Orchard P Vezzoni A Albertini A Frattini F Pagani 2004 TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA Hum Mutat 24 225 235
24. A Taranta S Migliaccio I Recchia M Caniglia M Luciani G De Rossi C Dionisi-Vici RM Pinto P Francalanci R Boldrini E Lanino G Dini G Morreale SH Ralston A Villa P Vezzoni D Del Principe F Cassiani G Palumbo A Teti 2003 Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis Am J Pathol 162 57 68
25. JC Scimeca D Quincey H Parrinello D Romatet J Grosgeorge P Gaudray N Philip A Fischer GF Carle 2003 Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis Hum Mutat 21 151 157
26. T Michigami T Kageyama K Satomura M Shima K Yamaoka M Nakayama K Ozono 2002 Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis Bone 30 436 439
27. E Bruder T Stallmach K Peier A Superti-Furga P Vezzoni 2003 Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation Pediatr Pathol Mol Med 22 3 9
28. JC Scimeca A Franchi C Trojani H Parrinello J Grosgeorge C Robert O Jaillon C Poirier P Gaudray GF Carle 2000 The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants Bone 26 207 213
29. N Udagawa N Takahashi T Akatsu H Tanaka T Sasaki T Nishihara T Koga TJ Martin T Suda 1990 Origin of osteoclasts: mature monocytes and macrophages are capable of differentiating into osteoclasts under a suitable microenvironment prepared by bone marrow-derived stromal cells Proc Natl Acad Sci USA 87 7260 7264
30. AM Flanagan HM Massey 2003 Generating human osteoclasts in vitro from bone marrow and peripheral blood Methods Mol Med 80 113 128
31. AM Flanagan U Sarma CG Steward A Vellodi MA Horton 2000 Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis J Bone Miner Res 15 352 360
32. JM Quinn S Neale Y Fujikawa JO McGee NA Athanasou 1998 Human osteoclast formation from blood monocytes, peritoneal macrophages, and bone marrow cells Calcif Tissue Int 62 527 531
33. A Teti A Taranta I Villanova I Recchia S Migliaccio 1999 Osteoclast isolation: new developments and methods J Bone Miner Res 14 1251 1252
34. HC Blair CW Borysenko A Villa PH Schlesinger SE Kalla BB Yaroslavskiy V Garcia-Palacios JI Oakley PJ Orchard 2004 In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects J Bone Miner Res 19 1329 1338
35. AM Flanagan HM Massey C Wilson A Vellodi MA Horton CG Steward 2002 Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro Bone 30 85 90
36. MH Helfrich EJ Gerritsen 2001 Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis Br J Haematol 112 64 68
37. C Sobacchi A Frattini P Orchard O Porras I Tezcan M Andolina R Babul-Hirji I Baric N Canham D Chitayat S Dupuis-Girod I Ellis A Etzioni A Fasth A Fisher B Gerritsen V Gulino E Horwitz V Klamroth E Lanino M Mirolo A Musio G Matthijs S Nonomaya LD Notarangelo HD Ochs A Superti Furga J Valiaho JL van Hove M Vihinen D Vujic P Vezzoni A Villa 2001 The mutational spectrum of human malignant autosomal recessive osteopetrosis Hum Mol Genet 10 1767 1773
38. M Telatar S Wang S Castellvi-Bel LQ Tai S Sheikhavandi JR Regueiro O Porras RA Gatti 1998 A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia Mol Genet Metab 64 36 43
39. Pangrazio A, Caldana ME, Sobacchi C, Panaroni C, Susani L, Mihci E, Cavaliere ML, Giliani S, Villa A, Frattini A (2008) Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. J Bone Miner Res (in press) August 20 [Epub ahead of print]
40. TJ Jentsch 2008 CLC chloride channels and transporters: from genes to protein structure, pathology and physiology Crit Rev Biochem Mol Biol 43 3 36
41. AR Graves PK Curran CL Smith JA Mindell 2008 The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes Nature 453 788 792
42. JA Mindell 2008 The chloride channel's appendix Nat Struct Mol Biol 15 781 783
43. U Kornak D Kasper MR Bosl E Kaiser M Schweizer A Schulz W Friedrich G Delling TJ Jentsch 2001 Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man Cell 104 205 215
44. A Frattini A Pangrazio L Susani C Sobacchi M Mirolo M Abinun M Andolina A Flanagan EM Horwitz E Mihci LD Notarangelo U Ramenghi A Teti J Van Hove D Vujic T Young A Albertini PJ Orchard P Vezzoni A Villa 2003 Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis J Bone Miner Res 18 1740 1747
45. O Benichou E Cleiren J Gram J Bollerslev MC de Vernejoul W Van Hul 2001 Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3 Am J Hum Genet 69 647 654
46. E Cleiren O Benichou E Van Hul J Gram J Bollerslev FR Singer K Beaverson A Aledo MP Whyte T Yoneyama MC deVernejoul W Van Hul 2001 Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene Hum Mol Genet 10 2861 2867
47. K Chu R Snyder MJ Econs 2006 Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties J Bone Miner Res 21 1089 1097
48. K Henriksen J Gram S Schaller BH Dahl MH Dziegiel J Bollerslev MA Karsdal 2004 Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II Am J Pathol 164 1537 1545
49. AB Campos-Xavier JM Saraiva LM Ribeiro A Munnich V Cormier-Daire 2003 Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis Hum Genet 112 186 189
50. CW Lam SF Tong K Wong YF Luo HY Tang SY Ha MH Chan 2007 DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity J Hum Genet 52 98 101
51. D Kasper R Planells-Cases JC Fuhrmann O Scheel O Zeitz K Ruether A Schmitt M Poet R Steinfeld M Schweizer U Kornak TJ Jentsch 2005 Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration Embo J 24 1079 1091
52. H Gruneberg 1936 Grey lethal, a new mutation in the house mouse J Hered 27 105 109
53. N Chalhoub N Benachenhou V Rajapurohitam M Pata M Ferron A Frattini A Villa J Vacher 2003 Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human Nat Med 9 399 406
54. A Pangrazio PL Poliani A Megarbane G Lefranc E Lanino M Di Rocco F Rucci F Lucchini M Ravanini F Facchetti M Abinun P Vezzoni A Villa A Frattini 2006 Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement J Bone Miner Res 21 1098 1105
55. P Quarello M Forni L Barberis C Defilippi MF Campagnoli L Silvestro A Frattini N Chalhoub J Vacher U Ramenghi 2004 Severe malignant osteopetrosis caused by a GL gene mutation J Bone Miner Res 19 1194 1199
56. A Ramirez J Faupel I Goebel A Stiller S Beyer C Stockle C Hasan U Bode U Kornak C Kubisch 2004 Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis Hum Mutat 23 471 476
57. B Maranda G Chabot JC Decarie M Pata B Azeddine A Moreau J Vacher 2008 Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis J Bone Miner Res 23 296 300
58. N Souraty P Noun C Djambas-Khayat E Chouery A Pangrazio A Villa G Lefranc A Frattini A Megarbane 2007 Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis Eur J Med Genet 50 188 199
59. PF Lange L Wartosch TJ Jentsch JC Fuhrmann 2006 ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function Nature 440 220 223
60. J Alroy R Pfannl A Ucci G Lefranc A Frattini A Megarbane 2007 Electron microscopic findings in skin biopsies from patients with infantile osteopetrosis and neuronal storage disease Ultrastruct Pathol 31 333 338
61. RO Greep 1941 An hereditary absence of the incisors teeth J Hered 32 397 398
62. L Van Wesenbeeck PR Odgren FP Coxon A Frattini P Moens B Perdu CA MacKay E Van Hul JP Timmermans F Vanhoenacker R Jacobs B Peruzzi A Teti MH Helfrich MJ Rogers A Villa W Van Hul 2007 Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans J Clin Invest 117 919 930
63. A Del Fattore R Fornari L Van Wesenbeeck F de Freitas JP Timmermans B Peruzzi A Cappariello N Rucci G Spera MH Helfrich W Van Hul S Migliaccio A Teti 2008 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 23 380 391
64. PJ Venta RJ Welty TM Johnson WS Sly RE Tashian 1991 Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His-Tyr): complete structure of the normal human CA II gene Am J Hum Genet 49 1082 1090
65. MP Whyte WA Murphy MD Fallon WS Sly SL Teitelbaum WH McAlister LV Avioli 1980 Osteopetrosis, renal tubular acidosis and basal ganglia calcification in three sisters Am J Med 69 64 74
66. DS Margolis JA Szivek LW Lai YH Lien 2008 Phenotypic characteristics of bone in carbonic anhydrase II-deficient mice Calcif Tissue Int 82 66 76
67. R Doffinger A Smahi C Bessia F Geissmann J Feinberg A Durandy C Bodemer S Kenwrick S Dupuis-Girod S Blanche P Wood SH Rabia DJ Headon PA Overbeek F Le Deist SM Holland K Belani DS Kumararatne A Fischer R Shapiro ME Conley E Reimund H Kalhoff M Abinun A Munnich A Israel G Courtois JL Casanova 2001 X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling Nat Genet 27 277 285
68. S Dupuis-Girod N Corradini S Hadj-Rabia JC Fournet L Faivre F Le Deist P Durand R Doffinger A Smahi A Israel G Courtois N Brousse S Blanche A Munnich A Fischer JL Casanova C Bodemer 2002 Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother Pediatrics 109 e97
69. S Mansour H Woffendin S Mitton I Jeffery T Jakins S Kenwrick VA Murday 2001 Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection Am J Med Genet 99 172 177
70. JM Schmid SA Junge JP Hossle EM Schneider E Roosnek RA Seger T Gungor 2006 Transient hemophagocytosis with deficient cellular cytotoxicity, monoclonal immunoglobulin M gammopathy, increased T-cell numbers, and hypomorphic NEMO mutation Pediatrics 117 e1049 e1056
71. BM Nicholls RG Bredius NA Hamdy EJ Gerritsen AC Lankester PC Hogendoorn SA Nesbitt MA Horton AM Flanagan 2005 Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor J Bone Miner Res 20 2264 2270
72. A Frattini P Vezzoni A Villa C Sobacchi 2007 The dissection of human autosomal recessive osteopetrosis identifies an osteoclast-poor form due to RANKL deficiency Cell Cycle 6 3027 3033
73. A Del Fattore A Cappariello A Teti 2008 Genetics, pathogenesis and complications of osteopetrosis Bone 42 19 29
74. XM Dai GR Ryan AJ Hapel MG Dominguez RG Russell S Kapp V Sylvestre ER Stanley 2002 Targeted disruption of the mouse colony-stimulating factor 1 receptor gene results in osteopetrosis, mononuclear phagocyte deficiency, increased primitive progenitor cell frequencies, and reproductive defects Blood 99 111 120
75. J Paloneva M Kestila J Wu A Salminen T Bohling V Ruotsalainen P Hakola AB Bakker JH Phillips P Pekkarinen LL Lanier T Timonen L Peltonen 2000 Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts Nat Genet 25 357 361
76. J Paloneva T Manninen G Christman K Hovanes J Mandelin R Adolfsson M Bianchin T Bird R Miranda A Salmaggi L Tranebjaerg Y Konttinen L Peltonen 2002 Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype Am J Hum Genet 71 656 662
77. AE Kearns S Khosla PJ Kostenuik 2008 Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease Endocr Rev 29 155 192
78. D Kim RE Mebius JD MacMicking S Jung T Cupedo Y Castellanos J Rho BR Wong R Josien N Kim PD Rennert Y Choi 2000 Regulation of peripheral lymph node genesis by the tumor necrosis factor family member TRANCE J Exp Med 192 1467 1478
79. YY Kong H Yoshida I Sarosi HL Tan E Timms C Capparelli S Morony AJ Oliveira-dos-Santos G Van A Itie W Khoo A Wakeham CR Dunstan DL Lacey TW Mak WJ Boyle JM Penninger 1999 OPGL is a key regulator of osteoclastogenesis, lymphocyte development and lymph-node organogenesis Nature 397 315 323
80. I Itonaga A Sabokbar SG Sun O Kudo L Danks D Ferguson Y Fujikawa NA Athanasou 2004 Transforming growth factor-beta induces osteoclast formation in the absence of RANKL Bone 34 57 64
81. M Kanatani T Sugimoto H Sowa T Kobayashi M Kanzawa K Chihara 2004 Thyroid hormone stimulates osteoclast differentiation by a mechanism independent of RANKL-RANK interaction J Cell Physiol 201 17 25
82. N Kim Y Kadono M Takami J Lee SH Lee F Okada JH Kim T Kobayashi PR Odgren H Nakano WC Yeh SK Lee JA Lorenzo Y Choi 2005 Osteoclast differentiation independent of the TRANCE-RANK-TRAF6 axis J Exp Med 202 589 595
83. C Sobacchi A Frattini MM Guerrini M Abinun A Pangrazio L Susani R Bredius G Mancini A Cant N Bishop P Grabowski A Del Fattore C Messina G Errigo FP Coxon DI Scott A Teti MJ Rogers P Vezzoni A Villa MH Helfrich 2007 Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL Nat Genet 39 960 962
84. MM Guerrini C Sobacchi B Cassani M Abinun SS Kilic A Pangrazio D Moratto E Mazzolari J Clayton-Smith P Orchard FP Coxon MH Helfrich JC Crockett D Mellis A Vellodi I Tezcan LD Notarangelo MJ Rogers P Vezzoni A Villa A Frattini 2008 Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations Am J Hum Genet 83 64 76
85. AE Hughes SH Ralston J Marken C Bell H MacPherson RG Wallace W van Hul MP Whyte K Nakatsuka L Hovy DM Anderson 2000 Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis Nat Genet 24 45 48
86. K Nakatsuka Y Nishizawa SH Ralston 2003 Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene J Bone Miner Res 18 1381 1385
87. MP Whyte AE Hughes 2002 Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis J Bone Miner Res 17 26 29
88. JR Arron Y Choi 2000 Bone versus immune system Nature 408 535 536
89. A Villa P Vezzoni A Frattini 2006 Osteopetroses and immunodeficiencies in humans Curr Opin Allergy Clin Immunol 6 421 427
90. SH Lee TS Kim Y Choi J Lorenzo 2008 Osteoimmunology: cytokines and the skeletal system BMB Rep 41 495 510
91. K Loser A Mehling S Loeser J Apelt A Kuhn S Grabbe T Schwarz JM Penninger S Beissert 2006 Epidermal RANKL controls regulatory T-cell numbers via activation of dendritic cells Nat Med 12 1372 1379
92. G Schett 2008 Review: immune cells and mediators of inflammatory arthritis Autoimmunity 41 224 229
93. W Chen S Yang Y Abe M Li Y Wang J Shao E Li YP Li 2007 Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence Hum Mol Genet 16 410 423
94. S Nataf A Anginot C Vuaillat L Malaval N Fodil E Chereul JB Langlois C Dumontel G Cavillon C Confavreux M Mazzorana L Vico MF Belin E Vivier E Tomasello P Jurdic 2005 Brain and bone damage in KARAP/DAP12 loss-of-function mice correlate with alterations in microglia and osteoclast lineages Am J Pathol 166 275 286
95. CJ Wilson A Vellodi 2000 Autosomal recessive osteopetrosis: diagnosis, management, and outcome Arch Dis Child 83 449 452
96. MK Askmyr A Fasth J Richter 2008 Towards a better understanding and new therapeutics of osteopetrosis Br J Haematol 140 597 609
97. GJ Driessen EJ Gerritsen A Fischer A Fasth WC Hop P Veys F Porta A Cant CG Steward JM Vossen D Uckan W Friedrich 2003 Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report Bone Marrow Transplant 32 657 663
98. EJ Gerritsen JM Vossen A Fasth W Friedrich G Morgan A Padmos A Vellodi O Porras A O'Meara F Porta 1994 Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group J Pediatr 125 896 902
99. MF Seifert SC Marks Jr 1987 Congenitally osteosclerotic (oc/oc) mice are resistant to cure by transplantation of bone marrow or spleen cells from normal littermates Tissue Cell 19 29 37
100. M Johansson L Jansson M Ehinger A Fasth S Karlsson J Richter 2006 Neonatal hematopoietic stem cell transplantation cures oc/oc mice from osteopetrosis Exp Hematol 34 242 249
101. MK Johansson TJ de Vries T Schoenmaker M Ehinger AC Brun A Fasth S Karlsson V Everts J Richter 2007 Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice Blood 109 5178 5185
102. A Frattini HC Blair MG Sacco F Cerisoli F Faggioli EM Cato A Pangrazio A Musio F Rucci C Sobacchi AC Sharrow SE Kalla MG Bruzzone R Colombo MC Magli P Vezzoni A Villa 2005 Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero Proc Natl Acad Sci USA 102 14629 14634
103. GS Wengler A Lanfranchi T Frusca R Verardi A Neva D Brugnoni S Giliani M Fiorini P Mella F Guandalini E Mazzolari S Pecorelli LD Notarangelo F Porta AG Ugazio 1996 In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI) Lancet 348 1484 1487
104. F Granero-Molto JA Weis L Longobardi A Spagnoli 2008 Role of mesenchymal stem cells in regenerative medicine: application to bone and cartilage repair Expert Opin Biol Ther 8 255 268
105. G Liu C Shu L Cui W Liu Y Cao 2008 Tissue-engineered bone formation with cryopreserved human bone marrow mesenchymal stem cells Cryobiology 56 209 215
106. TE Meyerrose M Roberts KK Ohlemiller CA Vogler L Wirthlin JA Nolta MS Sands 2008 Lentiviral-transduced human mesenchymal stem cells persistently express therapeutic levels of enzyme in a xenotransplantation model of human disease Stem Cells 26 1713 1722
107. YQ Xu ZC Liu 2008 Therapeutic potential of adult bone marrow stem cells in liver disease and delivery approaches Stem Cell Rev 4 101 112
108. A Mory SW Feigelson N Yarali SS Kilic GI Bayhan R Gershoni-Baruch A Etzioni R Alon 2008 Kindlin-3: a new gene involved in the pathogenesis of LAD-III Blood 112 2591