메뉴 건너뛰기




Volumn 77, Issue 5, 2005, Pages 263-274

A clinical and molecular overview of the human osteopetroses

Author keywords

Bone resorption; Human; Osteoclast; Osteopetrosis

Indexed keywords

CARBONATE DEHYDRATASE II; CHLORIDE CHANNEL; GAIP INTERACTING PROTEIN N TERMINAL PROTEIN; MEMBRANE PROTEIN; OSTEOPETROSIS ASSOCIATED TRANSMEMBRANE PROTEIN 1; PROTEIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; UNCLASSIFIED DRUG;

EID: 28244466312     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-005-0027-6     Document Type: Review
Times cited : (120)

References (91)
  • 1
    • 0024327043 scopus 로고
    • Molecular mechanisms of bone resorption by the osteoclast
    • Baron R (1989) Molecular mechanisms of bone resorption by the osteoclast. Anat Rec 224:317-324
    • (1989) Anat Rec , vol.224 , pp. 317-324
    • Baron, R.1
  • 2
    • 0022446902 scopus 로고
    • Evidence for a high and specific concentration of (Na+,K+)ATPase in the plasma membrane of the osteoclast
    • Baron R, Neff L, Roy C, Boisvert A, Caplan M (1986) Evidence for a high and specific concentration of (Na+,K+)ATPase in the plasma membrane of the osteoclast. Cell 46:311-320
    • (1986) Cell , vol.46 , pp. 311-320
    • Baron, R.1    Neff, L.2    Roy, C.3    Boisvert, A.4    Caplan, M.5
  • 3
    • 0001690310 scopus 로고
    • Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification
    • USA
    • Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE (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
    • (1983) Proc Natl Acad Sci , vol.80 , pp. 2752-2756
    • Sly, W.S.1    Hewett-Emmett, D.2    Whyte, M.P.3    Yu, Y.S.4    Tashian, R.E.5
  • 4
    • 0024461376 scopus 로고
    • Osteoclastic bone resorption by a polarized vacuolar proton pump
    • Blair HC, Teitelbaum SL, Ghiselli R, Gluck S (1989) Osteoclastic bone resorption by a polarized vacuolar proton pump. Science 245:855-857
    • (1989) Science , vol.245 , pp. 855-857
    • Blair, H.C.1    Teitelbaum, S.L.2    Ghiselli, R.3    Gluck, S.4
  • 7
    • 0032696855 scopus 로고    scopus 로고
    • Human malignant osteopetrosis: Pathophysiology, management and the role of bone marrow transplantation
    • Fasth A, Porras O (1999) Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 3 (Suppl 1):102-107
    • (1999) Pediatr Transplant , vol.3 , Issue.1 SUPPL. , pp. 102-107
    • Fasth, A.1    Porras, O.2
  • 8
    • 0033756382 scopus 로고    scopus 로고
    • Autosomal recessive osteopetrosis: Diagnosis, management, and outcome
    • Wilson CJ, Vellodi A (2000) Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 83:449-452
    • (2000) Arch Dis Child , vol.83 , pp. 449-452
    • Wilson, C.J.1    Vellodi, A.2
  • 11
    • 0028135342 scopus 로고
    • Bone marrow transplantation for autosomal recessive osteopetrosis
    • A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group
    • Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F (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
    • (1994) J Pediatr , vol.125 , pp. 896-902
    • Gerritsen, E.J.1    Vossen, J.M.2    Fasth, A.3    Friedrich, W.4    Morgan, G.5    Padmos, A.6    Vellodi, A.7    Porras, O.8    O'Meara, A.9    Porta, F.10
  • 16
    • 0036169599 scopus 로고    scopus 로고
    • Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis
    • Michigami T, Kageyama T, Satomura K, Shima M, Yamaoka K, Nakayama M, Ozono K (2002) Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. Bone 30:436-439
    • (2002) Bone , vol.30 , pp. 436-439
    • Michigami, T.1    Kageyama, T.2    Satomura, K.3    Shima, M.4    Yamaoka, K.5    Nakayama, M.6    Ozono, K.7
  • 18
    • 0037265871 scopus 로고    scopus 로고
    • Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis
    • Scimeca JC, Quincey D, Parrinello H, Romatet D Grosgeorge J, Gaudray P, Philip N, Fischer A, Carle GF (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
    • (2003) Hum Mutat , vol.21 , pp. 151-157
    • Scimeca, J.C.1    Quincey, D.2    Parrinello, H.3    Romatet, D.4    Grosgeorge, J.5    Gaudray, P.6    Philip, N.7    Fischer, A.8    Carle, G.F.9
  • 23
    • 2542505380 scopus 로고    scopus 로고
    • Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia
    • Shin YJ (2004) Chloride channel CICN7 mutations in a Korean patient with infantile malignant osteopetrosis initially presenting with neonatal thrombocytopenia. J Perinatol 24:312-314
    • (2004) J Perinatol , vol.24 , pp. 312-314
    • Shin, Y.J.1
  • 24
    • 1942533447 scopus 로고    scopus 로고
    • Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II
    • Henriksen K, Gram J, Schaller S, Dahl BH, Dziegiel MH, Bollerslev J, Karsdal MA (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
    • (2004) Am J Pathol , vol.164 , pp. 1537-1545
    • Henriksen, K.1    Gram, J.2    Schaller, S.3    Dahl, B.H.4    Dziegiel, M.H.5    Bollerslev, J.6    Karsdal, M.A.7
  • 27
    • 0035047413 scopus 로고    scopus 로고
    • The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/function
    • Rajapurohitam V, Chalhoub N, Benachenhou N, Neff L, Baron R, Vacher J (2001) The mouse osteopetrotic grey-lethal mutation induces a defect in osteoclast maturation/ function. Bone 28:513-523
    • (2001) Bone , vol.28 , pp. 513-523
    • Rajapurohitam, V.1    Chalhoub, N.2    Benachenhou, N.3    Neff, L.4    Baron, R.5    Vacher, J.6
  • 28
    • 0037478669 scopus 로고    scopus 로고
    • Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP
    • USA
    • Fischer T, De Vries L, Meerloo T, Farquhar MG (2003) Promotion of G alpha i3 subunit down-regulation by GIPN, a putative E3 ubiquitin ligase that interacts with RGS-GAIP. Proc Natl Acad Sci USA 100:8270-8275
    • (2003) Proc Natl Acad Sci , vol.100 , pp. 8270-8275
    • Fischer, T.1    De Vries, L.2    Meerloo, T.3    Farquhar, M.G.4
  • 29
    • 2342632645 scopus 로고    scopus 로고
    • Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
    • Ramirez A, Faupel J, Goebel I, Stiller A, Beyer S, Stockle C, Hasan C, Bode U, Kornak U, Kubisch C (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
    • (2004) Hum Mutat , vol.23 , pp. 471-476
    • Ramirez, A.1    Faupel, J.2    Goebel, I.3    Stiller, A.4    Beyer, S.5    Stockle, C.6    Hasan, C.7    Bode, U.8    Kornak, U.9    Kubisch, C.10
  • 32
    • 0033975778 scopus 로고    scopus 로고
    • Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis
    • Flanagan AM, Sarma U, Steward CG, Vellodi A, Horton MA (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
    • (2000) J Bone Miner Res , vol.15 , pp. 352-360
    • Flanagan, A.M.1    Sarma, U.2    Steward, C.G.3    Vellodi, A.4    Horton, M.A.5
  • 33
    • 0035134408 scopus 로고    scopus 로고
    • Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis
    • Helfrich MH, Gerritsen EJ (2001) Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis. Br J Haematol 112:64-68
    • (2001) Br J Haematol , vol.112 , pp. 64-68
    • Helfrich, M.H.1    Gerritsen, E.J.2
  • 34
    • 0344748197 scopus 로고
    • Report of a case of so-called "marble bones" with a review of the literature and a translation of an article
    • Alexander WG (1923) Report of a case of so-called "marble bones" with a review of the literature and a translation of an article. Am J Roentgenol 10:280-301
    • (1923) Am J Roentgenol , vol.10 , pp. 280-301
    • Alexander, W.G.1
  • 35
  • 39
    • 0037315475 scopus 로고    scopus 로고
    • Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
    • Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Daire V (2003) Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 112:186-189
    • (2003) Hum Genet , vol.112 , pp. 186-189
    • Campos-Xavier, A.B.1    Saraiva, J.M.2    Ribeiro, L.M.3    Munnich, A.4    Cormier-Daire, V.5
  • 40
    • 0023900049 scopus 로고
    • Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis
    • Bollerslev J, Andersen PE, Jr (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 9:7-13
    • (1988) Bone , vol.9 , pp. 7-13
    • Bollerslev, J.1    Andersen Jr., P.E.2
  • 41
    • 0028804681 scopus 로고
    • Centrifugal osteopetrosis: Appendicular sclerosis with relative sparing of the vertebrae
    • Kovacs CS, Lambert RG, Lavoie GJ, Siminoski K (1995) Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae. Skeletal Radiol 24:27-29
    • (1995) Skeletal Radiol , vol.24 , pp. 27-29
    • Kovacs, C.S.1    Lambert, R.G.2    Lavoie, G.J.3    Siminoski, K.4
  • 42
    • 0014265074 scopus 로고
    • Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form
    • Baltimore
    • Johnston CC Jr, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP Jr (1968) Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 47:149-167
    • (1968) Medicine , vol.47 , pp. 149-167
    • Johnston Jr., C.C.1    Lavy, N.2    Lord, T.3    Vellios, F.4    Merritt, A.D.5    Deiss Jr., W.P.6
  • 43
    • 0023110184 scopus 로고
    • Osteopetrosis. A genetic and epidemiological study
    • Bollerslev J (1987) Osteopetrosis. A genetic and epidemiological study. Clin Genet 31:86-90
    • (1987) Clin Genet , vol.31 , pp. 86-90
    • Bollerslev, J.1
  • 49
    • 2342501793 scopus 로고    scopus 로고
    • High-bone-mass disease and LRP5
    • author's reply
    • Boyden LM, Insogna K, Lifton RP (2004) High-bone-mass disease and LRP5 (author's reply). N Engl J Med 350:2098-2099
    • (2004) N Engl J Med , vol.350 , pp. 2098-2099
    • Boyden, L.M.1    Insogna, K.2    Lifton, R.P.3
  • 51
    • 0024389809 scopus 로고
    • Autosomal dominant osteopetrosis: Bone metabolism and epidemiological, clinical, and hormonal aspects
    • Bollerslev J (1989) Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects. Endocr Rev 10:45-67
    • (1989) Endocr Rev , vol.10 , pp. 45-67
    • Bollerslev, J.1
  • 52
    • 0027248560 scopus 로고
    • Autosomal dominant osteopetrosis
    • Bollerslev J, Mosekilde L (1993) Autosomal dominant osteopetrosis. Clin Orthop (294):45-51
    • (1993) Clin Orthop , Issue.294 , pp. 45-51
    • Bollerslev, J.1    Mosekilde, L.2
  • 53
    • 0344578061 scopus 로고    scopus 로고
    • Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): Clinical and radiological manifestations in 42 patients
    • Benichou O, Laredo J, de Vernejoul MC (2000) Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients. Bone 26:87-93
    • (2000) Bone , vol.26 , pp. 87-93
    • Benichou, O.1    Laredo, J.2    De Vernejoul, M.C.3
  • 54
    • 4243293879 scopus 로고    scopus 로고
    • Autosomal dominant osteopetrosis: Clinical severity and natural history
    • Waguespack SG, Buckwalter KA, Econs MJ (2000) Autosomal dominant osteopetrosis: clinical severity and natural history. J Bone Miner Res 15:S1; S578
    • (2000) J Bone Miner Res , vol.15 , Issue.S1
    • Waguespack, S.G.1    Buckwalter, K.A.2    Econs, M.J.3
  • 55
    • 0344942015 scopus 로고
    • Osteopetrosis in successive generations
    • Thomson J (1949) Osteopetrosis in successive generations. Arch Dis Child 24:143-148
    • (1949) Arch Dis Child , vol.24 , pp. 143-148
    • Thomson, J.1
  • 56
    • 0025012444 scopus 로고
    • Autosomal dominant osteopetrosis type II with "malignant" presentation: Further support for heterogeneity?
    • Walpole IR, Nicoll A, Goldblatt J (1990) Autosomal dominant osteopetrosis type II with "malignant" presentation: further support for heterogeneity? Clin Genet 38:257-263
    • (1990) Clin Genet , vol.38 , pp. 257-263
    • Walpole, I.R.1    Nicoll, A.2    Goldblatt, J.3
  • 59
    • 0036137583 scopus 로고    scopus 로고
    • Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro
    • Flanagan AM, Massey HM, Wilson C, Vellodi A, Horton MA, Steward CG (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
    • (2002) Bone , vol.30 , pp. 85-90
    • Flanagan, A.M.1    Massey, H.M.2    Wilson, C.3    Vellodi, A.4    Horton, M.A.5    Steward, C.G.6
  • 61
    • 0027304956 scopus 로고
    • Carbonic anhydrase II deficiency
    • Whyte MP (1993) Carbonic anhydrase II deficiency. Clin Orthop 294:52-63
    • (1993) Clin Orthop , vol.294 , pp. 52-63
    • Whyte, M.P.1
  • 62
    • 0025850291 scopus 로고
    • Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis
    • Sly WS, Sato S, Zhu XL (1991) Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. Clin Biochem 24:311-318
    • (1991) Clin Biochem , vol.24 , pp. 311-318
    • Sly, W.S.1    Sato, S.2    Zhu, X.L.3
  • 63
    • 0031900138 scopus 로고    scopus 로고
    • Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family
    • Strisciuglio P, Hu PY, Lim EJ, Ciccolella J, Sly WS (1998) Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family. J Pediatr 132:717-720
    • (1998) J Pediatr , vol.132 , pp. 717-720
    • Strisciuglio, P.1    Hu, P.Y.2    Lim, E.J.3    Ciccolella, J.4    Sly, W.S.5
  • 64
    • 15044355321 scopus 로고    scopus 로고
    • 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
    • Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS (2004) 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 24:272
    • (2004) Hum Mutat , vol.24 , pp. 272
    • Shah, G.N.1    Bonapace, G.2    Hu, P.Y.3    Strisciuglio, P.4    Sly, W.S.5
  • 66
    • 0037385299 scopus 로고    scopus 로고
    • Neurological aspects of osteopetrosis
    • Steward CG (2003) Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 29:87-97
    • (2003) Neuropathol Appl Neurobiol , vol.29 , pp. 87-97
    • Steward, C.G.1
  • 68
    • 0023902937 scopus 로고
    • The association of infantile osteopetrosis and neuronal storage disease in two brothers
    • Berl
    • Jagadha V, Halliday WC, Becker LE, Hinton D (1988) The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Neuropathol (Berl) 75:233-240
    • (1988) Acta Neuropathol , vol.75 , pp. 233-240
    • Jagadha, V.1    Halliday, W.C.2    Becker, L.E.3    Hinton, D.4
  • 69
    • 0029070297 scopus 로고
    • Association of infantile neuroaxonal dystrophy and osteopetrosis: A rare autosomal recessive disorder
    • Rees H, Ang LC, Casey R, George DH (1995) Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder. Pediatr Neurosurg 22:321-327
    • (1995) Pediatr Neurosurg , vol.22 , pp. 321-327
    • Rees, H.1    Ang, L.C.2    Casey, R.3    George, D.H.4
  • 70
    • 0015859336 scopus 로고
    • Prenatal axonal dystrophy and osteopetrosis
    • Fitch N, Carpenter S, Lachance RC (1973) Prenatal axonal dystrophy and osteopetrosis. Arch Pathol 95:298-301
    • (1973) Arch Pathol , vol.95 , pp. 298-301
    • Fitch, N.1    Carpenter, S.2    Lachance, R.C.3
  • 75
    • 0035281865 scopus 로고    scopus 로고
    • Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection
    • Mansour S, Woffendin H, Mitton S, Jeffery I, Jakins T, Kenwrick S, Murday VA (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection. Am J Med Genet 99:172-177
    • (2001) Am J Med Genet , vol.99 , pp. 172-177
    • Mansour, S.1    Woffendin, H.2    Mitton, S.3    Jeffery, I.4    Jakins, T.5    Kenwrick, S.6    Murday, V.A.7
  • 76
    • 0036771830 scopus 로고    scopus 로고
    • The NF-kappaB signalling pathway in human diseases: From incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
    • Smahi A, Courtois G, Rabia SH, Doffinger R, Bodemer C, Munnich A, Casanova JL, Israel A (2002) The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 11:2371-2375
    • (2002) Hum Mol Genet , vol.11 , pp. 2371-2375
    • Smahi, A.1    Courtois, G.2    Rabia, S.H.3    Doffinger, R.4    Bodemer, C.5    Munnich, A.6    Casanova, J.L.7    Israel, A.8
  • 77
    • 0037938844 scopus 로고    scopus 로고
    • Osteopetrosis and Glanzmann's thrombasthenia in a child
    • Yarali N, Fisgin T, Duru F, Kara A (2003) Osteopetrosis and Glanzmann's thrombasthenia in a child. Ann Hematol 82:254-256
    • (2003) Ann Hematol , vol.82 , pp. 254-256
    • Yarali, N.1    Fisgin, T.2    Duru, F.3    Kara, A.4
  • 80
    • 0141651720 scopus 로고    scopus 로고
    • Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia
    • Horton MA, Massey HM, Rosenberg N, Nicholls B, Seligsohn U, Flanagan AM (2003) Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia. Br J Haematol 122:950-957
    • (2003) Br J Haematol , vol.122 , pp. 950-957
    • Horton, M.A.1    Massey, H.M.2    Rosenberg, N.3    Nicholls, B.4    Seligsohn, U.5    Flanagan, A.M.6
  • 81
    • 0023627006 scopus 로고
    • Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes
    • Lerman-Sagie T, Levi Y, Kidron D, Grunebaum M, Nitzan M (1987) Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio- skeletal changes. Am J Med Genet 28:137-142
    • (1987) Am J Med Genet , vol.28 , pp. 137-142
    • Lerman-Sagie, T.1    Levi, Y.2    Kidron, D.3    Grunebaum, M.4    Nitzan, M.5
  • 82
    • 0035679461 scopus 로고    scopus 로고
    • Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum
    • Ben Hamouda H, Sfar MN, Braham R, Ben Salah M, Ayadi A, Soua H, Hamza H, Sfar MT (2001) Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. Acta Orthop Belg 67:528-532
    • (2001) Acta Orthop Belg , vol.67 , pp. 528-532
    • Ben Hamouda, H.1    Sfar, M.N.2    Braham, R.3    Ben Salah, M.4    Ayadi, A.5    Soua, H.6    Hamza, H.7    Sfar, M.T.8
  • 84
    • 0022416252 scopus 로고
    • Craniofacial abnormalities in osteopetrosis with precocious manifestations: Report of a case with serial cephalometric roentgenograms
    • Friede H, Manaligod JR, Rosenthal IM (1985) Craniofacial abnormalities in osteopetrosis with precocious manifestations: report of a case with serial cephalometric roentgenograms. J Craniofac Genet Dev Biol 5:247-257
    • (1985) J Craniofac Genet Dev Biol , vol.5 , pp. 247-257
    • Friede, H.1    Manaligod, J.R.2    Rosenthal, I.M.3
  • 85
    • 85026144368 scopus 로고    scopus 로고
    • Surgical correction of craniosynostosis in malignant osteopetrosis
    • Krimmel M, Niemann G, Will B, Reinert S (2004) Surgical correction of craniosynostosis in malignant osteopetrosis. J Craniofac Surg 15:218-220; discussion 221
    • (2004) J Craniofac Surg , vol.15 , pp. 218-220
    • Krimmel, M.1    Niemann, G.2    Will, B.3    Reinert, S.4
  • 86
    • 24644501631 scopus 로고    scopus 로고
    • Lessons from osteopetrotic mutations in animals: Impact on our current understanding of osteoclast biology
    • in press
    • Van Wesenbeeck L, Van Hul W Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology. Crit Rev Eukaryot Gene Expr in press
    • Crit Rev Eukaryot Gene Expr
    • Van Wesenbeeck, L.1    Van Hul, W.2
  • 87
    • 0035990969 scopus 로고    scopus 로고
    • Pycnodysostosis: Role and regulation of cathepsin K in osteoclast function and human disease
    • Motyckova G, Fisher DE (2002) Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease. Curr Mol Med 2:407-421
    • (2002) Curr Mol Med , vol.2 , pp. 407-421
    • Motyckova, G.1    Fisher, D.E.2
  • 88
    • 0029809357 scopus 로고    scopus 로고
    • Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency
    • Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236-1238
    • (1996) Science , vol.273 , pp. 1236-1238
    • Gelb, B.D.1    Shi, G.P.2    Chapman, H.A.3    Desnick, R.J.4
  • 89
    • 4444306858 scopus 로고    scopus 로고
    • The IkappaB kinase (IKK) inhibitor, NEMO-binding domain peptide, blocks osteoclastogenesis and bone erosion in inflammatory arthritis
    • Dai S, Hirayama T, Abbas S, Abu-Amer Y (2004) The IkappaB kinase (IKK) inhibitor, NEMO-binding domain peptide, blocks osteoclastogenesis and bone erosion in inflammatory arthritis. J Biol Chem 279:37219-37222
    • (2004) J Biol Chem , vol.279 , pp. 37219-37222
    • Dai, S.1    Hirayama, T.2    Abbas, S.3    Abu-Amer, Y.4
  • 90


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.