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Volumn 71, Issue 5, 2004, Pages 365-368

The ANKH gene and familial calcium pyrophosphate dihydrate deposition disease

Author keywords

ANKH; Calcium pyrophosphate dihydrate deposition disease; Chondrocalcinosis; Growth factors; Inorganic pyrophosphate; Mutations

Indexed keywords

CALCIUM PYROPHOSPHATE; CYTOKINE; GROWTH FACTOR; PROTEIN; PROTEIN ANKH; UNCLASSIFIED DRUG;

EID: 5044224057     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2004.01.011     Document Type: Short Survey
Times cited : (52)

References (32)
  • 2
    • 0033364524 scopus 로고    scopus 로고
    • Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease
    • Andrew L.J., Brancolini V., de la Pena L.S., Devoto M., Caeiro F., and Marchegiani R. Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease Am J Hum Gen 64 1999 136 145
    • (1999) Am J Hum Gen , vol.64 , pp. 136-145
    • Andrew, L.J.1    Brancolini, V.2    De La Pena, L.S.3    Devoto, M.4    Caeiro, F.5    Marchegiani, R.6
  • 3
    • 5044224742 scopus 로고    scopus 로고
    • Les chondrocalcinoses articulaires familiales
    • Kahn MF, Kuntz D, Meyer O, Bardin T, Orcel P editors. Paris: Elsevier éd;
    • Bardin T, Bouchaud-Chabot A, Collange C. Les chondrocalcinoses articulaires familiales. In "l'actualité rhumatologique". Kahn MF, Kuntz D, Meyer O, Bardin T, Orcel P editors. Paris: Elsevier éd; 2003; 93-101
    • (2003) L'Actualité Rhumatologique , pp. 93-101
    • Bardin, T.1    Bouchaud-Chabot, A.2    Collange, C.3
  • 4
    • 5044225933 scopus 로고
    • Rheumatic manifestations of heritable disorders of connective tissue
    • Kahn M.F., and de Sze S. Rheumatic manifestations of heritable disorders of connective tissue Clin Rheum Dis 1 1975 3 36
    • (1975) Clin Rheum Dis , vol.1 , pp. 3-36
    • Kahn, M.F.1    De Sze, S.2
  • 5
    • 0033495742 scopus 로고    scopus 로고
    • Exclusion of the gene for human cartilage intermediate-layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes
    • Marinescu R.C., Nyce K., de la Pena L.S., Overhauser J., and Williams C.J. Exclusion of the gene for human cartilage intermediate-layer protein in currently mapped calcium pyrophosphate dihydrate deposition syndromes Arthritis Rheum 42 1999 2139 2144
    • (1999) Arthritis Rheum , vol.42 , pp. 2139-2144
    • Marinescu, R.C.1    Nyce, K.2    De La Pena, L.S.3    Overhauser, J.4    Williams, C.J.5
  • 6
    • 0034647482 scopus 로고    scopus 로고
    • Role of the mouse ank gene in control of tissue calcification and arthritis
    • Ho A.M., Jonhson M.D., and Kingsley D.M. Role of the mouse ank gene in control of tissue calcification and arthritis Science 289 2000 265 270
    • (2000) Science , vol.289 , pp. 265-270
    • Ho, A.M.1    Jonhson, M.D.2    Kingsley, D.M.3
  • 7
    • 0019426077 scopus 로고
    • Progressive ankylosis, a new skeletal mutation in the mouse
    • Sweet H.O., and Green M.C. Progressive ankylosis, a new skeletal mutation in the mouse J Heredity 72 1981 87 93
    • (1981) J Heredity , vol.72 , pp. 87-93
    • Sweet, H.O.1    Green, M.C.2
  • 8
    • 0021733794 scopus 로고
    • Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy
    • Hakim F.T., Cranley R., Brown K.S., Eanes E.D., Harne L., and Oppenheim J.J. Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy Arthritis Rheum 27 1984 1411 1420
    • (1984) Arthritis Rheum , vol.27 , pp. 1411-1420
    • Hakim, F.T.1    Cranley, R.2    Brown, K.S.3    Eanes, E.D.4    Harne, L.5    Oppenheim, J.J.6
  • 9
    • 0024477784 scopus 로고
    • Progressive ankylosis (ank/ank) in mice: An animal model of spondylarthropathy. II. Light and electron microscopic findings
    • Mahowad M.L., Krug H., and Halverson P. Progressive ankylosis (ank/ank) in mice: an animal model of spondylarthropathy. II. Light and electron microscopic findings J Rheumatol 16 1989 60 66
    • (1989) J Rheumatol , vol.16 , pp. 60-66
    • Mahowad, M.L.1    Krug, H.2    Halverson, P.3
  • 10
    • 0023683615 scopus 로고
    • Histopathology of the intervertebral disc of progressive ankylosis mice
    • Sampson H.W., and Davis J.S. Histopathology of the intervertebral disc of progressive ankylosis mice Spine 13 1988 650 654
    • (1988) Spine , vol.13 , pp. 650-654
    • Sampson, H.W.1    Davis, J.S.2
  • 11
    • 0024214025 scopus 로고
    • Progressive ankylosis in mice. An animal model of spondylarthropathy. I. Clinical and radiographic findings
    • Mohawad M.L., Krug H., and Taurog J. Progressive ankylosis in mice. An animal model of spondylarthropathy. I. Clinical and radiographic findings Arthritis Rheum 31 1988 1390 1399
    • (1988) Arthritis Rheum , vol.31 , pp. 1390-1399
    • Mohawad, M.L.1    Krug, H.2    Taurog, J.3
  • 12
    • 0034020871 scopus 로고    scopus 로고
    • HLA-B27 has no effect on the phenotypic expression of progressive ankylosis in ank/ank mice
    • Krug H.E., and Taurog J.D. HLA-B27 has no effect on the phenotypic expression of progressive ankylosis in ank/ank mice J Rheumatol 27 2000 1257 1259
    • (2000) J Rheumatol , vol.27 , pp. 1257-1259
    • Krug, H.E.1    Taurog, J.D.2
  • 14
    • 0022870344 scopus 로고
    • Hereditary joint disorder in progressive ankylosis (ank/ank) mice. II. Effect of high dose hydroxycortisone treatment on inflammation and intraarticular calcium hydroxyapatite deposits
    • Hakim F.T., Brown K.S., and Oppenheim J.J. Hereditary joint disorder in progressive ankylosis (ank/ank) mice. II. Effect of high dose hydroxycortisone treatment on inflammation and intraarticular calcium hydroxyapatite deposits Arthritis Rheum 29 1986 114 123
    • (1986) Arthritis Rheum , vol.29 , pp. 114-123
    • Hakim, F.T.1    Brown, K.S.2    Oppenheim, J.J.3
  • 16
    • 0028237430 scopus 로고
    • Probenecid inhibits transforming growth factor-1 induced pyrophosphate elaboration by chondrocytes
    • Rosenthal A.K., and Ryan L.M. Probenecid inhibits transforming growth factor-1 induced pyrophosphate elaboration by chondrocytes J Rheumatol 21 1994 896 900
    • (1994) J Rheumatol , vol.21 , pp. 896-900
    • Rosenthal, A.K.1    Ryan, L.M.2
  • 17
    • 0031859977 scopus 로고    scopus 로고
    • Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine
    • Okawa A., Nakamura I., and Goto S. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine Nat Genet 19 1998 271 278
    • (1998) Nat Genet , vol.19 , pp. 271-278
    • Okawa, A.1    Nakamura, I.2    Goto, S.3
  • 18
    • 5044220967 scopus 로고
    • Mtabolisme des pyrophosphates
    • de Sze S. Ryckewaert A. Kahn M.F. Gurin C. Expansion scientifique d Paris
    • Bardin T. Mtabolisme des pyrophosphates de Sze S. Ryckewaert A. Kahn M.F. Gurin C. L'actualit rhumatologique 1986 1986 Expansion scientifique d Paris 242 249
    • (1986) L'Actualit Rhumatologique 1986 , pp. 242-249
    • Bardin, T.1
  • 20
    • 0000949329 scopus 로고    scopus 로고
    • Analysis of the ank gene reveals a heterozygous missense mutation in a French family with calcium pyrophosphate deposition disease (CPPDD)
    • Johnson M., Ho A., Mc Grath R., Netter P., Loeuille D., and Gillet P. Analysis of the ank gene reveals a heterozygous missense mutation in a French family with calcium pyrophosphate deposition disease (CPPDD) Arthritis Rheum 44 Suppl 9 2001 S161
    • (2001) Arthritis Rheum , vol.44 , Issue.9
    • Johnson, M.1    Ho, A.2    Mc Grath, R.3    Netter, P.4    Loeuille, D.5    Gillet, P.6
  • 21
    • 19044365958 scopus 로고    scopus 로고
    • Mutations in the human ANKH gene are associated with adult-onset chondrocalcinosis due to calcium pyrophosphate crystal deposition
    • Pendleton A., Johnson M.D., Hughes A., Gurley K.A., Ho A.M., and Doherty M. Mutations in the human ANKH gene are associated with adult-onset chondrocalcinosis due to calcium pyrophosphate crystal deposition Am J Hum Gen 71 2002 933 940
    • (2002) Am J Hum Gen , vol.71 , pp. 933-940
    • Pendleton, A.1    Johnson, M.D.2    Hughes, A.3    Gurley, K.A.4    Ho, A.M.5    Doherty, M.6
  • 22
    • 18144445478 scopus 로고    scopus 로고
    • Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH
    • Williams C.J., Zhang Y., Timms A., Bonavita G., Caeiro F., and Broxholme J. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH Am J Hum Gen 71 2002 985 991
    • (2002) Am J Hum Gen , vol.71 , pp. 985-991
    • Williams, C.J.1    Zhang, Y.2    Timms, A.3    Bonavita, G.4    Caeiro, F.5    Broxholme, J.6
  • 23
    • 0001014572 scopus 로고    scopus 로고
    • A heterozygous mutation in the human ANK gene in a British family with adult-onset chondrocalcinosis due to calcium pyrophosphate crystal deposition
    • Pendleton A., Johnston M., Ho A., Gurley K., Kingsley D., and Wright G.D. A heterozygous mutation in the human ANK gene in a British family with adult-onset chondrocalcinosis due to calcium pyrophosphate crystal deposition Arthritis Rheum 44 Suppl 9 2001 S101
    • (2001) Arthritis Rheum , vol.44 , Issue.9
    • Pendleton, A.1    Johnston, M.2    Ho, A.3    Gurley, K.4    Kingsley, D.5    Wright, G.D.6
  • 24
    • 0141788321 scopus 로고    scopus 로고
    • Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease
    • Williams C.J., Pendleton A., Bonavita G., Reginato A.J., Hughes A.E., and Peariso S. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease Arthritis Rheum 48 2003 2627 2631
    • (2003) Arthritis Rheum , vol.48 , pp. 2627-2631
    • Williams, C.J.1    Pendleton, A.2    Bonavita, G.3    Reginato, A.J.4    Hughes, A.E.5    Peariso, S.6
  • 25
    • 0035041718 scopus 로고    scopus 로고
    • Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia
    • Nurnberg P., Thiele H., Chandler D., Hohne W., Cunningham M.L., and Ritter H. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia Nature Gen 28 2001 37 41
    • (2001) Nature Gen , vol.28 , pp. 37-41
    • Nurnberg, P.1    Thiele, H.2    Chandler, D.3    Hohne, W.4    Cunningham, M.L.5    Ritter, H.6
  • 26
    • 0034987026 scopus 로고    scopus 로고
    • Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK
    • Reichenberger E., Tiziani V., Watanabe S., Park L., Ueki Y., and Santanna C. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK Am J Hum Gen 68 2001 1321 1326
    • (2001) Am J Hum Gen , vol.68 , pp. 1321-1326
    • Reichenberger, E.1    Tiziani, V.2    Watanabe, S.3    Park, L.4    Ueki, Y.5    Santanna, C.6
  • 27
    • 0028971082 scopus 로고
    • Interleukin 1beta suppresses transforming growth factor-induced inorganic pyrophosphate (PPi) production and expression of the PPi-generating enzyme PC-1 in human chondrocytes
    • Lotz M., Rosen F., McCabe G., Quach J., Blanco F., and Dudler J. Interleukin 1beta suppresses transforming growth factor-induced inorganic pyrophosphate (PPi) production and expression of the PPi-generating enzyme PC-1 in human chondrocytes Proc Natl Acad Sci USA 92 1995 10364 10368
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 10364-10368
    • Lotz, M.1    Rosen, F.2    McCabe, G.3    Quach, J.4    Blanco, F.5    Dudler, J.6
  • 28
    • 0033495036 scopus 로고    scopus 로고
    • Differential mechanisms of inorganic pyrophosphate production by plasma cell membrane glycoprotein-1 and B10 in chondrocytes
    • Johnson K., Vaingankar S., Chen Y., Moffa A., Goldring M.B., and Sano K. Differential mechanisms of inorganic pyrophosphate production by plasma cell membrane glycoprotein-1 and B10 in chondrocytes Arthritis Rheum 42 1999 1986 1997
    • (1999) Arthritis Rheum , vol.42 , pp. 1986-1997
    • Johnson, K.1    Vaingankar, S.2    Chen, Y.3    Moffa, A.4    Goldring, M.B.5    Sano, K.6
  • 29
    • 0035189407 scopus 로고    scopus 로고
    • Polypeptide growth factors and phorbol ester induce progressive ankylosis (ank) gene expression in murine and human fibroblasts
    • Guo Y., Hsu D.K., Feng S.L., Richards C.M., and Winkles J.A. Polypeptide growth factors and phorbol ester induce progressive ankylosis (ank) gene expression in murine and human fibroblasts J Cell Biochem 84 2001 27 38
    • (2001) J Cell Biochem , vol.84 , pp. 27-38
    • Guo, Y.1    Hsu, D.K.2    Feng, S.L.3    Richards, C.M.4    Winkles, J.A.5
  • 30
    • 0036899815 scopus 로고    scopus 로고
    • Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease
    • Hirose J., Ryan L.M., and Masuda I. Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease Arthritis Rheum 46 2002 3218 3229
    • (2002) Arthritis Rheum , vol.46 , pp. 3218-3229
    • Hirose, J.1    Ryan, L.M.2    Masuda, I.3
  • 31
    • 0025780585 scopus 로고
    • Transforming growth factor 1 stimulates inorganic pyrophosphate elaboration by porcine cartilage
    • Rosenthal A.K., Cheung H.S., and Ryan L.M. Transforming growth factor 1 stimulates inorganic pyrophosphate elaboration by porcine cartilage Arthritis Rheum 34 1991 904 911
    • (1991) Arthritis Rheum , vol.34 , pp. 904-911
    • Rosenthal, A.K.1    Cheung, H.S.2    Ryan, L.M.3
  • 32
    • 12244307898 scopus 로고    scopus 로고
    • Transforming growth factor- levels in synovial fluid of osteoarthritis with or without calcium pyrophosphate dehydrate crystals (letter)
    • Punzi L., Oliviero F., and Ramonda R. Transforming growth factor- levels in synovial fluid of osteoarthritis with or without calcium pyrophosphate dehydrate crystals (letter) J Rheumatol 30 2003 420
    • (2003) J Rheumatol , vol.30 , pp. 420
    • Punzi, L.1    Oliviero, F.2    Ramonda, R.3


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