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  • 1
    Elcioglu N, Hall CM 1998 Temporal aspects in craniometaphyseal dysplasia: Autosomal recessive type. Am J Med Genet 76: 245251.
  • 2
    Ramseyer LT, Leonard JC, Stacy TM 1993 Bone scan findings in craniometaphyseal dysplasia. Clin Nucl Med 18: 137139.
  • 3
    Fanconi S, Fischer JA, Wieland P, Giedion A, Boltshauser E, Olah AJ, Landolt AM, Prader A 1988 Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: Therapeutic effect of calcitonin. J Pediatr 112: 587591.
  • 4
    Haverkamp F, Emons D, Straehler-Pohl HJ, Zerres K 1996 Craniometaphyseal dysplasia as a rare cause of a severe neonatal nasal obstruction. Int J Pediatr Otorhinolaryngol 34: 159164.
  • 5
    Key LL Jr , Volberg F, Baron R, Anast CS 1988 Treatment of craniometaphyseal dysplasia with calcitriol. J Pediatr 112: 583587.
  • 6
    Cheung VG, Boechat MI, Barrett CT 1997 Bilateral choanal narrowing as a presentation of craniometaphyseal dysplasia. J Perinatol 17: 241243.
  • 7
    Schwahn B, Schaper J, Herkenrath P, Michel O, Schoenau E 1996 Autosomal-dominante kraniometaphysaere dysplasie. Monatsschr Kinderheilkd 144: 10731077.
  • 8
    Langer LO Jr , Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL 1991 Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radiol 20: 3741.
  • 9
    Richards A, Brain C, Dillon MJ, Bailey CM 1996 Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management. J Laryngol Otol 110: 328338.
  • 10
    Halliday J 1949 A rare case of bone dystrophy. Br J Surg 37: 5263.
  • 11
    Jackson WPU, Albright F, Drewery G, Hanelin J, Rubin ML 1954 Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia and related conditions. Arch Intern Med 94: 871885.
  • 12
    Millard DR Jr , Maisels DO, Batstone JH, Yates BW 1967 Craniofacial surgery in craniometaphyseal dysplasia. Am J Surg 113: 615621.
  • 13
    Yamamoto T, Kurihara N, Yamaoka K, Ozono K, Okada M, Yamamoto K, Matsumoto S, Michigami T, Ono J, Okada S 1993 Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump. J Clin Invest 91: 362367.
  • 14
    Gorlin RJ, Anderson RC, Blaw M 1969 Multiple lentigenes syndrome. Am J Dis Child 117: 652662.
  • 15
    Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR 2001 Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 68: 13211326.
  • 16
    Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S 2001 Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 28: 3741.
  • 17
    Pendleton A, Johnson MD, Hughes A, Gurley KA, Ho AM, Doherty M, Dixey J, Gillet P, Loeuille D, McGrath R, Reginato A, Shiang R, Wright G, Netter P, Williams C, Kingsley DM 2002 Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 71: 933940.
  • 18
    Williams CJ, Zhang Y, Timms A, Bonavita G, Caeiro F, Broxholme J, Cuthbertson J, Jones Y, Marchegiani R, Reginato A, Russell RG, Wordsworth BP, Carr AJ, Brown MA 2002 Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 71: 985991.
  • 19
    Zaka R, Stokes D, Dion AS, Kusnierz A, Han F, Williams CJ 2006 P5L mutation in Ank results in an increase in extracellular inorganic pyrophosphate during proliferation and nonmineralizing hypertrophy in stably transduced ATDC5 cells. Arthritis Res Ther 8: R164.
  • 20
    Ho AM, Johnson MD, Kingsley DM 2000 Role of the mouse ank gene in control of tissue calcification and arthritis. Science 289: 265270.
  • 21
    Carr G, Sayer JA, Simmons NL 2007 Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cell Physiol Biochem 20: 507516.
  • 22
    Gurley KA, Chen H, Guenther C, Nguyen ET, Rountree RB, Schoor M, Kingsley DM 2006 Mineral formation in joints caused by complete or joint-specific loss of ANK function. J Bone Miner Res 21: 12381247.
  • 23
    Sweet HO, Green MC 1981 Progressive ankylosis, a new skeletal mutation in the mouse. J Hered 72: 8793.
  • 24
    Hakim FT, Cranley R, Brown KS, Eanes ED, Harne L, Oppenheim JJ 1984 Hereditary joint disorder in progressive ankylosis (ank/ank) mice. I. Association of calcium hydroxyapatite deposition with inflammatory arthropathy. Arthritis Rheum 27: 14111420.
  • 25
    Gurley KA, Reimer RJ, Kingsley DM 2006 Biochemical and genetic analysis of ANK in arthritis and bone disease. Am J Hum Genet 79: 10171029.
  • 26
    Hausamen TUHW, Rick W Gross W 1967 Optimal conditions for the determination of serum alkaline phosphatase by a new kinetic method. Clin Chim Acta 15:241245.
  • 27
    Parfitt AM, Drezner MK, Glorieux FH, Kanis JA, Malluche H, Meunier PJ, Ott SM, Recker RR 1987 Bone histomorphometry: Standardization of nomenclature, symbols, and units. Report of the ASBMR Histomorphometry Nomenclature Committee. J Bone Miner Res 2: 595610.
  • 28
    Gorlin RJ, Cohen MM Jr , Hennekam RCM 2001 Syndromes of the Head and Neck, 4th ed. Oxford Press, New York, NY, USA.
  • 29
    Carnevale A, Grether P, del Castillo V, Takenaga R, Orzechowski A 1983 Autosomal dominant craniometaphyseal dysplasia. Clinical variability. Clin Genet 23: 1722.
  • 30
    Sheppard WM, Shprintzen RJ, Tatum SA, Woods CI 2003 Craniometaphyseal dysplasia: A case report and review of medical and surgical management. Int J Pediatr Otorhinolaryngol 67: 7177.
  • 31
    Chipman SD, Sweet HO, McBride DJ Jr , Davisson MT, Marks SC Jr , Shuldiner AR, Wenstrup RJ, Rowe DW, Shapiro JR 1993 Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: A model of human osteogenesis imperfecta. Proc Natl Acad Sci USA 90: 17011705.
  • 32
    Ueki Y, Lin CY, Senoo M, Ebihara T, Agata N, Onji M, Saheki Y, Kawai T, Mukherjee PM, Reichenberger E, Olsen BR 2007 Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 “cherubism” mice. Cell 128: 7183.
  • 33
    Liao BY, Zhang J 2008 Null mutations in human and mouse orthologs frequently result in different phenotypes. Proc Natl Acad Sci USA 105: 69876992.
  • 34
    Seibel MJ 2000 Molecular markers of bone turnover: Biochemical, technical and analytical aspects. Osteoporos Int 11 (Suppl 6): S18S29.
  • 35
    Ott SM, O'Hanlan M, Lipkin EW, Newell-Morris L 1997 Evaluation of vertebral volumetric vs. areal bone mineral density during growth. Bone 20: 553556.
  • 36
    Knott L, Bailey AJ 1998 Collagen cross-links in mineralizing tissues: A review of their chemistry, function, and clinical relevance. Bone 22: 181187.
  • 37
    Johnson K, Terkeltaub R 2005 Inorganic pyrophosphate (PPI) in pathologic calcification of articular cartilage. Front Biosci 10: 988997.
  • 38
    Karsenty G 1999 The genetic transformation of bone biology. Genes Dev 13: 30373051.
  • 39
    Olsen BR, Reginato AM, Wang W 2000 Bone development. Annu Rev Cell Dev Biol 16: 191220.
  • 40
    Fazzalari NL, Moore AJ, Byers S, Byard RW 1997 Quantitative analysis of trabecular morphogenesis in the human costochondral junction during the postnatal period in normal subjects. Anat Rec 248: 112.
  • 41
    Shapiro F, Holtrop ME, Glimcher MJ 1977 Organization and cellular biology of the perichondrial ossification groove of ranvier: A morphological study in rabbits. J Bone Joint Surg Am 59: 703723.
  • 42
    Schollmeier G, Uhthoff HK, Lewandrowski KU, Fukuhara K 1999 Role of bone bark during growth in width of tubular bones. A study in human fetuses. Clin Orthop Relat Res 291299.