Modulators of networks: Molecular targets of arterial calcification identified in man and mice

Current Pharmaceutical Design

Volumn 20, Issue 37, 2014, Pages 5839-5852

  Nitschke, Yvonne ^a   Rutsch, Frank ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

ABCC6; Arterial calcification; ENPP1; GACI; PXE

Indexed keywords

ADENOSINE TRIPHOSPHATE; ADIPONECTIN; FAMILY WITH SEQUENCE SIMILARITY 20 MEMBER A; FETUIN; OSTEOCALCIN; OSTEOPROTEGERIN; PROTEIN; PYROPHOSPHATE; SMAD6 PROTEIN; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR; CALCITRIOL RECEPTOR; DIPHOSPHORIC ACID; PYROPHOSPHORIC ACID DERIVATIVE;

ARTERY CALCIFICATION; ARTICLE; ENZYME METABOLISM; GENE MUTATION; HUMAN; IN VIVO STUDY; INTRACELLULAR SIGNALING; MOLECULAR BIOLOGY; MOLECULAR PATHOLOGY; NONHUMAN; PATHOPHYSIOLOGY; PHOSPHATE METABOLISM; SIGNAL TRANSDUCTION; ANIMAL; BLOOD VESSEL CALCIFICATION; GENETICS; METABOLISM; MOUSE;

ADENOSINE TRIPHOSPHATE; ANIMALS; DIPHOSPHATES; HUMANS; MICE; RECEPTORS, CALCITRIOL; SIGNAL TRANSDUCTION; VASCULAR CALCIFICATION;

EID: 84911494190     PISSN: 13816128     EISSN: 18734286     Source Type: Journal    
DOI: 10.2174/1381612820666140212193330     Document Type: Article

References (146)

1. Wilson PW, Kauppila LI, O’Donnell CJ, et al. Abdominal aortic calcific deposits are an important predictor of vascular morbidity and mortality. Circulation 2001; 103(11): 1529-34.
2. Wayhs R, Zelinger A, Raggi P. High coronary artery calcium scores pose an extremely elevated risk for hard events. J Am Coll Cardiol 2002; 39(2): 225-30.
3. Niskanen LK, Suhonen M, Siitonen O, Lehtinen JM, Uusitupa MI. Aortic and lower limb artery calcification in type 2 (non-insulin-dependent) diabetic patients and non-diabetic control subjects. A five year follow-up study. Atherosclerosis 1990; 84(1): 61-71.
4. Weissen-Plenz G, Nitschke Y, Rutsch F. Mechanisms of arterial calcification: spotlight on the inhibitors. Adv Clin Chem 2008; 46: 263-93.
5. Kalra SS, Shanahan CM. Vascular calcification and hypertension: cause and effect. Ann Med 2012 Jun; 44 Suppl 1: S85-S92.
6. Proudfoot D, Shanahan CM, Weissberg PL. Vascular calcification: new insights into an old problem. J Pathol 1998; 185(1): 1-3.
7. Tintut Y, Patel J, Parhami F, Demer LL. Tumor necrosis factor-alpha promotes in vitro calcification of vascular cells via the cAMP pathway. Circulation 2000; 102(21): 2636-42.
8. Tintut Y, Alfonso Z, Saini T, et al. Multilineage potential of cells from the artery wall. Circulation 2003; 108(20): 2505-10.
9. Tyson KL, Reynolds JL, McNair R, Zhang Q, Weissberg PL, Shanahan CM. Osteo/chondrocytic transcription factors and their target genes exhibit distinct patterns of expression in human arterial calcification. Arterioscler Thromb Vasc Biol 2003 Mar 1; 23(3): 489-94.
10. Bini A, Mann KG, Kudryk BJ, Schoen FJ. Noncollagenous bone matrix proteins, calcification, and thrombosis in carotid artery atherosclerosis. Arterioscler Thromb Vasc Biol 1999; 19(8): 1852-61.
11. Dhore CR, Cleutjens JP, Lutgens E, et al. Differential expression of bone matrix regulatory proteins in human atherosclerotic plaques. Arterioscler Thromb Vasc Biol 2001; 21(12): 1998-2003.
12. Pendleton A, Johnson MD, Hughes A, et al. Mutations in ANKH cause chondrocalcinosis. Am J Hum Genet 2002; 71(4): 933-40.
13. Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, Ikegawa S. Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine. Nat Genet 1998; 19(3): 271-3.
14. Hosoda Y, Yoshimura Y, Higaki S. A new breed of mouse showing multiple osteochondral lesions--twy mouse. Ryumachi 1981; 21 Suppl: 157-64.
15. Li Q, Guo H, Chou DW, Berndt A, Sundberg JP, Uitto J. Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy. Dis Model Mech 2013; 6(5): 1227-35.
16. Johnson K, Polewski M, van Etten D., Terkeltaub R. Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/-mice. Arterioscler Thromb Vasc Biol 2005; 25(4): 686-91.
17. Rutsch F, Ruf N, Vaingankar S, et al. Mutations in ENPP1 are associated with ’idiopathic’ infantile arterial calcification. Nat Genet 2003; 34(4): 379-81.
18. Rutsch F, Boyer P, Nitschke Y, et al. Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy. Circ Cardiovasc Genet 2008; 1(2): 133-40.
19. Cheng KS, Chen MR, Ruf N, Lin SP, Rutsch F. Generalized arterial calcification of infancy: different clinical courses in two affected siblings. Am J Med Genet A 2005; 136(2): 210-3.
20. Ciana G, Trappan A, Bembi B, et al. Generalized arterial calcification of infancy: two siblings with prolonged survival. Eur J Pediatr 2006; 165(4): 258-63.
21. Dlamini N, Splitt M, Durkan A, et al. Generalized arterial calcification of infancy: phenotypic spectrum among three siblings including one case without obvious arterial calcifications. Am J Med Genet A 2009; 149A(3): 456-60.
22. Levy-Litan V, Hershkovitz E, Avizov L, et al. Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 2010; 86(2): 273-8.
23. Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 2010; 86(2): 267-72.
24. Lee JE, Choi YK, Seo HA, et al. Impact of ENPP1 and MMP3 gene polymorphisms on aortic calcification in patients with type 2 diabetes in a Korean population. Diabetes Res Clin Pract 2010; 88(1): 87-96.
25. Eller P, Hochegger K, Feuchtner GM, et al. Impact of ENPP1 genotype on arterial calcification in patients with end-stage renal failure. Nephrol Dial Transplant 2008; 23(1): 321-7.
26. Jeong DJ, Lee DG, Kim HJ, Cho EH, Kim SW. ENPP1 K121Q Genotype Not Associated with Coronary Artery Calcification in Korean Patients with Type 2 Diabetes Mellitus. Korean Diabetes J 2010; 34(5): 320-6.
27. Tanyolac S, Mahley RW, Hodoglugil U, Goldfine ID. Gender differences in the relationship of ENPP1/PC-1 variants to obesity in a Turkish population. Obesity (Silver Spring) 2008; 16(11): 2468-71.
28. Nitschke Y, Hartmann S, Torsello G, et al. Expression of NPP1 is regulated during atheromatous plaque calcification. J Cell Mol Med 2011; 15(2): 220-31.
29. Nitschke Y, Weissen-Plenz G, Terkeltaub R, Rutsch F. Npp1 promotes atherosclerosis in ApoE knockout mice. J Cell Mol Med 2011; 15(11): 2273-83.
30. Ringpfeil F, Pulkkinen L, Uitto J. Molecular genetics of pseudoxanthoma elasticum. Exp Dermatol 2001; 10(4): 221-8.
31. Miksch S, Lumsden A, Guenther UP, et al. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat 2005 Sep; 26(3): 235-48.
32. Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 2000; 25(2): 228-31.
33. Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet 2000; 25(2): 223-7.
34. Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A 2000; 97(11): 6001-6.
35. Struk B, Cai L, Zach S, et al. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl) 2000; 78(5): 282-6.
36. Aherrahrou Z, Doehring LC, Ehlers EM, et al. An alternative splice variant in Abcc6, the gene causing dystrophic calcification, leads to protein deficiency in C3H/He mice. J Biol Chem 2008; 283(12): 7608-15.
37. Doehring LC, Kaczmarek PM, Ehlers E, et al. Arterial calcification in mice after freeze-thaw injury. Ann Anat 2006; 188(3): 235-42.
38. Pfendner EG, Vanakker OM, Terry SF, et al. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet 2007; 44(10): 621-8.
39. Li Q, Jiang Q, Schurgers LJ, Uitto J. Pseudoxanthoma elasticum: reduced gamma-glutamyl carboxylation of matrix gla protein in a mouse model (Abcc6-/-). Biochem Biophys Res Commun 2007; 364(2): 208-13.
40. Le Boulanger G, Labreze C, Croue A, et al. An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. Am J Med Genet A 2010; 152A(1): 118-23.
41. Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol 2009; 18(1): 1-11.
42. Jiang Q, Dibra F, Lee MD, Oldenburg R, Uitto J. Overexpression of fetuin-a counteracts ectopic mineralization in a mouse model of pseudoxanthoma elasticum (abcc6(-/-)). J Invest Dermatol 2010; 130(5): 1288-96.
43. Borst P, van de Wetering K, Schlingemann R. Does the absence of ABCC6 (multidrug resistance protein 6) in patients with Pseudoxanthoma elasticum prevent the liver from providing sufficient vitamin K to the periphery? Cell Cycle 2008; 7(11): 1575-9.
44. Jiang Q, Li Q, Grand-Pierre AE, Schurgers LJ, Uitto J. Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum. Cell Cycle 2011; 10(4): 701-7.
45. Nitschke Y, Baujat G, Botschen U, et al. Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet 2012; 90(1): 25-39.
46. Li Q, Schumacher W, Jablonski D, Siegel D, Uitto J. Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol 2012; 166(5): 1107-11.
47. Ho AM, Johnson MD, Kingsley DM. Role of the mouse ank gene in control of tissue calcification and arthritis. Science 2000; 289(5477): 265-70.
48. Costello JC, Rosenthal AK, Kurup IV, Masuda I, Medhora M, Ryan LM. Parallel regulation of extracellular ATP and inorganic pyrophosphate: roles of growth factors, transduction modulators, and ANK. Connect Tissue Res 2011; 52(2): 139-46.
49. Nurnberg P, Thiele H, Chandler D, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet 2001; 28(1): 37-41.
50. Reichenberger E, Tiziani V, Watanabe S, et al. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet 2001; 68(6): 1321-6.
51. Williams CJ, Zhang Y, Timms A, et al. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. Am J Hum Genet 2002; 71(4): 985-91.
52. St Hilaire C., Ziegler SG, Markello TC, et al. NT5E mutations and arterial calcifications. N Engl J Med 2011 Feb 3; 364(5): 432-42.
53. Markello TC, Pak LK, St HC, et al. Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum. Mol Genet Metab 2011; 103(1): 44-50.
54. Szabo Z, Varadi A, Li Q, Uitto J. ABCC6 does not transport adenosine-relevance to pathomechanism of pseudoxanthoma elasticum. Mol Genet Metab 2011; 104(3): 421.
55. Dai X, Gao Y, Xu Z, et al. Identification of a novel genetic locus on chromosome 8p21. 1-q11. 23 for idiopathic basal ganglia calcification. Am J Med Genet B Neuropsychiatr Genet 2010; 153B(7): 1305-10.
56. Wang C, Li Y, Shi L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nat Genet 2012; 44(3): 254-6.
57. Lagrue E, Abe H, Lavanya M, et al. Regional characterization of energy metabolism in the brain of normal and MPTP-intoxicated mice using new markers of glucose and phosphate transport. J Biomed Sci 2010; 17: 91.
58. Lau WL, Festing MH, Giachelli CM. Phosphate and vascular calcification: Emerging role of the sodium-dependent phosphate co-transporter PiT-1. Thromb Haemost 2010; 104(3): 464-70.
59. Nicolas G, Pottier C, Maltete D, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013; 80(2): 181-7.
60. Villa-Bellosta R, Levi M, Sorribas V. Vascular smooth muscle cell calcification and SLC20 inorganic phosphate transporters: effects of PDGF, TNF-alpha, and Pi. Pflugers Arch 2009; 458(6): 1151-61.
61. De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003; 300(5628): 2055.
62. Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423(6937): 293-8.
63. Schreiber KH, Kennedy BK. When lamins go bad: nuclear structure and disease. Cell 2013; 152(6): 1365-75.
64. Andres V, Gonzalez JM. Role of A-type lamins in signaling, transcription, and chromatin organization. J Cell Biol 2009; 187(7): 945-57.
65. Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 2006; 140(23): 2603-24.
66. Nair K, Ramachandran P, Krishnamoorthy KM, Dora S, Achuthan TJ. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis and calcific mitral valve. J Heart Valve Dis 2004; 13(5): 866-9.
67. Salamat M, Dhar PK, Neagu DL, Lyon JB. Aortic calcification in a patient with hutchinson-gilford progeria syndrome. Pediatr Cardiol 2010; 31(6): 925-6.
68. Hanumanthappa NB, Madhusudan G, Mahimarangaiah J, Manjunath CN. Hutchinson-Gilford progeria syndrome with severe calcific aortic valve stenosis. Ann Pediatr Cardiol 2011; 4(2): 204-6.
69. Villa-Bellosta R, Rivera-Torres J, Osorio FG, et al. Defective extracellular pyrophosphate metabolism promotes vascular calcification in a mouse model of Hutchinson-Gilford progeria syndrome that is ameliorated on pyrophosphate treatment. Circulation 2013; 127(24): 2442-51.
70. Olive M, Harten I, Mitchell R, et al. Cardiovascular pathology in Hutchinson-Gilford progeria: correlation with the vascular pathology of aging. Arterioscler Thromb Vasc Biol 2010; 30(11): 2301-9.
71. Najjar SS, Farah FS, Kurban AK, Melhem RE, Khatchadourian AK. Tumoral calcinosis and pseudoxanthoma elasticum. J Pediatr 1968; 72(2): 243-7.
72. Adams WM, Laitt RD, Davies M, O’Donovan DG. Familial tumoral calcinosis: association with cerebral and peripheral aneurysm formation. Neuroradiology 1999; 41(5): 351-5.
73. Benet-Pages A, Orlik P, Strom TM, Lorenz-Depiereux B. An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. Hum Mol Genet 2005; 14(3): 385-90.
74. Ichikawa S, Imel EA, Kreiter ML, et al. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. J Clin Invest 2007; 117(9): 2684-91.
75. Topaz O, Shurman DL, Bergman R, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 2004; 36(6): 579-81.
76. Imel EA, Econs MJ. Fibroblast growth factor 23: roles in health and disease. J Am Soc Nephrol 2005; 16(9): 2565-75.
77. White KE, Carn G, Lorenz-Depiereux B, Benet-Pages A, Strom TM, Econs MJ. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int 2001; 60(6): 2079-86.
78. Kato K, Jeanneau C, Tarp MA, et al. Polypeptide GalNAc-transferase T3 and familial tumoral calcinosis. Secretion of fibroblast growth factor 23 requires O-glycosylation. J Biol Chem 2006; 281(27): 18370-7.
79. Kurosu H, Ogawa Y, Miyoshi M, et al. Regulation of fibroblast growth factor-23 signaling by klotho. J Biol Chem 2006; 281(10): 6120-3.
80. Urakawa I, Yamazaki Y, Shimada T, et al. Klotho converts canonical FGF receptor into a specific receptor for FGF23. Nature 2006; 444(7120): 770-4.
81. Kuro-o M, Matsumura Y, Aizawa H, et al. Mutation of the mouse klotho gene leads to a syndrome resembling ageing. Nature 1997; 390(6655): 45-51.
82. Kurosu H, Yamamoto M, Clark JD, et al. Suppression of aging in mice by the hormone Klotho. Science 2005; 309(5742): 1829-33.
83. Tsujikawa H, Kurotaki Y, Fujimori T, Fukuda K, Nabeshima Y. Klotho, a gene related to a syndrome resembling human premature aging, functions in a negative regulatory circuit of vitamin D endocrine system. Mol Endocrinol 2003; 17(12): 2393-403.
84. Yoshida T, Fujimori T, Nabeshima Y. Mediation of unusually high concentrations of 1, 25-dihydroxyvitamin D in homozygous klotho mutant mice by increased expression of renal 1alpha-hydroxylase gene. Endocrinology 2002; 143(2): 683-9.
85. Shimada T, Kakitani M, Yamazaki Y, et al. Targeted ablation of Fgf23 demonstrates an essential physiological role of FGF23 in phosphate and vitamin D metabolism. J Clin Invest 2004; 113(4): 561-8.
86. Esapa CT, Head RA, Jeyabalan J, et al. A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis. PLoS One 2012; 7(8): e43205.
87. Ichikawa S, Sorenson AH, Austin AM, et al. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology 2009; 150(6): 2543-50.
88. Ignat M, Teletin M, Tisserand J, et al. Arterial calcifications and increased expression of vitamin D receptor targets in mice lacking TIF1alpha. Proc Natl Acad Sci U S A 2008; 105(7): 2598-603.
89. Hough TA, Bogani D, Cheeseman MT, et al. Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification. Proc Natl Acad Sci U S A 2004; 101(37): 13566-71.
90. Lien YH, Lai LW. Respiratory acidosis in carbonic anhydrase II-deficient mice. Am J Physiol 1998; 274(2 Pt 1): L301-L304.
91. Blair HC, Teitelbaum SL, Ghiselli R, Gluck S. Osteoclastic bone resorption by a polarized vacuolar proton pump. Science 1989; 245(4920): 855-7.
92. Roth DE, Venta PJ, Tashian RE, Sly WS. Molecular basis of human carbonic anhydrase II deficiency. Proc Natl Acad Sci U S A 1992; 89(5): 1804-8.
93. Sly WS, Hewett-Emmett D, Whyte MP, Yu YS, Tashian RE. 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 U S A 1983; 80(9): 2752-6.
94. Lewis SE, Erickson RP, Barnett LB, Venta PJ, Tashian RE. N-ethyl-N-nitrosourea-induced null mutation at the mouse Car-2 locus: an animal model for human carbonic anhydrase II deficiency syndrome. Proc Natl Acad Sci U S A 1988; 85(6): 1962-6.
95. Spicer SS, Lewis SE, Tashian RE, Schulte BA. Mice carrying a CAR-2 null allele lack carbonic anhydrase II immunohistochemically and show vascular calcification. Am J Pathol 1989; 134(4): 947-54.
96. Heiss A, DuChesne A, Denecke B, et al. Structural basis of calcification inhibition by alpha 2-HS glycoprotein/fetuin-A. Formation of colloidal calciprotein particles. J Biol Chem 2003; 278(15): 13333-41.
97. Schafer C, Heiss A, Schwarz A, et al. The serum protein alpha 2-Heremans-Schmid glycoprotein/fetuin-A is a systemically acting inhibitor of ectopic calcification. J Clin Invest 2003; 112(3): 357-66.
98. Jahnen-Dechent W, Schafer C, Ketteler M, McKee MD. Mineral chaperones: a role for fetuin-A and osteopontin in the inhibition and regression of pathologic calcification. J Mol Med (Berl) 2008; 86(4): 379-89.
99. Westenfeld R, Schafer C, Kruger T, et al. Fetuin-A protects against atherosclerotic calcification in CKD. J Am Soc Nephrol 2009; 20(6): 1264-74.
100. Westenfeld R, Schafer C, Smeets R, et al. Fetuin-A (AHSG) prevents extraosseous calcification induced by uraemia and phosphate challenge in mice. Nephrol Dial Transplant 2007; 22(6): 1537-46.
101. Jahnen-Dechent W, Schinke T, Trindl A, et al. Cloning and targeted deletion of the mouse fetuin gene. J Biol Chem 1997; 272(50): 31496-503.
102. Munroe PB, Olgunturk RO, Fryns JP, et al. Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet 1999; 21(1): 142-4.
103. Meier M, Weng LP, Alexandrakis E, Ruschoff J, Goeckenjan G. Tracheobronchial stenosis in Keutel syndrome. Eur Respir J 2001; 17(3): 566-9.
104. El-Maadawy S, Kaartinen MT, Schinke T, Murshed M, Karsenty G, McKee MD. Cartilage formation and calcification in arteries of mice lacking matrix Gla protein. Connect Tissue Res 2003; 44 Suppl 1: 272-8.
105. Luo G, Ducy P, McKee MD, et al. Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 1997; 386(6620): 78-81.
106. Speer MY, Yang HY, Brabb T, et al. Smooth muscle cells give rise to osteochondrogenic precursors and chondrocytes in calcifying arteries. Circ Res 2009; 104(6): 733-41.
107. Leroux-Berger M, Queguiner I, Maciel TT, Ho A, Relaix F, Kempf H. Pathologic calcification of adult vascular smooth muscle cells differs on their crest or mesodermal embryonic origin. J Bone Miner Res 2011; 26(7): 1543-53.
108. Zebboudj AF, Imura M, Bostrom K. Matrix GLA protein, a regulatory protein for bone morphogenetic protein-2. J Biol Chem 2002; 277(6): 4388-94.
109. Zebboudj AF, Shin V, Bostrom K. Matrix GLA protein and BMP-2 regulate osteoinduction in calcifying vascular cells. J Cell Biochem 2003; 90(4): 756-65.
110. Loeser R, Carlson CS, Tulli H, Jerome WG, Miller L, Wallin R. Articular-cartilage matrix gamma-carboxyglutamic acid-containing protein. Characterization and immunolocalization. Biochem J 1992; 282 (Pt 1): 1-6.
111. Simonet WS, Lacey DL, Dunstan CR, et al. Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 1997; 89(2): 309-19.
112. Tsuda E, Goto M, Mochizuki S, et al. Isolation of a novel cytokine from human fibroblasts that specifically inhibits osteoclastogenesis. Biochem Biophys Res Commun 1997; 234(1): 137-42.
113. Bucay N, Sarosi I, Dunstan CR, et al. osteoprotegerin-deficient mice develop early onset osteoporosis and arterial calcification. Genes Dev 1998; 12(9): 1260-8.
114. Orita Y, Yamamoto H, Kohno N, et al. Role of osteoprotegerin in arterial calcification: development of new animal model. Arterioscler Thromb Vasc Biol 2007; 27(9): 2058-64.
115. Min H, Morony S, Sarosi I, et al. Osteoprotegerin reverses osteoporosis by inhibiting endosteal osteoclasts and prevents vascular calcification by blocking a process resembling osteoclastogenesis. J Exp Med 2000; 192(4): 463-74.
116. Ralston SH. Clinical practice. Paget’s disease of bone. N Engl J Med 2013; 368(7): 644-50.
117. Kadowaki T, Yamauchi T. Adiponectin and adiponectin receptors. Endocr Rev 2005; 26(3): 439-51.
118. Luo XH, Zhao LL, Yuan LQ, Wang M, Xie H, Liao EY. Development of arterial calcification in adiponectin-deficient mice: adiponectin regulates arterial calcification. J Bone Miner Res 2009; 24(8): 1461-8.
119. Vogel P, Hansen GM, Read RW, et al. Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice. Vet Pathol 2012; 49(6): 998-1017.
120. O’Sullivan J, Bitu CC, Daly SB, et al. Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome. Am J Hum Genet 2011; 88(5): 616-20.
121. Afrakhte M, Moren A, Jossan S, et al. Induction of inhibitory Smad6 and Smad7 mRNA by TGF-beta family members. Biochem Biophys Res Commun 1998; 249(2): 505-11.
122. Goto K, Kamiya Y, Imamura T, Miyazono K, Miyazawa K. Selective inhibitory effects of Smad6 on bone morphogenetic protein type I receptors. J Biol Chem 2007; 282(28): 20603-11.
123. Galvin KM, Donovan MJ, Lynch CA, et al. A role for smad6 in development and homeostasis of the cardiovascular system. Nat Genet 2000; 24(2): 171-4.
124. Tan HL, Glen E, Topf A, et al. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat 2012; 33(4): 720-7.
125. Rutsch F, Nitschke Y, Terkeltaub R. Genetics in arterial calcification: pieces of a puzzle and cogs in a wheel. Circ Res 2011; 109(5): 578-92.
126. Johnson K, Polewski M, van ED, Terkeltaub R. Chondrogenesis mediated by PPi depletion promotes spontaneous aortic calcification in NPP1-/-mice. Arterioscler Thromb Vasc Biol 2005; 25(4): 686-91.
127. Murshed M, Harmey D, Millan JL, McKee MD, Karsenty G. Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone. Genes Dev 2005; 19(9): 1093-104.
128. Huang MS, Sage AP, Lu J, Demer LL, Tintut Y. Phosphate and pyrophosphate mediate PKA-induced vascular cell calcification. Biochem Biophys Res Commun 2008; 374(3): 553-8.
129. Narisawa S, Harmey D, Yadav MC, O’Neill WC, Hoylaerts MF, Millan JL. Novel inhibitors of alkaline phosphatase suppress vascular smooth muscle cell calcification. J Bone Miner Res 2007; 22(11): 1700-10.
130. O’Neill WC, Sigrist MK, McIntyre CW. Plasma pyrophosphate and vascular calcification in chronic kidney disease. Nephrol Dial Transplant 2010; 25(1): 187-91.
131. Villa-Bellosta R, Wang X, Millan JL, Dubyak GR, O’Neill WC. Extracellular pyrophosphate metabolism and calcification in vascular smooth muscle. Am J Physiol Heart Circ Physiol 2011 Apr 13.
132. Hessle L, Johnson KA, Anderson HC, et al. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 2002; 99(14): 9445-9.
133. Meradji M, de Villeneuve VH, Huber J, de Bruijn WC, Pearse RG. Idiopathic infantile arterial calcification in siblings: radiologic diagnosis and successful treatment. J Pediatr 1978; 92(3): 401-5.
134. Ramjan KA, Roscioli T, Rutsch F, Sillence D, Munns CF. Generalized arterial calcification of infancy: treatment with bisphosphonates. Nat Clin Pract Endocrinol Metab 2009; 5(3): 167-72.
135. Hessle L, Johnson KA, Anderson HC, et al. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proc Natl Acad Sci U S A 2002; 99(14): 9445-9.
136. Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol 2005; 166(6): 1711-20.
137. Villa-Bellosta R, Wang X, Millan JL, Dubyak GR, O’Neill WC. Extracellular pyrophosphate metabolism and calcification in vascular smooth muscle. Am J Physiol Heart Circ Physiol 2011; 301(1): H61-8.
138. Raggi P, Boulay A, Chasan-Taber S, et al. Cardiac calcification in adult hemodialysis patients. A link between end-stage renal disease and cardiovascular disease? J Am Coll Cardiol 2002; 39(4): 695-701.
139. Phan O, Ivanovski O, Nguyen-Khoa T, et al. Sevelamer prevents uremia-enhanced atherosclerosis progression in apolipoprotein E-deficient mice. Circulation 2005; 112(18): 2875-82.
140. Persy VP, Behets GJ, Bervoets AR, De Broe ME, D’Haese PC. Lanthanum: a safe phosphate binder. Semin Dial 2006; 19(3): 195-9.
141. Schlieper G, Brandenburg V, Ketteler M, Floege J. Sodium thiosulfate in the treatment of calcific uremic arteriolopathy. Nat Rev Nephrol 2009; 5(9): 539-43.
142. Henry HL. Regulation of vitamin D metabolism. Best Pract Res Clin Endocrinol Metab 2011; 25(4): 531-41.
143. Peterlik M, Kallay E, Cross HS. Calcium nutrition and extracellular calcium sensing: relevance for the pathogenesis of osteoporosis, cancer and cardiovascular diseases. Nutrients 2013; 5(1): 302-27.
144. Coccia PF, Krivit W, Cervenka J, et al. Successful bone-marrow transplantation for infantile malignant osteopetrosis. N Engl J Med 1980; 302(13): 701-8.
145. Lo Iacono N, Blair HC, Poliani PL, et al. Osteopetrosis rescue upon RANKL administration to Rankl(-/-) mice: a new therapy for human RANKL-dependent ARO. J Bone Miner Res 2012; 27(12): 2501-10.
146. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet 2000; 26(3): 345-8.