• 1
    O'Brien C 1996 Auguste D. and Alzheimer's disease. Science 273:28.
  • 2
    Kaplan FS, Craver R, MacEwen GD, Gannon FH, Finkel G, Hahn G, Tabas J, Gardner RJ, Zasloff MA 1994 Progressive osseous heteroplasia: A distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. J Bone Joint Surg Am 76:425436.
  • 3
    Kaplan FS, Shore EM 1998 Encrypted morphogens of skeletogenesis: Biological errors and pharmacologic potentials. Biochem Pharmacol 55:373382.
  • 4
    Kaplan FS, Tabas JA, Gannon FH, Finkel G, Hahn GV, Zasloff MA 1993 The histopathology of fibrodysplasia ossificans progressiva. An endochondral process. J Bone Joint Surg Am 75:220230.
  • 5
    Kaplan FS, Tabas JA, Zasloff MA 1990 Fibrodysplasia ossificans progressiva: A clue from the fly? Calcif Tissue Int 47:117125.
  • 6
    Kaplan FS 1998 Symposium: Fibrodysplasia ossificans progressiva. Clin Orthop 346:1140.
  • 7
    Kaplan FS, Shore EM, Zasloff MA 1996 Fibrodysplasia ossificans progressiva: Searching for the skeleton key. Calcif Tissue Int 59:7578.
  • 8
    Gannon FH, Valentine BA, Shore EM, Zasloff MA, Kaplan FS 1998 Acute lymphocytic infiltration in extremely early lesions of fibrodysplasia ossificans progressiva. Clin Orthop 346:1925.
  • 9
    Gannon FH, Kaplan FS, Olmsted E, Finkel GC, Zasloff M, Shore E 1997 Bone morphogenetic protein (BMP) 2/4 in early fibromatous lesions of fibrodysplasia ossificans progressiva. Hum Pathol 28:339343.
  • 10
    Shafritz AB, Shore EM, Gannon FH, Zasloff MA, Taub R, Muenke M, Kaplan FS 1996 Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva. N Engl J Med 335:555561.
  • 11
    Rogers JG, Geho WB 1979 Fibrodysplasia ossificans progressiva. A survey of forty-two cases. J Bone Joint Surg Am 61:909914.
  • 12
    Connor JM, Evans DAP 1982 Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients. J Bone Joint Surg Br 64:7683.
  • 13
    Kaplan FS, Delatycki M, Gannon FH, Rogers JG, Smith R, Shore EM 1998 Fibrodysplasia ossificans progressiva. In: EmeryAEH (ed.) Neuromuscular Disorders: Clinical and Molecular Genetics, Chapter 14. John Wiley & Sons, Ltd., Chichester, U.K., pp. 289321.
  • 14
    Kaplan FS, Hahn GV, Zasloff MA 1994 Heterotopic ossification: Two rare forms and what they can teach us. J Am Acad Orthop Surg 2:288296.
  • 15
    Kaplan FS, Smith RM 1997 Clinical vignette: Fibrodysplasia ossificans progressiva (FOP). J Bone Miner Res 12:855.
  • 16
    Cohen RB, Hahn GV, Tabas JA, Peeper J, Levitz CL, Sando A, Sando N, Zasloff M, Kaplan FS 1993 The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients. J Bone Joint Surg Am 75:215219.
  • 17
    Rocke DM, Zasloff M, Peeper J, Cohen RB, Kaplan FS 1994 Age- and joint-specific risk of initial heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. Clin Orthop 301:243248.
  • 18
    Schroeder HW, Zasloff M 1980 The hand and foot malformations in fibrodysplasia ossificans progressiva. Johns Hopkins Med J 147:7378.
  • 19
    Rosenfeld SR, Kaplan FS 1995 Progressive osseous heteroplasia in male patients. Two new case reports. Clin Orthop 317:243245.
  • 20
    Kaplan FS, Strear CM, Zasloff MA 1994 Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans progressiva. Clin Orthop 304:238247.
  • 21
    Levine MA 1996 Pseudohypoparathyroidism. In: BilezikianJP, RaiszLG, RodanGA (eds.) Principles of Bone Biology. Academic Press, New York, NY, U.S.A., pp. 853876.
  • 22
    Levine MA 1999 Pseudohypoparathyroidism: From bedside to bench and back. J Bone Miner Res 14:12551260.
  • 23
    Barranco VP 1971 Cutaneous ossification in pseudohypoparathyroidism. Arch Dermatol 104:643647.
  • 24
    Brook CG, Valman HB 1971 Osteoma cutis and Albright's hereditary osteodystrophy. Br J Dermatol 85:471475.
  • 25
    Eyre WG, Reed WB 1971 Albright's hereditary osteodystrophy with cutaneous bone formation. Arch Dermatol 104:634642.
  • 26
    Izraeli S, Metzker A, Horev G, Karmi D, Merlob P, Farfel Z 1992 Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: A family presenting with congenital osteoma cutis. Am J Med Genet 43:764767.
  • 27
    Lucky AW, Tsang R 1997 Pseudopseudohypoparathyroidism, presenting with osteoma cutis. J Bone Miner Res 12:995.
  • 28
    Piesowicz AT 1965 Pseudo-pseudo-hypoparathyroidism with osteoma cutis. Proc R Soc Med 58:126128.
  • 29
    Prendiville JS, Lucky AW, Mallory SB, Mughal Z, Mimouni F, Langman CB 1992 Osteoma cutis as a presenting sign of pseudohypoparathyroidism. Pediatr Dermatol 9:1118.
  • 30
    Kaplan FS 1996 Skin and bones. Arch Dermatol 132:815818.
  • 31
    Puzas JE, Miller MD, Rosier RN 1989 Pathologic bone formation. Clin Orthop 245:269281.
  • 32
    Roth SI, Stowell RE, Helwig EB 1963 Cutaneous ossification. Arch Pathol 76:4454.
  • 33
    Burgdorf W, Nasemann T 1977 Cutaneous osteomas: A clinical and histopathologic review. Archiv fur Dermatologische Forschung (Archives for Dermatological Research) 260:121135.
  • 34
    Cottoni F, Dell'Orbo C, Quacci D, Tedde G 1993 Primary osteoma cutis. Clinical, morphological, and ultrastructural study. Am J Dermatopathol 15:7781.
  • 35
    Fawcett HA, Marsden RA 1983 Hereditary osteoma cutis. J R Soc Med 76:697699.
  • 36
    Peterson WCJ, Mandel SL 1963 Primary osteomas of skin. Arch Dermatol 87:626632.
  • 37
    Sanmartin O, Alegre V, Martinez-Aparicio A, Botella-Estrada R, Aliaga A 1993 Congenital platelike osteoma cutis: Case report and review of the literature. Pediatr Dermatol 10:182186.
  • 38
    Vero F, Machacek GF, Bartlett FH 1945 Disseminated congenital osteoma of the skin with subsequent development of myositis ossificans: Report of a case in an infant. JAMA 129:728734.
  • 39
    Edmonds HW, Coe HE, Tabrah FL 1948 Bone formation in skin and muscle: A localized tissue malformation or heterotopia. J Pediatr 33:618623.
  • 40
    Foster CM, Levin S, Levine M, Mukherjee A, Costa JL, Eanes ED, Triche T, Zasloff M 1986 Limited dermal ossification: Clinical features and natural history. J Pediatr 109:7176.
  • 41
    Gardner RJ, Yun K, Craw SM 1988 Familial ectopic ossification. J Med Genet 25:113117.
  • 42
    Lim MO, Mukherjee AB, Hansen JW 1981 Dysplastic cutaneous osteomatosis. A unique case of true osteoma. Arch Dermatol 117:797799.
  • 43
    Urtizberea JA, Testart H, Cartault F, Boccon-Gibod L, Le Merrer M, Kaplan FS 1998 Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br 80:768771.
  • 44
    Schmidt AH, Vincent KA, Aiona MD 1994 Hemimelic progressive osseous heteroplasia. A case report. J Bone Joint Surg Am 76:907912.
  • 45
    Athanasou NA, Benson MK, Brenton BP, Smith R 1994 Progressive osseous heteroplasia: A case report. Bone 15:471475.
  • 46
    Miller ES, Esterly NB, Fairley JA 1996 Progressive osseous heteroplasia. Arch Dermatol 132:787791.
  • 47
    Rodriguez-Jurado R, Gonzalez-Crussi F, Poznanski AK 1995 Progressive osseous heteroplasia, uncommon cause of soft tissue ossification: A case report and review of the literature. Pediatr Pathol Lab Med 15:813827.
  • 48
    Jang K-A, Choi J-H, Sung K-J, Koh J-K, Moon K-C 1999 Progressive osseous heteroplasia: A case report. Pediatr Dermatol 16:7475.
  • 49
    Beresford JN, Bennett JH, Devlin C, Leboy PS, Owen ME 1992 Evidence for an inverse relationship between the differentiation of adipocytic and osteogenic cells in rat marrow stromal cell cultures. J Cell Sci 102:341351.
  • 50
    Gordeladze JO, Hovik KE, Merendino JJ, Hermouet S, Gutkind S, Accili D 1997 Effect of activating and inactivating mutations of Gs- and Gi2-alpha protein subunits on growth and differentiation of 3T3-L1 preadipocytes. J Cell Biochem 64:242257.
  • 51
    Thompson DL, Lum KD, Nygaard SC, Kuestner RE, Kelly KA, Gimble JM, Moore EE 1998 The derivation and characterization of stromal cell lines from the bone marrow of p53−/− mice: New insights into osteoblast and adipocyte differentiation. J Bone Miner Res 13:195204.
  • 52
    Nuttall ME, Patton AJ, Olivera DL, Nadeau DP, Gowen M 1998 Human trabecular bone cells are able to express both osteoblastic and adipocytic phenotype: Implications for osteopenic disorders. J Bone Miner Res 13:371382.
  • 53
    Pittenger MF, Mackay AM, Beck SC, Jaiswal RK, Douglas R, Mosca JD, Moorman MA, Simonetti DW, Craig S, Marshak DR 1999 Multilineage potential of adult human mesenchymal stem cells. Science 284:143147.
  • 54
    Gori F, Thomas T, Hicok KC, Spelsberg TC, Riggs BL 1999 Differentiation of human marrow stromal precursor cells: Bone morphogenetic protein-2 increases OSF2/CBFA1, enhances osteoblast commitment, and inhibits late adipocyte maturation. J Bone Miner Res 14:15221535.
  • 55
    Poliard A, Nifuji A, Lamblin D, Plee E, Forest C, Kellermann O 1995 Controlled conversion of an immortalized mesodermal progenitor cell towards osteogenic, chondrogenic, or adipogenic pathways. J Cell Biol 130:14611472.
  • 56
    Smith MM, Hall BK 1990 Development and evolutionary origins of vertebrate skeletogenic and odontogenic tissues. Biol Rev Camb Philos Soc 65:277373.
  • 57
    Kaplan FS, Wagman RB, Wheeler SR, Gardner F 1997 What Is Progressive Osseous Heteroplasia? A Guidebook for Families. Progressive Osseous Heteroplasia Association, Indian Head Park, IL, U.S.A.
  • 58
    Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidism: An example of Seabright-Bantam syndrome: A report of three cases. Endocrinology 30:922932.
  • 59
    Carter A, Bardin C, Collins R, Simons C, Bray P, Spiegel A 1987 Reduced expression of multiple forms of the alpha subunit of the stimulatory GTP-binding protein in pseudohypoparathyroidism type Ia. Proc Natl Acad Sci USA 84:72667269.
  • 60
    Clapham DE 1993 Mutations in G protein-linked receptors: Novel insights on disease. Cell 75:12371239.
  • 61
    Farfel Z, Brickman AS, Kaslow HR, Brothers VM, Bourne HR 1980 Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism. N Engl J Med 303:237242.
  • 62
    Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL 1980 Skeletal responsiveness in pseudohypoparathyroidism. A spectrum of clinical disease. Am J Med 68:772781.
  • 63
    Lefkowitz RJ 1995 G proteins in medicine: Clinical implications of basic research. N Engl J Med 332:186187.
  • 64
    Levine MA, Ahn TG, Klupt SF, Kaufman KD, Smallwood PM, Bourne HR, Sullivan KA, Van Dop C 1988 Genetic deficiency of the alpha subunit of the guanine nucleotide-binding protein Gs as the molecular basis for Albright hereditary osteodystrophy. Proc Natl Acad Sci USA 85:617621.
  • 65
    Levine MA, Jap TS, Mauseth RS, Downs RW, Spiegel AM 1986 Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: Biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds. J Clin Endocrinol Metab 62:497502.
  • 66
    Patten JL, Levine MA 1990 Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy. J Clin Endocrinol Metab 71:12081214.
  • 67
    Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G, Smallwood PM, Levine MA 1990 Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 322:14121419.
  • 68
    Spiegel AM, Weinstein LS, Shenker A 1993 Abnormalities in G protein-coupled signal transduction pathways in human disease. J Clin Invest 92:11191125.
  • 69
    Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins RM, Gershon ES, Spiegel AM 1990 Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA 87:82878290.
  • 70
    Weinstein LS, Gejman PV, de Mazancourt P, American N, Spiegel AM 1992 A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy. Genomics 13:13191321.
  • 71
    Spiegel AM 1990 Albright's hereditary osteodystrophy and defective G proteins. N Engl J Med 322:14611462.
  • 72
    Ringel MD, Schwindinger WF, Levine MA 1996 Clinical implications of genetic defects in G proteins. The molecular basis of McCune-Albright syndrome and Albright hereditary osteodystrophy. Medicine 75:171184.
  • 73
    Albright F, Forbes AP, Henneman PH 1952 Pseudopseudohypoparathyroidism. Trans Assoc Am Physicians 65:337350.
  • 74
    Davies SJ, Hughes HE 1993 Imprinting in Albright's hereditary osteodystrophy. J Med Genet 30:101103.
  • 75
    Wilson LC, Oude Luttikhuis MEM, Clayton PT, Fraser WD, Trembath RC 1994 Parental origin of Gsα gene mutations in Albright's hereditary osteodystrophy. J Med Genet 31:835839.
  • 76
    Hayward BE, Kamiya M, Strain L, Moran V, Campbell R, Hayashizaki Y, Bonthron DT 1998 The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc Natl Acad Sci USA 95:1003810043.
  • 77
    Hayward BE, Moran V, Strain L, Bonthron DT 1998 Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:1547515480.
  • 78
    Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C 1998 Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsalpha gene mutation. Am J Med Genet 77:261267.
  • 79
    Schwindinger WF, Reese KJ, Lawler AM, Gearhart JD, Levine MA 1997 Targeted disruption of GNAS in embryonic stem cells. Endocrinology 138:40584063.
  • 80
    Yu S, Yu D, Lee E, Eckhaus M, Lee R, Corria Z, Accili D, Westphal H, Weinstein LS 1998 Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene. Proc Natl Acad Sci USA 95:871520.
  • 81
    Farfel Z, Bourne HR, Iiri T 1999 The expanding spectrum of G protein diseases. N Engl J Med 340:10121020.
  • 82
    Peters J, Wroe SF, Wells CA, Miller HJ, Bodle D, Beechey CV, Williamson CM, Kelsey G 1999 A cluster of oppositely imprinted transcripts at the Gnas locus in the distal imprinting region of mouse chromosome 2. Proc Natl Acad Sci USA 96:38303835.
  • 83
    Juppner H, Abou-Samra AB, Freeman M, Kong XF, Schipani E, Richards J, Kolakowski LF Jr, Hock J, Potts JT Jr, Kronenberg HM, et al. 1991 A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide. Science 254:10241026.
  • 84
    Abou-Samra AB, Juppner H, Force T, Freeman MW, Kong XF, Schipani E, Urena P, Richards J, Bonventre JV, Potts JT Jr, Kronenberg HM, Segre GV 1992 Expression cloning of a common receptor for parathyroid hormone and parathyroid hormone-related peptide from rat osteoblast-like cells: A single receptor stimulates intracellular accumulation of both cAMP and inositol trisphosphates and increases intracellular free calcium. Proc Natl Acad Sci USA 89:27322736.
  • 85
    Martin TJ 1996 Actions of parathyroid hormone-related peptide and its receptors. N Engl J Med 335:736738.
  • 86
    Takasu H, Guo J, Bringhurst FR 1999 Dual signaling and ligand selectivity of the human PTH/PTHrP receptor. J Bone Miner Res 14:1120.
  • 87
    Ish-Shalom S, Rao LG, Levine MA, Fraser D, Kooh SW, Josse RG, McBroom R, Wong MM, Murray TM 1996 Normal parathyroid hormone responsiveness of bone-derived cells from a patient with pseudohypoparathyroidism. J Bone Miner Res 11:814.
  • 88
    Karaplis AC, Luz A, Glowacki J, Bronson RT, Tybulewicz VL, Kronenberg HM, Mulligan RC 1994 Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 8:277289.
  • 89
    Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ 1996 Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 273:613622.
  • 90
    Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LHK, Ho C, Mulligan RC, Abou-Samra AB, Juppner H, Segre GV, Kronenberg HM 1996 PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663666.
  • 91
    Lee K, Deeds JD, Segre GV 1995 Expression of parathyroid hormone-related peptide and its receptor messenger ribonucleic acids during fetal development of rats. Endocrinology 136:453463.
  • 92
    Chung UI, Lanske B, Lee K, Li E, Kronenberg H 1998 The parathyroid hormone/parathyroid hormone-related peptide receptor coordinates endochondral bone development by directly controlling chondrocyte differentiation. Proc Natl Acad Sci USA 95:1303013035.
  • 93
    Divieti P, Lanske B, Kronenberg HM, Bringhurst 1998 Conditionally immortalized murine osteoblasts lacking the type I PTH/PTHrP receptor. J Bone Miner Res 13:18351845.
  • 94
    Tetradis S, Nervina JM, Nemoto K, Kream BE 1998 Parathyroid hormone induces expression of the inducible cAMP early repressor in osteoblastic MC3T3-E1 cells and mouse calvariae. J Bone Miner Res 13:18461851.
  • 95
    Eddy MC, Jan de Beur SM, Yandow SM, McAlister WH, Kaplan FS, Shore EM, Whyte MP, Levine MA 2000 Deficiency of the α-subunit of the stimulatory G protein and severe extraskeletal ossification. J Bone Miner Res 15:20742083.
  • 96
    Yeh G, Mathur S, Wivel A, Li M, Ulied A, Gannon FH, Audi L, Olmsted EA, Kaplan FS, Shore EM 2000 GNAS1 mutation and Cbfa1 misexpression in a child with severe congenital platelike osteoma cutis. J Bone Miner Res 15:20632073.
  • 97
    Yu S, Yu D, Hainline BE, Brener JL, Wilson KA, Wilson LC, Oude-Luttikhuis ME, Trembath RC, Weinstein LS 1995 A deletion hot-spot in exon 7 of the Gs alpha gene (GNAS1) in patients with Albright hereditary osteodystrophy. Hum Mol Genet 4:20012002.
  • 98
    Ahmed SF, Dixon PH, Bonthron DT, Stirling HF, Barr DGD, Kelnar CJH, Thakker RV 1998 GNAS1 mutational analysis in pseudohypoparathyroidism. Clin Endocrinol (Oxf) 49:525531.
  • 99
    Schwindinger WF, Lawler AM, Gearhart JD, Levine MA 1998 A murine model of Albright hereditary dystrophy. Endocrine Society 80th Annual Meeting (abstract), p. 480.
  • 100
    Rodan GA, Harada S 1997 The missing bone. Cell 89:677680.
  • 101
    Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G 1997 Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation. Cell 89:747754.
  • 102
    Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, Bronson RT, Gao Y-H, Inada M, Sato M, Okamoto R, Kitamura Y, Yoshiki S, Kishimoto T 1997 Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755764.
  • 103
    Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GWH, Beddington RSP, Mundlos S, Olsen BR, Selby PB, Owen MJ 1997 Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 89:765771.
  • 104
    Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR 1997 Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773779.
  • 105
    Geoffroy V, Corral DA, Zhou L, Lee B, Karsenty G 1998 Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function. Mamm Genome 9:5457.
  • 106
    Banerjee C, McCabe LR, Choi J-Y, Hiebert SW, Stein JL, Stein GS, Lian JB 1997 Runt homology domain proteins in osteoblast differentiation: AML3/CBFA1 is a major component of a bone-specific complex. J Cell Biochem 66:18.
  • 107
    Garrod A 1928 The lessons of rare maladies. Lancet 1:10551060.