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Volumn 140, Issue 23, 2006, Pages 2646-2706

The new bone biology: Pathologic, molecular, and clinical correlates

Author keywords

ACVR1; BMPs; Bone tumors; Cartilaginous tumors; Collagenopathies; Endochondral bone; FGFRs; IHH; Leptin; Membrane bone; MSXs; Osteoclastogenesis; Osteoimmunology; Osteopetrosis; Osteoporosis; PTH; PTHR1; RANK; RANKL; RUNX2; Skeletal dysplasias; TGF s; WNT signaling

Indexed keywords

ADENYLATE CYCLASE; BETA CATENIN; COLLAGEN; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GUANINE NUCLEOTIDE BINDING PROTEIN; HISTONE DEACETYLASE; HISTONE DEACETYLASE 4; LEPTIN; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; TRANSCRIPTION FACTOR OTX; TRANSFORMING GROWTH FACTOR BETA; WNT PROTEIN;

EID: 33644872519     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31368     Document Type: Conference Paper
Times cited : (263)

References (431)
  • 1
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGFR3
    • ADHR Consortium
    • ADHR Consortium. 2000. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGFR3. Nat Genet 26:345-348.
    • (2000) Nat Genet , vol.26 , pp. 345-348
  • 2
    • 20344398197 scopus 로고    scopus 로고
    • Reduced affinity to and inhibition by DKK1 from a common mechanism by which high bone mass-associated missense mutations in LRP5affect canonical Wnt signaling
    • Ai M, Holmen SL, Van Hul W, Williams BO, Warman ML. 2005a. Reduced affinity to and inhibition by DKK1 from a common mechanism by which high bone mass-associated missense mutations in LRP5affect canonical Wnt signaling. Mol Cell Biol 23:4946-4955.
    • (2005) Mol Cell Biol , vol.23 , pp. 4946-4955
    • Ai, M.1    Holmen, S.L.2    Van Hul, W.3    Williams, B.O.4    Warman, M.L.5
  • 3
    • 27244452640 scopus 로고    scopus 로고
    • Clinical and molecular findings in osteoporosis-pseudoglioma syndrome
    • The Osteoporosis-Pseudoglioma Collaborative Group
    • Ai M, Heeger S, Bartels CF, Schelling DK, The Osteoporosis-Pseudoglioma Collaborative Group. 2005b. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet 77:741-753.
    • (2005) Am J Hum Genet , vol.77 , pp. 741-753
    • Ai, M.1    Heeger, S.2    Bartels, C.F.3    Schelling, D.K.4
  • 4
    • 0000758497 scopus 로고
    • Röntgenbilder einer seltenen Knochenerkrankung
    • Albers-Schönberg H. 1904. Röntgenbilder einer seltenen Knochenerkrankung. Muenchener Med Wschr 51:365.
    • (1904) Muenchener Med Wschr , vol.51 , pp. 365
    • Albers-Schönberg, H.1
  • 5
    • 0037129387 scopus 로고    scopus 로고
    • Interfering with bone remodeling
    • Alliston T, Derynck R. 2002. Interfering with bone remodeling. Nature 416:686-687.
    • (2002) Nature , vol.416 , pp. 686-687
    • Alliston, T.1    Derynck, R.2
  • 6
    • 0030111093 scopus 로고    scopus 로고
    • Activating mutations of Gs protein in monostotic fibrous lesions of bone
    • Alman BA, Greel DA. 1996. Activating mutations of Gs protein in monostotic fibrous lesions of bone. J Orthop Res 14:311-315.
    • (1996) J Orthop Res , vol.14 , pp. 311-315
    • Alman, B.A.1    Greel, D.A.2
  • 8
    • 0037439630 scopus 로고    scopus 로고
    • Making sense of latent TGFβ activation
    • Annes JP, Munger JS, Rifkin DB. 2003. Making sense of latent TGFβ activation. J Cell Sci 116:217-224.
    • (2003) J Cell Sci , vol.116 , pp. 217-224
    • Annes, J.P.1    Munger, J.S.2    Rifkin, D.B.3
  • 9
    • 0034735792 scopus 로고    scopus 로고
    • Bone versus immune system
    • Arron JR, Choi Y. 2000. Bone versus immune system. Nature 408:535-536.
    • (2000) Nature , vol.408 , pp. 535-536
    • Arron, J.R.1    Choi, Y.2
  • 12
    • 0030794270 scopus 로고    scopus 로고
    • Runt homology domain proteins in osteoblast differentiation: AML-3/Cbfa1 is a major component of a bone specific complex
    • Banerjee C, McCabe LR, Choi J-Y, Hiebert SW, Stein JL, Stein GS, Lian JB. 1997. Runt homology domain proteins in osteoblast differentiation: AML-3/Cbfa1 is a major component of a bone specific complex. J Cell Biochem 66:1-8.
    • (1997) J Cell Biochem , vol.66 , pp. 1-8
    • Banerjee, C.1    McCabe, L.R.2    Choi, J.-Y.3    Hiebert, S.W.4    Stein, J.L.5    Stein, G.S.6    Lian, J.B.7
  • 14
    • 19144373472 scopus 로고    scopus 로고
    • Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
    • Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Kinkel GK, Powell CM, Shaffer LG, Willems PJ. 1996. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet 58:734-742.
    • (1996) Am J Hum Genet , vol.58 , pp. 734-742
    • Bartsch, O.1    Wuyts, W.2    Van Hul, W.3    Hecht, J.T.4    Meinecke, P.5    Hogue, D.6    Werner, W.7    Zabel, B.8    Kinkel, G.K.9    Powell, C.M.10    Shaffer, L.G.11    Willems, P.J.12
  • 16
    • 11244353640 scopus 로고    scopus 로고
    • Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib
    • Bastepe M, Fröhlich LF, Linglart A, Abu-Zahra HS, Tojo K, Ward LM, Jüppner H. 2004. Deletion of the NESP55 differentially methylated region causes loss of maternal GNAS imprints and pseudohypoparathyroidism type Ib. Nat Genet 37:25-27.
    • (2004) Nat Genet , vol.37 , pp. 25-27
    • Bastepe, M.1    Fröhlich, L.F.2    Linglart, A.3    Abu-Zahra, H.S.4    Tojo, K.5    Ward, L.M.6    Jüppner, H.7
  • 17
    • 17844373625 scopus 로고    scopus 로고
    • Roles for leptin receptor/STAT3-dependent and -independent signals in the regulation of glucose homeostasis
    • Bates SH, Kulkarni RN, Seifert M, Myers MG Jr. 2005. Roles for leptin receptor/STAT3-dependent and -independent signals in the regulation of glucose homeostasis. Cell Metab 1:169-178.
    • (2005) Cell Metab , vol.1 , pp. 169-178
    • Bates, S.H.1    Kulkarni, R.N.2    Seifert, M.3    Myers Jr., M.G.4
  • 20
    • 0032474837 scopus 로고    scopus 로고
    • Tout-velu is Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion
    • Bellaiche Y, The I, Perrimon N. 1998. Tout-velu is Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion. Nature 394:85-88.
    • (1998) Nature , vol.394 , pp. 85-88
    • Bellaiche, Y.1    The, I.2    Perrimon, N.3
  • 23
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, Muenke M. 1996. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 14:174-176.
    • (1996) Nat Genet , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 24
    • 0033516620 scopus 로고    scopus 로고
    • Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3
    • Bellus GA, Bamshed MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJR, Wilcox WR, Lachman RS. 1999. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): Phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Am J Med Genet 85:53-65.
    • (1999) Am J Med Genet , vol.85 , pp. 53-65
    • Bellus, G.A.1    Bamshed, M.J.2    Przylepa, K.A.3    Dorst, J.4    Lee, R.R.5    Hurko, O.6    Jabs, E.W.7    Curry, C.J.R.8    Wilcox, W.R.9    Lachman, R.S.10
  • 26
    • 0032970420 scopus 로고    scopus 로고
    • Cloning of 2.5 kb murine bone sialoprotein promotor fragment and functional analysis of putative Osf2 binding sites
    • Benson MD, Aubin JE, Xiao ZS, Thomas PE, Francesche RT. 1999. Cloning of 2.5 kb murine bone sialoprotein promotor fragment and functional analysis of putative Osf2 binding sites. J Bone Miner Res 14:396-405.
    • (1999) J Bone Miner Res , vol.14 , pp. 396-405
    • Benson, M.D.1    Aubin, J.E.2    Xiao, Z.S.3    Thomas, P.E.4    Francesche, R.T.5
  • 31
    • 0032192369 scopus 로고    scopus 로고
    • How the osteoclast degrades bone
    • Blair HC. 1998. How the osteoclast degrades bone. BioEssays 20:837-846.
    • (1998) BioEssays , vol.20 , pp. 837-846
    • Blair, H.C.1
  • 32
    • 0024461376 scopus 로고
    • Osteoclastic bone resorption by a polarized vacuolar proton pump
    • Blair HC, Teitelbaum SL, Ghisell 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    Ghisell, R.3    Gluck, S.4
  • 33
    • 0022000808 scopus 로고
    • A case of lethal congenital dwarfism with accelerated skeletal maturation
    • Blomstrand S, Claesson I, Save-Soderbergh J. 1985. A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediat Radiol 15:141-143.
    • (1985) Pediat Radiol , vol.15 , pp. 141-143
    • Blomstrand, S.1    Claesson, I.2    Save-Soderbergh, J.3
  • 35
    • 0029912958 scopus 로고    scopus 로고
    • Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism
    • Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. 1996. Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia and thanatophoric dwarfism. Am J Med Genet 63:148-154.
    • (1996) Am J Med Genet , vol.63 , pp. 148-154
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet, L.3    Le Merrer, M.4    Munnich, A.5    Maroteaux, P.6
  • 36
    • 0001028935 scopus 로고    scopus 로고
    • Transforming growth factor-β
    • Bilezikian J, Raisz L, Rodan G, editors. New York: Academic Press
    • Bonewald LF. 1996. Transforming growth factor-β. In: Bilezikian J, Raisz L, Rodan G, editors. Principles of Bone Biology. New York: Academic Press, p. 647-659.
    • (1996) Principles of Bone Biology , pp. 647-659
    • Bonewald, L.F.1
  • 39
    • 0037673945 scopus 로고    scopus 로고
    • Osteoclast differentiation and activation
    • Boyle WJ, Simonett WS, Lacey DL. 2003. Osteoclast differentiation and activation. Nature 423:337-342.
    • (2003) Nature , vol.423 , pp. 337-342
    • Boyle, W.J.1    Simonett, W.S.2    Lacey, D.L.3
  • 42
    • 0032005845 scopus 로고    scopus 로고
    • Fibroblast growth factor receptors: Lessons from the genes
    • Burke D, Wilkes D, Blundell TL, Malcolm S. 1998. Fibroblast growth factor receptors: Lessons from the genes. Trends Biochem 23:59-62.
    • (1998) Trends Biochem , vol.23 , pp. 59-62
    • Burke, D.1    Wilkes, D.2    Blundell, T.L.3    Malcolm, S.4
  • 44
    • 0034894052 scopus 로고    scopus 로고
    • Mapping of autosomal dominant osteopetrosis type II (Albers- Schönberg disease) to chromosome 16p13.3
    • Bénichou O, Cleiren E, Gram J, Bollerslev J, de Vernejoul M-C, Van Hul W. 2001. Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3. Am J Hum Genet 69:647-654.
    • (2001) Am J Hum Genet , vol.69 , pp. 647-654
    • Bénichou, O.1    Cleiren, E.2    Gram, J.3    Bollerslev, J.4    De Vernejoul, M.-C.5    Van Hul, W.6
  • 45
    • 0035892809 scopus 로고    scopus 로고
    • Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
    • Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M. 2001. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 104:277-281.
    • (2001) Am J Med Genet , vol.104 , pp. 277-281
    • Camera, G.1    Baldi, M.2    Strisciuglio, G.3    Concolino, D.4    Mastroiacovo, P.5    Baffico, M.6
  • 46
    • 0029006890 scopus 로고
    • Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia
    • Candeliere GA, Glorieux FH, Prud'homme J, St-Arnaud R. 1995. Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. N Engl J Med 332:1546-1551.
    • (1995) N Engl J Med , vol.332 , pp. 1546-1551
    • Candeliere, G.A.1    Glorieux, F.H.2    Prud'homme, J.3    St-Arnaud, R.4
  • 47
    • 0030779964 scopus 로고    scopus 로고
    • Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone
    • Candeliere GA, Roughley PJ, Glorieux FH. 1997. Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 21:201-206.
    • (1997) Bone , vol.21 , pp. 201-206
    • Candeliere, G.A.1    Roughley, P.J.2    Glorieux, F.H.3
  • 48
    • 0037464509 scopus 로고    scopus 로고
    • Oncogenic osteomalacia - A complex dance of factors
    • Carpenter TO. 2003. Oncogenic osteomalacia - a complex dance of factors. N Engl J Med 348:1705-1708.
    • (2003) N Engl J Med , vol.348 , pp. 1705-1708
    • Carpenter, T.O.1
  • 49
    • 0029924238 scopus 로고    scopus 로고
    • Comparison of MSX-1 and MSX-2 suggests a molecular basis for functional redundancy
    • Catron KM, Wang H, Hu G, Shen MM, Abate-Shen C. 1996. Comparison of MSX-1 and MSX-2 suggests a molecular basis for functional redundancy. Mech Dev 55:185-199.
    • (1996) Mech Dev , vol.55 , pp. 185-199
    • Catron, K.M.1    Wang, H.2    Hu, G.3    Shen, M.M.4    Abate-Shen, C.5
  • 51
    • 0037424442 scopus 로고    scopus 로고
    • Cocaine- and amphetamine-regulated transcript peptide produces anxiety-like behavior in rodents
    • Chaki S, Kawashima N, Suzuki Y, Shimazaki T Okuyama S. 2003. Cocaine- and amphetamine-regulated transcript peptide produces anxiety-like behavior in rodents. Eur J Pharmacol 464:49-54.
    • (2003) Eur J Pharmacol , vol.464 , pp. 49-54
    • Chaki, S.1    Kawashima, N.2    Suzuki, Y.3    Shimazaki, T.4    Okuyama, S.5
  • 54
    • 1842293997 scopus 로고    scopus 로고
    • Short limb skeletal dysplasias and craniosynostoses: What do they have in common?
    • Cohen MM Jr. 1997a. Short limb skeletal dysplasias and craniosynostoses: What do they have in common? Pediatr Radiol 27:442-446.
    • (1997) Pediatr Radiol , vol.27 , pp. 442-446
    • Cohen Jr., M.M.1
  • 55
    • 0031093572 scopus 로고    scopus 로고
    • Transforming growth factor βs and fibroblast growth factors and their receptors. Role in sutural biology and craniosynostosis
    • Cohen MM Jr. 1997b. Transforming growth factor βs and fibroblast growth factors and their receptors. Role in sutural biology and craniosynostosis. J Bone Miner Res 12:322-331.
    • (1997) J Bone Miner Res , vol.12 , pp. 322-331
    • Cohen Jr., M.M.1
  • 56
    • 0032253399 scopus 로고    scopus 로고
    • Achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Clinically related skeletal dysplasias that are also related at the molecular level
    • Cohen MM Jr. 1998. Achondroplasia, hypochondroplasia, and thanatophoric dysplasia: Clinically related skeletal dysplasias that are also related at the molecular level. Int J Oral Maxfac Surg 27:451-455.
    • (1998) Int J Oral Maxfac Surg , vol.27 , pp. 451-455
    • Cohen Jr., M.M.1
  • 57
    • 0033774832 scopus 로고    scopus 로고
    • Merging the old skeletal biology with the new. I. Intramembranous ossification, endochondral ossification, ectopic bone, secondary cartilage, and pathologic considerations
    • Cohen MM Jr. 2000a. Merging the old skeletal biology with the new. I. Intramembranous ossification, endochondral ossification, ectopic bone, secondary cartilage, and pathologic considerations. Craniofac Genet Dev Biol 20:84-93.
    • (2000) Craniofac Genet Dev Biol , vol.20 , pp. 84-93
    • Cohen Jr., M.M.1
  • 58
    • 0033779204 scopus 로고    scopus 로고
    • Merging the old skeletal biology with the new. II. Molecular aspects of bone formation and bone growth
    • Cohen MM Jr. 2000b. Merging the old skeletal biology with the new. II. Molecular aspects of bone formation and bone growth. J Craniofac Genet Dev Biol 20:94-106.
    • (2000) J Craniofac Genet Dev Biol , vol.20 , pp. 94-106
    • Cohen Jr., M.M.1
  • 59
    • 0034067020 scopus 로고    scopus 로고
    • Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2
    • Cohen MM Jr. 2000c. Craniofacial disorders caused by mutations in homeobox genes MSX1 and MSX2. J Craniofac Genet Dev Biol 20:19-25.
    • (2000) J Craniofac Genet Dev Biol , vol.20 , pp. 19-25
    • Cohen Jr., M.M.1
  • 60
    • 0035576269 scopus 로고    scopus 로고
    • RUNX genes, neoplasia, and cleidocranial dysplasia
    • Cohen MM Jr. 2001a. RUNX genes, neoplasia, and cleidocranial dysplasia. Am J Med Genet 104:185-188.
    • (2001) Am J Med Genet , vol.104 , pp. 185-188
    • Cohen Jr., M.M.1
  • 61
    • 0035254203 scopus 로고    scopus 로고
    • Fibrous dysplasia is a neoplasm
    • Cohen MM Jr. 2001b. Fibrous dysplasia is a neoplasm. Am J Med Genet 98:290-293.
    • (2001) Am J Med Genet , vol.98 , pp. 290-293
    • Cohen Jr., M.M.1
  • 62
    • 0037108028 scopus 로고    scopus 로고
    • Some chondrodysplasias with short limbs: Molecular perspectives
    • Cohen MM Jr. 2002a. Some chondrodysplasias with short limbs: Molecular perspectives. Am J Med Genet 112:304-313.
    • (2002) Am J Med Genet , vol.112 , pp. 304-313
    • Cohen Jr., M.M.1
  • 63
    • 0037156321 scopus 로고    scopus 로고
    • Bone morphogenetic proteins with some comments on fibrodysplasia ossificans progressiva and NOGGIN
    • Cohen MM Jr. 2002b. Bone morphogenetic proteins with some comments on fibrodysplasia ossificans progressiva and NOGGIN. Am J Med Genet 109:87-92.
    • (2002) Am J Med Genet , vol.109 , pp. 87-92
    • Cohen Jr., M.M.1
  • 64
    • 0037216494 scopus 로고    scopus 로고
    • TGFβ/Smad signaling system and its pathologic correlates
    • Cohen MM Jr. 2003a. TGFβ/Smad signaling system and its pathologic correlates. Am J Med Genet Part A 116A:1-10.
    • (2003) Am J Med Genet Part A , vol.116 A , pp. 1-10
    • Cohen Jr., M.M.1
  • 65
    • 0141890121 scopus 로고    scopus 로고
    • Molecular dimensions of gastrointestinal tumors: Some thoughts for digestion
    • Cohen MM Jr. 2003b. Molecular dimensions of gastrointestinal tumors: Some thoughts for digestion. Am J Med Genet Part A 122A:303-314.
    • (2003) Am J Med Genet Part A , vol.122 A , pp. 303-314
    • Cohen Jr., M.M.1
  • 66
    • 0142153787 scopus 로고    scopus 로고
    • The hedgehog signaling network
    • Cohen MM Jr. 2003c. The hedgehog signaling network. Am J Med Genet Part A 123A:5-28.
    • (2003) Am J Med Genet Part A , vol.123 A , pp. 5-28
    • Cohen Jr., M.M.1
  • 67
    • 14044258885 scopus 로고    scopus 로고
    • FGFs/FGFRs and associated disorders
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. New York: Oxford University Press, Chapter 33
    • Cohen MM Jr. 2004. FGFs/FGFRs and associated disorders. From: Inborn Errors of Development. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. New York: Oxford University Press, Chapter 33, pp. 380-400.
    • (2004) From: Inborn Errors of Development , pp. 380-400
    • Cohen Jr., M.M.1
  • 68
    • 33644863943 scopus 로고    scopus 로고
    • Role of leptin in regulating appetite, neuroendocrine function, and bone remodeling
    • Cohen MM Jr. 2006. Role of leptin in regulating appetite, neuroendocrine function, and bone remodeling. Am J Med Genet 140A:515-524.
    • (2006) Am J Med Genet , vol.140 A , pp. 515-524
    • Cohen Jr., M.M.1
  • 69
    • 0033212348 scopus 로고    scopus 로고
    • Etiology of fibrous dysplasia and McCune-Albright syndrome
    • Cohen MM Jr, Howell RE. 1999. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg 28:366-371.
    • (1999) Int J Oral Maxillofac Surg , vol.28 , pp. 366-371
    • Cohen Jr., M.M.1    Howell, R.E.2
  • 74
    • 0001587178 scopus 로고
    • Mutations Affecting Bone-Forming Cells
    • Hall BK, editor. Caldwell, NJ: Telford Press
    • Cole DEC, Cohen MM Jr. 1990. Mutations Affecting Bone-Forming Cells. In: Hall BK, editor. Bone: The osteoblast and osteocyte. Vol. 1. Caldwell, NJ: Telford Press, p. 431-487.
    • (1990) Bone: The Osteoblast and Osteocyte , vol.1 , pp. 431-487
    • Cole, D.E.C.1    Cohen Jr., M.M.2
  • 75
    • 0033045841 scopus 로고    scopus 로고
    • McCune-Albright syndrome: New insights
    • Collins MT, Shenker A. 1999. McCune-Albright syndrome: New insights. Endocrinol Diabetes 6:119-125.
    • (1999) Endocrinol Diabetes , vol.6 , pp. 119-125
    • Collins, M.T.1    Shenker, A.2
  • 76
    • 0020082586 scopus 로고
    • Genetic aspects of fibrodysplasia ossificans progressiva
    • Connor JM, Evans DAP. 1982. Genetic aspects of fibrodysplasia ossificans progressiva. J Med Genet 19:35-39.
    • (1982) J Med Genet , vol.19 , pp. 35-39
    • Connor, J.M.1    Evans, D.A.P.2
  • 77
    • 0027165006 scopus 로고
    • A three-generation family with fibrodysplasia ossificans progressiva
    • Connor JM, Skirton H, Lunt PW. 1993. A three-generation family with fibrodysplasia ossificans progressiva. J Med Genet 30:687-689.
    • (1993) J Med Genet , vol.30 , pp. 687-689
    • Connor, J.M.1    Skirton, H.2    Lunt, P.W.3
  • 80
    • 0028885716 scopus 로고
    • Dual role for the latent transforming growth factor beta binding protein (LTBP) in storage of latent TGFβ in the extracellular matrix and as a structural matrix protein
    • Dallas SL, Miyazono K, Skerry TM, Mundy GR, Bonewald LF. 1995. Dual role for the latent transforming growth factor beta binding protein (LTBP) in storage of latent TGFβ in the extracellular matrix and as a structural matrix protein. J Cell Biol 131:539-549.
    • (1995) J Cell Biol , vol.131 , pp. 539-549
    • Dallas, S.L.1    Miyazono, K.2    Skerry, T.M.3    Mundy, G.R.4    Bonewald, L.F.5
  • 81
    • 0029164842 scopus 로고
    • The function and evolution of Msx genes: Pointers and paradoxes
    • Davidson D. 1995. The function and evolution of Msx genes: Pointers and paradoxes. Trends Genet 11:405-411.
    • (1995) Trends Genet , vol.11 , pp. 405-411
    • Davidson, D.1
  • 86
    • 0031985543 scopus 로고    scopus 로고
    • Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia
    • Deutz-Terlouw PP, Losekoot M, Aalfs CM, Hennekam RC, Bakker E. 1998. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. Hum Mutat Suppl 1:562-565.
    • (1998) Hum Mutat Suppl , vol.1 , pp. 562-565
    • Deutz-Terlouw, P.P.1    Losekoot, M.2    Aalfs, C.M.3    Hennekam, R.C.4    Bakker, E.5
  • 88
    • 14044252167 scopus 로고    scopus 로고
    • DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
    • Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M. 2005. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet 133A:138-141.
    • (2005) Am J Med Genet , vol.133 A , pp. 138-141
    • Dong, J.1    Amor, D.2    Aldred, M.J.3    Gu, T.4    Escamilla, M.5    MacDougall, M.6
  • 89
    • 12344338238 scopus 로고    scopus 로고
    • Recessive mutations in PTHR1cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
    • Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. 2005. Recessive mutations in PTHR1cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 14:1-5.
    • (2005) Hum Mol Genet , vol.14 , pp. 1-5
    • Duchatelet, S.1    Ostergaard, E.2    Cortes, D.3    Lemainque, A.4    Julier, C.5
  • 92
    • 0014056642 scopus 로고
    • The oto-palato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia
    • Dudding BA, Gorlin RJ, Langer LO Jr. 1967. The oto-palato-digital syndrome: A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am J Dis Child 113:214-221.
    • (1967) Am J Dis Child , vol.113 , pp. 214-221
    • Dudding, B.A.1    Gorlin, R.J.2    Langer Jr., L.O.3
  • 93
    • 0029017797 scopus 로고
    • Relationships between cellular condensation, preosteoblast formation and epithelial-mesenchymal interactions in initiation of osteogenesis
    • T
    • Dunlop L-L T, Hall BK. 1995. Relationships between cellular condensation, preosteoblast formation and epithelial-mesenchymal interactions in initiation of osteogenesis. Int J Dev Biol 39:357-371.
    • (1995) Int J Dev Biol , vol.39 , pp. 357-371
    • Dunlop, L.-L.1    Hall, B.K.2
  • 94
    • 0031825521 scopus 로고    scopus 로고
    • Bone mineral density and bone turnover in asthmatics treated with long-term inhaled or oral glucocorticoids
    • Ebeling PR, Erbas B, Hopper JL, Wark JD, Rubinfeld AR. 1998. Bone mineral density and bone turnover in asthmatics treated with long-term inhaled or oral glucocorticoids. J Bone Miner Res 13:1283-1289.
    • (1998) J Bone Miner Res , vol.13 , pp. 1283-1289
    • Ebeling, P.R.1    Erbas, B.2    Hopper, J.L.3    Wark, J.D.4    Rubinfeld, A.R.5
  • 96
    • 15844405081 scopus 로고    scopus 로고
    • Do neural signals remodel bone?
    • Elmquist JK, Strewler GJ. 2005. Do neural signals remodel bone? Nature 434:447-448.
    • (2005) Nature , vol.434 , pp. 447-448
    • Elmquist, J.K.1    Strewler, G.J.2
  • 99
  • 100
    • 0030209618 scopus 로고    scopus 로고
    • GS protein mutations and pituitary tumors: Functional correlates and possible therapeutic implications
    • Faglia G, Arosio M, Spada A. 1996. GS protein mutations and pituitary tumors: Functional correlates and possible therapeutic implications. Metabolism 45:117-119.
    • (1996) Metabolism , vol.45 , pp. 117-119
    • Faglia, G.1    Arosio, M.2    Spada, A.3
  • 101
    • 0030664368 scopus 로고    scopus 로고
    • Chondrogenic cell differentiation from membrane bone priostea
    • Fang J, Hall BK. 1997. Chondrogenic cell differentiation from membrane bone priostea. Anat Embryol 196:349-362.
    • (1997) Anat Embryol , vol.196 , pp. 349-362
    • Fang, J.1    Hall, B.K.2
  • 103
    • 0038011833 scopus 로고    scopus 로고
    • Evolving concerpts of rheumatoid arthritis
    • Firestein GS. 2003. Evolving concerpts of rheumatoid arthritis. Nature 423:356-361.
    • (2003) Nature , vol.423 , pp. 356-361
    • Firestein, G.S.1
  • 106
    • 0014096372 scopus 로고
    • Stature and malignant tumors of bone in childhood and adolescence
    • Fraumeni JF Jr. 1967. Stature and malignant tumors of bone in childhood and adolescence. Cancer 20:967-973.
    • (1967) Cancer , vol.20 , pp. 967-973
    • Fraumeni Jr., J.F.1
  • 108
    • 0032545465 scopus 로고    scopus 로고
    • The involvement of multiple tumor necrosis factor receptor (TNFR)-associated factors in the signaling mechanisms of receptor activator of NF-kappaB, a member of the TNFR superfamily
    • 120-127
    • Galibert L, Tometsko ME, Anderson DM, Cosman D, Dougall WC. 1998. The involvement of multiple tumor necrosis factor receptor (TNFR)-associated factors in the signaling mechanisms of receptor activator of NF-kappaB, a member of the TNFR superfamily. J Biol Chem 273: 34, 120-127.
    • (1998) J Biol Chem , vol.273 , pp. 34
    • Galibert, L.1    Tometsko, M.E.2    Anderson, D.M.3    Cosman, D.4    Dougall, W.C.5
  • 111
    • 0036333736 scopus 로고    scopus 로고
    • High bone resorption in adult aging transgenic mice overexpressing cbfa1/runx2 in cells of the osteoblastic lineage
    • Geoffroy V, Kneissel M, Fournier B, Boyde A, Mathias P. 2002. High bone resorption in adult aging transgenic mice overexpressing cbfa1/runx2 in cells of the osteoblastic lineage. Mol Cell Biol 22:6222-6233.
    • (2002) Mol Cell Biol , vol.22 , pp. 6222-6233
    • Geoffroy, V.1    Kneissel, M.2    Fournier, B.3    Boyde, A.4    Mathias, P.5
  • 112
    • 0342748629 scopus 로고    scopus 로고
    • The genetics of osteoporosis: 'Complexities and difficulties.'
    • Giguère Y, Rousseau F. 2000. The genetics of osteoporosis: 'Complexities and difficulties.' Clin Genet 57:161-169.
    • (2000) Clin Genet , vol.57 , pp. 161-169
    • Giguère, Y.1    Rousseau, F.2
  • 113
    • 0027050480 scopus 로고
    • Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity
    • Givol D, Yayon A. 1992. Complexity of FGF receptors: Genetic basis for structural diversity and functional specificity. FASEB J 6:3362-3369.
    • (1992) FASEB J , vol.6 , pp. 3362-3369
    • Givol, D.1    Yayon, A.2
  • 116
    • 0042490798 scopus 로고    scopus 로고
    • Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line
    • Goriely A, McVean GAT, Röjmyr M, Ingemarsson B, Wilkie AOM. 2003. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301:643-646.
    • (2003) Science , vol.301 , pp. 643-646
    • Goriely, A.1    McVean, G.A.T.2    Röjmyr, M.3    Ingemarsson, B.4    Wilkie, A.O.M.5
  • 118
    • 0014572153 scopus 로고
    • Frontometaphyseal dysplasia: A new syndrome
    • Gorlin RJ, Cohen MM Jr. 1969. Frontometaphyseal dysplasia: A new syndrome. Am J Dis Child 118:487-494.
    • (1969) Am J Dis Child , vol.118 , pp. 487-494
    • Gorlin, R.J.1    Cohen Jr., M.M.2
  • 122
    • 0017932632 scopus 로고
    • Congenital absence of teeth: A review with emphasis on inheritance patterns
    • Graber LW. 1978. Congenital absence of teeth: A review with emphasis on inheritance patterns. J Am Dent Assoc 96:266-275.
    • (1978) J Am Dent Assoc , vol.96 , pp. 266-275
    • Graber, L.W.1
  • 123
    • 0032248556 scopus 로고    scopus 로고
    • A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
    • Grigelioniene G, Hagenas L, Eklof O, Neumeyer L, Haerid PE, Anvret M. 1998. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Hum Mutat 11:333.
    • (1998) Hum Mutat , vol.11 , pp. 333
    • Grigelioniene, G.1    Hagenas, L.2    Eklof, O.3    Neumeyer, L.4    Haerid, P.E.5    Anvret, M.6
  • 125
    • 0023787477 scopus 로고
    • Differentiation of muscle, fat, cartilage, and bone from progenitor cells present in a bone-derived clonal cell population: Effect of dexamethasone
    • Grigoriadis AE, Heersche JN, Aubin JE. 1988. Differentiation of muscle, fat, cartilage, and bone from progenitor cells present in a bone-derived clonal cell population: Effect of dexamethasone. J Cell Biol 106:2139-2151.
    • (1988) J Cell Biol , vol.106 , pp. 2139-2151
    • Grigoriadis, A.E.1    Heersche, J.N.2    Aubin, J.E.3
  • 126
    • 4644276225 scopus 로고    scopus 로고
    • Wnt/beta-catenin signaling is sufficient and necessary for synovia! joint formation
    • Guo X, Day TF, Jiang X, Garrett-Beal L, Topol L, Yang Y. 2004. Wnt/beta-catenin signaling is sufficient and necessary for synovia! joint formation. Genes Dev 18:2404-2417.
    • (2004) Genes Dev , vol.18 , pp. 2404-2417
    • Guo, X.1    Day, T.F.2    Jiang, X.3    Garrett-Beal, L.4    Topol, L.5    Yang, Y.6
  • 128
    • 84970626285 scopus 로고
    • The distribution and fate of adventitious cartilage in the skull of the eastern rosella, Platycercus eximus
    • Hall BK. 1967a. The distribution and fate of adventitious cartilage in the skull of the eastern rosella, Platycercus eximus. Aust J Zool 15:685-698.
    • (1967) Aust J Zool , vol.15 , pp. 685-698
    • Hall, B.K.1
  • 129
    • 0014203996 scopus 로고
    • The formation of adventitious cartilage by membrane bones under the influence of mechanical stimulation applied in vitro
    • Hall BK. 1967b. The formation of adventitious cartilage by membrane bones under the influence of mechanical stimulation applied in vitro. Life Sci 6:663-667.
    • (1967) Life Sci , vol.6 , pp. 663-667
    • Hall, B.K.1
  • 130
    • 0014878798 scopus 로고
    • Cellular differentiation in skeletal tissues
    • Hall BK. 1970. Cellular differentiation in skeletal tissues. Biol Rev 45:455.
    • (1970) Biol Rev , vol.45 , pp. 455
    • Hall, B.K.1
  • 131
    • 0000041744 scopus 로고    scopus 로고
    • Bone, embryonic development
    • Second Edition. New York: Academic Press
    • Hall BK. 1997. Bone, embryonic development. In Encyclopedia of Human Biology. Vol. 2, Second Edition. New York: Academic Press, pp. 105-114.
    • (1997) Encyclopedia of Human Biology , vol.2 , pp. 105-114
    • Hall, B.K.1
  • 133
    • 0026757845 scopus 로고
    • The membranous skeleton: The role of cell condensations in vertebrate skeletogenesis
    • Hall BK, Miyake T. 1992. The membranous skeleton: The role of cell condensations in vertebrate skeletogenesis. Anat Embryol 186:107-124.
    • (1992) Anat Embryol , vol.186 , pp. 107-124
    • Hall, B.K.1    Miyake, T.2
  • 134
    • 0029551439 scopus 로고
    • Divide, accumulate, differentiate: Cell condensation in skeletal development revisited
    • Hall BK, Miyake T. 1995. Divide, accumulate, differentiate: Cell condensation in skeletal development revisited. Int J Dev Biol 39:881-893.
    • (1995) Int J Dev Biol , vol.39 , pp. 881-893
    • Hall, B.K.1    Miyake, T.2
  • 135
    • 0033973655 scopus 로고    scopus 로고
    • All for one and one for all: Condensations and the initiation of skeletal development
    • Hall BK, Miyake T. 2000. All for one and one for all: Condensations and the initiation of skeletal development. BioEssays 22:138-147.
    • (2000) BioEssays , vol.22 , pp. 138-147
    • Hall, B.K.1    Miyake, T.2
  • 136
    • 0018841899 scopus 로고
    • Campomelic dysplasia: Further elucidation of a distinct entity
    • Hall BD, Spranger JW. 1980. Campomelic dysplasia: Further elucidation of a distinct entity. Am J Dis Child 134:285-289.
    • (1980) Am J Dis Child , vol.134 , pp. 285-289
    • Hall, B.D.1    Spranger, J.W.2
  • 137
    • 0037105009 scopus 로고    scopus 로고
    • Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis
    • Hall CR, Cole WG, Haynes R, Hecht JT. 2002. Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. Am J Med Genet 112:1-5.
    • (2002) Am J Med Genet , vol.112 , pp. 1-5
    • Hall, C.R.1    Cole, W.G.2    Haynes, R.3    Hecht, J.T.4
  • 139
    • 0022654257 scopus 로고
    • The McCune-Albright syndrome: A lethal gene surviving by mosaicism
    • Happle R. 1986. The McCune-Albright syndrome: A lethal gene surviving by mosaicism. Clin Genet 29:321-324.
    • (1986) Clin Genet , vol.29 , pp. 321-324
    • Happle, R.1
  • 140
    • 0030209740 scopus 로고    scopus 로고
    • Gs protein mutations and the pathogenesis and function of pituitary tumors
    • Harris PE. 1996. Gs protein mutations and the pathogenesis and function of pituitary tumors. Metabolism 45:120-122.
    • (1996) Metabolism , vol.45 , pp. 120-122
    • Harris, P.E.1
  • 141
    • 0035830506 scopus 로고    scopus 로고
    • Wnt-14 plays a pivotal role in inducing synovial joint formation in the developing appendicular skeleton
    • Hartmann C, Tabin CJ. 2001. Wnt-14 plays a pivotal role in inducing synovial joint formation in the developing appendicular skeleton. Cell 104:341-351.
    • (2001) Cell , vol.104 , pp. 341-351
    • Hartmann, C.1    Tabin, C.J.2
  • 142
    • 0032433682 scopus 로고    scopus 로고
    • Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins
    • Hayward BE, Moran V, Strain L. 1998. Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins. Proc Natl Acad Sci USA 95:1575-15780.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1575-15780
    • Hayward, B.E.1    Moran, V.2    Strain, L.3
  • 143
    • 0028917663 scopus 로고
    • Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8
    • Hecht JT, Hogue D, Strong LC, Hansen MF, Blanton SH, Wagner M. 1995. Hereditary multiple exostosis and chondrosarcoma: Linkage to chromosome 11 and loss of heterozygosity for EXT-linked markers on chromosomes 11 and 8. Am J Hum Genet 56:1125-1131.
    • (1995) Am J Hum Genet , vol.56 , pp. 1125-1131
    • Hecht, J.T.1    Hogue, D.2    Strong, L.C.3    Hansen, M.F.4    Blanton, S.H.5    Wagner, M.6
  • 145
    • 0037383555 scopus 로고    scopus 로고
    • Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder wth cone-shaped epiphyses in hands and hips
    • Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR. 2003. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder wth cone-shaped epiphyses in hands and hips. Am J Hum Genet 72:1040-1046.
    • (2003) Am J Hum Genet , vol.72 , pp. 1040-1046
    • Hellemans, J.1    Coucke, P.J.2    Giedion, A.3    De Paepe, A.4    Kramer, P.5    Beemer, F.6    Mortier, G.R.7
  • 147
    • 0036165541 scopus 로고    scopus 로고
    • Transcriptional dysregulation in skeletal malformation syndromes
    • Hermanns P, Lee B, 2001. Transcriptional dysregulation in skeletal malformation syndromes. Am J Med Genet (Semin Med Genet) 106:258-271.
    • (2001) Am J Med Genet (Semin Med Genet) , vol.106 , pp. 258-271
    • Hermanns, P.1    Lee, B.2
  • 148
    • 0026043763 scopus 로고
    • Structure and sequence of the human homeobox gene HOX 7
    • Hewitt JE, Clark LN, Ivens A, Williamson R. 1991. Structure and sequence of the human homeobox gene HOX 7. Genomics 11:670-678.
    • (1991) Genomics , vol.11 , pp. 670-678
    • Hewitt, J.E.1    Clark, L.N.2    Ivens, A.3    Williamson, R.4
  • 150
    • 17844363974 scopus 로고    scopus 로고
    • Canonical Wnt/β-catenin signaling prevents osteoblasts from differentiating into chondrocytes
    • Hill TP, Später D, Taketo MM, Birchmeier W, Hartmann C. 2005. Canonical Wnt/β-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell 8:727-738.
    • (2005) Dev Cell , vol.8 , pp. 727-738
    • Hill, T.P.1    Später, D.2    Taketo, M.M.3    Birchmeier, W.4    Hartmann, C.5
  • 151
    • 0021279699 scopus 로고
    • Lambdoid synostosis. Part 1: The lambdoid suture: Normal development and pathology of "synostosis"
    • Hinton DR, Becker LE, Muakkassa KF, Hoffman HJ. 1984. Lambdoid synostosis. Part 1: The lambdoid suture: Normal development and pathology of "synostosis". J Neurosurg 61:333-339.
    • (1984) J Neurosurg , vol.61 , pp. 333-339
    • Hinton, D.R.1    Becker, L.E.2    Muakkassa, K.F.3    Hoffman, H.J.4
  • 153
    • 0029737070 scopus 로고    scopus 로고
    • Bone morphogenetic proteins: Multifunctional regulators of vertebrate development
    • Hogan BLM. 1996. Bone morphogenetic proteins: Multifunctional regulators of vertebrate development. Genes Dev 10:1580-1594.
    • (1996) Genes Dev , vol.10 , pp. 1580-1594
    • Hogan, B.L.M.1
  • 154
    • 0026100213 scopus 로고
    • Cloning and evolutionary analysis of msh like homeobox genes from mouse, zebrafish and ascidian
    • Holland PWH. 1991. Cloning and evolutionary analysis of msh like homeobox genes from mouse, zebrafish and ascidian. Gene 98:253-257.
    • (1991) Gene , vol.98 , pp. 253-257
    • Holland, P.W.H.1
  • 158
  • 160
    • 13444302715 scopus 로고    scopus 로고
    • Sequential roles of Hedgehog and Wnt signaling in osteoblast development
    • Hu H, Hilton MJ, Tu X, Yu K, Ornitz D, Long F. 2005. Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development 132:49-60.
    • (2005) Development , vol.132 , pp. 49-60
    • Hu, H.1    Hilton, M.J.2    Tu, X.3    Yu, K.4    Ornitz, D.5    Long, F.6
  • 161
    • 0030866935 scopus 로고    scopus 로고
    • Mouse clavicular development: Analysis of wild-type and deidocranial dysplasia mutant mice
    • Huang L-F, Fukal N, Selby PB, Olsen BR, Mundlos S. 1997. Mouse clavicular development: Analysis of wild-type and deidocranial dysplasia mutant mice. Dev Dynamics 210:33-40.
    • (1997) Dev Dynamics , vol.210 , pp. 33-40
    • Huang, L.-F.1    Fukal, N.2    Selby, P.B.3    Olsen, B.R.4    Mundlos, S.5
  • 165
    • 0029816344 scopus 로고    scopus 로고
    • Has the quest for a Wnt receptor finally frizzled out?
    • Ingham PW. 1996. Has the quest for a Wnt receptor finally frizzled out? Trends Genet 12:382-384.
    • (1996) Trends Genet , vol.12 , pp. 382-384
    • Ingham, P.W.1
  • 167
    • 0033400822 scopus 로고    scopus 로고
    • Molecular basis of tissue-specific gene expression mediated by the Runt domain transcription factor PEBP2/CBF
    • Ito Y. 1999. Molecular basis of tissue-specific gene expression mediated by the Runt domain transcription factor PEBP2/CBF. Genes Cells 4:685-696.
    • (1999) Genes Cells , vol.4 , pp. 685-696
    • Ito, Y.1
  • 168
    • 0000335533 scopus 로고    scopus 로고
    • The runt domain transcription factor, PEBP2/ CBF, and its involvement in human leukemia
    • Karin M, editor. Basel, Switzerland: Birkhäuser Verlag
    • Ito Y, Bae S-C. 1997. The runt domain transcription factor, PEBP2/ CBF, and its involvement in human leukemia. In: Karin M, editor. Progress in Gene Expression. Basel, Switzerland: Birkhäuser Verlag, pp. 107-132.
    • (1997) Progress in Gene Expression , pp. 107-132
    • Ito, Y.1    Bae, S.-C.2
  • 169
    • 0034533657 scopus 로고    scopus 로고
    • Signaling of transforming growth factor-β family members through Smad proteins
    • Itoh S, Itoh F, Goumans M-J, ten Dijke P. 2000. Signaling of transforming growth factor-β family members through Smad proteins. Eur J Biochem 267:6954-6967.
    • (2000) Eur J Biochem , vol.267 , pp. 6954-6967
    • Itoh, S.1    Itoh, F.2    Goumans, M.-J.3    Ten Dijke, P.4
  • 170
    • 0025361004 scopus 로고
    • The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome
    • Ivens A, Flavin A, Williamson R, Dixon M, Bates G, Buckingham M, Robert B. 1990. The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschorn syndrome. Hum Genet 84:473-476.
    • (1990) Hum Genet , vol.84 , pp. 473-476
    • Ivens, A.1    Flavin, A.2    Williamson, R.3    Dixon, M.4    Bates, G.5    Buckingham, M.6    Robert, B.7
  • 174
    • 0031860248 scopus 로고    scopus 로고
    • Msx-2 expression and glucocorticoid-induced overexpression in embryonic mouse submandibular glands
    • Jaskoll T, Luo W, Snead ML. 1998. Msx-2 expression and glucocorticoid-induced overexpression in embryonic mouse submandibular glands. J Craniofac Genet Dev Biol 18:79-87.
    • (1998) J Craniofac Genet Dev Biol , vol.18 , pp. 79-87
    • Jaskoll, T.1    Luo, W.2    Snead, M.L.3
  • 175
    • 0033998420 scopus 로고    scopus 로고
    • Reiterative signaling and patterning in mammalian tooth morphogenesis
    • Jernvall J, Thesleff I. 2000. Reiterative signaling and patterning in mammalian tooth morphogenesis. Mech Dev 92:19-29.
    • (2000) Mech Dev , vol.92 , pp. 19-29
    • Jernvall, J.1    Thesleff, I.2
  • 177
    • 0242655673 scopus 로고    scopus 로고
    • Collagenase-3 is a target of Cbfa1, a transcription factor of the runt gene family involved in bone formation
    • Jimenez MJ, Balbin M, Lopez JM, Alvarez J, Komori T, Lopez-Otin C. 1999. Collagenase-3 is a target of Cbfa1, a transcription factor of the runt gene family involved in bone formation. Mol Cell Biol 19:4431-4442.
    • (1999) Mol Cell Biol , vol.19 , pp. 4431-4442
    • Jimenez, M.J.1    Balbin, M.2    Lopez, J.M.3    Alvarez, J.4    Komori, T.5    Lopez-Otin, C.6
  • 178
    • 0032128253 scopus 로고    scopus 로고
    • Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
    • 1998
    • Jobert A-S, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. 1998. Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102:34-40, 1998.
    • (1998) J Clin Invest , vol.102 , pp. 34-40
    • Jobert, A.-S.1    Zhang, P.2    Couvineau, A.3    Bonaventure, J.4    Roume, J.5    Le Merrer, M.6    Silve, C.7
  • 179
    • 0027344852 scopus 로고
    • Structural and functional diversity in the FGF receptor and multigene family
    • Johnson DE, Williams LT. 1993. Structural and functional diversity in the FGF receptor and multigene family. Adv Cancer Res 60:1-41.
    • (1993) Adv Cancer Res , vol.60 , pp. 1-41
    • Johnson, D.E.1    Williams, L.T.2
  • 181
    • 0027467238 scopus 로고
    • Epithelial-mesenchymal interactions are required for MSX1 and MSX2 gene expression in the developing murine molar tooth
    • Jowett AK, Vainio S, Ferguson MW, Sharpe PT, Thesleff I. 1993. Epithelial-mesenchymal interactions are required for MSX1 and MSX2 gene expression in the developing murine molar tooth. Development 117:461-470.
    • (1993) Development , vol.117 , pp. 461-470
    • Jowett, A.K.1    Vainio, S.2    Ferguson, M.W.3    Sharpe, P.T.4    Thesleff, I.5
  • 183
    • 13144250154 scopus 로고    scopus 로고
    • The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3
    • Jüppner H, Schipani E, Bastepe M. 1998. The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3. Proc Natl Acad Sci USA 95:1178-1180.
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 1178-1180
    • Jüppner, H.1    Schipani, E.2    Bastepe, M.3
  • 184
    • 0037370510 scopus 로고    scopus 로고
    • Fibrillin controls TGF-β activation
    • Kaartinen V, Warburton D. 2003. Fibrillin controls TGF-β activation. Nat Genet 33:331-332.
    • (2003) Nat Genet , vol.33 , pp. 331-332
    • Kaartinen, V.1    Warburton, D.2
  • 185
    • 0029176870 scopus 로고
    • Extracellular matrix 1: Fibril-forming collagens
    • Kadler KE. 1995. Extracellular matrix 1: Fibril-forming collagens. Protein Profile 2:491-619.
    • (1995) Protein Profile , vol.2 , pp. 491-619
    • Kadler, K.E.1
  • 189
    • 0031725947 scopus 로고    scopus 로고
    • Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
    • Karaplis AC, He B, Nguyen MTA, Young ID, Semeraro D, Ozawa H, Amizuka N. 1998. Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139:5255-5258.
    • (1998) Endocrinology , vol.139 , pp. 5255-5258
    • Karaplis, A.C.1    He, B.2    Nguyen, M.T.A.3    Young, I.D.4    Semeraro, D.5    Ozawa, H.6    Amizuka, N.7
  • 191
    • 0033402201 scopus 로고    scopus 로고
    • The genetic transformation of bone biology
    • Karsenty G. 1999. The genetic transformation of bone biology. Genes Dev 13:3037-3051.
    • (1999) Genes Dev , vol.13 , pp. 3037-3051
    • Karsenty, G.1
  • 195
    • 0031922720 scopus 로고    scopus 로고
    • FGF-, BMP- and Shh-mediated signaling pathways in the regulation of cranial suture morphogenesis and calvarial bone development
    • Kim H-J, Rice DPC, Kettunen PJ, Thesleff I. 1998. FGF-, BMP- and Shh-mediated signaling pathways in the regulation of cranial suture morphogenesis and calvarial bone development. Development 125:1241-1251.
    • (1998) Development , vol.125 , pp. 1241-1251
    • Kim, H.-J.1    Rice, D.P.C.2    Kettunen, P.J.3    Thesleff, I.4
  • 196
    • 0028180315 scopus 로고
    • The TGF-β superfamily: New members, new receptors, and new genetic tests of function in different organisms
    • Kingsley DM. 1994a. The TGF-β superfamily: New members, new receptors, and new genetic tests of function in different organisms. Genes Dev 8:133-146.
    • (1994) Genes Dev , vol.8 , pp. 133-146
    • Kingsley, D.M.1
  • 197
    • 0027976891 scopus 로고
    • What do BMPs do in mammals? Clues from the mouse short-ear mutation
    • Kingsley DM. 1994b. What do BMPs do in mammals? Clues from the mouse short-ear mutation. Trends Genet 10:16-21.
    • (1994) Trends Genet , vol.10 , pp. 16-21
    • Kingsley, D.M.1
  • 200
    • 0037240892 scopus 로고    scopus 로고
    • Identification of a mutation in the Indian hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus
    • Kirkpatrick TJ, Au K-S, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. 2003. Identification of a mutation in the Indian hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40:42-44.
    • (2003) J Med Genet , vol.40 , pp. 42-44
    • Kirkpatrick, T.J.1    Au, K.-S.2    Mastrobattista, J.M.3    McCready, M.E.4    Bulman, D.E.5    Northrup, H.6
  • 201
    • 0032222793 scopus 로고    scopus 로고
    • Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor 3 gene causes thanatophoric dysplasia type I
    • Kitoh H, Brodie SG, Kupke KG, Lachman RS, Wilcox WR. 1998. Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor 3 gene causes thanatophoric dysplasia type I. Hum Mutat 12:362-363.
    • (1998) Hum Mutat , vol.12 , pp. 362-363
    • Kitoh, H.1    Brodie, S.G.2    Kupke, K.G.3    Lachman, R.S.4    Wilcox, W.R.5
  • 216
    • 0026077914 scopus 로고
    • Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization
    • Levine MA, Modi WS, O'Brien SJ. 1991. Mapping of the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase (GNAS1) to 20q13.2-q13.3 in human by in situ hybridization. Genomics 11:478-479.
    • (1991) Genomics , vol.11 , pp. 478-479
    • Levine, M.A.1    Modi, W.S.2    O'Brien, S.J.3
  • 217
    • 0036528341 scopus 로고    scopus 로고
    • The role of MSX1 in human tooth agenesis
    • Lidral AC, Reising BC. 2002. The role of MSX1 in human tooth agenesis. J Dent Res 81:274-278.
    • (2002) J Dent Res , vol.81 , pp. 274-278
    • Lidral, A.C.1    Reising, B.C.2
  • 218
    • 17644372378 scopus 로고    scopus 로고
    • A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a exacting imprinting control element of GNAS
    • Linglart A, Gensure RC, Olney RC, Jüppner H, Bastepe M. 2005. A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a exacting imprinting control element of GNAS. Am J Hum Genet 76:804-814.
    • (2005) Am J Hum Genet , vol.76 , pp. 804-814
    • Linglart, A.1    Gensure, R.C.2    Olney, R.C.3    Jüppner, H.4    Bastepe, M.5
  • 219
    • 0025307712 scopus 로고
    • Hereditary cranium bifidum and symmetric parietal foramina are the same entity
    • Little BB, Knoll KA, Klein VR, Heller KB. 1990. Hereditary cranium bifidum and symmetric parietal foramina are the same entity. Am J Med Genet 35:453-458.
    • (1990) Am J Med Genet , vol.35 , pp. 453-458
    • Little, B.B.1    Knoll, K.A.2    Klein, V.R.3    Heller, K.B.4
  • 221
    • 0035936797 scopus 로고    scopus 로고
    • The TNF and TNF receptor superfamilies: Integrating mammalian biology
    • Locksley RM, Killeen N, Lenardo MJ. 2001. The TNF and TNF receptor superfamilies: Integrating mammalian biology. Cell 104:487-501.
    • (2001) Cell , vol.104 , pp. 487-501
    • Locksley, R.M.1    Killeen, N.2    Lenardo, M.J.3
  • 224
    • 0033428271 scopus 로고    scopus 로고
    • Letter to the editor. A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient
    • Lucotte G, Sémonin O, Lutz P. 1999. Letter to the editor. A de novo heterozygous deletion of 42 base-pairs in the noggin gene of a fibrodysplasia ossificans progressiva patient. Clin Genet 56:469-470.
    • (1999) Clin Genet , vol.56 , pp. 469-470
    • Lucotte, G.1    Sémonin, O.2    Lutz, P.3
  • 225
    • 0002758824 scopus 로고    scopus 로고
    • Teeth in osteogenesis imperfecta: A mirror of genetic collagen defects?
    • Cohen MM, Jr., Baum BJ, editors. Amsterdam: IOS Press, Chap. 13
    • Luder HV, Steinmann B. 1997. Teeth in osteogenesis imperfecta: A mirror of genetic collagen defects? In: Cohen MM, Jr., Baum BJ, editors. Studies in Stomatology and Craniofacial Biology. Amsterdam: IOS Press, Chap. 13, pp. 209-228.
    • (1997) Studies in Stomatology and Craniofacial Biology , pp. 209-228
    • Luder, H.V.1    Steinmann, B.2
  • 226
    • 2942738996 scopus 로고    scopus 로고
    • The Hedgehog response network: Sensors, switches, and routers
    • Lum L, Beachy PA. 2004. The Hedgehog response network: Sensors, switches, and routers. Science 304:1755-1759.
    • (2004) Science , vol.304 , pp. 1755-1759
    • Lum, L.1    Beachy, P.A.2
  • 229
    • 0028323562 scopus 로고
    • An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the G(s) alpha-subunit from a bone lesion
    • Malchoff CD, Reardon G, MacGillivrary DC, Yamase H, Rogol AD, Malchoff DM. 1994. An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the G(s) alpha-subunit from a bone lesion. J Clin Endocrinol Metab 78:803-806.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 803-806
    • Malchoff, C.D.1    Reardon, G.2    MacGillivrary, D.C.3    Yamase, H.4    Rogol, A.D.5    Malchoff, D.M.6
  • 230
  • 231
    • 18244427021 scopus 로고    scopus 로고
    • Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway
    • Mao J, Wang J, Liu B, Pan W, Farr GH, Flynn C, Yuan H, Takeda S, Kimelman D, Li L, Wu D. 2001. Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway. Mol Cell 7:801-809.
    • (2001) Mol Cell , vol.7 , pp. 801-809
    • Mao, J.1    Wang, J.2    Liu, B.3    Pan, W.4    Farr, G.H.5    Flynn, C.6    Yuan, H.7    Takeda, S.8    Kimelman, D.9    Li, L.10    Wu, D.11
  • 233
    • 4444308702 scopus 로고    scopus 로고
    • Coming to grips with bone loss
    • Marx J. 2004. Coming to grips with bone loss. Science 305:1420-1422.
    • (2004) Science , vol.305 , pp. 1420-1422
    • Marx, J.1
  • 234
    • 0028088073 scopus 로고
    • The ins and outs of fibroblast growth factors
    • Mason I. 1994. The ins and outs of fibroblast growth factors. Cell 78:547-552.
    • (1994) Cell , vol.78 , pp. 547-552
    • Mason, I.1
  • 235
    • 0031685620 scopus 로고    scopus 로고
    • TGFβ signal transduction
    • Massagué J. 1998. TGFβ signal transduction. Annu Rev Biochem 67:753-791.
    • (1998) Annu Rev Biochem , vol.67 , pp. 753-791
    • Massagué, J.1
  • 236
    • 0034678908 scopus 로고    scopus 로고
    • Transcriptional control by the TGFβ/ Smad signaling system
    • Massagué J, Wotton D. 2000. Transcriptional control by the TGFβ/ Smad signaling system. EMBO J 19:1745-1754.
    • (2000) EMBO J , vol.19 , pp. 1745-1754
    • Massagué, J.1    Wotton, D.2
  • 240
    • 0034614616 scopus 로고    scopus 로고
    • The mammalian basic helix loop helix protein HES-1 binds to and modulates the transactivating function of the runt-related factor Cbfal
    • McLarren KW, Lo R, Grbavec D, Thirunavukkarasu K, Karsenty G, Stifani S. 2000. The mammalian basic helix loop helix protein HES-1 binds to and modulates the transactivating function of the runt-related factor Cbfal. J Biol Chem 275:530-538.
    • (2000) J Biol Chem , vol.275 , pp. 530-538
    • McLarren, K.W.1    Lo, R.2    Grbavec, D.3    Thirunavukkarasu, K.4    Karsenty, G.5    Stifani, S.6
  • 241
    • 0036309555 scopus 로고    scopus 로고
    • Secondary osteoporosis and the risk of distal forearm fractures in men and women
    • Melton LJ, Achenbach SJ, O'Fallon WM, Khosla S. 2002. Secondary osteoporosis and the risk of distal forearm fractures in men and women. Bone 31:119-125.
    • (2002) Bone , vol.31 , pp. 119-125
    • Melton, L.J.1    Achenbach, S.J.2    O'Fallon, W.M.3    Khosla, S.4
  • 246
    • 0023940794 scopus 로고
    • Latent high molecular weight complex of transforming growth factor β1. Purification from human platelets and structural characterization
    • Miyazono K, Hellman U, Wernstedt C, Heldin CH. 1988. Latent high molecular weight complex of transforming growth factor β1. Purification from human platelets and structural characterization. J Biol Chem 263:6407-6415.
    • (1988) J Biol Chem , vol.263 , pp. 6407-6415
    • Miyazono, K.1    Hellman, U.2    Wernstedt, C.3    Heldin, C.H.4
  • 247
    • 0025765844 scopus 로고
    • A role of latent TGF-beta 1-binding protein in the assembly and secretion of TGF-beta 1
    • Miyazono K, Olofsson A, Colosetti P, Heldin CH. 1991. A role of latent TGF-beta 1-binding protein in the assembly and secretion of TGF-beta 1. EMBO J 10:1091-1101.
    • (1991) EMBO J , vol.10 , pp. 1091-1101
    • Miyazono, K.1    Olofsson, A.2    Colosetti, P.3    Heldin, C.H.4
  • 250
    • 0031128225 scopus 로고    scopus 로고
    • WNTs modulate cell fate and behavior during vertebrate development
    • Moon RT, Brown JD, Torres M. 1997. WNTs modulate cell fate and behavior during vertebrate development. Trends Genet 13:157-162.
    • (1997) Trends Genet , vol.13 , pp. 157-162
    • Moon, R.T.1    Brown, J.D.2    Torres, M.3
  • 253
    • 0034111555 scopus 로고    scopus 로고
    • Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene
    • Mortier G, Nuytinck L, Craen M, Renard J-P, Leroy JG, De Paepe A. 2000. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. J Med Genet 37:220-224.
    • (2000) J Med Genet , vol.37 , pp. 220-224
    • Mortier, G.1    Nuytinck, L.2    Craen, M.3    Renard, J.-P.4    Leroy, J.G.5    De Paepe, A.6
  • 254
    • 0037337526 scopus 로고    scopus 로고
    • Acrocapitofemoral dysplasia: An autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips
    • Mortier GR, Kramer PPG, Giedion A, Beemer FA. 2003. Acrocapitofemoral dysplasia: An autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. J Med Genet 40:201-207.
    • (2003) J Med Genet , vol.40 , pp. 201-207
    • Mortier, G.R.1    Kramer, P.P.G.2    Giedion, A.3    Beemer, F.A.4
  • 255
    • 0031002023 scopus 로고    scopus 로고
    • Journey across the osteoclast
    • Mostov K, Werb Z. 1997. Journey across the osteoclast. Science 276:219-220.
    • (1997) Science , vol.276 , pp. 219-220
    • Mostov, K.1    Werb, Z.2
  • 256
    • 0005721590 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor-related skeletal disorders
    • Jameson JL, editor. Totowa, NJ: Humana Press
    • Muenke M, Francomano CA, Cohen MM Jr, Jabs EW. 1998. Fibroblast growth factor receptor-related skeletal disorders. In: Jameson JL, editor. Principles of molecular medicine. Totowa, NJ: Humana Press, pp. 1029-1038.
    • (1998) Principles of Molecular Medicine , pp. 1029-1038
    • Muenke, M.1    Francomano, C.A.2    Cohen Jr., M.M.3    Jabs, E.W.4
  • 257
    • 0033048965 scopus 로고    scopus 로고
    • Cleidocranial dysplasia: Clinical and molecular genetics
    • Mundlos S. 1999. Cleidocranial dysplasia: Clinical and molecular genetics. J Med Genet 36:177-182.
    • (1999) J Med Genet , vol.36 , pp. 177-182
    • Mundlos, S.1
  • 259
    • 0030755074 scopus 로고    scopus 로고
    • Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder
    • Muñoz F, Lestringant G, Sybert V, Frydman M, Alswaini A, Frossard PM, Jorgenson R. 1997. Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. Am J Hum Genet 61:94-100.
    • (1997) Am J Hum Genet , vol.61 , pp. 94-100
    • Muñoz, F.1    Lestringant, G.2    Sybert, V.3    Frydman, M.4    Alswaini, A.5    Frossard, P.M.6    Jorgenson, R.7
  • 260
    • 0032231350 scopus 로고    scopus 로고
    • Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
    • Monreal AX, Zonana J, Ferguson B. 1998. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet 63:380-389.
    • (1998) Am J Hum Genet , vol.63 , pp. 380-389
    • Monreal, A.X.1    Zonana, J.2    Ferguson, B.3
  • 261
    • 0027410053 scopus 로고
    • Assignment of a gene locus involved in craniosynostosis to chromosome 5qter
    • Müller U, Warman ML, Mulliken JB, Weber JL. 1993. Assignment of a gene locus involved in craniosynostosis to chromosome 5qter. Hum Mol Genet 2:119-122.
    • (1993) Hum Mol Genet , vol.2 , pp. 119-122
    • Müller, U.1    Warman, M.L.2    Mulliken, J.B.3    Weber, J.L.4
  • 263
    • 0042204967 scopus 로고    scopus 로고
    • Transcriptional mecha3 nisms in osteoblast differentiation and bone formation
    • Nakashima K, de Crombrugghe B. 2003. Transcriptional mecha3 nisms in osteoblast differentiation and bone formation. Trends Genet 19:458-466.
    • (2003) Trends Genet , vol.19 , pp. 458-466
    • Nakashima, K.1    De Crombrugghe, B.2
  • 264
    • 0037059614 scopus 로고    scopus 로고
    • The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation
    • Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, Behringer RR, de Crombrugghe B. 2002. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 108:17-29.
    • (2002) Cell , vol.108 , pp. 17-29
    • Nakashima, K.1    Zhou, X.2    Kunkel, G.3    Zhang, Z.4    Deng, J.M.5    Behringer, R.R.6    De Crombrugghe, B.7
  • 268
    • 0030779871 scopus 로고    scopus 로고
    • Structure-function analysis of Msx2-mediated transcriptional suppression
    • Newberry EP, Latifi T, Battaile JT, Towler DA. 1997. Structure-function analysis of Msx2-mediated transcriptional suppression. Biochemistry 36:10451-10462.
    • (1997) Biochemistry , vol.36 , pp. 10451-10462
    • Newberry, E.P.1    Latifi, T.2    Battaile, J.T.3    Towler, D.A.4
  • 270
    • 0029991079 scopus 로고    scopus 로고
    • Genomic organization of the human beta-catenin gene (CTNNB1)
    • Nollet F, Berx G, Molemans F, van Roy F. 1996. Genomic organization of the human beta-catenin gene (CTNNB1). Genomics 32:413-424.
    • (1996) Genomics , vol.32 , pp. 413-424
    • Nollet, F.1    Berx, G.2    Molemans, F.3    Van Roy, F.4
  • 271
    • 0032916351 scopus 로고    scopus 로고
    • WNT targets: Repression and activation
    • Nusse R. 1999. WNT targets: Repression and activation. Trends Genet 15:1-3.
    • (1999) Trends Genet , vol.15 , pp. 1-3
    • Nusse, R.1
  • 272
    • 33845235643 scopus 로고    scopus 로고
    • ANKH and craniometaphyseal dysplasia
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. New York: Oxford University Press, Chapter 104
    • Nürnberg P, Tinschert S. 2004. ANKH and craniometaphyseal dysplasia. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn Errors of Development, New York: Oxford University Press, Chapter 104, pp. 1007-1013.
    • (2004) Inborn Errors of Development , pp. 1007-1013
    • Nürnberg, P.1    Tinschert, S.2
  • 278
    • 0035081241 scopus 로고    scopus 로고
    • Protein family review: Fibroblast growth factors
    • Ornitz DM, Itoh N. 2001. Protein family review: Fibroblast growth factors. Genome Biol 2:3005.1-3005.12.
    • (2001) Genome Biol , vol.2
    • Ornitz, D.M.1    Itoh, N.2
  • 281
    • 0028951117 scopus 로고
    • Dorsalizing signal Wnt-7 required for normal polarity of D-V and A-P axes of mouse limb
    • Parr BA, McMahon AP. 1995. Dorsalizing signal Wnt-7 required for normal polarity of D-V and A-P axes of mouse limb. Nature 374:350-353.
    • (1995) Nature , vol.374 , pp. 350-353
    • Parr, B.A.1    McMahon, A.P.2
  • 284
    • 0033082377 scopus 로고    scopus 로고
    • Teeth: Where and how to make them
    • Peters H, Balling R. 1999. Teeth: Where and how to make them. Trends Genet 15:59-65.
    • (1999) Trends Genet , vol.15 , pp. 59-65
    • Peters, H.1    Balling, R.2
  • 287
    • 0031912018 scopus 로고    scopus 로고
    • Identification of a mutation in DLX3 associated with trichodento-osseous (TDO) syndrome
    • Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. 1998. Identification of a mutation in DLX3 associated with trichodento-osseous (TDO) syndrome. Hum Mol Genet 7:563-569.
    • (1998) Hum Mol Genet , vol.7 , pp. 563-569
    • Price, J.A.1    Bowden, D.W.2    Wright, J.T.3    Pettenati, M.J.4    Hart, T.C.5
  • 288
    • 0003172887 scopus 로고
    • A novel 346E FGFR3 mutation in achondroplasia
    • Prinos P, Kilpatrick MW, Tsipouras P. 1995. A novel 346E FGFR3 mutation in achondroplasia. Pediatr Res 37:pt 2:151A.
    • (1995) Pediatr Res , vol.37 , Issue.PART 2
    • Prinos, P.1    Kilpatrick, M.W.2    Tsipouras, P.3
  • 290
    • 0001930874 scopus 로고
    • The structure and development of cranial and facial sutures
    • Pritchard JJ, Scott JH, Girgis FG. 1956. The structure and development of cranial and facial sutures. J Anat 90:73-86.
    • (1956) J Anat , vol.90 , pp. 73-86
    • Pritchard, J.J.1    Scott, J.H.2    Girgis, F.G.3
  • 292
    • 0032994309 scopus 로고    scopus 로고
    • The genetics of osteoporosis
    • Ralston SH. 1999. The genetics of osteoporosis. Bone 25:85-86.
    • (1999) Bone , vol.25 , pp. 85-86
    • Ralston, S.H.1
  • 294
    • 0028916693 scopus 로고
    • Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11
    • Raskind WH, Conrad EU, Chansky H, Matsushita M. 1995. Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11. Am J Hum Genet 56:1132-1139.
    • (1995) Am J Hum Genet , vol.56 , pp. 1132-1139
    • Raskind, W.H.1    Conrad, E.U.2    Chansky, H.3    Matsushita, M.4
  • 295
    • 1942501149 scopus 로고    scopus 로고
    • Osteogenesis imperfecta
    • Rauch F, Glorieux FH. 2004. Osteogenesis imperfecta. Lancet 363:1377-1385.
    • (2004) Lancet , vol.363 , pp. 1377-1385
    • Rauch, F.1    Glorieux, F.H.2
  • 297
    • 0032490744 scopus 로고    scopus 로고
    • Syndromal foramina parietalia permagna: "New" or FG syndrome? Comments on the paper by Chrzanowska et al. [1998]
    • Rauch A, Opitz JM, Walker D. 1998. Syndromal foramina parietalia permagna: "New" or FG syndrome? Comments on the paper by Chrzanowska et al. [1998]. Am J Med Genet 78:406-407.
    • (1998) Am J Med Genet , vol.78 , pp. 406-407
    • Rauch, A.1    Opitz, J.M.2    Walker, D.3
  • 298
    • 0034267930 scopus 로고    scopus 로고
    • Temporal and spatial expression of bone morphogenetic protein-2. -4, and -7 during distraction osteogenesis in rabbits
    • Rauch F, Lauzier D, Croteau S. 2000. Temporal and spatial expression of bone morphogenetic protein-2. -4, and -7 during distraction osteogenesis in rabbits. Bone 27:453-459.
    • (2000) Bone , vol.27 , pp. 453-459
    • Rauch, F.1    Lauzier, D.2    Croteau, S.3
  • 299
    • 0036309123 scopus 로고    scopus 로고
    • The bone formation defect in idiopathic juvenile osteoporosis is surface-specific
    • Rauch F, Travers R, Norman ME, Taylor A, Parfitt AM, Glorieux FH. 2002. The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. Bone 31:85-89.
    • (2002) Bone , vol.31 , pp. 85-89
    • Rauch, F.1    Travers, R.2    Norman, M.E.3    Taylor, A.4    Parfitt, A.M.5    Glorieux, F.H.6
  • 300
    • 4244030769 scopus 로고    scopus 로고
    • Bone morphogenetic proteins in context: New concepts for stomatology and craniofacial biology
    • Cohen MM, Jr., Baum BJ, editors. Amsterdam: IOS Press, Chap. 9
    • Reddi AH, Binderman I. 1997. Bone morphogenetic proteins in context: New concepts for stomatology and craniofacial biology. In: Cohen MM, Jr., Baum BJ, editors. Studies in Stomatology and Craniofacial Biology. Amsterdam: IOS Press, Chap. 9, pp. 117-126.
    • (1997) Studies in Stomatology and Craniofacial Biology , pp. 117-126
    • Reddi, A.H.1    Binderman, I.2
  • 301
    • 17244376814 scopus 로고    scopus 로고
    • Wnt signalling in stem cells and cancer
    • Reya T, Clevers H. 2005. Wnt signalling in stem cells and cancer. Nature 434:843-850.
    • (2005) Nature , vol.434 , pp. 843-850
    • Reya, T.1    Clevers, H.2
  • 302
    • 0037386191 scopus 로고    scopus 로고
    • Analysis of GNAS1 and overlapping transcripts identifies the paternal origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA
    • Rickard SJ, Wilson LC. 2003. Analysis of GNAS1 and overlapping transcripts identifies the paternal origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA. Am J Hum Genet 72:901-974.
    • (2003) Am J Hum Genet , vol.72 , pp. 901-974
    • Rickard, S.J.1    Wilson, L.C.2
  • 304
    • 4243877645 scopus 로고    scopus 로고
    • The role of in vitro analysis in unraveling the cause and providing the potential cure of osteogenesis imperfecta
    • Cohen MM, Jr., Baum B, editors. Amsterdam: IOS Press, Chap. 14
    • Robey PG, Fedarko NS, Veter UK. 1997. The role of in vitro analysis in unraveling the cause and providing the potential cure of osteogenesis imperfecta. In: Cohen MM, Jr., Baum B, editors. Studies in Stomatology and Craniofacial Biology. Amsterdam: IOS Press, Chap. 14, pp. 229-244.
    • (1997) Studies in Stomatology and Craniofacial Biology , pp. 229-244
    • Robey, P.G.1    Fedarko, N.S.2    Veter, U.K.3
  • 306
    • 0030690556 scopus 로고    scopus 로고
    • The missing bone
    • Rodan GA, Harada S. 1997. The missing bone. Cell 89:077-680.
    • (1997) Cell , vol.89 , pp. 77-680
    • Rodan, G.A.1    Harada, S.2
  • 309
    • 0026575663 scopus 로고
    • The BMP proteins in bone formation and repair
    • Rosen V, Thies RS. 1992. The BMP proteins in bone formation and repair. Trends Genet 8:97-102.
    • (1992) Trends Genet , vol.8 , pp. 97-102
    • Rosen, V.1    Thies, R.S.2
  • 314
    • 0013681307 scopus 로고    scopus 로고
    • Making sense with antisense: Determining the roles of Msx genes in mouse whole embryo culture
    • Cohen MM, Jr., Baum BJ, editors. Amsterdam: IOS Press
    • Sadler TW, Potts LF. 1997. Making sense with antisense: Determining the roles of Msx genes in mouse whole embryo culture. In: Cohen MM, Jr., Baum BJ, editors. Studies in Stomatology and Craniofacial Biology. Amsterdam: IOS Press, pp. 59-66.
    • (1997) Studies in Stomatology and Craniofacial Biology , pp. 59-66
    • Sadler, T.W.1    Potts, L.F.2
  • 315
    • 0037062451 scopus 로고    scopus 로고
    • A gene network model accounting for development and evolution of mammalian teeth
    • Salazar-Ciudad I, Jernvall J. 2002. A gene network model accounting for development and evolution of mammalian teeth. Proc Natl Acad Sci USA 99:8116-8120.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 8116-8120
    • Salazar-Ciudad, I.1    Jernvall, J.2
  • 318
    • 0028292605 scopus 로고
    • Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development
    • Satokata I, Maas R. 1994. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 6:348-356.
    • (1994) Nat Genet , vol.6 , pp. 348-356
    • Satokata, I.1    Maas, R.2
  • 319
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Juppner H. 1995. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 208:98-100.
    • (1995) Science , vol.208 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Juppner, H.3
  • 320
    • 4544350596 scopus 로고    scopus 로고
    • Use of beta blockers and risk of fractures
    • Schlienger RG, Kraenzlin ME, Meier CR. 2004. Use of beta blockers and risk of fractures. JAMA 292:1320-1333.
    • (2004) JAMA , vol.292 , pp. 1320-1333
    • Schlienger, R.G.1    Kraenzlin, M.E.2    Meier, C.R.3
  • 321
    • 0027991209 scopus 로고
    • The natural history of hereditary multiple exostoses
    • Schmale GA, Conrad EU, Raskind WH. 1994. The natural history of hereditary multiple exostoses. J Bone Joint Surg 76A:986-992.
    • (1994) J Bone Joint Surg , vol.76 A , pp. 986-992
    • Schmale, G.A.1    Conrad, E.U.2    Raskind, W.H.3
  • 322
    • 0026694168 scopus 로고
    • Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome
    • Schwindinger WF, Francomano CA, Levine MA. 1992. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G-protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA 89:5152-5156.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5152-5156
    • Schwindinger, W.F.1    Francomano, C.A.2    Levine, M.A.3
  • 323
    • 0021885108 scopus 로고
    • Enhanced prostanoid release from monocytes of patients with rheumatoid arthritis and active systemic lupus erythematosus
    • Seitz M, Hunstein W. 1985. Enhanced prostanoid release from monocytes of patients with rheumatoid arthritis and active systemic lupus erythematosus. Ann Rheum Dis 44:438-445.
    • (1985) Ann Rheum Dis , vol.44 , pp. 438-445
    • Seitz, M.1    Hunstein, W.2
  • 324
    • 0034681454 scopus 로고    scopus 로고
    • Parathyroid hormone regulation of the rat collagenase-3 promoter by protein kinase. A-dependent transactivation of core binding factor alpha1
    • Selvamurugan N, Pulumati MR, Tyson DR, Partridge NC. 2000. Parathyroid hormone regulation of the rat collagenase-3 promoter by protein kinase. A-dependent transactivation of core binding factor alpha1. J Biol Chem 275:5037-5042.
    • (2000) J Biol Chem , vol.275 , pp. 5037-5042
    • Selvamurugan, N.1    Pulumati, M.R.2    Tyson, D.R.3    Partridge, N.C.4
  • 328
    • 0036848255 scopus 로고    scopus 로고
    • Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact
    • Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA. 2002. Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Molec Genet 11:2845-2854.
    • (2002) Hum Molec Genet , vol.11 , pp. 2845-2854
    • Sheen, V.L.1    Feng, Y.2    Graham, D.3    Takafuta, T.4    Shapiro, S.S.5    Walsh, C.A.6
  • 332
    • 0029091772 scopus 로고
    • Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the G(s)-alpha gene
    • Shenker A, Chanson P, Weinstein LS, Chi P, Spiegel AM, Lomri A, Marie PJ. 1995. Osteoblastic cells derived from isolated lesions of fibrous dysplasia contain activating somatic mutations of the G(s)-alpha gene. Hum Mol Genet 4:1675-1676.
    • (1995) Hum Mol Genet , vol.4 , pp. 1675-1676
    • Shenker, A.1    Chanson, P.2    Weinstein, L.S.3    Chi, P.4    Spiegel, A.M.5    Lomri, A.6    Marie, P.J.7
  • 334
    • 4444305202 scopus 로고    scopus 로고
    • Research letter. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy
    • Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. 2004. Research letter. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet Part A 128A:214-216.
    • (2004) Am J Med Genet Part A , vol.128 A , pp. 214-216
    • Shiihara, T.1    Kato, M.2    Kimura, T.3    Hayasaka, K.4    Yamamori, S.5    Ogata, T.6
  • 337
    • 33646348736 scopus 로고    scopus 로고
    • A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva
    • The FOP International Research Consortium
    • Shore EM, Xu M, Feldman GJ, Fenstermacher DA, The FOP International Research Consortium, Brown MA, Kaplan FS. 2006. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Nat Genet 38:525-527.
    • (2006) Nat Genet , vol.38 , pp. 525-527
    • Shore, E.M.1    Xu, M.2    Feldman, G.J.3    Fenstermacher, D.A.4    Brown, M.A.5    Kaplan, F.S.6
  • 338
    • 0018416379 scopus 로고
    • Genetic heterogeneity in osteogenesis imperfecta
    • Sillence DO, Senn A, Danks DM. 1979. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 10:101-110.
    • (1979) J Med Genet , vol.10 , pp. 101-110
    • Sillence, D.O.1    Senn, A.2    Danks, D.M.3
  • 339
    • 0000215170 scopus 로고
    • Zur Entwicklung der Nähte des Schädeldaches
    • Sitsen AE. 1933. Zur Entwicklung der Nähte des Schädeldaches. Z Ges Anat Z Anat Entw-Gesch 101:121-152.
    • (1933) Z Ges Anat Z Anat Entw-Gesch , vol.101 , pp. 121-152
    • Sitsen, A.E.1
  • 341
    • 0038039240 scopus 로고    scopus 로고
    • Loss of DNA-dependent dimerization of the transcription factor SOX9as a cause for campomelic dysplasia
    • Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G. 2003. Loss of DNA-dependent dimerization of the transcription factor SOX9as a cause for campomelic dysplasia. Hum Mol Genet 12:1439-1447.
    • (2003) Hum Mol Genet , vol.12 , pp. 1439-1447
    • Sock, E.1    Pagon, R.A.2    Keymolen, K.3    Lissens, W.4    Wegner, M.5    Scherer, G.6
  • 342
    • 0031044662 scopus 로고    scopus 로고
    • The molecular basis of disorders caused by defects in G proteins
    • Spiegel AM. 1997. The molecular basis of disorders caused by defects in G proteins. Horm Res 47:89-96.
    • (1997) Horm Res , vol.47 , pp. 89-96
    • Spiegel, A.M.1
  • 343
    • 12944252966 scopus 로고    scopus 로고
    • A novel 9 bp deletion in the filamin A gene causes an otopalatodigital-spectrum disorder with a variable intermediate phenotype
    • Stefanova M, Meinecke P, Gal A, Bolz H. 2005. A novel 9 bp deletion in the filamin A gene causes an otopalatodigital-spectrum disorder with a variable intermediate phenotype. Am J Med Genet Part A 132A:386-390.
    • (2005) Am J Med Genet Part A , vol.132 A , pp. 386-390
    • Stefanova, M.1    Meinecke, P.2    Gal, A.3    Bolz, H.4
  • 344
    • 0022403884 scopus 로고
    • Bone loss in autoimmune chronic active hepatitis on maintenance corticosteroid therapy
    • Stellon AJ, Davies A, Compston J, Williams R. 1985. Bone loss in autoimmune chronic active hepatitis on maintenance corticosteroid therapy. Gastroenterology 89:1078-1083.
    • (1985) Gastroenterology , vol.89 , pp. 1078-1083
    • Stellon, A.J.1    Davies, A.2    Compston, J.3    Williams, R.4
  • 348
    • 0035932945 scopus 로고    scopus 로고
    • FGF23, hypophosphatemia, and rickets: Has phosphorylation been found?
    • Strewler GJ. 2001. FGF23, hypophosphatemia, and rickets: Has phosphorylation been found? Proc Natl Acad Sci USA 98:5945-5946.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 5945-5946
    • Strewler, G.J.1
  • 349
    • 0028928630 scopus 로고
    • A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
    • Superti-Furga A, Eich G, Bucher HU, Wisser J, Giedion A, Gitzelmann R, Steinmann B. 1995. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Eur J Pediatr 154:215.
    • (1995) Eur J Pediatr , vol.154 , pp. 215
    • Superti-Furga, A.1    Eich, G.2    Bucher, H.U.3    Wisser, J.4    Giedion, A.5    Gitzelmann, R.6    Steinmann, B.7
  • 350
    • 0027865406 scopus 로고
    • Anomalies associated with hypodontia of the permanent lateral incisor and second premolar
    • Symons AL, Stritzel F, Stamatiou J. 1993. Anomalies associated with hypodontia of the permanent lateral incisor and second premolar. J Clin Pediatr Dent 17:109-111.
    • (1993) J Clin Pediatr Dent , vol.17 , pp. 109-111
    • Symons, A.L.1    Stritzel, F.2    Stamatiou, J.3
  • 352
    • 0035902140 scopus 로고    scopus 로고
    • The Hedgehog and Wnt signaling pathways in cancer
    • Taipale J, Beachy PA. 2001. The Hedgehog and Wnt signaling pathways in cancer. Nature 411:349-354.
    • (2001) Nature , vol.411 , pp. 349-354
    • Taipale, J.1    Beachy, P.A.2
  • 355
    • 0041864128 scopus 로고    scopus 로고
    • Common endocrine control of body weight, reproduction, and bone mass
    • Takeda S, Elefteriou F, Karsenty G. 2003. Common endocrine control of body weight, reproduction, and bone mass. Annu Rev Nutrit 23:403-411.
    • (2003) Annu Rev Nutrit , vol.23 , pp. 403-411
    • Takeda, S.1    Elefteriou, F.2    Karsenty, G.3
  • 356
    • 0028860562 scopus 로고
    • Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
    • Tavormina PL, Rimoin DL, Cohn DH, Zhu Y-Z, Shiang R, Wasmuth JJ. 1995a. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I. Hum Mol Genet 4:2175-2177.
    • (1995) Hum Mol Genet , vol.4 , pp. 2175-2177
    • Tavormina, P.L.1    Rimoin, D.L.2    Cohn, D.H.3    Zhu, Y.-Z.4    Shiang, R.5    Wasmuth, J.J.6
  • 359
    • 0034284970 scopus 로고    scopus 로고
    • Bone resorption by osteoclasts
    • Teitelbaum SL. 2000. Bone resorption by osteoclasts. Science 289:1504-1508.
    • (2000) Science , vol.289 , pp. 1504-1508
    • Teitelbaum, S.L.1
  • 360
    • 0003191973 scopus 로고    scopus 로고
    • Canadian consensus conference
    • The Canadian Consensus Conference on Menopause and Osteoporosis
    • The Canadian Consensus Conference on Menopause and Osteoporosis. 1998. Canadian consensus conference. J Soc Obstet Gynaecol Canada 20:1243-1272.
    • (1998) J Soc Obstet Gynaecol Canada , vol.20 , pp. 1243-1272
  • 361
    • 0036218666 scopus 로고    scopus 로고
    • RANK-L and RANK: T cells, bone loss, and mammalian evolution
    • Theill LE, Boyle WJ, Penninger JM. 2002. RANK-L and RANK: T cells, bone loss, and mammalian evolution. Annu Rev Immunol 20:795-823.
    • (2002) Annu Rev Immunol , vol.20 , pp. 795-823
    • Theill, L.E.1    Boyle, W.J.2    Penninger, J.M.3
  • 362
    • 0032242218 scopus 로고    scopus 로고
    • The genetic basis of normal and abnormal craniofacial development
    • Thesleff I. 1998. The genetic basis of normal and abnormal craniofacial development. Acta Odontol Scand 56:321-325.
    • (1998) Acta Odontol Scand , vol.56 , pp. 321-325
    • Thesleff, I.1
  • 363
    • 0038325685 scopus 로고    scopus 로고
    • Epithelial-mesenchymal signaling regulating tooth morphogenesis
    • Thesleff I. 2003. Epithelial-mesenchymal signaling regulating tooth morphogenesis. J Cell Sci 116:1647-1648.
    • (2003) J Cell Sci , vol.116 , pp. 1647-1648
    • Thesleff, I.1
  • 365
    • 0036264391 scopus 로고    scopus 로고
    • The role of growth factors in tooth development
    • Thesleff I, Mikkola M. 2002. The role of growth factors in tooth development. Int Rev Cytol 217:93-135.
    • (2002) Int Rev Cytol , vol.217 , pp. 93-135
    • Thesleff, I.1    Mikkola, M.2
  • 366
    • 0033036506 scopus 로고    scopus 로고
    • Molecular regulation of tooth development
    • Thesleff I, Åberg T. 1999. Molecular regulation of tooth development. Bone 25:123-125.
    • (1999) Bone , vol.25 , pp. 123-125
    • Thesleff, I.1    Åberg, T.2
  • 367
    • 0031836965 scopus 로고    scopus 로고
    • Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta
    • Thirunavukkarasu K, Mahajan M, McLarren KW, Stifani S, Karsenty G. 1998. Two domains unique to osteoblast-specific transcription factor Osf2/Cbfa1 contribute to its transactivation function and its inability to heterodimerize with Cbfbeta. Mol Cell Biol 18:4197-4208.
    • (1998) Mol Cell Biol , vol.18 , pp. 4197-4208
    • Thirunavukkarasu, K.1    Mahajan, M.2    McLarren, K.W.3    Stifani, S.4    Karsenty, G.5
  • 368
    • 0034682834 scopus 로고    scopus 로고
    • The osteoblast-specific transcription factor Cbfa1 regulates the expression of osteoprotegerin (OPG), a potent inhibitor of osteoclast differentiation and function
    • Thirunavukkarasu K, Halladay DL, Miles RR, Yang X, Galvin RJ, Chandrasekahar S, Martin TJ, Onyia JE. 2000. The osteoblast-specific transcription factor Cbfa1 regulates the expression of osteoprotegerin (OPG), a potent inhibitor of osteoclast differentiation and function. J Biol Chem 275:25163-25172.
    • (2000) J Biol Chem , vol.275 , pp. 25163-25172
    • Thirunavukkarasu, K.1    Halladay, D.L.2    Miles, R.R.3    Yang, X.4    Galvin, R.J.5    Chandrasekahar, S.6    Martin, T.J.7    Onyia, J.E.8
  • 372
    • 0032849244 scopus 로고    scopus 로고
    • Inhibition of osteoblast-specific transcription factor Cbfa1 by the cAMP pathway in osteoblastic cells. Ubiquitin/proteasome-dependent regulation
    • Tintut Y, Parhami F, Li V, Kasenty G, Demer LL. 1999. Inhibition of osteoblast-specific transcription factor Cbfa1 by the cAMP pathway in osteoblastic cells. Ubiquitin/proteasome-dependent regulation. J Biol Chem 274:28875-28879.
    • (1999) J Biol Chem , vol.274 , pp. 28875-28879
    • Tintut, Y.1    Parhami, F.2    Li, V.3    Kasenty, G.4    Demer, L.L.5
  • 373
    • 0013918341 scopus 로고
    • Canine bone sarcoma: Estimation of relative risk as a function of body size
    • Tjalma RA. 1966. Canine bone sarcoma: Estimation of relative risk as a function of body size. J Natl Cancer Inst 36:1137-1150.
    • (1966) J Natl Cancer Inst , vol.36 , pp. 1137-1150
    • Tjalma, R.A.1
  • 375
    • 0027369098 scopus 로고
    • Vertebral postmenopausal bone loss is reduced in overweight women: A longitudinal study in 155 early postmenopausal women
    • Trémollières FA, Pouilles JM, Ribot C. 1993. Vertebral postmenopausal bone loss is reduced in overweight women: A longitudinal study in 155 early postmenopausal women. J Clin Endocrinol Metab 77:683-686.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 683-686
    • Trémollières, F.A.1    Pouilles, J.M.2    Ribot, C.3
  • 378
    • 0031093601 scopus 로고    scopus 로고
    • Bone morphogenetic protein: The molecularization of skeletal system development
    • Urist MR. 1997. Bone morphogenetic protein: The molecularization of skeletal system development. J Bone Miner Res 12:343-346.
    • (1997) J Bone Miner Res , vol.12 , pp. 343-346
    • Urist, M.R.1
  • 379
    • 0034028899 scopus 로고    scopus 로고
    • MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
    • van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. 2000. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24:342-343.
    • (2000) Nat Genet , vol.24 , pp. 342-343
    • Van Den Boogaard, M.J.1    Dorland, M.2    Beemer, F.A.3    Van Amstel, H.K.4
  • 380
  • 384
    • 0034723715 scopus 로고    scopus 로고
    • Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
    • Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. 2000. Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia. Am J Med Genet 90:407-422.
    • (2000) Am J Med Genet , vol.90 , pp. 407-422
    • Verloes, A.1    Lesenfants, S.2    Barr, M.3    Grange, D.K.4    Journel, H.5    Lombet, J.6    Mortier, G.7    Roeder, E.8
  • 385
    • 0002812964 scopus 로고
    • Secondary cartilages in the facial skeleton of the rat
    • Vinkka H. 1982. Secondary cartilages in the facial skeleton of the rat. Proc Finnish Dent Soc 78(Suppl VII):5-137.
    • (1982) Proc Finnish Dent Soc , vol.78 , Issue.SUPPL. VII , pp. 5-137
    • Vinkka, H.1
  • 386
    • 0027352259 scopus 로고
    • Initiation of secondary cartilage in the mandible of the Syrian hamster in the absence of muscle function
    • Vinkka-Puhakka T, Thesleff I. 1993. Initiation of secondary cartilage in the mandible of the Syrian hamster in the absence of muscle function. Arch Oral Biol 38:49-59.
    • (1993) Arch Oral Biol , vol.38 , pp. 49-59
    • Vinkka-Puhakka, T.1    Thesleff, I.2
  • 387
    • 0029750190 scopus 로고    scopus 로고
    • Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein
    • 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 273:613-622.
    • (1996) Science , vol.273 , pp. 613-622
    • Vortkamp, A.1    Lee, K.2    Lanske, B.3    Segre, G.V.4    Kronenberg, H.M.5    Tabin, C.J.6
  • 389
    • 0023886444 scopus 로고
    • Latent transforming growth factor-beta from human platelets: A high molecular weight complex containing precursor sequences
    • Wakefield LM, Smith DM, Flanders KC, Sporn MD. 1988. Latent transforming growth factor-beta from human platelets: A high molecular weight complex containing precursor sequences. J Biol Chem 263:7646-7654.
    • (1988) J Biol Chem , vol.263 , pp. 7646-7654
    • Wakefield, L.M.1    Smith, D.M.2    Flanders, K.C.3    Sporn, M.D.4
  • 390
    • 4444342943 scopus 로고    scopus 로고
    • Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFβ1, and review
    • Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. 2004. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, identification of a mutation in TGFβ1, and review. Am J Med Genet Part A 129A:235-247.
    • (2004) Am J Med Genet Part A , vol.129 A , pp. 235-247
    • Wallace, S.E.1    Lachman, R.S.2    Mekikian, P.B.3    Bui, K.K.4    Wilcox, W.R.5
  • 391
    • 0028958081 scopus 로고
    • Ectoderm-mesenchyme and mesenchyme-mesenchyme interactions regulate Msx-1 expression and cellular differentiation in the murine limb bud
    • Wang Y, Sassoon D. 1995. Ectoderm-mesenchyme and mesenchyme-mesenchyme interactions regulate Msx-1 expression and cellular differentiation in the murine limb bud. Dev Biol 168:374-382.
    • (1995) Dev Biol , vol.168 , pp. 374-382
    • Wang, Y.1    Sassoon, D.2
  • 392
    • 0027263856 scopus 로고
    • Newly recognized autosomal dominant disorder with craniosynostosis
    • Warman ML, Mulliken JB, Hayward PG, Müller U. 1993. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 46:444-449.
    • (1993) Am J Med Genet , vol.46 , pp. 444-449
    • Warman, M.L.1    Mulliken, J.B.2    Hayward, P.G.3    Müller, U.4
  • 394
    • 0002838612 scopus 로고    scopus 로고
    • From genes to tissue in osteogenesis imperfecta: A long and winding road
    • Cohen MM, Jr., Baum BJ, editors. Amsterdam: IOS Press, Chap. 12
    • Wenstrup RJ. 1997. From genes to tissue in osteogenesis imperfecta: A long and winding road. In: Cohen MM, Jr., Baum BJ, editors. Studies in Stomatology and Craniofacial Biology. Amsterdam: IOS Press, Chap. 12, pp. 191-207.
    • (1997) Studies in Stomatology and Craniofacial Biology , pp. 191-207
    • Wenstrup, R.J.1
  • 395
    • 0025309893 scopus 로고
    • Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta
    • Wenstrup RJ, Willing MC, Starman BJ, Byers PH. 1990. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 46:975-982.
    • (1990) Am J Hum Genet , vol.46 , pp. 975-982
    • Wenstrup, R.J.1    Willing, M.C.2    Starman, B.J.3    Byers, P.H.4
  • 400
    • 0029885567 scopus 로고    scopus 로고
    • Craniosynostosis: Novel insights into pathogenesis and treatment
    • Wilkie AOM, Wall SA. 1996. Craniosynostosis: Novel insights into pathogenesis and treatment. Curr Opin Neurol 9:146-152.
    • (1996) Curr Opin Neurol , vol.9 , pp. 146-152
    • Wilkie, A.O.M.1    Wall, S.A.2
  • 403
    • 17844402791 scopus 로고    scopus 로고
    • Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
    • Wilkie AOM. 2005. Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev 16:187-203.
    • (2005) Cytokine Growth Factor Rev , vol.16 , pp. 187-203
    • Wilkie, A.O.M.1
  • 413
    • 15744375543 scopus 로고    scopus 로고
    • RhoA/ROCK signaling regulates Sox9 expression and actin organization during chondrogenesis
    • Woods A, Wang G, Beier F. 2005. RhoA/ROCK signaling regulates Sox9 expression and actin organization during chondrogenesis. J Biol Chem 280:11626-11634.
    • (2005) J Biol Chem , vol.280 , pp. 11626-11634
    • Woods, A.1    Wang, G.2    Beier, F.3
  • 415
    • 0035035010 scopus 로고    scopus 로고
    • Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction
    • Wysolmerski JJ, Cormier S, Philbrick WM, Dann P, Zhang JP, Roume J, Delezoide A-L, Silve C. 2001. Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. Clin Endocrinol Metab 86:1788-1794.
    • (2001) Clin Endocrinol Metab , vol.86 , pp. 1788-1794
    • Wysolmerski, J.J.1    Cormier, S.2    Philbrick, W.M.3    Dann, P.4    Zhang, J.P.5    Roume, J.6    Delezoide, A.-L.7    Silve, C.8
  • 416
    • 0037184027 scopus 로고    scopus 로고
    • Fibroblast growth factor 2 induction of the osteocalcin gene requires MAPK activity and phosphorylation of the osteoblast transcription factor. Cbfa1/Runx2
    • Xiao G, Jiang D, Gopalakrishnan R, Franceschi RT. 2002. Fibroblast growth factor 2 induction of the osteocalcin gene requires MAPK activity and phosphorylation of the osteoblast transcription factor. Cbfa1/Runx2. J Biol Chem 277:36181-36187.
    • (2002) J Biol Chem , vol.277 , pp. 36181-36187
    • Xiao, G.1    Jiang, D.2    Gopalakrishnan, R.3    Franceschi, R.T.4
  • 417
    • 0031973875 scopus 로고    scopus 로고
    • Mutational screening of the bone morphogenetic protein 4 gene in a family with fibrodysplasia ossificans progressiva
    • Xu M, Shore EM. 1998. Mutational screening of the bone morphogenetic protein 4 gene in a family with fibrodysplasia ossificans progressiva. Clin Orthop 346:53-58.
    • (1998) Clin Orthop , vol.346 , pp. 53-58
    • Xu, M.1    Shore, E.M.2
  • 419
    • 0023935971 scopus 로고
    • Malignant transformation of fibrous dysplasia; a case report and review of the literature
    • Yabut SM Jr, Kenan S, Sissons HA. 1988. Malignant transformation of fibrous dysplasia; A case report and review of the literature. Clin Orthop 228:281-288.
    • (1988) Clin Orthop , vol.228 , pp. 281-288
    • Yabut Jr., S.M.1    Kenan, S.2    Sissons, H.A.3
  • 420
    • 0032938813 scopus 로고    scopus 로고
    • A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo
    • Yamaguchi TP, Bradley A, McMahon AP, Jones S. 1999. A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Development 126:1211-1223.
    • (1999) Development , vol.126 , pp. 1211-1223
    • Yamaguchi, T.P.1    Bradley, A.2    McMahon, A.P.3    Jones, S.4
  • 426
    • 0027461508 scopus 로고
    • A lethal skeletal dysplasia with generalized sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
    • Young ID, Zuccollo JM, Broderick NJ. 1993. A lethal skeletal dysplasia with generalized sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J Med Genet 30:155-157.
    • (1993) J Med Genet , vol.30 , pp. 155-157
    • Young, I.D.1    Zuccollo, J.M.2    Broderick, N.J.3
  • 427
    • 0036683426 scopus 로고    scopus 로고
    • Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesis
    • Zeng L, Kempf H, Murtaugh LC, Sato ME, Lassar AB. 2002. Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesis. Genes Dev 16:1990-2005.
    • (2002) Genes Dev , vol.16 , pp. 1990-2005
    • Zeng, L.1    Kempf, H.2    Murtaugh, L.C.3    Sato, M.E.4    Lassar, A.B.5
  • 428
    • 1842539541 scopus 로고    scopus 로고
    • A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts
    • Zenker M, Rauch A, Winterpacht A, Tagariello A, Kraus C, Rupprecht T, Sticht H, Reis A. 2004. A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. Am J Hum Genet 74:731-737.
    • (2004) Am J Hum Genet , vol.74 , pp. 731-737
    • Zenker, M.1    Rauch, A.2    Winterpacht, A.3    Tagariello, A.4    Kraus, C.5    Rupprecht, T.6    Sticht, H.7    Reis, A.8
  • 429
    • 0028267099 scopus 로고
    • Structure and expression of flbrillin-2, a novel microfibrillar component preferentially located in elastic matrices
    • Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F. 1994. Structure and expression of flbrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol 124:855-863.
    • (1994) J Cell Biol , vol.124 , pp. 855-863
    • Zhang, H.1    Apfelroth, S.D.2    Hu, W.3    Davis, E.C.4    Sanguineti, C.5    Bonadio, J.6    Mecham, R.P.7    Ramirez, F.8
  • 430
    • 0031769483 scopus 로고    scopus 로고
    • A homozygous inactivating mutation in the parathyroid hormone/ parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
    • Zhang P, Jobert A-S, Couvineau A, Silve C. 1998. A homozygous inactivating mutation in the parathyroid hormone/ parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocr Metab 83:3365-3368.
    • (1998) J Clin Endocr Metab , vol.83 , pp. 3365-3368
    • Zhang, P.1    Jobert, A.-S.2    Couvineau, A.3    Silve, C.4
  • 431


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