메뉴 건너뛰기




Volumn 3, Issue 10, 2015, Pages 1137-1154

New therapeutic targets in rare genetic skeletal diseases

Author keywords

achondroplasia; cartilage; cell signalling; endoplasmic reticulum stress; genetic skeletal disease; multiple epiphyseal dysplasia; pseudoachondroplasia; skeletal dysplasia

Indexed keywords

BIOLOGICAL MARKER; MUTANT PROTEIN; STRUCTURAL PROTEIN;

EID: 84942521562     PISSN: None     EISSN: 21678707     Source Type: Journal    
DOI: 10.1517/21678707.2015.1083853     Document Type: Review
Times cited : (29)

References (127)
  • 1
    • 79955042501 scopus 로고    scopus 로고
    • Nosology and classification of genetic skeletal disorders: 2010 revision
    • Warman ML, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 2011; 155A (5): 943-68
    • (2011) Am J Med Genet A , vol.155 A , Issue.5 , pp. 943-968
    • Warman, M.L.1    Cormier-Daire, V.2    Hall, C.3
  • 2
    • 77953939261 scopus 로고    scopus 로고
    • The skeletal dysplasias
    • Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med 2010; 12 (6): 327-41
    • (2010) Genet Med , vol.12 , Issue.6 , pp. 327-341
    • Krakow, D.1    Rimoin, D.L.2
  • 3
    • 77957739499 scopus 로고    scopus 로고
    • Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias
    • Yasoda A, Nakao K. Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias. Endocr J 2011; 57 (8): 659-66
    • (2011) Endocr J , vol.57 , Issue.8 , pp. 659-666
    • Yasoda, A.1    Nakao, K.2
  • 4
    • 0033784788 scopus 로고    scopus 로고
    • Bisphosphonate therapy for severe osteogenesis imperfecta
    • Glorieux FH. Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab 2000; 13 Suppl 2: 989-92
    • (2000) J Pediatr Endocrinol Metab , vol.132 SUPPL , pp. 989-992
    • Glorieux, F.H.1
  • 5
    • 43249121600 scopus 로고    scopus 로고
    • Bisphosphonate treatment in craniofacial fibrous dysplasia - A case report and review of the literature
    • Makitie AA, Tornwall J, Makitie O. Bisphosphonate treatment in craniofacial fibrous dysplasia - a case report and review of the literature. Clin Rheumatol 2008; 27 (6): 809-12
    • (2008) Clin Rheumatol , vol.27 , Issue.6 , pp. 809-812
    • Makitie, A.A.1    Tornwall, J.2    Makitie, O.3
  • 7
    • 33749443746 scopus 로고    scopus 로고
    • Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide
    • Corbacioglu S, Honig M, Lahr G, et al. Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide. Bone Marrow Transplant 2006; 38 (8): 547-53
    • (2006) Bone Marrow Transplant , vol.38 , Issue.8 , pp. 547-553
    • Corbacioglu, S.1    Honig, M.2    Lahr, G.3
  • 8
    • 84928390200 scopus 로고    scopus 로고
    • The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review)
    • Briggs MD, Bell PA, Pirog KA. The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: The emerging role of endoplasmic reticulum stress (Review). Int J Mol Med 2015; 35 (6): 1483-92
    • (2015) Int J Mol Med , vol.35 , Issue.6 , pp. 1483-1492
    • Briggs, M.D.1    Bell, P.A.2    Pirog, K.A.3
  • 9
    • 72449160579 scopus 로고    scopus 로고
    • The unfolded protein response and its relevance to connective tissue diseases
    • Boot-Handford RP, Briggs MD. The unfolded protein response and its relevance to connective tissue diseases. Cell Tissue Res 2009; 339 (1): 197-211
    • (2009) Cell Tissue Res , vol.339 , Issue.1 , pp. 197-211
    • Boot-Handford, R.P.1    Briggs, M.D.2
  • 10
    • 77954354827 scopus 로고    scopus 로고
    • In vivo cellular adaptation to ER stress: Survival strategies with double-edged consequences
    • Tsang KY, Chan D, Bateman JF, Cheah KS. In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences. J Cell Sci 2010; 123 (Pt 13): 2145-54
    • (2010) J Cell Sci , vol.123 , pp. 2145-2154
    • Tsang, K.Y.1    Chan, D.2    Bateman, J.F.3    Cheah, K.S.4
  • 11
    • 84922059171 scopus 로고    scopus 로고
    • A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis
    • Yang RC, Chen MH, Chen PY, et al. A mutation of the Col2a1 gene (G1170S) alters the transgenic murine phenotype and cartilage matrix homeostasis. J Formos Med Assoc 2014; 113 (11): 803-12
    • (2014) J Formos Med Assoc , vol.113 , Issue.11 , pp. 803-812
    • Yang, R.C.1    Chen, M.H.2    Chen, P.Y.3
  • 12
    • 84900331094 scopus 로고    scopus 로고
    • Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model
    • Liang G, Lian C, Huang D, et al. Endoplasmic reticulum stress-unfolding protein response-apoptosis cascade causes chondrodysplasia in a col2a1 p.Gly1170Ser mutated mouse model. PLoS One 2014; 9 (1): e86894
    • (2014) PLoS One , vol.9 , Issue.1 , pp. e86894
    • Liang, G.1    Lian, C.2    Huang, D.3
  • 13
    • 84922478971 scopus 로고    scopus 로고
    • Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells
    • Okada M, Ikegawa S, Morioka M, et al. Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells. Hum Mol Genet 2015; 24 (2): 299-313
    • (2015) Hum Mol Genet , vol.24 , Issue.2 , pp. 299-313
    • Okada, M.1    Ikegawa, S.2    Morioka, M.3
  • 14
    • 84874438608 scopus 로고    scopus 로고
    • Role of endoplasmic reticulum stress in diabetic neuropathy
    • Cameron NE. Role of endoplasmic reticulum stress in diabetic neuropathy. Diabetes 2013; 62 (3): 696-7
    • (2013) Diabetes , vol.62 , Issue.3 , pp. 696-697
    • Cameron, N.E.1
  • 15
    • 77649239734 scopus 로고    scopus 로고
    • Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin
    • Gong B, Zhang LY, Pang CP, et al. Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin. Mol Vis 2009; 15: 2829-40
    • (2009) Mol Vis , vol.15 , pp. 2829-2840
    • Gong, B.1    Zhang, L.Y.2    Pang, C.P.3
  • 16
    • 73349112261 scopus 로고    scopus 로고
    • Targeted induction of endoplasmic reticulum stress induces cartilage pathology
    • Rajpar MH, McDermott B, Kung L, et al. Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet 2009; 5 (10): e1000691
    • (2009) PLoS Genet , vol.5 , Issue.10 , pp. e1000691
    • Rajpar, M.H.1    McDermott, B.2    Kung, L.3
  • 17
    • 34547789362 scopus 로고    scopus 로고
    • Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation
    • Leighton MP, Nundlall S, Starborg T, et al. Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation. Hum Mol Genet 2007; 16 (14): 1728-41
    • (2007) Hum Mol Genet , vol.16 , Issue.14 , pp. 1728-1741
    • Leighton, M.P.1    Nundlall, S.2    Starborg, T.3
  • 18
    • 84857686755 scopus 로고    scopus 로고
    • A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia
    • Suleman F, Gualeni B, Gregson HJ, et al. A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. Hum Mutat 2012; 33 (1): 218-31
    • (2012) Hum Mutat , vol.33 , Issue.1 , pp. 218-231
    • Suleman, F.1    Gualeni, B.2    Gregson, H.J.3
  • 19
    • 34548453097 scopus 로고    scopus 로고
    • Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    • Pirog-Garcia KA, Meadows RS, Knowles L, et al. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Hum Mol Genet 2007; 16 (17): 2072-88
    • (2007) Hum Mol Genet , vol.16 , Issue.17 , pp. 2072-2088
    • Pirog-Garcia, K.A.1    Meadows, R.S.2    Knowles, L.3
  • 20
    • 84908270157 scopus 로고    scopus 로고
    • Pseudoachondroplasia/COMP - Translating from the bench to the bedside
    • Posey KL, Alcorn JL, Hecht JT. Pseudoachondroplasia/COMP-translating from the bench to the bedside. Matrix Biol 2014; 37: 167-73
    • (2014) Matrix Biol , vol.37 , pp. 167-173
    • Posey, K.L.1    Alcorn, J.L.2    Hecht, J.T.3
  • 21
    • 80052842907 scopus 로고    scopus 로고
    • Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy
    • Cameron TL, Bell KM, Tatarczuch L, et al. Transcriptional profiling of chondrodysplasia growth plate cartilage reveals adaptive ER-stress networks that allow survival but disrupt hypertrophy. PLoS ONE 2011; 6 (9): e24600
    • (2011) PLoS ONE , vol.6 , Issue.9 , pp. e24600
    • Cameron, T.L.1    Bell, K.M.2    Tatarczuch, L.3
  • 22
    • 78149468680 scopus 로고    scopus 로고
    • An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia
    • Nundlall S, Rajpar MH, Bell PA, et al. An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia. Cell Stress Chaperones 2010; 15 (6): 835-49
    • (2010) Cell Stress Chaperones , vol.15 , Issue.6 , pp. 835-849
    • Nundlall, S.1    Rajpar, M.H.2    Bell, P.A.3
  • 23
    • 84888798060 scopus 로고    scopus 로고
    • Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: Implications for genetic skeletal diseases
    • Hartley CL, Edwards S, Mullan L, et al. Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases. Hum Mol Genet 2013; 22 (25): 5262-75
    • (2013) Hum Mol Genet , vol.22 , Issue.25 , pp. 5262-5275
    • Hartley, C.L.1    Edwards, S.2    Mullan, L.3
  • 24
    • 84937164111 scopus 로고    scopus 로고
    • R stress during the pubertal growth spurt results in impaired long bone growth in chondrocyte-specific ERp57 knockout mice
    • Linz A, Knieper Y, Gronau T, et al. R stress during the pubertal growth spurt results in impaired long bone growth in chondrocyte-specific ERp57 knockout mice. J Bone Miner Res 2015; 30 (8): 1481-93
    • (2015) J Bone Miner Res , vol.30 , Issue.8 , pp. 1481-1493
    • Linz, A.1    Knieper, Y.2    Gronau, T.3
  • 25
    • 84924855824 scopus 로고    scopus 로고
    • Cartilage-specific ablation of XBP1 signaling in mouse results in a chondrodysplasia characterized by reduced chondrocyte proliferation and delayed cartilage maturation and mineralization
    • Cameron TL, Gresshoff IL, Bell KM, et al. Cartilage-specific ablation of XBP1 signaling in mouse results in a chondrodysplasia characterized by reduced chondrocyte proliferation and delayed cartilage maturation and mineralization. Osteoarthritis Cartilage 2015; 23 (4): 661-70
    • (2015) Osteoarthritis Cartilage , vol.23 , Issue.4 , pp. 661-670
    • Cameron, T.L.1    Gresshoff, I.L.2    Bell, K.M.3
  • 26
    • 84855995544 scopus 로고    scopus 로고
    • Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia
    • Posey KL, Coustry F, Veerisetty AC, et al. Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. Am J Pathol 2012; 180 (2): 727-37
    • (2012) Am J Pathol , vol.180 , Issue.2 , pp. 727-737
    • Posey, K.L.1    Coustry, F.2    Veerisetty, A.C.3
  • 27
    • 84856002853 scopus 로고    scopus 로고
    • D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis
    • Coustry F, Posey KL, Liu P, et al. D469del-COMP retention in chondrocytes stimulates caspase-independent necroptosis. Am J Pathol 2012; 180 (2): 738-48
    • (2012) Am J Pathol , vol.180 , Issue.2 , pp. 738-748
    • Coustry, F.1    Posey, K.L.2    Liu, P.3
  • 28
    • 84936773256 scopus 로고    scopus 로고
    • Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia
    • Posey KL, Coustry F, Veerisetty AC, et al. Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. Hum Mol Genet 2015; 24 (14): 3918-28
    • (2015) Hum Mol Genet , vol.24 , Issue.14 , pp. 3918-3928
    • Posey, K.L.1    Coustry, F.2    Veerisetty, A.C.3
  • 29
    • 84899080287 scopus 로고    scopus 로고
    • Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia
    • Posey KL, Coustry F, Veerisetty AC, et al. Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res 2014; 29 (5): 1258-68
    • (2014) J Bone Miner Res , vol.29 , Issue.5 , pp. 1258-1268
    • Posey, K.L.1    Coustry, F.2    Veerisetty, A.C.3
  • 30
    • 77953514278 scopus 로고    scopus 로고
    • Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients
    • Ali BR, Xu H, Akawi NA, et al. Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients. Hum Mol Genet 2010; 19 (11): 2239-50
    • (2010) Hum Mol Genet , vol.19 , Issue.11 , pp. 2239-2250
    • Ali, B.R.1    Xu, H.2    Akawi, N.A.3
  • 31
    • 0034988084 scopus 로고    scopus 로고
    • The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism
    • Labrador JP, Azcoitia V, Tuckermann J, et al. The collagen receptor DDR2 regulates proliferation and its elimination leads to dwarfism. EMBO Rep 2001; 2 (5): 446-52
    • (2001) EMBO Rep , vol.2 , Issue.5 , pp. 446-452
    • Labrador, J.P.1    Azcoitia, V.2    Tuckermann, J.3
  • 32
    • 84867873768 scopus 로고    scopus 로고
    • Discoidin domain receptor 2 (DDR2) regulates proliferation of endochondral cells in mice
    • Kawai I, Hisaki T, Sugiura K, et al. Discoidin domain receptor 2 (DDR2) regulates proliferation of endochondral cells in mice. Biochem Biophys Res Commun 2012; 427 (3): 611-17
    • (2012) Biochem Biophys Res Commun , vol.427 , Issue.3 , pp. 611-617
    • Kawai, I.1    Hisaki, T.2    Sugiura, K.3
  • 33
    • 0034981299 scopus 로고    scopus 로고
    • A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
    • Tiller GE, Hannig VL, Dozier D, et al. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet 2001; 68 (6): 1398-407
    • (2001) Am J Hum Genet , vol.68 , Issue.6 , pp. 1398-1407
    • Tiller, G.E.1    Hannig, V.L.2    Dozier, D.3
  • 34
    • 84866759304 scopus 로고    scopus 로고
    • Sedlin controls the ER export of procollagen by regulating the Sar1 cycle
    • Venditti R, Scanu T, Santoro M, et al. Sedlin controls the ER export of procollagen by regulating the Sar1 cycle. Science 2012; 337 (6102): 1668-72
    • (2012) Science , vol.337 , Issue.6102 , pp. 1668-1672
    • Venditti, R.1    Scanu, T.2    Santoro, M.3
  • 35
    • 70350109531 scopus 로고    scopus 로고
    • Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda
    • Choi MY, Chan CC, Chan D, et al. Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda. Biochem J 2009; 423 (2): 233-42
    • (2009) Biochem J , vol.423 , Issue.2 , pp. 233-242
    • Choi, M.Y.1    Chan, C.C.2    Chan, D.3
  • 36
    • 33749128067 scopus 로고    scopus 로고
    • Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    • Boyadjiev SA, Fromme JC, Ben J, et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. Nat Genet 2006; 38 (10): 1192-7
    • (2006) Nat Genet , vol.38 , Issue.10 , pp. 1192-1197
    • Boyadjiev, S.A.1    Fromme, J.C.2    Ben, J.3
  • 37
    • 33749151608 scopus 로고    scopus 로고
    • Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation
    • Lang MR, Lapierre LA, Frotscher M, et al. Secretory COPII coat component Sec23a is essential for craniofacial chondrocyte maturation. Nat Genet 2006; 38 (10): 1198-203
    • (2006) Nat Genet , vol.38 , Issue.10 , pp. 1198-1203
    • Lang, M.R.1    Lapierre, L.A.2    Frotscher, M.3
  • 38
    • 77956413317 scopus 로고    scopus 로고
    • Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis
    • Sarmah S, Barrallo-Gimeno A, Melville DB, et al. Sec24D-dependent transport of extracellular matrix proteins is required for zebrafish skeletal morphogenesis. PLoS ONE 2010; 5 (4): e10367
    • (2010) PLoS ONE , vol.5 , Issue.4 , pp. e10367
    • Sarmah, S.1    Barrallo-Gimeno, A.2    Melville, D.B.3
  • 39
    • 74849098404 scopus 로고    scopus 로고
    • Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210
    • Smits P, Bolton AD, Funari V, et al. Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med 2010; 362 (3): 206-16
    • (2010) N Engl J Med , vol.362 , Issue.3 , pp. 206-216
    • Smits, P.1    Bolton, A.D.2    Funari, V.3
  • 40
    • 84921662373 scopus 로고    scopus 로고
    • Modulation of the secretory pathway rescues zebrafish polycystic kidney disease pathology
    • Le Corre S, Eyre D, Drummond IA. Modulation of the secretory pathway rescues zebrafish polycystic kidney disease pathology. J Am Soc Nephrol 2014; 25 (8): 1749-59
    • (2014) J Am Soc Nephrol , vol.25 , Issue.8 , pp. 1749-1759
    • Le Corre, S.1    Eyre, D.2    Drummond, I.A.3
  • 41
    • 60349120776 scopus 로고    scopus 로고
    • Genetic diseases of connective tissues: Cellular and extracellular effects of ECM mutations
    • Bateman JF, Boot-Handford RP, Lamande SR. Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations. Nat Rev Genet 2009; 10 (3): 173-83
    • (2009) Nat Rev Genet , vol.10 , Issue.3 , pp. 173-183
    • Bateman, J.F.1    Boot-Handford, R.P.2    Lamande, S.R.3
  • 42
    • 84903545868 scopus 로고    scopus 로고
    • Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke
    • Murray LS, Lu Y, Taggart A, et al. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke. Hum Mol Genet 2014; 23 (2): 283-92
    • (2014) Hum Mol Genet , vol.23 , Issue.2 , pp. 283-292
    • Murray, L.S.1    Lu, Y.2    Taggart, A.3
  • 43
    • 84874383426 scopus 로고    scopus 로고
    • Alteration of proteoglycan sulfation affects bone growth and remodeling
    • Gualeni B, de Vernejoul MC, Marty-Morieux C, et al. Alteration of proteoglycan sulfation affects bone growth and remodeling. Bone 2013; 54 (1): 83-91
    • (2013) Bone , vol.54 , Issue.1 , pp. 83-91
    • Gualeni, B.1    De Vernejoul, M.C.2    Marty-Morieux, C.3
  • 44
    • 68149156574 scopus 로고    scopus 로고
    • Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
    • Furuichi T, Kayserili H, Hiraoka S, et al. Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet 2009; 46 (8): 562-8
    • (2009) J Med Genet , vol.46 , Issue.8 , pp. 562-568
    • Furuichi, T.1    Kayserili, H.2    Hiraoka, S.3
  • 45
    • 0036264997 scopus 로고    scopus 로고
    • Cartilage oligomeric matrix protein-deficient mice have normal skeletal development
    • Svensson L, Aszodi A, Heinegard D, et al. Cartilage oligomeric matrix protein-deficient mice have normal skeletal development. Mol Cell Biol 2002; 22 (12): 4366-71
    • (2002) Mol Cell Biol , vol.22 , Issue.12 , pp. 4366-4371
    • Svensson, L.1    Aszodi, A.2    Heinegard, D.3
  • 46
    • 0842282537 scopus 로고    scopus 로고
    • Matrilin-3 is dispensable for mouse skeletal growth and development
    • Ko Y, Kobbe B, Nicolae C, et al. Matrilin-3 is dispensable for mouse skeletal growth and development. Mol Cell Biol 2004; 24 (4): 1691-9
    • (2004) Mol Cell Biol , vol.24 , Issue.4 , pp. 1691-1699
    • Ko, Y.1    Kobbe, B.2    Nicolae, C.3
  • 47
    • 0033922216 scopus 로고    scopus 로고
    • Mammalian skeletogenesis and extracellular matrix: What can we learn from knockout mice?
    • Aszodi A, Bateman JF, Gustafsson E, et al. Mammalian skeletogenesis and extracellular matrix: what can we learn from knockout mice? Cell Struct Funct 2000; 25 (2): 73-84
    • (2000) Cell Struct Funct , vol.25 , Issue.2 , pp. 73-84
    • Aszodi, A.1    Bateman, J.F.2    Gustafsson, E.3
  • 48
    • 0030610082 scopus 로고    scopus 로고
    • Absence of the alpha1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice
    • Hagg R, Hedbom E, Mollers U, et al. Absence of the alpha1(IX) chain leads to a functional knock-out of the entire collagen IX protein in mice. J Biol Chem 1997; 272 (33): 20650-4
    • (1997) J Biol Chem , vol.272 , Issue.33 , pp. 20650-20654
    • Hagg, R.1    Hedbom, E.2    Mollers, U.3
  • 49
    • 66449124597 scopus 로고    scopus 로고
    • Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function
    • Allen JM, Zamurs L, Brachvogel B, et al. Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function. J Biol Chem 2009; 284 (18): 12020-30
    • (2009) J Biol Chem , vol.284 , Issue.18 , pp. 12020-12030
    • Allen, J.M.1    Zamurs, L.2    Brachvogel, B.3
  • 50
    • 84884893622 scopus 로고    scopus 로고
    • Skeletal diseases caused by mutations that affect collagen structure and function
    • Arnold WV, Fertala A. Skeletal diseases caused by mutations that affect collagen structure and function. Int J Biochem Cell Biol 2013; 45 (8): 1556-67
    • (2013) Int J Biochem Cell Biol , vol.45 , Issue.8 , pp. 1556-1567
    • Arnold, W.V.1    Fertala, A.2
  • 51
    • 77956410650 scopus 로고    scopus 로고
    • Ai reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein
    • Posey KL, Liu P, Wang HR, et al. Ai reduces expression and intracellular retention of mutant cartilage oligomeric matrix protein. PLoS ONE 2010; 5 (4): e10302
    • (2010) PLoS ONE , vol.5 , Issue.4 , pp. e10302
    • Posey, K.L.1    Liu, P.2    Wang, H.R.3
  • 53
    • 42249090375 scopus 로고    scopus 로고
    • The solitary (primary) cilium-A mechanosensory toggle switch in bone and cartilage cells
    • Whitfield JF. The solitary (primary) cilium-A mechanosensory toggle switch in bone and cartilage cells. Cell Signal 2008; 20: 1019-24.
    • (2008) Cell Signal , vol.20 , pp. 1019-1024
    • Whitfield, J.F.1
  • 54
    • 33748089680 scopus 로고    scopus 로고
    • Localization of extracellular matrix receptors on the chondrocyte primary cilium
    • McGlashan SR, Jensen CG, Poole AC. Localization of extracellular matrix receptors on the chondrocyte primary cilium. J Histochem Cytochem 2006; 54: 1005-14.
    • (2006) J Histochem Cytochem , vol.54 , pp. 1005-1014
    • McGlashan, S.R.1    Jensen, C.G.2    Poole, A.C.3
  • 55
    • 49449108407 scopus 로고    scopus 로고
    • Primary cilia in osteoarthritic chondrocytes: From chondrons to clusters
    • McGlashan S, Cluett E, Jensen C, Poole C. Primary cilia in osteoarthritic chondrocytes: from chondrons to clusters. Dev Dyn 2008; 237: 2013-20.
    • (2008) Dev Dyn , vol.237 , pp. 2013-2020
    • McGlashan, S.1    Cluett, E.2    Jensen, C.3    Poole, C.4
  • 56
    • 77954150125 scopus 로고    scopus 로고
    • Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma
    • de Andrea C, Wiweger M, Prins F, Bovee J, Romeo S, Hogendoorn P. Primary cilia organization reflects polarity in the growth plate and implies loss of polarity and mosaicism in osteochondroma. Labor Invest 2010; 90: 1091-101.
    • (2010) Labor Invest , vol.90 , pp. 1091-1101
    • De Andrea, C.1    Wiweger, M.2    Prins, F.3    Bovee, J.4    Romeo, S.5    Hogendoorn, P.6
  • 57
    • 34548453097 scopus 로고    scopus 로고
    • Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP
    • Pirog-Garcia KA, Meadows RS, Knowles L, et al. Reduced cell proliferation and increased apoptosis are significant pathological mechanisms in a murine model of mild pseudoachondroplasia resulting from a mutation in the C-terminal domain of COMP. Human Mol Genet 2007; 16: 2072-88.
    • (2007) Human Mol Genet , vol.16 , pp. 2072-2088
    • Pirog-Garcia, K.A.1    Meadows, R.S.2    Knowles, L.3
  • 58
    • 36048978416 scopus 로고    scopus 로고
    • Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
    • Hiraoka S, Furuichi T, Nishimura G, et al. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med 2007; 13: 1363-7.
    • (2007) Nat Med , vol.13 , pp. 1363-1367
    • Hiraoka, S.1    Furuichi, T.2    Nishimura, G.3
  • 59
    • 84902358461 scopus 로고    scopus 로고
    • Deficiency in perlecan/HSPG2 during bone development enhances osteogenesis and decreases quality of adult bone in mice
    • Lowe DA, Lepori-Bui N, Fomin PV, et al. Deficiency in perlecan/HSPG2 during bone development enhances osteogenesis and decreases quality of adult bone in mice. Calcified Tissue Int 2014; 95: 29-38.
    • (2014) Calcified Tissue Int , vol.95 , pp. 29-38
    • Lowe, D.A.1    Lepori-Bui, N.2    Fomin, P.V.3
  • 60
    • 84918830147 scopus 로고    scopus 로고
    • Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II
    • Arita M, Fertala J, Hou C, et al. Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II. Am J Pathol 2015; 185: 214-29.
    • (2015) Am J Pathol , vol.185 , pp. 214-229
    • Arita, M.1    Fertala, J.2    Hou, C.3
  • 61
    • 20144364743 scopus 로고    scopus 로고
    • A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: Morphological and biochemical characterization of the resulting chondrodysplasia phenotype
    • Forlino A, Piazza R, Tiveron C, et al. A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Human Mol Genet 2005; 14: 859-71.
    • (2005) Human Mol Genet , vol.14 , pp. 859-871
    • Forlino, A.1    Piazza, R.2    Tiveron, C.3
  • 62
    • 17044396261 scopus 로고    scopus 로고
    • Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes
    • Bengtsson T, Aszódi A, Nicolae C, et al. Loss of alpha10beta1 integrin expression leads to moderate dysfunction of growth plate chondrocytes. J Cell Sci 2005; 118: 929-36.
    • (2005) J Cell Sci , vol.118 , pp. 929-936
    • Bengtsson, T.1    Aszódi, A.2    Nicolae, C.3
  • 63
    • 0141483387 scopus 로고    scopus 로고
    • Beta1 integrins regulate chondrocyte rotation, G1 progression, and cytokinesis
    • Aszódi A, Hunziker E, Brakebusch C, Faessler R. Beta1 integrins regulate chondrocyte rotation, G1 progression, and cytokinesis. Genes Dev 2003; 17: 2465-79.
    • (2003) Genes Dev , vol.17 , pp. 2465-2479
    • Aszódi, A.1    Hunziker, E.2    Brakebusch, C.3    Faessler, R.4
  • 64
    • 84884567163 scopus 로고    scopus 로고
    • Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10
    • Kyostila K, Lappalainen AK, Lohi H. Canine chondrodysplasia caused by a truncating mutation in collagen-binding integrin alpha subunit 10. PLoS One 2013; 8: e75621.
    • (2013) PLoS One , vol.8 , pp. e75621
    • Kyostila, K.1    Lappalainen, A.K.2    Lohi, H.3
  • 65
    • 84921490479 scopus 로고    scopus 로고
    • Vedolizumab: An alpha4beta7 integrin inhibitor for inflammatory bowel diseases
    • Smith MA, Mohammad RA. Vedolizumab: an alpha4beta7 integrin inhibitor for inflammatory bowel diseases. Ann Pharmacother 2014; 48 (12): 1629-35.
    • (2014) Ann Pharmacother , vol.48 , Issue.12 , pp. 1629-1635
    • Smith, M.A.1    Mohammad, R.A.2
  • 66
    • 84897951477 scopus 로고    scopus 로고
    • Reagents for developmental regulation of Hedgehog signaling
    • Lewis C, Krieg PA. Reagents for developmental regulation of Hedgehog signaling. Methods 2014; 66 (3): 390-7.
    • (2014) Methods , vol.66 , Issue.3 , pp. 390-397
    • Lewis, C.1    Krieg, P.A.2
  • 67
    • 0030025791 scopus 로고    scopus 로고
    • Dynamic interactions of the extracellular matrix
    • Slater M. Dynamic interactions of the extracellular matrix. Histol Histopathol 1996; 11 (1): 175-80.
    • (1996) Histol Histopathol , vol.11 , Issue.1 , pp. 175-180
    • Slater, M.1
  • 68
    • 77956472772 scopus 로고    scopus 로고
    • Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling
    • Gualeni B, Facchini M, De Leonardis F, et al. Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. Mat Biol 2010; 29 (6): 453-60.
    • (2010) Mat Biol , vol.29 , Issue.6 , pp. 453-460
    • Gualeni, B.1    Facchini, M.2    De Leonardis, F.3
  • 69
    • 17744417389 scopus 로고    scopus 로고
    • Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation
    • Barbieri O, Astigiano S, Morini M, et al. Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation. Am J Physiol Cell Physiol 2003; 285 (6): C1504-12.
    • (2003) Am J Physiol Cell Physiol , vol.285 , Issue.6 , pp. C1504-C1512
    • Barbieri, O.1    Astigiano, S.2    Morini, M.3
  • 70
    • 84929628866 scopus 로고    scopus 로고
    • Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: A case series
    • Kosnik-Infinger L, Gendron C, Gordon CB, et al. Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus 2015; 38 (5): E10
    • (2015) Neurosurg Focus , vol.38 , Issue.5 , pp. E10
    • Kosnik-Infinger, L.1    Gendron, C.2    Gordon, C.B.3
  • 71
    • 84899480369 scopus 로고    scopus 로고
    • Enzyme replacement therapy for hypophosphatasia
    • Ozono K. [Enzyme replacement therapy for hypophosphatasia]. Clin Calcium 2014; 24 (2): 257-63
    • (2014) Clin Calcium , vol.24 , Issue.2 , pp. 257-263
    • Ozono, K.1
  • 72
    • 84907655164 scopus 로고    scopus 로고
    • Asfotase-alpha improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1
    • de la Croix Ndong J, Makowski AJ, Uppuganti S, et al. Asfotase-alpha improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1. Nat Med 2014; 20 (8): 904-10
    • (2014) Nat Med , vol.20 , Issue.8 , pp. 904-910
    • De La Croix Ndong, J.1    Makowski, A.J.2    Uppuganti, S.3
  • 73
    • 19944430581 scopus 로고    scopus 로고
    • Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation
    • White KE, Cabral JM, Davis SI, et al. Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. Am J Hum Genet 2005; 76 (2): 361-7
    • (2005) Am J Hum Genet , vol.76 , Issue.2 , pp. 361-367
    • White, K.E.1    Cabral, J.M.2    Davis, S.I.3
  • 74
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995; 9 (2): 165-72
    • (1995) Nat Genet , vol.9 , Issue.2 , pp. 165-172
    • Wilkie, A.O.1    Slaney, S.F.2    Oldridge, M.3
  • 75
    • 0027981524 scopus 로고
    • Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
    • Reardon W, Winter RM, Rutland P, et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994; 8 (1): 98-103
    • (1994) Nat Genet , vol.8 , Issue.1 , pp. 98-103
    • Reardon, W.1    Winter, R.M.2    Rutland, P.3
  • 76
    • 0028583142 scopus 로고
    • Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity
    • Robin NH, Feldman GJ, Mitchell HF, et al. Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity. Hum Mol Genet 1994; 3 (12): 2153-8
    • (1994) Hum Mol Genet , vol.3 , Issue.12 , pp. 2153-2158
    • Robin, N.H.1    Feldman, G.J.2    Mitchell, H.F.3
  • 77
    • 15844388219 scopus 로고    scopus 로고
    • Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome
    • Przylepa KA, Paznekas W, Zhang M, et al. Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet 1996; 13 (4): 492-4
    • (1996) Nat Genet , vol.13 , Issue.4 , pp. 492-494
    • Przylepa, K.A.1    Paznekas, W.2    Zhang, M.3
  • 78
    • 16944367030 scopus 로고    scopus 로고
    • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
    • Muenke M, Gripp KW, McDonald-McGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997; 60 (3): 555-64
    • (1997) Am J Hum Genet , vol.60 , Issue.3 , pp. 555-564
    • Muenke, M.1    Gripp, K.W.2    McDonald-McGinn, D.M.3
  • 79
    • 0029935895 scopus 로고    scopus 로고
    • Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
    • Naski MC, Wang Q, Xu J, Ornitz DM. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nat Genet 1996; 13 (2): 233-7
    • (1996) Nat Genet , vol.13 , Issue.2 , pp. 233-237
    • Naski, M.C.1    Wang, Q.2    Xu, J.3    Ornitz, D.M.4
  • 80
    • 3242718379 scopus 로고    scopus 로고
    • A form of Jansens metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation
    • Bastepe M, Raas-Rothschild A, Silver J, et al. A form of Jansens metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab 2004; 89 (7): 3595-600
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.7 , pp. 3595-3600
    • Bastepe, M.1    Raas-Rothschild, A.2    Silver, J.3
  • 81
    • 0026003074 scopus 로고
    • Activating mutations of the stimulatory G protein in the McCune-Albright syndrome
    • Weinstein LS, Shenker A, Gejman PV, et al. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med 1991; 325 (24): 1688-95
    • (1991) N Engl J Med , vol.325 , Issue.24 , pp. 1688-1695
    • Weinstein, L.S.1    Shenker, A.2    Gejman, P.V.3
  • 82
    • 48349103354 scopus 로고    scopus 로고
    • Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
    • Rock MJ, Prenen J, Funari VA, et al. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet 2008; 40 (8): 999-1003
    • (2008) Nat Genet , vol.40 , Issue.8 , pp. 999-1003
    • Rock, M.J.1    Prenen, J.2    Funari, V.A.3
  • 83
    • 0031808508 scopus 로고    scopus 로고
    • Coupling of the PTH/PTHrP receptor to multiple G-proteins. Direct demonstration of receptor activation of Gs, Gq/11, and Gi(1) by [alpha-32P]GTP-gamma-azidoanilide photoaffinity labeling
    • Schwindinger WF, Fredericks J, Watkins L, et al. Coupling of the PTH/PTHrP receptor to multiple G-proteins. Direct demonstration of receptor activation of Gs, Gq/11, and Gi(1) by [alpha-32P]GTP-gamma-azidoanilide photoaffinity labeling. Endocrine 1998; 8 (2): 201-9
    • (1998) Endocrine , vol.8 , Issue.2 , pp. 201-209
    • Schwindinger, W.F.1    Fredericks, J.2    Watkins, L.3
  • 84
    • 84055181339 scopus 로고    scopus 로고
    • Wnt/beta-catenin signaling is differentially regulated by Galpha proteins and contributes to fibrous dysplasia
    • Regard JB, Cherman N, Palmer D, et al. Wnt/beta-catenin signaling is differentially regulated by Galpha proteins and contributes to fibrous dysplasia. Proc Natl Acad Sci U S A 2011; 108 (50): 20101-6
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.50 , pp. 20101-20106
    • Regard, J.B.1    Cherman, N.2    Palmer, D.3
  • 85
    • 84901838409 scopus 로고    scopus 로고
    • Follistatin in chondrocytes: The link between TRPV4 channelopathies and skeletal malformations
    • Leddy HA, McNulty AL, Lee SH, et al. Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations. FASEB J 2014; 28 (6): 2525-37
    • (2014) FASEB J , vol.28 , Issue.6 , pp. 2525-2537
    • Leddy, H.A.1    McNulty, A.L.2    Lee, S.H.3
  • 86
    • 84902535531 scopus 로고    scopus 로고
    • Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFbeta1
    • Saitta B, Passarini J, Sareen D, et al. Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFbeta1. Stem Cells Dev 2014; 23 (13): 1464-78
    • (2014) Stem Cells Dev , vol.23 , Issue.13 , pp. 1464-1478
    • Saitta, B.1    Passarini, J.2    Sareen, D.3
  • 87
    • 84896710829 scopus 로고    scopus 로고
    • From mysteries to medicines: Drug development for fibrodysplasia ossificans progressive
    • Kaplan FS, Pignolo RJ, Shore EM. From mysteries to medicines: drug development for fibrodysplasia ossificans progressive. Expert Opin Orphan Drugs 2013; 1 (8): 637-49
    • (2013) Expert Opin Orphan Drugs , vol.1 , Issue.8 , pp. 637-649
    • Kaplan, F.S.1    Pignolo, R.J.2    Shore, E.M.3
  • 88
    • 70449420099 scopus 로고    scopus 로고
    • Palovarotene, a novel retinoic acid receptor gamma agonist for the treatment of emphysema
    • Hind M, Stinchcombe S. Palovarotene, a novel retinoic acid receptor gamma agonist for the treatment of emphysema. Curr Opin Investig Drugs 2009; 10 (11): 1243-50
    • (2009) Curr Opin Investig Drugs , vol.10 , Issue.11 , pp. 1243-1250
    • Hind, M.1    Stinchcombe, S.2
  • 89
    • 0035137651 scopus 로고    scopus 로고
    • In vivo modulation of FGF biological activity alters cranial suture fate
    • Greenwald JA, Mehrara BJ, Spector JA, et al. In vivo modulation of FGF biological activity alters cranial suture fate. Am J Pathol 2001; 158 (2): 441-52
    • (2001) Am J Pathol , vol.158 , Issue.2 , pp. 441-452
    • Greenwald, J.A.1    Mehrara, B.J.2    Spector, J.A.3
  • 90
    • 34548371795 scopus 로고    scopus 로고
    • RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis
    • Shukla V, Coumoul X, Wang RH, et al. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet 2007; 39 (9): 1145-50
    • (2007) Nat Genet , vol.39 , Issue.9 , pp. 1145-1150
    • Shukla, V.1    Coumoul, X.2    Wang, R.H.3
  • 91
    • 0038678576 scopus 로고    scopus 로고
    • Erk pathway and activator protein 1 play crucial roles in FGF2-stimulated premature cranial suture closure
    • Kim HJ, Lee MH, Park HS, et al. Erk pathway and activator protein 1 play crucial roles in FGF2-stimulated premature cranial suture closure. Dev Dyn 2003; 227 (3): 335-46
    • (2003) Dev Dyn , vol.227 , Issue.3 , pp. 335-346
    • Kim, H.J.1    Lee, M.H.2    Park, H.S.3
  • 92
    • 11144358656 scopus 로고    scopus 로고
    • Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway
    • Yasoda A, Komatsu Y, Chusho H, et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med 2004; 10 (1): 80-6
    • (2004) Nat Med , vol.10 , Issue.1 , pp. 80-86
    • Yasoda, A.1    Komatsu, Y.2    Chusho, H.3
  • 93
    • 84870858575 scopus 로고    scopus 로고
    • Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia
    • Lorget F, Kaci N, Peng J, et al. Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. Am J Hum Genet 2012; 91 (6): 1108-14
    • (2012) Am J Hum Genet , vol.91 , Issue.6 , pp. 1108-1114
    • Lorget, F.1    Kaci, N.2    Peng, J.3
  • 94
    • 84928935546 scopus 로고    scopus 로고
    • Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism
    • Wendt DJ, Dvorak-Ewell M, Bullens S, et al. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism. J Pharmacol Exp Ther 2015; 353 (1): 132-49
    • (2015) J Pharmacol Exp Ther , vol.353 , Issue.1 , pp. 132-149
    • Wendt, D.J.1    Dvorak-Ewell, M.2    Bullens, S.3
  • 95
    • 84866868392 scopus 로고    scopus 로고
    • A novel method for the large-scale production of PG-CNP37, a C-type natriuretic peptide analogue
    • Long S, Wendt DJ, Bell SM, et al. A novel method for the large-scale production of PG-CNP37, a C-type natriuretic peptide analogue. J Biotechnol 2012; 164 (2): 196-201
    • (2012) J Biotechnol , vol.164 , Issue.2 , pp. 196-201
    • Long, S.1    Wendt, D.J.2    Bell, S.M.3
  • 96
    • 84891886951 scopus 로고    scopus 로고
    • Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia
    • Matsushita M, Kitoh H, Ohkawara B, et al. Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia. PLoS One 2013; 8 (12): e81569
    • (2013) PLoS One , vol.8 , Issue.12 , pp. e81569
    • Matsushita, M.1    Kitoh, H.2    Ohkawara, B.3
  • 97
    • 84921641417 scopus 로고    scopus 로고
    • Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in the FGFR3 Gene
    • Matsushita M, Hasegawa S, Kitoh H, et al. Meclozine Promotes Longitudinal Skeletal Growth in Transgenic Mice with Achondroplasia Carrying a Gain-of-Function Mutation in the FGFR3 Gene. Endocrinology 2015; 156 (2): 548-54
    • (2015) Endocrinology , vol.156 , Issue.2 , pp. 548-554
    • Matsushita, M.1    Hasegawa, S.2    Kitoh, H.3
  • 98
    • 84908571755 scopus 로고    scopus 로고
    • Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
    • Yamashita A, Morioka M, Kishi H, et al. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature 2014; 513 (7519): 507-11
    • (2014) Nature , vol.513 , Issue.7519 , pp. 507-511
    • Yamashita, A.1    Morioka, M.2    Kishi, H.3
  • 100
    • 84869141720 scopus 로고    scopus 로고
    • An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failure
    • Thorneloe KS, Cheung M, Bao W, et al. An orally active TRPV4 channel blocker prevents and resolves pulmonary edema induced by heart failure. Sci Transl Med 2012; 4 (159): 159ra148
    • (2012) Sci Transl Med , vol.4 , Issue.159 , pp. 159ra148
    • Thorneloe, K.S.1    Cheung, M.2    Bao, W.3
  • 101
    • 84879780301 scopus 로고    scopus 로고
    • Temporomandibular joint pain: A critical role for Trpv4 in the trigeminal ganglion
    • Chen Y, Williams SH, McNulty AL, et al. Temporomandibular joint pain: a critical role for Trpv4 in the trigeminal ganglion. Pain 2013; 154 (8): 1295-304
    • (2013) Pain , vol.154 , Issue.8 , pp. 1295-1304
    • Chen, Y.1    Williams, S.H.2    McNulty, A.L.3
  • 102
    • 84904653988 scopus 로고    scopus 로고
    • Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders
    • Weinstein MM, Tompson SW, Chen Y, et al. Mice expressing mutant Trpv4 recapitulate the human TRPV4 disorders. J Bone Miner Res 2014; 29 (8): 1815-22
    • (2014) J Bone Miner Res , vol.29 , Issue.8 , pp. 1815-1822
    • Weinstein, M.M.1    Tompson, S.W.2    Chen, Y.3
  • 103
    • 2942750232 scopus 로고    scopus 로고
    • Treatment of fibrous dysplasia of bone with intravenous pamidronate: Long-term effectiveness and evaluation of predictors of response to treatment
    • Chapurlat RD, Hugueny P, Delmas PD, Meunier PJ. Treatment of fibrous dysplasia of bone with intravenous pamidronate: long-term effectiveness and evaluation of predictors of response to treatment. Bone 2004; 35 (1): 235-42
    • (2004) Bone , vol.35 , Issue.1 , pp. 235-242
    • Chapurlat, R.D.1    Hugueny, P.2    Delmas, P.D.3    Meunier, P.J.4
  • 104
    • 84918830147 scopus 로고    scopus 로고
    • Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II
    • Arita M, Fertala J, Hou C, et al. Mechanisms of aberrant organization of growth plates in conditional transgenic mouse model of spondyloepiphyseal dysplasia associated with the R992C substitution in collagen II. Am J Pathol 2015; 185 (1): 214-29
    • (2015) Am J Pathol , vol.185 , Issue.1 , pp. 214-229
    • Arita, M.1    Fertala, J.2    Hou, C.3
  • 105
    • 84906098667 scopus 로고    scopus 로고
    • Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation
    • De Leonardis F, Monti L, Gualeni B, et al. Altered signaling in the G1 phase deregulates chondrocyte growth in a mouse model with proteoglycan undersulfation. J Cell Biochem 2014; 115 (10): 1779-86
    • (2014) J Cell Biochem , vol.115 , Issue.10 , pp. 1779-1786
    • De Leonardis, F.1    Monti, L.2    Gualeni, B.3
  • 106
    • 84923340852 scopus 로고    scopus 로고
    • Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth
    • Kung LH, Rajpar MH, Preziosi R, et al. Increased classical endoplasmic reticulum stress is sufficient to reduce chondrocyte proliferation rate in the growth plate and decrease bone growth. PLoS One 2015; 10 (2): e0117016
    • (2015) PLoS One , vol.10 , Issue.2 , pp. e0117016
    • Kung, L.H.1    Rajpar, M.H.2    Preziosi, R.3
  • 107
    • 84888880961 scopus 로고    scopus 로고
    • A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth
    • Gualeni B, Rajpar MH, Kellogg A, et al. A novel transgenic mouse model of growth plate dysplasia reveals that decreased chondrocyte proliferation due to chronic ER stress is a key factor in reduced bone growth. Dis Model Mech 2013; 6 (6): 1414-25
    • (2013) Dis Model Mech , vol.6 , Issue.6 , pp. 1414-1425
    • Gualeni, B.1    Rajpar, M.H.2    Kellogg, A.3
  • 108
    • 9144252010 scopus 로고    scopus 로고
    • A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: Clinical and pathogenetic overlap with collagen IX mutations
    • Jakkula E, Lohiniva J, Capone A, et al. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations. J Med Genet 2003; 40: 942-8.
    • (2003) J Med Genet , vol.40 , pp. 942-942
    • Jakkula, E.1    Lohiniva, J.2    Capone, A.3
  • 109
    • 77950446292 scopus 로고    scopus 로고
    • Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy
    • Jackson GC, Marcus-Soekarman D, Stolte-Dijkstra I, et al. Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy. Am J Med Gen 2010; 152A (4): 863-9.
    • (2010) Am J Med Gen , vol.152 A , Issue.4 , pp. 863-863
    • Jackson, G.C.1    Marcus-Soekarman, D.2    Stolte-Dijkstra, I.3
  • 110
    • 0037623561 scopus 로고    scopus 로고
    • Muscle fibrillin deficiency in Marfans syndrome myopathy
    • Behan WM, Longman C, Petty RK, et al. Muscle fibrillin deficiency in Marfans syndrome myopathy. J Neurol Neurosur Psychiat 2003; 74 (5): 633-8.
    • (2003) J Neurol Neurosur Psychiat , vol.74 , Issue.5 , pp. 633-633
    • Behan, W.M.1    Longman, C.2    Petty, R.K.3
  • 111
    • 53249115097 scopus 로고    scopus 로고
    • Clinical and molecular overlap between myopathies and inherited connective tissue diseases
    • Voermans NC, Bonnemann CG, Huijing PA, et al. Clinical and molecular overlap between myopathies and inherited connective tissue diseases. Neuromuscul Disord 2008; 18 (11): 843-56.
    • (2008) Neuromuscul Disord , vol.18 , Issue.11 , pp. 843-843
    • Voermans, N.C.1    Bonnemann, C.G.2    Huijing, P.A.3
  • 112
    • 33947153461 scopus 로고    scopus 로고
    • Skeletal dysplasia presenting as a neuromuscular disorder - Report of three children
    • Bondestam J, Pihko H, Vanhanen SL, et al. Skeletal dysplasia presenting as a neuromuscular disorder-report of three children. Neuromuscul Disord 2007; 17 (3): 231-4.
    • (2007) Neuromuscul Disord , vol.17 , Issue.3 , pp. 231-231
    • Bondestam, J.1    Pihko, H.2    Vanhanen, S.L.3
  • 113
    • 0018957629 scopus 로고
    • Muscular changes in Engelmanns disease
    • Yoshioka H, Mino M, Kiyosawa N, et al. Muscular changes in Engelmanns disease. Arch Dis Child 1980; 55 (9): 716-19.
    • (1980) Arch Dis Child , vol.55 , Issue.9 , pp. 716-716
    • Yoshioka, H.1    Mino, M.2    Kiyosawa, N.3
  • 114
    • 0015991744 scopus 로고
    • Chondrodystrophic myotonia. A report of two unrelated Dutch patients
    • van Huffelen AC, Gabreels FJ, Luypen-vd Horst JS, et al. Chondrodystrophic myotonia. A report of two unrelated Dutch patients. Neuropadiatrie 1974; 5 (1): 71-90.
    • (1974) Neuropadiatrie , vol.5 , Issue.1 , pp. 71-71
    • Van Huffelen, A.C.1    Gabreels, F.J.2    Luypen-Vd Horst, J.S.3
  • 115
    • 13344257514 scopus 로고
    • Congenital blepharophimosis associated with a unique generalized myopathy
    • Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962; 68: 52-7.
    • (1962) Arch Ophthalmol , vol.68 , pp. 52-52
    • Schwartz, O.1    Jampel, R.S.2
  • 116
    • 84927928303 scopus 로고    scopus 로고
    • Mechanoresponsive, omni-directional and local matrix-degrading actin protrusions in human mesenchymal stem cells microencapsulated in a 3D collagen matrix
    • Ho FC, Zhang W, Li YY, Chan BP. Mechanoresponsive, omni-directional and local matrix-degrading actin protrusions in human mesenchymal stem cells microencapsulated in a 3D collagen matrix. Biomaterials 2015; 53: 392-405.
    • (2015) Biomaterials , vol.53 , pp. 392-392
    • Ho, F.C.1    Zhang, W.2    Li, Y.Y.3    Chan, B.P.4
  • 117
    • 28044444896 scopus 로고    scopus 로고
    • From mechanostat theory to development of the Functional Muscle-Bone-Unit
    • Schoenau E. From mechanostat theory to development of the Functional Muscle-Bone-Unit. J Musculoskelet Neuronal Interact 2005; 5 (3): 232-8.
    • (2005) J Musculoskelet Neuronal Interact , vol.5 , Issue.3 , pp. 232-232
    • Schoenau, E.1
  • 118
    • 84867868437 scopus 로고    scopus 로고
    • Osteoarthritis year 2012 in review: Biomarkers
    • Mobasheri A. Osteoarthritis year 2012 in review: biomarkers. Osteoarthritis Cartilage 2012; 20 (12): 1451-64
    • (2012) Osteoarthritis Cartilage , vol.20 , Issue.12 , pp. 1451-1464
    • Mobasheri, A.1
  • 119
    • 84928751258 scopus 로고    scopus 로고
    • Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints
    • Kakkis ED, ODonovan M, Cox G, et al. Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. Orphanet J Rare Dis 2015; 10 (1): 16
    • (2015) Orphanet J Rare Dis , vol.10 , Issue.1 , pp. 16
    • Kakkis, E.D.1    ODonovan, M.2    Cox, G.3
  • 120
    • 84890558313 scopus 로고    scopus 로고
    • Musculoskeletal functional outcomes in children with osteogenesis imperfecta: Associations with disease severity and pamidronate therapy
    • Sousa T, Bompadre V, White KK. Musculoskeletal functional outcomes in children with osteogenesis imperfecta: associations with disease severity and pamidronate therapy. J Pediatr Orthop 2014; 34 (1): 118-22
    • (2014) J Pediatr Orthop , vol.34 , Issue.1 , pp. 118-122
    • Sousa, T.1    Bompadre, V.2    White, K.K.3
  • 121
    • 84880573008 scopus 로고    scopus 로고
    • Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age
    • Alcausin MB, Briody J, Pacey V, et al. Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. Horm Res Paediatr 2013; 79 (6): 333-40
    • (2013) Horm Res Paediatr , vol.79 , Issue.6 , pp. 333-340
    • Alcausin, M.B.1    Briody, J.2    Pacey, V.3
  • 122
    • 84927740769 scopus 로고    scopus 로고
    • Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: Meta-analysis of placebo-controlled trials
    • Hald JD, Evangelou E, Langdahl BL, Ralston SH. Bisphosphonates for the prevention of fractures in osteogenesis imperfecta: meta-analysis of placebo-controlled trials. J Bone Miner Res 2015; 30 (5): 929-33
    • (2015) J Bone Miner Res , vol.30 , Issue.5 , pp. 929-933
    • Hald, J.D.1    Evangelou, E.2    Langdahl, B.L.3    Ralston, S.H.4
  • 123
    • 84902168946 scopus 로고    scopus 로고
    • Orphan drugs policies: A suitable case for treatment
    • Drummond M, Towse A. Orphan drugs policies: a suitable case for treatment. Eur J Health Econ 2014; 15 (4): 335-40
    • (2014) Eur J Health Econ , vol.15 , Issue.4 , pp. 335-340
    • Drummond, M.1    Towse, A.2
  • 124
    • 0022293662 scopus 로고
    • Pattern recognition in bone dysplasias
    • Spranger J. Pattern recognition in bone dysplasias. Prog Clin Biol Res 1985; 200: 315-42
    • (1985) Prog Clin Biol Res , vol.200 , pp. 315-342
    • Spranger, J.1
  • 125
    • 84908868245 scopus 로고    scopus 로고
    • Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies
    • De Palma S, Capitanio D, Vasso M, et al. Muscle proteomics reveals novel insights into the pathophysiological mechanisms of collagen VI myopathies. J Proteome Res 2014; 13 (11): 5022-30
    • (2014) J Proteome Res , vol.13 , Issue.11 , pp. 5022-5030
    • De Palma, S.1    Capitanio, D.2    Vasso, M.3
  • 126
    • 84879695583 scopus 로고    scopus 로고
    • The intersecting roles of endoplasmic reticulum stress, ubiquitin- proteasome system, and autophagy in the pathogenesis of proteinuric kidney disease
    • Cybulsky AV. The intersecting roles of endoplasmic reticulum stress, ubiquitin- proteasome system, and autophagy in the pathogenesis of proteinuric kidney disease. Kidney Int 2013; 84 (1): 25-33
    • (2013) Kidney Int , vol.84 , Issue.1 , pp. 25-33
    • Cybulsky, A.V.1
  • 127
    • 84911471382 scopus 로고    scopus 로고
    • Basic mechanisms in endoplasmic reticulum stress and relation to cardiovascular diseases
    • Sozen E, Karademir B, Ozer NK. Basic mechanisms in endoplasmic reticulum stress and relation to cardiovascular diseases. Free Radic Biol Med 2015; 78: 30-41
    • (2015) Free Radic Biol Med , vol.78 , pp. 30-41
    • Sozen, E.1    Karademir, B.2    Ozer, N.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.