New therapeutic targets in rare genetic skeletal diseases

Bibliography

• 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
   PubMed Web of Science ®Google Scholar
• Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med 2010;12(6):327-41
   PubMed Web of Science ®Google Scholar
• Yasoda A, Nakao K. Translational research of C-type natriuretic peptide (CNP) into skeletal dysplasias. Endocr J 2011;57(8):659-66
   Web of Science ®Google Scholar
• Glorieux FH. Bisphosphonate therapy for severe osteogenesis imperfecta. J Pediatr Endocrinol Metab 2000;13 Suppl 2:989-92
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 2012;50(Suppl 5):v49-59
   Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Boot-Handford RP, Briggs MD. The unfolded protein response and its relevance to connective tissue diseases. Cell Tissue Res 2009;339(1):197-211
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Cameron NE. Role of endoplasmic reticulum stress in diabetic neuropathy. Diabetes 2013;62(3):696-7
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Rajpar MH, McDermott B, Kung L, et al. Targeted induction of endoplasmic reticulum stress induces cartilage pathology. PLoS Genet 2009;5(10):e1000691
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Posey KL, Alcorn JL, Hecht JT. Pseudoachondroplasia/COMP - translating from the bench to the bedside. Matrix Biol 2014;37:167-73
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Berbari NF, O’Connor AK, Haycraft CJ, Yoder BK. The primary cilium as a complex signaling center. Curr Biol 2009;19:R526–35.
   PubMed Web of Science ®Google Scholar
• Whitfield JF. The solitary (primary) cilium–A mechanosensory toggle switch in bone and cartilage cells. Cell Signal 2008;20:1019–24.
   PubMed Web of Science ®Google Scholar
• McGlashan SR, Jensen CG, Poole AC. Localization of extracellular matrix receptors on the chondrocyte primary cilium. J Histochem Cytochem 2006;54:1005–14.
   PubMed Web of Science ®Google Scholar
• McGlashan S, Cluett E, Jensen C, Poole C. Primary cilia in osteoarthritic chondrocytes: from chondrons to clusters. Dev Dyn 2008;237:2013–20.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Aszódi A, Hunziker E, Brakebusch C, Faessler R. Beta1 integrins regulate chondrocyte rotation, G1 progression, and cytokinesis. Genes Dev 2003;17:2465–79.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Smith MA, Mohammad RA. Vedolizumab: an alpha4beta7 integrin inhibitor for inflammatory bowel diseases. Ann Pharmacother 2014;48(12):1629–35.
   PubMed Web of Science ®Google Scholar
• Lewis C, Krieg PA. Reagents for developmental regulation of Hedgehog signaling. Methods 2014;66(3):390–7.
   PubMed Web of Science ®Google Scholar
• Slater M. Dynamic interactions of the extracellular matrix. Histol Histopathol 1996;11(1):175–80.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Ozono K. [Enzyme replacement therapy for hypophosphatasia]. Clin Calcium 2014;24(2):257-63
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Bastepe M, Raas-Rothschild A, Silver J, et al. A form of Jansen’s 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Yamashita A, Morioka M, Kishi H, et al. Statin treatment rescues FGFR3 skeletal dysplasia phenotypes. Nature 2014;513(7519):507-11
   PubMed Web of Science ®Google Scholar
• McNulty AL, Leddy HA, Liedtke W, Guilak F. TRPV4 as a therapeutic target for joint diseases. Naunyn Schmiedebergs Arch Pharmacol 2015;388(4):437-50
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Behan WM, Longman C, Petty RK, et al. Muscle fibrillin deficiency in Marfan’s syndrome myopathy. J Neurol Neurosur Psychiat 2003;74(5):633–8.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Yoshioka H, Mino M, Kiyosawa N, et al. Muscular changes in Engelmann’s disease. Arch Dis Child 1980;55(9):716–19.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• Schwartz O, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 1962;68:52–7.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Schoenau E. From mechanostat theory to development of the Functional Muscle-Bone-Unit. J Musculoskelet Neuronal Interact 2005;5(3):232–8.
   PubMedGoogle Scholar
• Mobasheri A. Osteoarthritis year 2012 in review: biomarkers. Osteoarthritis Cartilage 2012;20(12):1451-64
   PubMed Web of Science ®Google Scholar
• Kakkis ED, O’Donovan 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Drummond M, Towse A. Orphan drugs policies: a suitable case for treatment. Eur J Health Econ 2014;15(4):335-40
   PubMed Web of Science ®Google Scholar
• Spranger J. Pattern recognition in bone dysplasias. Prog Clin Biol Res 1985;200:315-42
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar
• 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
   PubMed Web of Science ®Google Scholar