From an orphan disease to a generalized molecular mechanism

References

• Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, et al. Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. PLoS Genet 2011; 7:e1002050; http://dx.doi.org/10.1371/journal.pgen.1002050; PMID: 21533187
   PubMedGoogle Scholar
• Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, et al. Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 2010; 6:e1000991; http://dx.doi.org/10.1371/journal.pgen.1000991; PMID: 20577567
   PubMedGoogle Scholar
• Kennedy LA. Metachondromatosis. Radiology 1983; 148:117 - 8; PMID: 6602353
   PubMed Web of Science ®Google Scholar
• Pansuriya TC, Kroon HM, Bovée JV. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol 2010; 3:557 - 69; PMID: 20661403
   PubMed Web of Science ®Google Scholar
• Bovée JV. Multiple osteochondromas. Orphanet J Rare Dis 2008; 3:3; http://dx.doi.org/10.1186/1750-1172-3-3; PMID: 18271966
   PubMed Web of Science ®Google Scholar
• Hunter AG, Kozlowski K, Hochberger O. Metachondromatosis. Can Assoc Radiol J 1995; 46:202 - 8; PMID: 7538882
   PubMed Web of Science ®Google Scholar
• Keret D, Bassett GS. Avascular necrosis of the capital femoral epiphysis in metachondromatosis. J Pediatr Orthop 1990; 10:658 - 61; http://dx.doi.org/10.1097/01241398-199009000-00017; PMID: 2394820
   PubMed Web of Science ®Google Scholar
• Bassett GS, Cowell HR. Metachondromatosis. Report of four cases. J Bone Joint Surg Am 1985; 67:811 - 4; PMID: 3873457
   PubMed Web of Science ®Google Scholar
• Mavrogenis AF, Skarpidi E, Papakonstantinou O, Papagelopoulos PJ. Chondrosarcoma in metachondromatosis: a case report. J Bone Joint Surg Am 2010; 92:1507 - 13; http://dx.doi.org/10.2106/JBJS.I.00693; PMID: 20516327
   PubMed Web of Science ®Google Scholar
• Neel BG, Chan G, Dhanji S. SH2 Domain-Containing Protein-Tyrosine Phosphatases. Handbook of Cell Signaling, 771-809, (2009).
   Google Scholar
• Grossmann KS, Rosário M, Birchmeier C, Birchmeier W. The tyrosine phosphatase Shp2 in development and cancer. Adv Cancer Res 2010; 106:53 - 89; http://dx.doi.org/10.1016/S0065-230X(10)06002-1; PMID: 20399956
   PubMed Web of Science ®Google Scholar
• Blenis PPRJ. MAPK Signaling in Human Diseases. Vol. 2 (Humana Press, 2007).
   Google Scholar
• Matsushita T, Murakami S.The ERK MAPK Pathway in Bone and Cartilage Formation. In: Da Silva Xavier G, ed., Protein Kinases: 2012.
   Google Scholar
• Chan G, Kalaitzidis D, Neel BG. The tyrosine phosphatase Shp2 (PTPN11) in cancer. Cancer Metastasis Rev 2008; 27:179 - 92; http://dx.doi.org/10.1007/s10555-008-9126-y; PMID: 18286234
   PubMed Web of Science ®Google Scholar
• Yang W, Wang J, Moore DC, Liang H, Dooner M, Wu Q, Terek R, Chen Q, Ehrlich MG, Quesenberry PJ, et al. Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. Nature 2013; 499:491 - 5; http://dx.doi.org/10.1038/nature12396; PMID: 23863940
   PubMed Web of Science ®Google Scholar
• Saxton TM, Henkemeyer M, Gasca S, Shen R, Rossi DJ, Shalaby F, Feng GS, Pawson T. Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J 1997; 16:2352 - 64; http://dx.doi.org/10.1093/emboj/16.9.2352; PMID: 9171349
   PubMed Web of Science ®Google Scholar
• Yang W, Klaman LD, Chen B, Araki T, Harada H, Thomas SM, George EL, Neel BG. An Shp2/SFK/Ras/Erk signaling pathway controls trophoblast stem cell survival. Dev Cell 2006; 10:317 - 27; http://dx.doi.org/10.1016/j.devcel.2006.01.002; PMID: 16516835
   PubMed Web of Science ®Google Scholar
• Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. PTPN11 mutations in LEOPARD syndrome. J Med Genet 2002; 39:571 - 4; http://dx.doi.org/10.1136/jmg.39.8.571; PMID: 12161596
   PubMed Web of Science ®Google Scholar
• Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29:465 - 8; http://dx.doi.org/10.1038/ng772; PMID: 11704759
   PubMed Web of Science ®Google Scholar
• Nakamura T, Gulick J, Pratt R, Robbins J. Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A 2009; 106:15436 - 41; http://dx.doi.org/10.1073/pnas.0903302106; PMID: 19706403
   PubMed Web of Science ®Google Scholar
• Fragale A, Tartaglia M, Wu J, Gelb BD. Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. Hum Mutat 2004; 23:267 - 77; http://dx.doi.org/10.1002/humu.20005; PMID: 14974085
   PubMed Web of Science ®Google Scholar
• Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70:1555 - 63; http://dx.doi.org/10.1086/340847; PMID: 11992261
   PubMed Web of Science ®Google Scholar
• Li S, Hsu DD, Wang H, Feng GS. Dual faces of SH2-containing protein-tyrosine phosphatase Shp2/PTPN11 in tumorigenesis. Front Med 2012; 6:275 - 9; http://dx.doi.org/10.1007/s11684-012-0216-4; PMID: 22869052
   PubMedGoogle Scholar
• Shapiro F, Holtrop ME, Glimcher MJ. Organization and cellular biology of the perichondrial ossification groove of ranvier: a morphological study in rabbits. J Bone Joint Surg Am 1977; 59:703 - 23; PMID: 71299
   PubMed Web of Science ®Google Scholar
• Bovée JV, Hogendoorn PC, Wunder JS, Alman BA. Cartilage tumours and bone development: molecular pathology and possible therapeutic targets. Nat Rev Cancer 2010; 10:481 - 8; http://dx.doi.org/10.1038/nrc2869; PMID: 20535132
   PubMed Web of Science ®Google Scholar
• Jones KB, Piombo V, Searby C, Kurriger G, Yang B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, et al. A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A 2010; 107:2054 - 9; http://dx.doi.org/10.1073/pnas.0910875107; PMID: 20080592
   PubMed Web of Science ®Google Scholar
• Bovée JV. EXTra hit for mouse osteochondroma. Proc Natl Acad Sci U S A 2010; 107:1813 - 4; http://dx.doi.org/10.1073/pnas.0914431107; PMID: 20133829
   PubMed Web of Science ®Google Scholar
• Kronenberg HM. The role of the perichondrium in fetal bone development. Ann N Y Acad Sci 2007; 1116:59 - 64; http://dx.doi.org/10.1196/annals.1402.059; PMID: 18083921
   PubMed Web of Science ®Google Scholar
• Brunham LR, Hayden MR. Hunting human disease genes: lessons from the past, challenges for the future. Hum Genet 2013; 132:603 - 17; http://dx.doi.org/10.1007/s00439-013-1286-3; PMID: 23504071
   PubMed Web of Science ®Google Scholar
• de Crombrugghe B, Lefebvre V, Nakashima K. Regulatory mechanisms in the pathways of cartilage and bone formation. Curr Opin Cell Biol 2001; 13:721 - 7; http://dx.doi.org/10.1016/S0955-0674(00)00276-3; PMID: 11698188
   PubMed Web of Science ®Google Scholar
• Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002; 16:1446 - 65; http://dx.doi.org/10.1101/gad.990702; PMID: 12080084
   PubMed Web of Science ®Google Scholar
• Nakashima K, de Crombrugghe B. Transcriptional mechanisms in osteoblast differentiation and bone formation. Trends Genet 2003; 19:458 - 66; http://dx.doi.org/10.1016/S0168-9525(03)00176-8; PMID: 12902164
   PubMed Web of Science ®Google Scholar
• Goldring MB, Tsuchimochi K, Ijiri K. The control of chondrogenesis. J Cell Biochem 2006; 97:33 - 44; http://dx.doi.org/10.1002/jcb.20652; PMID: 16215986
   PubMed Web of Science ®Google Scholar
• Kronenberg HM. Developmental regulation of the growth plate. Nature 2003; 423:332 - 6; http://dx.doi.org/10.1038/nature01657; PMID: 12748651
   PubMed Web of Science ®Google Scholar
• Pogue R, Lyons K. BMP signaling in the cartilage growth plate. Curr Top Dev Biol 2006; 76:1 - 48; http://dx.doi.org/10.1016/S0070-2153(06)76001-X; PMID: 17118262
   PubMed Web of Science ®Google Scholar
• Liu JP, Baker J, Perkins AS, Robertson EJ, Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor I (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993; 75:59 - 72; PMID: 8402901
   PubMed Web of Science ®Google Scholar
• Day TF, Yang Y. Wnt and hedgehog signaling pathways in bone development. J Bone Joint Surg Am 2008; 90:Suppl 1 19 - 24; http://dx.doi.org/10.2106/JBJS.G.01174; PMID: 18292352
   PubMed Web of Science ®Google Scholar
• Liu Z, Xu J, Colvin JS, Ornitz DM. Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18. Genes Dev 2002; 16:859 - 69; http://dx.doi.org/10.1101/gad.965602; PMID: 11937493
   PubMed Web of Science ®Google Scholar
• Colvin JS, Bohne BA, Harding GW, McEwen DG, Ornitz DM. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Nat Genet 1996; 12:390 - 7; http://dx.doi.org/10.1038/ng0496-390; PMID: 8630492
   PubMed Web of Science ®Google Scholar
• St-Jacques B, Hammerschmidt M, McMahon AP. Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev 1999; 13:2072 - 86; http://dx.doi.org/10.1101/gad.13.16.2072; PMID: 10465785
   PubMed Web of Science ®Google Scholar
• Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Jüppner H, Andrulis IL, Wunder JS, et al. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 2002; 30:306 - 10; http://dx.doi.org/10.1038/ng844; PMID: 11850620
   PubMed Web of Science ®Google Scholar
• Bovée JV, van den Broek LJ, Cleton-Jansen AM, Hogendoorn PC. Up-regulation of PTHrP and Bcl-2 expression characterizes the progression of osteochondroma towards peripheral chondrosarcoma and is a late event in central chondrosarcoma. Lab Invest 2000; 80:1925 - 34; http://dx.doi.org/10.1038/labinvest.3780202; PMID: 11140704
   PubMed Web of Science ®Google Scholar
• Benoist-Lasselin C, de Margerie E, Gibbs L, Cormier S, Silve C, Nicolas G, LeMerrer M, Mallet JF, Munnich A, Bonaventure J, et al. Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients. Bone 2006; 39:17 - 26; http://dx.doi.org/10.1016/j.bone.2005.12.003; PMID: 16476576
   PubMed Web of Science ®Google Scholar
• Chung UI, Schipani E, McMahon AP, Kronenberg HM. Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development. J Clin Invest 2001; 107:295 - 304; http://dx.doi.org/10.1172/JCI11706; PMID: 11160153
   PubMed Web of Science ®Google Scholar
• Robbins DJ, Fei DL, Riobo NA. The Hedgehog signal transduction network. Sci Signal 2012; 5:re6; http://dx.doi.org/10.1126/scisignal.2002906; PMID: 23074268
   PubMed Web of Science ®Google Scholar
• Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 1996; 85:841 - 51; http://dx.doi.org/10.1016/S0092-8674(00)81268-4; PMID: 8681379
   PubMed Web of Science ®Google Scholar
• Yu Z, Pestell TG, Lisanti MP, Pestell RG. Cancer stem cells. Int J Biochem Cell Biol 2012; 44:2144 - 51; http://dx.doi.org/10.1016/j.biocel.2012.08.022; PMID: 22981632
   PubMed Web of Science ®Google Scholar
• Shahi MH, Rey JA, Castresana JS. The sonic hedgehog-GLI1 signaling pathway in brain tumor development. Expert Opin Ther Targets 2012; 16:1227 - 38; http://dx.doi.org/10.1517/14728222.2012.720975; PMID: 22992192
   PubMed Web of Science ®Google Scholar
• Tiet TD, Hopyan S, Nadesan P, Gokgoz N, Poon R, Lin AC, Yan T, Andrulis IL, Alman BA, Wunder JS. Constitutive hedgehog signaling in chondrosarcoma up-regulates tumor cell proliferation. Am J Pathol 2006; 168:321 - 30; http://dx.doi.org/10.2353/ajpath.2006.050001; PMID: 16400033
   PubMed Web of Science ®Google Scholar
• Hadden MK. Hedgehog pathway inhibitors: a patent review (2009--present). Expert Opin Ther Pat 2013; 23:345 - 61; http://dx.doi.org/10.1517/13543776.2013.757304; PMID: 23294277
   PubMed Web of Science ®Google Scholar
• Sekulic A, Mangold AR, Northfelt DW, LoRusso PM. Advanced basal cell carcinoma of the skin: targeting the hedgehog pathway. Curr Opin Oncol 2013; 25:218 - 23; PMID: 23493193
   PubMed Web of Science ®Google Scholar
• Dubey AK, Dubey S, Handu SS, Qazi MA. Vismodegib: the first drug approved for advanced and metastatic basal cell carcinoma. J Postgrad Med 2013; 59:48 - 50; http://dx.doi.org/10.4103/0022-3859.109494; PMID: 23525058
   PubMed Web of Science ®Google Scholar
• Morko J, Kiviranta R, Mulari MT, Ivaska KK, Väänänen HK, Vuorio E, Laitala-Leinonen T. Overexpression of cathepsin K accelerates the resorption cycle and osteoblast differentiation in vitro. Bone 2009; 44:717 - 28; http://dx.doi.org/10.1016/j.bone.2008.11.019; PMID: 19118660
   PubMed Web of Science ®Google Scholar
• Alsalameh S, Amin R, Gemba T, Lotz M. Identification of mesenchymal progenitor cells in normal and osteoarthritic human articular cartilage. Arthritis Rheum 2004; 50:1522 - 32; http://dx.doi.org/10.1002/art.20269; PMID: 15146422
   PubMed Web of Science ®Google Scholar
• Lotz MK, Otsuki S, Grogan SP, Sah R, Terkeltaub R, D’Lima D. Cartilage cell clusters. Arthritis Rheum 2010; 62:2206 - 18; http://dx.doi.org/10.1002/art.27528; PMID: 20506158
   PubMed Web of Science ®Google Scholar
• Grogan SP, Miyaki S, Asahara H, D’Lima DD, Lotz MK. Mesenchymal progenitor cell markers in human articular cartilage: normal distribution and changes in osteoarthritis. Arthritis Res Ther 2009; 11:R85; http://dx.doi.org/10.1186/ar2719; PMID: 19500336
   PubMed Web of Science ®Google Scholar
• Koelling S, Kruegel J, Irmer M, Path JR, Sadowski B, Miro X, Miosge N. Migratory chondrogenic progenitor cells from repair tissue during the later stages of human osteoarthritis. Cell Stem Cell 2009; 4:324 - 35; http://dx.doi.org/10.1016/j.stem.2009.01.015; PMID: 19341622
   PubMed Web of Science ®Google Scholar
• Fenichel I, Evron Z, Nevo Z. The perichondrial ring as a reservoir for precartilaginous cells. In vivo model in young chicks’ epiphysis. Int Orthop 2006; 30:353 - 6; http://dx.doi.org/10.1007/s00264-006-0082-2; PMID: 16652202
   PubMed Web of Science ®Google Scholar
• Karlsson C, Thornemo M, Henriksson HB, Lindahl A. Identification of a stem cell niche in the zone of Ranvier within the knee joint. J Anat 2009; 215:355 - 63; http://dx.doi.org/10.1111/j.1469-7580.2009.01115.x; PMID: 19563472
   PubMed Web of Science ®Google Scholar
• Heemstra HE, van Weely S, Büller HA, Leufkens HG, de Vrueh RL. Translation of rare disease research into orphan drug development: disease matters. Drug Discov Today 2009; 14:1166 - 73; http://dx.doi.org/10.1016/j.drudis.2009.09.008; PMID: 19818412
   PubMed Web of Science ®Google Scholar