SEARCH

SEARCH BY CITATION

REFERENCES

  • Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. 1995. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet 11: 137143.
  • Bolton P, Powell J, Rutter M, Buckle V, Yates JR, Ishikawa-Brush Y, Monaco AP. 1995. Autism, mental retardation, multiple exostoses and short stature in a female with 46,X,t(X;8)(p22.13;q22.1). Psychiatr Genet 5: 5155.
  • Bovee JV. 2008. Multiple osteochondromas. Orphanet J Rare Dis 3: 3.
  • Clement A, Wiweger M, von der Hardt S, Rusch MA, Selleck SB, Chien CB, Roehl HH. 2008. Regulation of zebrafish skeletogenesis by ext2/dackel and papst1/pinscher. PLoS Genet 4: e1000136.
  • Delgado E, Rodriguez JI, Serrada A, Tellez M, Paniagua R. 1985. Radiation-induced osteochondroma-like lesion in young rat radius. Clin Orthop Relat Res 201: 251258.
  • Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA. 2002. A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 30: 306310.
  • Ishikawa-Brush Y, Powell JF, Bolton P, Miller AP, Francis F, Willard HF, Lehrach H, Monaco AP. 1997. Autism and multiple exostoses associated with an X;8 translocation occurring within the GRPR gene and 3′ to the SDC2 gene. Hum Mol Genet 6: 12411250.
  • Jennes I, Pedrini E, Zuntini M, Mordenti M, Balkassmi S, Asteggiano CG, Casey B, Bakker B, Sangiorgi L, Wuyts W. 2009. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat 30: 16201627.
  • Jones KB, Virginia Piombo V, Charles Searby C, Kurriger G, Yange B, Grabellus F, Roughley PJ, Morcuende JA, Buckwalter JA, Capecchi MR, Vortkamp A, Sheffieldd VC. 2009. A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A 107: 20542059.
  • Kaplan FS, Pignolo RJ, Shore EM. 2009. The FOP metamorphogene encodes a novel type I receptor that dysregulates BMP signaling. Cytokine Growth Factor Rev 20: 399407.
  • Koyama E, Young B, Nagayama M, Shibukawa Y, Enomoto-Iwamoto M, Iwamoto M, Maeda Y, Lanske B, Song B, Serra R, Pacifici M. 2007. Conditional Kif3a ablation causes abnormal hedgehog signaling topography, growth plate dysfunction, and excessive bone and cartilage formation during mouse skeletogenesis. Development 134: 21592169.
  • Koziel L, Kunath M, Kelly OG, Vortkamp A. 2004. Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification. Dev Cell 6: 801813.
  • Li H, Yamagata T, Mori M, Momoi MY. 2002. Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1. J Hum Genet 47: 262265.
  • Liem YS, Bode L, Freeze HH, Leebeek FW, Zandbergen AA, Paul Wilson J. 2008. Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib. Nat Clin Pract Gastroenterol Hepatol 5: 220224.
  • Lin X. 2004. Functions of heparan sulfate proteoglycans in cell signaling during development. Development 131: 60096021.
  • Mansoor A, Beals RK. 2007. Multiple exostosis: a short study of abnormalities near the growth plate. J Pediatr Orthop B 16: 363365.
  • McCormick C, Leduc Y, Martindale D, Mattison K, Esford LE, Dyer AP, Tufaro F. 1998. The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. Nat Genet 19: 158161.
  • Ogden JA. 1976. Multiple hereditary osteochondromata. Report of an early case. Clin Orthop Relat Res 116: 4860.
  • Osterholm C, Barczyk MM, Busse M, Gronning M, Reed RK, Kusche-Gullberg M. 2009. Mutation in the heparan sulfate biosynthesis enzyme EXT1 influences growth factor signaling and fibroblast interactions with the extracellular matrix. J Biol Chem 284: 3493534943.
  • Porter DE, Simpson AH. 1999. The neoplastic pathogenesis of solitary and multiple osteochondromas. J Pathol 188: 119125.
  • Stanford KI, Wang L, Castagnola J, Song D, Bishop JR, Brown JR, Lawrence R, Bai X, Habuchi H, Tanaka M, Cardoso WV, Kimata K, Esko JD. 2010. Heparan sulfate 2-O-sulfotransferase is required for triglyceride-rich lipoprotein clearance. J Biol Chem 285: 286294.
  • Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hogue D, Hecht JT, Lovett M, Evans GA. 1996. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet 14: 2532.
  • Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. 1996. Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet 5: 15471557.