Shriners Research Center, Portland OR

Horton Laboratory Bächinger Laboratory Sakai Laboratory Hurlin Laboratory Stadler Laboratory Schweitzer Laboratory Keene Laboratory

Selected Recent Publications

Original articles  

Su W-C S, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horton WA, Fu X-Y: STAT 1 activation induced by mutant FGFR3 in thanatophoric dysplasia type II. Nature 386:288-292, 1997.

Maddox BK, Garofalo S, Keene DR, Smith C, Horton WA: Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice. Matrix Biol. 16: 93-103, 1997

Maddox BK, Keene DR, Sakai LY, Charbonneau NL, Morris NP, Ridgway CC, Boswell BA, Sussman MD, Horton WA, Bachinger HP, Hecht JT: The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. J. Biol. Chem., 272:30993-30997, 1997

Lunstrum, G.P., Cromwell, M., Keene, D.R., Cho, J., Horton W.A.: Terminal differentiation and deposition of type X collagen in a rat mesenchymal cell line. J Histochem Cytochem 47(1):1-6, 1999

Weksler, N.B., Lunstrum, G.P., Reid, E.S., Horton, W.A.: Differential effects of FGF9 and FGF2 on proliferation, differentiation and terminal differentiation of chondrocytic cells in vitro.  Biochem J, 342:677-682, 1999

Garofalo, S., Kliger-Spatz, M., Cooke, J.L., Wolstin, O., Lunstrum, G.P., Moshokovitz, S.M., Horton, W.A. and Yayon, A: Skeletal Dysplasia and defective chondrocyte differentiation by targetedover-expression of fibroblast growth factor 9 in transgenic mice.  J Bone Min Res, 14:1909-1915, 1999

Grant, T.D., Cho, J.Y., Ariail, K.S., Weksler, N.B., Smith, R.W., Horton, W.A. Col2-GFP reporter marks chondrocyte lineage and chondrogenesis during mouse skeletal development.  Develop Dyn, 218:394-400, 2000

Garofalo S, Horton WA:  Genetic-engineered models of skeletal diseases II.  Targeting mutations into transgenic mice chondrocytes.  Methods Mol. Biol. 137:491-498, 2000.

Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg K, Lee B:  LMXIB transactivation and expression in nail patella syndrome.  Hum. Molec. Genet. 9:1067-1074, 2000.

Spagnoli A, Hwa V, Horton WA, Lunstrum GP, Roberts CT, Chiarelli F, Torello M, Rosenfeld RM:  Antiproliferative effects of insulin-like growth factor binding protein-3 (IGFBP-3) in mesenchymal chondrogenic cell line RCJ3.1C5.18. Relationship to differentiation stage.  J. Biol. Chem. 276:5533-40, 2001.

Vranka J, Mokashi A, Keene DR, Tufa S, Corson G, Sussman M, Horton WA, Maddox K, Sakai L, Bachinger HP.  Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia.  Matrix Biol. 20(7):439-50, 2001.

Gaiser KG, Maddox BK, Bann JG, Boswell BA, Keene DR, Garofalo S, Horton WA: A non-glycine type II collagen mutation disrupts skeletal development in transgenic mice. J Bone Min Res. 17:39-47, 2002.

Cho JY, Grant TD, Lunstrum GP, Horton WA: Col2-GFP reporter mouse - a new tool to study skeletal development Am J Med Genet 106:251-254, 2002.

Spagnoli A, Torello M, Nagalla SR, Horton WA, Pattee P, Hwa V, Chiarelli F, Roberts CT, Rosenfeld RG: Identification of STAT-1 as a molecular target of insulin-like growth factor binding protein-3 (IGFBP-3) in the process of chondrogenesis. J Biol Chem, 277(21): 18860-7, 2002.

Gaiser KG, Maddox BK, Bann JG, Boswell BA, Keene DR, Garofalo S, and Horton WA: Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia. J Bone Miner Res., 17(1):39-47, 2002.

Longobardi L, Torello M, Buckway C, O’Rear L, Horton WA, Hwa V, Roberts CT Jr, Chiarelli F, Rosenfeld RG, and Spagnoli A: A Novel Insulin-like Growth Factor (IGF)-Independent Role for IGF Binding Protein-3 in Mesenchymal Chondroprogenitor Cell Apoptosis.  Endocrinology, 144(5):1695-702, 2003.

Horton WA: The evolving definition of a chondrodysplasia? Pediatr Pathol Mol Med, 22(1):47-52, 2003.

Horton WA: Skeletal development - insights from targeting the mouse genome. Developmental Biology Series. Lancet, 362(9383):560-9,2003.

Cho JY, Guo C. Torello M, Lunstrum GP, Iwata T, Deng C, and Horton WA: Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. Proc natl Acad Sci USA, 101(2):609-14, 2004.
.  Tavella S, Biticchi R, Schito A, Minina E, Di Martino D, Pagano A, Vortkamp A, Horton WA, Cancedda R, Garofalo S. Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression. J Bone Miner Res 19(10):1678-88, 2004.
  Holden P, Keene DR, Lunstrum GP, Bachinger HP, Horton WA: Secretion of cartilage oligomeric matrix protein is affected by the signal peptide. J Biol Chem 280:17172-79, 2005.
.  Horton, WA: Recent milestones in achondroplasia research. Am J Med Genet A 140A:166-69, 2006
  Horton, WA, Molecular Pathogenesis of achondroplasia. Grow Genet Horm, 22(4):49-54, 2006
.  Farnum CE, Lenox M, Zipfel W, Horton W, Williams R: In vivo delivery of fluoresceinated dextrans to the murine growth plate: imaging of three vascular routes by multiphoton micrsoscopy. Anat Rec A Discov Mol Cell Evol Biol 288:91-103, 2006.
Longobardi L, O’Rear L, Aakula S, Johnstone B, Shimer K, Chytil A, Horton WA, Moses HL, Spagnoli A: Effect of IGF-I in bone marrow mesenchymal stem cells in the presence or absence of TGF-ß signaling. J Bone Mineral Res 21:626-636, 2006
. Hoffman LM, Garcha K, Karamboulas K, Cowan MF, Drysdale LM, Horton WA, Underhill TM: BMP action in skeletogenesis involves attenuation of retinoid signaling. J Cell Biol 174:101-113, 2006
Horton WA: Recent milestones in achondroplasia research. Am J Med Genet 140:166-169, 2006.
Horton WA, Tuan RS, Jacenko O: International Workshop on the Skeletal Growth Plate, Matrix Biology, 26:4324-2,2007
  Alman BA, Horton WA: Developmental biology in orthopaedics. Summary 2006 AAOS Research Symposium. J Bone Joint Surg 89:668-71, 2007.
  Horton WA, Hall JG, Hecht JT: Seminar on achondroplasia. Lancet 370:162-172, 2007.
 
  Reviews / Book Chapters

Horton, W.A.: Heritable disorders of connective tissue.  Clinical Genetics.  R. N. Schimke and L. G. Jackson, eds., Wiley, Philadelphia, 1979. pp. 229-244.
      Horton, W.A., and Rimoin, D.L.: Dwarfism, Physically Handicapped Children- A Medical Atlas for the Teacher.  E. Bleck, D. Nagel, eds., Grune & Stratton, New York, 1982, pp. 451-468.
.      Horton, W.A.: Inherited metabolic disorders.  Fundamentals of Internal Medicine.  D.Kaye and L.F. Rose, eds, C.V. Mosby, St. Louis, 1983, pp. 582-595.
   Horton, W.A.: Bone dysplasias.  Primer on the Rheumatic Diseases.  Schumacher, H.G., Klippel, J.H., Koopman, W.J., eds., 11th Ed. Atlanta. Arthritis Foundation, 1997.
    Horton, W.A.: Bone and cartilage growth. In, Normal Growth--Pathophysiology and Treatment, Chapman and Hall, London.
    Horton, W.A. Hecht, J.T.: The skeletal dysplasias.  In, Nelson Textbook of Pediatrics, 16th edition. Behrman R.E., Kliegman R.M., Jenson, H.B. Eds.  Philadelphia. W.B. Saunders, 1999, pp 2113-2128.
    Horton, W.A.: Bone and joint dysplasias.  Primer on the Rheumatic Diseases.  Klippel, J.H., Crofford, L.J., Stone, J.H., Weand, C.M., Eds. Atlanta, Arthritis Foundation, 2001, 12th Edition.
    Morris, N., Keene, D.R. and Horton, W.A.:  Morphology and Chemical Composition of Connective Tissue: Cartilage.  In, Connective Tissue and Its Heritable Disorders, Royce, P. and Steinmann, B., Eds. Wiley-Liss: New York, 2002, pp 41-65.
    Horton, W.A, Hecht, J.:  Chondrodysplasias:  General Concepts and Diagnostic and Management Considerations.  In, Connective Tissue and Its Heritable Disorders. Eds. Royce, P.M., Steinmann, B. New York: John Wiley & Sons, 2002, pp 901-908.
    Horton WA, Hecht JT: Chondrodysplasias:  Disorders With Defects in Structural Components of Cartilage Extracellular Matrix. In Connective Tissue and Its Heritable Disorders, Royce P, Steinmann, B., Eds. Wiley-Liss: New York, 2002 pp 909-938
    Horton, W.A.  Common Skeletal Deformities.  In, Emery and Rimoins Principles and Practices of Medical Genetics Fourth Edition, Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R., Eds.  London, Churhill Livingstone, 2002, pp 4236-4244.
    Horton WA: Abnormalities of bone structure. In Emery and Rimoin’s Principles and Practice of Medical Genetics. 4th Ed Rimoin DL, Connor JM, Pyeritz RE, Korf BR Eds. Churchill Livingstone, London. 2002 pp 4146-4159.
    Rasar, M.A., Cho, J., Lunstrum, G.P. and Horton, William A.  Fibroblast Growth Factor Receptor (FGFR) Mutations in Achondroplasia and Related Skeletal Dysplasias In The Growth Plate, I.M. Shapiro et al Eds.  IOS Press, Amsterdam, 2002, pp175-181.

    Horton, W.A. Hecht, J.T.: The skeletal dysplasias.  In, Nelson Textbook of Pediatrics, 17th edition. Behrman R.E., Kliegman R.M., Jenson, H.B. Eds.  Philadelphia. W.B. Saunders, 2003, pp 2320-2336.
    Horton, William. “Growth Disorders” In Genetics, edited by Richard Robinson New York:  Macmillan Reference USA, 2003 Vol. 2, pp 129-132.
    Horton WA: Skeletal development. In, Cell Signaling and Growth Factors in Development Wiley-VCH, Weinheim, 2:619-40, 2006.
    Horton, W.A.  Common Skeletal Deformities.  In, Emery and Rimoins Principles and Practices of Medical Genetics Fifth Edition, Rimoin, D.L., Connor, J.M., Pyeritz, R.E., Korf, B.R., Eds.  Elevier, Philadelphia, 3:3857-64, 2007.
    Horton WA: Abnormalities of bone structure. In Emery and Rimoin’s Principles and Practice of Medical Genetics. 5th Ed Rimoin DL, Connor JM, Pyeritz RE, Korf BR Eds. Elevier, Philadelphia. 3:3754-65, 2007.
    Horton WA and Hecht JT:  Skeletal dysplasias. In: Behrman, RE, Kliegman RM, Jenson HB Eds. Nelson’s Textbook of Pediatrics, 18th Ed. Philadelphia.  WB Saunders & Company, 2007.