oratoryCURRICULUM VITAE
William Arnold Horton
Director, Research Center
Shriners Hospitals for Children -- Portland
Professor of Molecular & Medical Genetics
Oregon Health & Science University
INSTITUTION AND LOCATION |
DEGREE |
CONFERRED |
STUDY |
University of Kansas, Lawrence KS |
B.A. |
1967 |
Zoology |
University of Kansas School of Medicine, Kansas City |
M.D. |
1971 |
Medicine |
Kansas University Med Ctr, Internship, Kansas City |
|
1972 |
Internal Medicine |
Kansas University Med Ctr, Resident, Kansas City |
|
1973 |
Internal Medicine |
Staff Associate NINDS, NIH, Bethesda |
|
1975 |
Genetic Epidem |
UCLA-Harbor General Hospital, Torrance, CA |
Fellow |
1977 |
Medical Genetics |
HONORS
Walter F. Sutton Award in Human Genetics – 1969
Alpha Omega Alpha – 1971
Basil O'Connor Starter Research Grant
Award March of Dimes Birth Defects Fund – 1977
Board Certification, American Board of Internal Medicine, 1975
Board Certification, American Board of Medical Genetics, 1982
American Pediatrics Society 1992
RESEARCH AND/OR PROFESSIONAL EXPERIENCE
1993-Present Director, Research Center, Portland Shriners Hospital for Children
1993-Present Professor of Molecular & Medical Genetics, Oregon Health Sciences University
1988-1993 Professor of Pediatrics & Medicine, University of Texas Medical School – Houston
1983-1988 Associate Professor of Pediatrics & Medicine, University of Texas Medical School
1984-1993 Member of Faculty- University of Texas, Graduate School for Biomedical Sciences
1981-1983 Associate Professor Medicine & Pediatrics, University of Kansas Medical School
1977-1981 Assistant Professor of Medicine & Pediatrics, University of Kansas Medical School
PROFESSIONAL ORGANIZATIONS
American College of Physicians- Fellow
American Society of Human Genetics
American Federation of Clinical Research, Counselor - Midwest Section 1983-1986
Society for Pediatric Research
Sigma Xi
American Society of Cell Biology
International Skeletal Dysplasia Society (Founding Member)
International Society for Connective Tissue Research (Founding Member)
American College of Medical Genetics (Founding Fellow)
American Pediatrics Society
Orthopedic Research Society
American Society for Bone and Mineral Research
GRANT SUPPORT
Active
(8450) Shriners Research Program (Horton) 1/1/07 – 12/31/09
Special Shared Facility: Scientific Computing.
The goal of this Project is to provide cost effective computing resources in support of the research activities.
Role: PI
(8540) Shriners Research Program (Horton) 1/1/05 – 12/31/07
FGFR3 Signaling in the cartilaginous growth plate
This project is designed to delineate how wild type and mutant FGFR3 receptors are internalized, recycled and degraded by chondrocytes.
Role: PI
(8610) Shriners Research Program (Horton) 1/1/06 – 12/31/08
Membrane signals target FGFR3 for degradation
The major goal is to delineate trafficking of endosomes carrying FGFR3 and determine how this trafficking and the lysosomal delivery activated FGFR3 to lysosomes are disturbed by mutations in achondroplasia.
Role: PI
(8660) Shriners Research Program (Horton) 1/1/05 – 12/31/07
COMP Trafficking in normal and pathological conditions
This project is designed to define the normal secretory pathway of COMP and determine how it is disturbed by mutation in pseudoachondroplasia.
Role: PI
SERVICE TO ORGANIZATIONS, UNIVERSITY, COMMUNITY
Shriners (current)
Portland Research Center
Research Executive Committee (chair), Scientific Computing Committee (chair), Analytical Core Facility Committee, Animal Care Committee, Research Center Advisory Committee (ex officio)
Hospital
Hospital Executive Committee, Research-Board Liason Committee (co-chair), OHSU Liason Committee
OHSU (current)
Departmental
Molecular and Medical Genetics –
Professors Oversight Committee, Tenure/promotion Committee, PhD Thesis Committee - J Cho (MD, PhD) (W. Horton - mentor)
Pediatrics –
Oregon Child Health Research Center (NIH-sponsored) – Advisory Committee
OB-GYN –
Oregon Women’s Reproductive Health Career Develop Ctr - Advisory Committee
Orthopedic Surgery –
Orthopedic Research Laboratory - Scientific Advisory Board
Other
International Skeletal Dysplasia Society
Board of Directors, Member 1999 -
ProChon Biotech Ltd
Scientific Advisory Board, Member 1999 -
Osteogenesis Imperfecta Society
Scientific Review Committee, Member 2000 -
Little People of America
Medical Advisory Board, Member 1978 -
Human Growth Foundation
Board of Directors, Member 1981-1993
Chair, Research Committee 1985-1993
Executive Committee 1989-91
American Society of Human Genetics
Committee on Education and Information, Member 1990-1993
International Committee for Nomenclature of Inherited Disorders of Connective Tissue Member 1985- 1993
MEETINGS / COURSES ORGANIZED
2006 Developmental Biology in Orthopaedics-AAOS sponsored, W Horton Co-organizer
2006 International Workshop on Skeletal Growth, Portland W Horton, Chair
2003 Gordon Conference on Cartilage Biology and Pathology- organizing committee
2001 First International Conference on the Growth Plate, San Antonio, Sponsor – NIH, Scientific Advisory Board member
1999 Workshop on Human Chondrodysplasias, Portland, Sponsor - Shriners Research Program, W Horton - Organizer
1996 The Growth Plate. Orlando, Sponsor - Shriners Research Program, W Horton - Organizer
1995 Molecular and Developmental Biology of Cartilage, Bethesda, Sponsor – NIH, Co-organized by B de Crombrugghe, W Horton, B Olsen, F Ramirez
1987 Biological Basis of the Human Chondrodysplasias. Bethesda, Sponsor – NIH, W Horton - Organizer
1984-1993 Medical Genetics Course for 1st year Medical Students at University of Texas Medical School in Houston, - Course Director
GRANT REVIEW
NIH (ad hoc) 1984 -
Arthritis Foundation 1990 -
March of Dimes 1983 -
Osteogenesis Imperfecta Society 1985 –
Human Growth Foundation 1981 - 1997
MRC (Canadian) 1995 –
Genentech Foundation 1998 -
Israeli Ministry of Science 1998
International Human Frontier Science Program 1997 -
Swiss National Science Foundation 1999 -
Wellcome Foundation 2002 -
JOURNAL REVIEW
Amer J Med Genet J Biol Chem
Amer J Hum Genet J Bone Joint Surg
Am J Pathol J Bone Min Metab
Bone J Cell Biol
Clin Orthop Rel Res J Bone Min Res
Develop Dynamics J Orthop Res
Eur J Hum Genet J Clin Invest
Eur J Pediatr Matrix Biol
Eur J Musculoskeletal Res J Pediatr
Genomics N Engl J Med
Histochemistry Nat Genet
Human Genetics Nat Med
Hum Molec Genet PNAS
Human Mutation Prenatal Diagnosis
EDITORIAL POSITIONS
Associate Editor – Growth, Genetics & Hormones 1988 -
Associate Editor - Eur J Exp Musculoskel Res 1992 -1993
Co-Editor, Molecular and Developmental Biology of Cartilage. Ann N.Y.Acad Sci 785:1-366, 1996.
Section Editor, Birth Defects Encyclopedia, 1990-1992.
Editorial Consultant: The Human Body, Genetics and Heredity, Vol. 15, Torstar Books, Inc., New York, York, (1989).
Guest Editor - Pathol Immunopathol Res: Biological Basis of the Human Chondrodysplasias. 7:1-149, 1988.
PUBLICATIONS - Original Articles
1. Horton, W.A. and Schimke, R.N.: A new mucopolysaccharidosis. J. Pediatr., 77:252-258, 1979.
2. Halpern, B.L., Char, F., Murdock, J.L., Horton, W.A. and McKusick, V.A.: A prospectus on the prevention of aortic rupture in the Marfan Syndrome with data of surviovorship without treatment. The Johns Hopkins Med. J., 129:123-130, 1971.
3. Schimke, R.N., Horton, W.A. and King C.R.: Chondroiton-6-sulfaturia, defective cellular immunity and nephrotic syndrome. Lancer, 2:1088-1089, 1971.
4. Horton, W.A. and Calli, L.J.: Multiple endocrine adenomatosis presenting as adenoma, renal calculi, bronchial carcinoid, insulinoma, hepatic hamartoma, etc. Clinical Delineation of Birth Defects, 10:275-277, 1971.
5. Schimke, R.N, Horton, W.A., King, C.R. and Martin, N.L.: Chondroitin-6 sulfate mucopolysaccaridosis in conjunction with lymphopenia defective cellular immunity and nephrotic syndrome. Birth Defects: Original Article Series, 10:258-266, 1974.
6. Horton, W.A.: Klippel-Trenauney-Weber syndrome. Clinical Delineation of Birth Defects, 12:316-318, 1971.
7. Heard, M. G., Horton, W.A. and Hambrick, G.H.: The familial occurrence of multiple eruptive milia. Clinical Delineation of Birth Defects, 12:33-37, 1971.
8. Reikhof, P.L., Horton, W.A., Harris, D.J. and Schimke, R.N.: Monozygotic twins with the Turner syndrome. Am J. Obstet. Gynecol., 112:59-61, 1972.
9. Horton, W.A., Wong, V. and Eldridge, R.: The von Hippel-Lindau syndrome, clinical and pathologic manifestations in nine families with 50 affected. Arch. Int. Med., 36:769-777, 1976.
10. Horton, W.A., Eldridge, R. and Brody, J.A.: Familial amyotrophic lateral sclerosis: Evidence for at least three different types. Neurology, 26:460-465, 1976.
11. Horton, W.A.: The genetics of central nervous system tumors. Original Article Series, 12:91-97, 1976.
12. Horton, W.A., Rotten, J.I., Kaitila, I., Gursky, J.M., Hall, J.G., Shepard, T. H. and Rimoin, D.L.: Growth curves in achondroplasia. Birth Defects: Original Article Series, 13:101-107, 1977.
13. Horton, W.A. and Rimoin, D.L.: Histochemical characterization of the endochondral growth plate: A new approach to the study of the chondrodystrophies, Birth Defects: Original Article series, 14:81-93, 1987.
14. Horton, W.A.: Dwarfism: An Overview. J. Ks. Med. Soc., 74:58-61, 1978.
15. Rimoin, D.L. and Horton, W.A.: Short stature: Parts I & II. J. Pediatr., 92: 523-528 and 697-704, 1978.
16. Horton, W.A., Rotter, J.I., Scott, C.I. and Rimoin, D.L.: Standard growth curves in achondroplasia. J. Pediatr., 93:435-438, 1978.
17. Horton, W.A., Rimoin, D.L., Lachman, R.S., Scovby, F., Hollister, D.L., Spranger, J.: Phenotypic variability of diastrophic dysplasia. J. Pediatr., 93:609-613, 1978.
18. Horton, W.A., Rimoin, D.L., Hollister, D.W. and Silberberg, R.L.: Diastrophic dwarfism, a histochemical and ultrastructural study of the endochondral growth plate. Pediatr. Res., 13:904-909, 1979.
19. Horton, W.A., Rimoin, D.L., Hollister, D.W. and Lachman, R.S.: Further heterogeneity within lethal neonatal short limbed dwarfism, the platyspondylic types. J. Pediatr., 94:736-742, 1979.
20. Horton, W.A. and Rimoin, D.L.: The Kniest dysplasia, a histochemical study of the growth plate. Pediatr. Res., 13:1266-1270, 1979.
21. Sillence, D.O., Horton, W.A. and Rimoin, D.L.: Morphologic studies in the skeletal dysplasias. Am J. Pathol., 96:813-870, 1979.
22. Horton, W.A.: Genes, lipids, and coronary artery disease. Continuing Education, 11:86-93, 1979.
23. Horton, W.A., Collins, D.L., DeSmet, A.A., Kennedy, J.A. and Schimke, R.N.: Familial joint instability syndrome. Am. J. Med. Genet., 6:221-228, 1980.
24. Horton, W.A., Schimke, R.N. and Iyama, T.: Osteopetrosis-further heterogeneity. J.Pediatr., 97:580-585, 1980.
25. Horton, W.A., Dockery, N., Sillence, D. and Rimoin, D.L.: An embedding method for histochemical studies of undecalcified skeletal growth plate. Stain Technol., 55:19-29, 1980.
26. Karlin, C.A., DeSmet, A.A., Neff, J., Lin, F., Horton, W.A. and Wertzberger, J.J.: The variable manifestations of extra-articular synovial chondromatosis. A.J.R., 137:731-735, 1981.
27. Lachman, R., Sillence, D., Rimoin, D., Horton, W., Hall, J., Scott, C., Spranger, J., Langer, L. and Dorst, J.: Diastrophic dysplasia- the death of a variant. Radiology, 140:79-86, 1981.
28. Horton, W.A.: The use of the iliac crest biopsy in the evaluation of the child with dwarfism. Proceedings of the Skeletal Growth Symposium, St. Paul, MN, 1981.
29. Horton, W.A. and Scott, C.I.: Dyggve-Melchior-Clausen syndrome, a histochemical study of the endochondral growth plate. J. Bone & Joint Surg., 64-A:408-415, 1982.
30. Horton, W.A., Hall, J.G., Scott, C.I., Pyeritz, R. and Rimoin, D.L.: Growth curves in diastrophic dysplasia, spondyloepiphyseal dysplasia congenita and pseudoachondroplasia. Arch. Dis. Child., 136:316-319, 1982.
31. Levine, E., Collins, D.L., Horton, W.A. and Schimke, R.N.: Computed tomographic screening of the abdomen in the Hippel-Lindau syndrome. A.J.R., 139:505-510, 1982.
32. Horton, W.A,: The child with short stature. Continuing Education Family Physician, 18:163-168, 1983.
33. Horton, W.A., Goering, R., Dwyer, C. and Dean, D.: Immunohistochemistry of types I and II collagen in undecalcified skeletal tissues. J. Histochem. Cytochem., 31:417-425, 1983.
34. Horton, W.A., Harris, J.A. and Collins, D.C.: Discordance for the Kleeblattschadel anomaly in thanatophoric dwarfism. Am. J. Med. Genet., 15:97-101, 1983.
35. Horton, W.A., Langer, L.and Collins, D.C.: Brachyolmia, Hobaek type: Clinical, radiographic and histologic study. Am. J. Med. Genet., 16:201-212, 1983.
36. Horton, W.A., Howard, C.P. and Grunt, J.A.: Skeletal changes following hGH treatment in a child with combined hypopituitarism and skeletal dysplasia. Acta Endocrinol., 103:302-308, 1983.
37. Horton, W.A.: Histochemistry, a valuable tool in connective tissue research. Collagen Rel. Res., 4:231-237, 1984.
38. Whitley, C.B., Langer, L.O., Ophoven, J., Gilbert, E.F., Mammel, M., Colemon, M., Rosenberg, S., Rodriques, C.J., Sibley, R., Horton, W.A., Opitz, J.M. and Gorlin, R.J.: Fibrochondrogenesis, autosomal recessive chondrodysplasia with distinctive cartilage histopathology. Am. J. Med. Genet., 19:265-276, 1984.
39. Desch, L. W. and Horton, W.A.: An autosomal recessive bone dysplasia syndrome resembling hypochondroplasia. Pediatrics, 75:786-790, 1985.
40. Hecht, J., Nelson, F.W., Butler, I.J. and Horton, W.A.: Computerized tomography of the foramen magnum: Achondroplast values compared to normal standards. Am. J. Med. Genet., 20:355-360, 1985.
41. Horton, W.A., Chou, J.W. and Machado, M.A.: Cartilage collagen analysis in the chondrodystrophies. Collagen and Related Research, 5:349-354, 1985.
42. Schimke, R. N., Horton, W.A., Collins, D.L. and Therou, L.: A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. Am. J. Med. Genet., 17(1):323-32, 1984.
43. Toriello, H.V., Horton, W.A., Ostendorp, A., Waterman, D. F. and Higgins, J.V.: An apparently new syndrome of microcephalic primordial dwarfism and catatracts. Amer. J. Med. Genet., 25:1-8, 1986.
44. Rimoin, D.L., Borochowitz, Z. and Horton, W.A.: Short stature, physiology and pathology. Western Medicine, 144: 710-721, 1986.
45. Hecht, J.T., Horton, W.A., Butler, I. J., Goldie, W.D., Miner, M. G., Shannon, R. and Pauli R.: Foramen magnum stenosis in homozygous achondroplasia. European J. Pediatr., 145:545-547, 1986.
46. Reid, C.M.V., Hall, J.G., Anderson, C., Bocian, M., Carey, J., Costa, J., Curry, C., Greenberg, F., Horton, W., Jones, M., Lafer, C., Larson, E., Lubinsky, M., McGillivary, B., Pembry, M., Popkin, J., Seller, M., Seibert, V. and Verhagen, A.: Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk. Amer. J. Med. Genet., 24:702-710, 1986.
47. Jayo, M.J., Horton, W.A. and Dennis, S.M.: Bovine dwarfism, clinical, biochemical, radiological and pathologic aspects. Zentralbl Veterinarmed [A] Mar;34(3):161-77, 1987.
48. Horton, W.A., Machado, M.A., Chou, J.W. and Campbell, D.: Achondrogenesis type II, a defect in chondrocyte differentiation. Pediatr. Res., 22:324-329, 1987.
49. Horton, W.A., Jayo, M. J., Leipold, H., Machado, M.A., Campbell D. and Ahmed S: Bovine achondrogenesis, evidence for defective chondrocyte differentiation. Bone, 8:191-197, 1987.
50. Horton, W.A. and Machado, M.A.: Alterations in the extracellular matrix in endochondral ossification in man. J. Orthop. Res., 6:793-803, 1988.
51. Hecht J.F., Francomano C.A., Horton W.A. and Anngers, J.F.: Mortality in achondroplasia. Am. J. Hum. Genet., 41:454-464, 1987.
52. Frayer, D.W., Horton, W.A., Macchiarelli, R. and Mussi, R.: A dwarf from the Italian Upper Paleolithic. Nature, 330:60-62, 1987.
53. Horton, W.A., Hood, O.J., Machado, M.A., Ahmed, S. and Griffey, E.S.: Abnormal Growth plate chondrocyte behavior in thanatophoric dysplasia. Bone, 9:53-61, 1988.
54. Nelson, F.W., Hecht, J.T., Horton, W.A., Butler, I.J., Goldie, W.D. and Miner, M.: Neurologic basis of respiratory complications in achondroplasia. Ann. Neurol., 24(1):89-93, 1988.
55. Horton, W.A.: Approaches to investigation growth plate cartilage in the human chondrodysplasias. Pathol Immunopath Res., 7:85-89, 1988.
56. Horton, W.A., Goetinck, P.F., Sayedin, S.M., Minor, R.R., Spranger, J., Rimoin, D.L., McKusick, V.A. and Dayton, D.H.: New perspectives in the human chondrodysplasias. Pathol. Immunopathol. Res., 7:146-148, 1988.
57. Horton, W.A., Campbell, D., Machado, M.A., Aulthouse, A.L., Ahmed, S. and Ellard, J.T.: Tissue and cell studies of the growth plate in the chondrodysplasias. Am. J. Med. Genet., 34:91-95, 1989.
58. Horton, W.A., Hood, O.J., Machado, M.A. and Campbell, D.: Growth plate cartilage studies in achondroplasia. Basic Life Sci., 48:81-89, 1988.
59. Hecht, J.T., Hood, O.J., Schwartz, R.J., Bernhardt, B.A., Hennesey, J.C. and Horton, W.A.: Obesity in achondroplasia. Amer. J. Med. Genet., 31:597-602, 1988.
60. Aulthouse, A.L., Beck, M., Griffey and Horton, W.A.: Expression of human chondrocyte phenotypes in vitro. Cell Develop. Biol., 25:659-668, 1989.
61. Su, M.W., Lee, B., Ramirez, F., Machado, M. and Horton, W.A.: Nucleotide sequence of the full length Cdna encoding for human type II procollagen. Nucl. Acid Res., 17(22) :9473, 1989.
62. Horton, W.A., Campbell, D., Machado, M.A. and Chou, J.: Type II collagen screening in the human chondrodysplasias. Amer. J. Med. Genet., 34: 579-583, 1989.
63. Horton, W.A.: New insights into the human chondrodysplasias. Surg. Rounds for Orthopaedics 2:24-30, 1990.
64. Yang, F., Friedrichs, W.E, Cupples, R.L., Bonifacio, M.J., Sanford, J.A., Horton, W.A. and Bowman, B.H.: Human Ceruloplasmin: Tissue-specific expression of transcripts produced by alternative splicing. J. Biol. Chem., 265(18):10780-5, 1990.
65. Horton, W.A.: Biology of bone growth. Growth Genetics & Hormones, 6(2):1-5 1990.
66. Stern, H.J., Graham, J.M, Jr., Lachman, R.S., Horton, W.A., Bernini, P.M., Spiegel, P.K., Bodurtha,. J., Ives, E.J., Bocian, M.and Rimoin, D.L: Atelogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-Palato-Digital syndrome type II. Am. J. Med. Genet., 36:183-195, 1990.
67. Ganguly, A., Baldwin, C.T., Strobel, D., Conway, D., Horton, W.A. and Prockop, D.J.: Heterozygous mutation in the G+5 position of intron 33 of the proa2 (1) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation. J. Biol. Chem., 266:12035-12040, 1991.
68. Hecht, J.T., Thompson, N.M., Weir, T., Patchell, L. and Horton, W.A.: Cognitive and motor skills in achondroplastic infants: Neurologic and respiratory correlates. Am. J. Hum. Genet., 41:208-211, 1991.
69. Wortman, R. L., Tekkanat, K.K., Veum, J.A., Meyer, R.A., Hood, O.J. and Horton, W.A.: Basis for chondro-osseus dysplasia associated with adenosine deaminase deficiency: Selective toxicity in immature chondrocytes. Adv. Exp. Med. Bio., 309B:265-268, 1991.
70. Garofalo, S., Vuorio E., Metsaranta, M., Rosati, R., Toman, D., Vaughan, J., Lozano, G., Mayne, R., Ellard, J., Horton, W.A. and deCrombrugghe, B.: Reduced amount of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine to cysteine mutation in the mouse proa (II) collagen gene. Proc. Natl. Acad. Sci., 88:9648-9652, 1991.
71. Horton, W.A., Hecht, J.T., Marshall, R., Hood, O.J., Moore, W. and Hollowell: Growth hormone therapy in achondroplasia. Am. J. Med. Genet., 42:667-670, 1992.
72. Greenhaw, G.A., Hebert, A., Duke-Woodside, M.E., Butler, U., Hecht, J.T., Cleaver, J.E., Thomas, G.H. and Horton, W.A.: Xeroderma pigmentosum and cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet 50:677-689, 1992.
73. Horton, W.A., Hecht, J.T., Marshall, R., Hood, O.J., Moore, W. and Hollowell: Growth hormone therapy in achondroplasia. Am. J. Med. Genet., 42:667-670, 1992.
74. Horton, W.A., Machado, M.A., Ellard, J., Campbell, D., Bartley, J., Ramirez, F., Vitale, E. and Lee, B.: Characterization of a type II collagen (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis. Proc. Natl. Acad. Sci., 89:4583-4587, 1992.
75. Spranger, J., Beighton, P., Giedion, A., Gorlin, R., Hall, J., Horton, W.A., Kozowski, K., Lachman, R., Langer, L.O., Maroteaux, P., Poznanski, A., Rimoin, D.L. and Sillence, D.: International classification of osteochondrodysplasias. Europ. J. Pediatr. 151:407-415, 1992.
76. Hecht, J.T., Wang, Y., Horton, W.A., Blanton, S.H., Daiger, S.P. and Francomano, C.A.: Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) in pseudoachondroplasia. Am J Med Genet, 44:420-424, 1992.
77. Garofalo, S., Metsaranta, M., Ellard, J., Smith, C., Horton, W., Vuorio, E. and de Crombrugghe, B: Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice. Proc Natl Acad Sci, 90:3825-3829, 1993.
78. Hecht, J.T., Francomano, C.A., Briggs, M.D., Deere, M., Conner, B., Horton, W.A., Warman, M., Cohn, D.H.and Blanton, S.H.: Linkage of typical pseudoachondroplasia to chromosome 19. Genomics, 18:661-666, 1993.
79. Rosati, R., Horan, G.S.B., Pinero, G.J., Garofalo, S., Keene, D.R., Horton, W.A., Vuorio, E., deCrombrugghe, B. and Behringer, R.R.: Normal long bone growth and development in type X collagen-null mice. Nat Genet. 8:129-135, 1994.
80. Horton, W.A.: Extending the nosology of the chondrodysplasias to the cellular and molecular levels. Pediatr Radiol 24:410-412, 1994.
81. Beals, R.K., Horton, W.A. The diagnosis of skeletal dysplasias. J Am Acad Orthop Surg, 3:174-181, 1995.
82. Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, I.and Francomano, C.A.: Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet, 56:368-373, 1995.
83. Brewton, R.G., Wood, B., Ren, Z-X., Gong, Y., Tiller, G., Matthew, M.L., Lee, B., Horton, W.A., Olsen, B.R., Baker, J.R.and Mayne, R.: Molecular cloning of the a3 chain of human type IX collagen - lineage of the gene COL9A3 to chromosome 20q13.3. Genomics, 30:329-335, 1995.
84. Ahn, J., Ludecke, H-J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B. and Wells, D.E.: Identification of a candidate gene for hereditary multiple exostoses (EXT1) on human chromosome 8q24.1. Nat Genet, 11:137-143, 1995.
85. Bellus, G.A., McIntosh, I., Smith, E.A., Aylesworth, A.S., Kaitila, I., Horton, W.A., Greenhaw, G.A., Hecht, J.T.and Francomano, C.A.: A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet, 10:357-359, 1995.
86. Horton, W.A.: Molecular genetics of human chondrodysplasias. Eur J Hum Genet 3:357-373, 1995.
87. Horton, W.A.: Progress in human chondrodysplasias: molecular genetics. Proc N Y Acad Sci 785:150-159, 1996.
88. Horton, W.A.: Evolution of the bone dysplasia family. Am J Med Genet, 63:4-6, 1996.
89. Ballo, R., Viljoen, D., Machado, M., Keene, D., Horton, W., Fredlund, V., Jacobs, M., Martell, R., Beighton, P. and Ramesar, R.: Mseleni joint disease--a molecular genetic approach to defining the aetiology. S Afr Med J 86:956-958, 1996.
90. Horton, W.A.: Molecular genetic basis of the human chondrodysplasias. Endocrinol Metab Clin. N A 25:683-697, 1996.
91. Maddox, B.K., Garofalo, S., Smith, C., Keene, D.R. and Horton, W.A.: Skeletal Development in Transgenic Mice Expressing a Mutation at Gly574Ser of Type II Collagen. Develop Dynam, 208:170-177, 1997.
92. Horton WA: Molecular genetics of human chondrodysplasias. Growth, Genetics Hormones 13:49-55, 1997.
93. Horton, W.A.: Recent advances in genetics of human chondrodysplasias. Pediatr. Radiol. 27:419-21, 1997.
94. Su W-C S, Kitagawa, M. Xue, N., Xie, B, Garofalo, Cho, J., Deng, C., Horton, W.A., Fu X-Y.: STAT 1 activation induced by mutant FGFR3 in thanatophoric dysplasia type II. Nature 386:288-292, 1997.
95. Maddox, B.K., Garofalo, S., Keene, D.R., Smith, C. and Horton WA: Reduced biosynthesis and secretion of type II collagen in transgenic mice with Col2a1 mutation at Gly574Ser. Matrix Biol. 16: 93-103, 1997.
96. Dreyer, S.D., Zhou, L., Machado, M. A., Horton, W.A., Zabel, B., Winterpacht, A. and Lee B.: Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. Mammal Genome 9:458-462, 1998.
97. Rimoin, D.L., Francomano, C.A., Giedion, A., Hall, C., Kaitlia, I., Cohn, D., Gorlin, R., Hall, J., Horton, W.A., Krakow, D., Posnanski, A. K., Sillence, D., Spranger, J., Warman, M., Superti-Furga, A.and Wilcox W.: International nomenclature and classification of the osteochondrodysplasias. Am J Med Genet 79:376-382, 1998.
98. 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.
99. Lunstrum, G.P., D.R. Keene, N.B. Weksler, Y.J. Cho, M. Cornwall, and W.A. Horton. Chondrocyte differentiation in a rat mesenchymal cell line. J Histochem Cytochem, 47(1):1-6, 1999.
100. 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.
101. 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 * Co-senior authors.
102. Grant, T.D., Cho, J.Y., Arial, K.S., Weksler, N.B., Smith, R.W., Horton, W.A. Col2-GFP reporter marks chondrocyte lineage and chondrogenesis during mouse skeletal development. Dev Dyn, 218:394-400, 2000.
103. Dryer, S.D., Morello, R., German, M.S., Zabel, B., Winterpacht, A., Lunstrum, G.P., Horton, W.A., Oberg, K., Lee, B: LMX1B transactivation and expression in nail patella syndrome. Hum Mol Genet, (9)7:1067-1074, 2000.
104. Garofalo S, Horton W.A.: Genetic engineered models of skeletal diseases II. Targeting mutations into transgenic mice chondrocytes. Methods Mol Bio, 137:491-498, 2000.
105. Spagnoli A, Hwa V, Horton WA, Lunstrum GP, Roberts CT, Chiarelli F, Torello M, Rosenfeld RG: Antiproliferative Effects of insulin-like growth factor-binding protein-3 in mesenchymal chondrogenic cell line RCJ3.1C5.18. Relationship to differentiation stage. J Biol Chem, 276:5533-5540, 2001.
106. Cho JY, Grant TD, Lunstrum GP, Horton WA: Col2-GFP reporter mice – a new tool to study skeletal development. Am J Med Genet 106:251-253, 2001.
107. 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.
108. Gaiser, K.S., Maddox, B.K., Keene, D.R., Garofalo, S. Horton, W.A.: Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of SED. J Bone Min Res, 17:39-47, 2002.
109. 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, 277:18860-7, 2002.
110. Horton WA, Lunstrum GP: FGFR3 mutations and genetic dwarfism. Rev Endocrin Metab Dis, 3:381-385, 2002.
111. Horton WA: Skeletal development - insights from targeting the mouse genome. Developmental Biology Series. Lancet, 144:1695-1702, 2003.
112. L. Longobardi, M. Torello, C. Buckway, L. O’Rear, W.A. Horton, V. Hwa, C.T. Roberts Jr, F. Chiarelli, R.G. Rosenfeld, A. Spagnoli. A Novel IGF-Independent Role for Insulin-like Growth Factor binding Protein-3 (IGFBP-3) on Mesenchymal Chondroprogenitor Cell Apoptosis. Endocrinology, 144:1695-702, 2003.
113. Horton WA: The evolving definition of a chondrodysplasia? Pediatr Pathol Mol Med 22:47-52, 2003.
114. Cho JY, Guo C, Torello M, Lunstrum GP, Iwata T, Deng C, Horton WA: Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia. PNAS 101:609-614, 2004.
115. Gareau DS, Bargo PR, Horton WA, Jacques SL: Confocal fluorescence spectroscopy of subcutaneous cartilage expressing green fluorescent protein versus cutaneous collagen autofluorescence. J Biomed Optics 9:254-258, 2004.
116. 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.
117. 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.
118. Horton, WA: Recent milestones in achondroplasia research. Am J Med Genet A 140A:166-69, 2006
119. Horton, WA, Molecular Pathogenesis of achondroplasia. Grow Genet Horm, 22(4):49-54, 2006
120. 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.
121. 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
122. 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
123. Horton WA: Recent milestones in achondroplasia research. Am J Med Genet 140:166-169, 2006.
124. Horton WA, Tuan RS, Jacenko O: International Workshop on the Skeletal Growth Plate, Matrix Biology, 26:4324-2,2007
125. Alman BA, Horton WA: Developmental biology in orthopaedics. Summary 2006 AAOS Research Symposium. J Bone Joint Surg 89:668-71, 2007.
126. Horton WA, Hall JG, Hecht JT: Seminar on achondroplasia. Lancet 370:162-172, 2007.
127. Guo C, Degnin CR, Laederich MB, Lunstrum GP, Holden P, Bihlmaier J,
Krakow D, Cho JY, Horton WA: Sprouty 2 disturbs FGFR3 degradation
in the achondroplasia group of human skeletal dysplasias. Cell Signal.
2008 Apr 10. [Epub ahead of print] PMID: 18485666 [PubMed -
as supplied by publisher]
BOOK CHAPTERS
1. Horton, W.A.: Heritable disorders of connective tissue. Clinical Genetics. R. N. Schimke and L. G. Jackson, eds., Wiley, Philadelphia, 1979. pp. 229-244.
2. 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.
3. 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.
4. Horton, W.A. :Short stature, a comprehensive approach. Proceedings, International Symposium on Genetic Issues in Pediatrics, Perinatology and Obstetrical Practice. M.M. Kaback, ed. Year Book Medical Publishers, Chicago, 1981, pp. 307-328.
5. Horton, W.A.: Somatic growth and development. Pediatric Dentistry: Scientific Foundations and Clinical Practice. R.E. Steward, T.K. Barber, K.C. Troutman and S.H.Y. Wei, eds, C.V. Mosby, St. Louis , 1981, pp. 6-11.
6. Horton, W.A.: Beckwith-Wiedemann syndrome. Handbook of Clinical Neurology P. Vinken and G. Bruyn, eds. Elsevier Science, Ltd., 1981, Vol. 42.
7. Horton, WA.: Hypothalamic hamartoma. Handbook of Clinical Neurology. P. Vinken and G. Bruyn, eds., Elsevier Elsevier North-Holland, Inc., New York, 1981, p. 737.
8. Horton, W.A.: Abnormalities in bone structure, disorganized development of the cartilage and fibrous components to the skeleton. Principles and Practice of Medical Genetics. A.E.H. Emery and D.L. Rimoin, eds., Churchill Livingstone, Edinburgh, 1990, pp. 933-952.
9. Horton, W.A.: Inheritance of common skeletal deformitites. Principles and Practice of Medical Genetics. A.E.H. Emery and D.L. Rimoin, eds, Churchill Livingstone, Edinburgh, 1990, pp. 1037-1046.
10. Horton, W.A.: Disproportionate short stauture. Practice of Pediatrics. V.Kelley, ed., Harper and Row, New York. Vol. 7, Chapter 63, 1983, pp. 1-15.
11. Horton, W.A.: Histochemical, immunohistochemical and lectin studies of undecalcified iliac crest growth plate in the skeletal dysplasias. Skeletal Dysplasias. Alan R. Liss, New York, 1982, pp. 401-410.
12. Horton, W.A.: Bone dysplasias. In, Practice of Pediatrics. V. Kelley ed., Harper and Row, New York, Chapter 55, 1988, pp. l-30.
13. Horton, W.A.: Growth plate biology and the Turner syndrome, in Turner Syndrome. RG Rosenfeld and M.M. Grumback, eds., New York, Marcel Dekker, 1990, pp. 259-266.
14. Horton, W.A.: Connective tissue biology and common skeletal disorders. In The Genetic Basis of Common Disease. King RA, Rotter JI, Motulsky A, eds., McGraw-Hill, 1992, pp. 625-640.
15. Horton, WA: Cartilage Morphology, In Extracellular Matrix and Heritable Disorder of Connective Tissue. PM Royce, B Steinman, eds., Alan R. Liss, New York, 1993, pp 73-84.
16. Horton, W.A., and Hecht, J.T.: Chondrodysplasias. In Extracellular Matrix and Heritable Disorder of Connective tissue. PM Royce, B Steinman eds., Alan R. Liss, New York, 1993, pp. 641-676.
17. Horton, W.A.: Skeletal growth in the Turner syndrome - cellular and molecular pathogenetic considerations. In Basic and Clinical Approachs to Turner Syndrome. I Hibi, K Takano eds., Excerpta Medica, New York, 1993, pp 147-154.
18. Horton, W.A., Machado, M.A., Ellard, J.T., Campbell, D., Putnam, E.A., Aulthouse, A.L., Sun, X., and Sandell, L.J.: An experimental model of human chondrocyte differentiation. Limb Develop Regeneration Wiley-Liss 1993, pp 533-540.
19. Horton, W.A.: Mechanisms of differentiation and growth of cartilage and bone. Proc. Eighth Ann. Invest. Meeting. Gardner, Caldwell, Synermed, Califon, NJ, 1995, pp. 8-9.
20. de Crombrugghe B, Horton WA, Olsen BR, Ramirez F (eds): Molecular and Developmental Biology of Cartilage. Ann N Y Acad Sci Vol 785, New York Acad Sci, New York 1996.
21. 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.
22. Horton, W.A.: Bone and cartilage growth. In, Normal Growth--Pathophysiology and Treatment, Chapman and Hall, London.
23. 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.
30. 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.
31. 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.
32. 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.
33. 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
34. 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.
35. 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.
36. Horton WA, Hecht JT: Skeletal dysplasia section In Nelson’s Textbook of Pediatrics 17th Ed. Behrman, R.E. Philadelphia: W.B. Saunders & Company 2003 pp 2320-2340.
37. 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.
38. Horton, William. “Growth Disorders” In Genetics, edited by Richard Robinson New York: Macmillan Reference USA, 2003 Vol. 2, pp 129-132.
39. Horton WA: Skeletal development. In, Cell Signaling and Growth Factors in Development Wiley-VCH, Weinheim, 2:619-40, 2006.
40. 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.
41. 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.
42. 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.
SHORT BOOK CHAPTERS
(The following are short chapters in Birth Defects Compendium. D. Bergsma, ed., Alan R. Liss, New York, 1979, revised in 1991).
1. Horton, W.A.: Ehlers-Danlos syndrome, p. 386.
2. Horton, W.A.: Ectrodactyly, pp. 383-384.
3. Horton, W.A.: Radial defects, p. 919.
4. Horton, W.A.: Sprengel deformity, pp. 973-974.
5. Lachman, R.S. and Horton, W.A.: Enchondromatosis, pp. 392-393.
6. Horton, W.A., Rimoin, D.L.: Dwarfism, panhypopituitarism, pp. 353-354.
7. Horton, W.A., Rimoin, D.L.: Dwarfism, pituitary with abnormal sella turcica, p. 355.
8. Horton, W.A., Rimoin, D.L.: Growth hormone deficiency, isolated, p. 500.
9. Horton, W.A. and Rimoin, D.L.: Adrenocorticotrophic hormone, isolated, p. 53.
10. Horton, W.A. and Rimoin, D.L.: Gonadotropin deficiency, isolated, pp. 490-491.
11. Horton, W.A. and Rimoin, D.L: Thyrotropin deficiency, isolated, pp. 1024-1025.
12. Horton, W.A.: Achondrogenesis, Langer-Saldino type, p. 32.
13. Horton, W.A., Uitto, J.and Lichtenstein, J.R.: Osteogenesis imperfecta, pp. 835-836.
14. Horton, W.A.: Achondrogenesis, Parenti-Fraccaro type, p. 33.
15. Horton, W.A. The Evolving Definition of a Chondrodysplasia? In Pediatric Pathology & Molecular Medicine, S. Tabibzadeh, MD, Editor in Chief, Taylor & Francis, Phildelphia, 2003, Vol. 22, pp. 47-52.