Scientist: Profiles
| Name: |
Ethylin Wang Jabs,
MD |
| Research
Division: |
The Johns Hopkins University School of Medicine, Department of Pediatrics, Medicine, and Surgery; Institute of Genetic Medicine |
| City, State: |
Baltimore, MD
|
| Phone: |
(410) 955-4160 |
| Fax: |
410-502-5677
|
| URL: |
http://www.hopkinsmedicine.org/JabsLab/ |
| E-mail: |
ejabs1@jhem.jhmi.edu
|
|
 |
| Title: |
Director of The Center for Craniofacial Development and Disorders
|
Academic
Appointments: |
Dr. Frank V. Sutland Professor of Pediatric Genetics
Professor of Pediatrics, Professor of Medicine, Professor of Plastic Surgery |
| Degree(s): |
B.A., Human Biology/Mathematics, The Johns Hopkins University, 1974
M.D., Medicine, The Johns Hopkins University, 1977
|
Research
Interests: |
The research focus of my laboratory is on the molecular basis of human craniofacial disorders, especially craniosynostosis and mandibulofacial dysostosis. Ongoing positional cloning efforts are concentrated on the identification of disease genes of craniofacial conditions with neurological deficits. We have identified mutations for these conditions in homebox and helix-loop-helix transcriptional factors and fibroblast growth factors receptors. Current experimentations are focused at the biochemical and cellular level to delineate the pathogenetic mechanism of these mutations and phenotype-genotype correlations. |
References:
Jabs E.W., Li X., Scott A.F., Meyers G., Chen W., Eccles M., Mao J.I., Charnas L.R., Jackson C.E., and Jaye M.
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Nat Genet 8(3):275-279, 1994
abstract
Park, W.J., Bellus, G.A., and Jabs, E.W.
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Am J Hum Genet 57(4):748-754, 1995
abstract
Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma ,M., McKusick, V.A., and Jabs, E.W.
Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus
Am J Hum Genet 61:1405-1412, 1997
abstract
Howard, T.D., Paznekas, W.A., Green, E.D., Chiang, L.C., Ma, N., Ortiz de Luna, R.I., Garcia Delgada, C., Gonzalez-Ramos, M, Kline, A.D, and Jabs, E .W.
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.
Nat Genet 15(1):36-41, 1997
abstract
Glaser, R.L., Jiang, W., Boyadjiev, S.A., Tran, A.K., Zachary, A.A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall ,S.A., Wilkie, A.O.M., and Jabs, E.W.
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Am J Hum Genet 66:768-777, 2000
abstract
De Baere, E., Dixon, M.J., Small, K.W., Jabs, E.W., Leroy, B.P., Devriendt, K., Gillerot, Y., Mortier, G., Meire, F. Van Maldergem, L. Courtens, W., Hjalgrim, H., Huang, S., Liebaers, I., Van Regemorter, N., Touraine, P., Praphanphoj, V., Veroles, A., Uda
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation.
Hum Mol Genet 10(15):1591-1600, 2001
abstract
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Last Updated:
5/26/04
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