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Erich Roessler, M.D., Ph.D.Associate Investigator, Medical Genetics BranchSelected PublicationsBelloni E., Muenke M., Roessler E., Traverso G., Siegel-Bartelt., Frumkin A., Mitchell H.F., Donis-Keller H., Helms C., Hing A.V., Heng H.H.Q., Koop B., Martindale D., Rommens J.M., Tsui L.-C. and Scherer S.W. Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly. Nat Genet, 14:353-356. 1996. [PubMed] Roessler E., Belloni E., Gaudenz K., Vargas F., Scherer S.W., Tsui L.C., Muenke M. Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly. Hum Mol Genet, 6:1847-1853. 1997. [PubMed] Roessler E., Belloni E., Gaudenz K., Jay P., Berta P., Scherer S.W., Tsui L.-C. and Muenke M. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet, 14: 357-360. 1996. [PubMed] Wallis D.E., Roessler E., Hehr U., Nanni L., Wiltshire T., Richieri-Costa A., Gillessen-Kaesbach G., Zackai E.H., Rommens J., Muenke M. Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet, 22:196-199. 1999. [PubMed] Gripp K.W., Wotton D., Edwards M.C., Roessler E., Ades L., Meinecke P., Richieri-Costa A., Zackai E.H., Massague J., Muenke M., Elledge S.J. Mutations in TGIF cause holoprosencephaly and link Nodal signaling to human neural axis determination. Nat Genet, 25:205-208. 2000. [PubMed] Bamford R., Roessler E., Burdine R.D., Saplakoglu U., dela Cruz J., Splitt M., Goodship J.A., Towbin J., Bowers P., Ferrero G.B., Marino B., Schier A.F., Shen M.M., Muenke M., Casey B.M. Loss-of-function mutations in the EGF-CFC gene, CFC1 are associated with human left-right laterality defects. Nat Genet, 26:365-369. & 501. 2000. [PubMed] Roessler E., Muenke M. Midline and laterality defects: left and right meet in the middle. BioEssays, 23:888-900. 2001. [PubMed] Goldmuntz B., Bamford R.N., Karkera J.D., dela Cruz J., Roessler E., Muenke M. CFC1 mutations in patients with transposition of the great arteries and double outlet right ventricle. Am J Hum Genet, 70:776-780. 2002. [PubMed] Roessler E., Du Y.Z., Mullor J.L., Casas E., Allen W.P., Gillessen-Kaesbach G., Roeder E.R., Ming J.E., Altaba A.R., Muenke M. Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA, 100:13424-13429. 2003. [PubMed] Roessler E, Muenke M. How a Hedgehog might see HPE. Hum Mol Genet, 12: R15-25. 2003. [PubMed] Roessler E., Ermilov A.N., Grange D.K., Wang A., Grachtchouk M., Dlugosz A.A., Muenke M. A previously unidentified amino-termial domain regulates transcriptional activity of wild-type and disease-associated human GLI2. Hum Mol Genet, 14:2181-2188. 2005. [PubMed] Jeong Y., El-Jaick K., Roessler E., Muenke M., Epstein D. A functional screen for Sonic hedgehog regulatory elements across a 1 Mb interval identifies long range ventral forebrain enhancers. Development, (4):761-72. 2006. [PubMed] El-Jaick, K.B., Powers, S.E., Bartholin, L., Myers, K.R., Hahn, J., Orioli, I.M., Ouspenskaia, M., Lacbawan, F., Roessler, E., Wotton, D., Muenke, M. Functional analysis of mutations in TGIF associated with holoprosencephaly. Molecular Genetics and Metabolism, 90(1):97-111. 2007. [PubMed] Karkera, J.D., Lee, J.S., Roessler, E., Banerjee-Basu, S., Ouspenskaia, M. V., Mez, J. , Goldmuntz, E., Bowers, P., Towbin, J., Belmont, J. W., Baxevanis, A. D., Schier, A. F., Muenke, M. Loss-of-function mutations in Growth Differentiation Factor - 1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet, 81(5):987-94. 2007. [PubMed] Roessler, E., Ouspenskaia, M.V., Karkera, J.D., Velez, J.I., Kantipong, A., Lacbawan, F., Bowers, P., Belmont, J.W., Towbin, J.A., Goldmuntz, E., Feldman, B., Maximilian Muenke, M. Reduced NODAL signaling strength via mutation of several pathway members is linked to human heart defects and holoprosencephaly. Amer J Hum Genet, 83:18-29. 2008. [PubMed] Jeong, Y., Leskow, F.C., El-Jaick, K., Roessler, E., Muenke, M., Yocum, A., Dubourg, C., Li, X., Geng, X., Oliver, G., Epstein, D.J. Regulation of a remote Shh Forebrain enhancer by the Six3 Homeoprotein. Nature Genet, 40:1348-1353. 2008. [PubMed] Domené, S., Roessler, E., El-Jaick, K., Snir, M., Brown, J., Vélez, J.I., Bale, S., Lacbawan, F., Muenke, M., Feldman, B. Mutations in the human SIX3 gene in holoprosencephaly are loss-of-function. Hum Mol Genet, 17:3919-3928. 2008. [PubMed] Roessler, E., Lacbawan, F., Dubourg, C., Paulussen, A., Herbergs, J., Hehr, U., Bendavid, C., Zhou, N., Ouspenskaia, M., Bale, S., Odent, S., David, V., Muenke, M. The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predict loss-of-function as the predominant disease mechanism. Hum Mutat, 2009. [In Press] Roessler E., Ma Y., Ouspenskaia M.V., Lacbawan F., Beachy P.A., Muenke M. Truncating loss-function mutations of human DISP1 contribute to holoprosencephaly-like features. Hum Genet, 2009. [In Press] Solomon, B.D., Lacbawan F., Jain, M., Roessler, E., Moore, C., Dobyns, W.B., Muenke, M. A novel SIX3 mutation segregates with holoprosencephaly in extended family. Am J Med Genet, 2009. [In Press] To view the PDFs on this page, you will need Adobe Acrobat Reader. Last Reviewed: August 24, 2009 |
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