ZFIN ID: ZDB-PERS-120530-1
Semina, Elena
Email: esemina@mcw.edu
URL: http://www.chw.org/display/PPF/DocID/31793/Nav/0/router.asp
Affiliation: Semina Lab
Address: Department of Pediatrics Medical College of Wisconsin 8701 Watertown Plank Road Milwaukee WI 53226 USA
Country: United States
Phone: 414-955-4996 (office)
Fax: 414-955-6329
ORCID ID:


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
Reis, L.M., Sorokina, E.A., Thompson, S., Muheisen, S., Velinov, M., Zamora, C., Aylsworth, A.S., Semina, E.V. (2019) De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. American journal of human genetics. 105(2):425-433
Hendee, K.E., Sorokina, E.A., Muheisen, S.S., Reis, L.M., Tyler, R.C., Markovic, V., Cuturilo, G., Link, B.A., Semina, E.V. (2018) PITX2 deficiency and associated human disease: insights from the zebrafish model. Human molecular genetics. 27(10):1675-1695
Weh, E., Takeuchi, H., Muheisen, S., Haltiwanger, R.S., Semina, E.V. (2017) Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome. PLoS One. 12:e0184903
Protas, M.E., Weh, E., Footz, T., Kasberger, J., Baraban, S.C., Levin, A.V., Katz, L.J., Ritch, R., Walter, M.A., Semina, E.V., Gould, D.B. (2017) Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. Human molecular genetics. 26:3630-3638
Greenlees, R., Mihelec, M., Yousoof, S., Speidel, D., Wu, S.K., Rinkwitz, S., Prokudin, I., Perveen, R., Cheng, A., Ma, A., Nash, B., Gillespie, R., Loebel, D.A., Clayton-Smith, J., Lloyd, I.C., Grigg, J.R., Tam, P.P., Yap, A.S., Becker, T.S., Black, G.C., Semina, E., Jamieson, R.V. (2015) Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization. Human molecular genetics. 24(20):5789-804
Deml, B., Reis, L.M., Muheisen, S., Bick, D., Semina, E.V. (2015) EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. Birth defects research. Part A, Clinical and molecular teratology. 103(7):630-40
Schilter, K.F., Reis, L.M., Sorokina, E.A., Semina, E.V. (2015) Identification of an Alu-repeat-mediated deletion of OPTN upstream region in a patient with a complex ocular phenotype. Molecular genetics & genomic medicine. 3:490-9
Deml, B., Kariminejad, A., Borujerdi, R.H., Muheisen, S., Reis, L.M., Semina, E.V. (2015) Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts. PLoS Genetics. 11:e1005002
Pathania, M., Semina, E.V., and Duncan, M.K. (2014) Lens extrusion from Laminin alpha 1 mutant zebrafish. TheScientificWorldJournal. 2014:524929
Reis, L.M., Tyler, R.C., Muheisen, S., Raggio, V., Salviati, L., Han, D.P., Costakos, D., Yonath, H., Hall, S., Power, P., and Semina, E.V. (2013) Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Human genetics. 132(7):761-70
Liu, Y., and Semina, E.V. (2012) pitx2 Deficiency Results in Abnormal Ocular and Craniofacial Development in Zebrafish. PLoS One. 7(1):e30896
Strungaru, M.H., Footz, T., Liu, Y., Berry, F.B., Belleau, P., Semina, E.V., Raymond, V., and Walter, M.A. (2011) PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3. Investigative ophthalmology & visual science. 52(10):7625-33
Volkmann, B.A., Zinkevich, N.S., Mustonen, A., Schilter, K.F., Bosenko, D.V., Reis, L.M., Broeckel, U., Link, B.A., and Semina, E. (2011) Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2. Investigative ophthalmology & visual science. 52(3):1450-1459
Sorokina, E.A., Muheisen, S., Mlodik, N., and Semina, E.V. (2011) MIP/Aquaporin 0 Represents a Direct Transcriptional Target of PITX3 in the Developing Lens. PLoS One. 6(6):e21122

NON-ZEBRAFISH PUBLICATIONS